|
|
| G
|
Ache
|
acetylcholinesterase (Cartwright blood group)
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:31170385 |
|
NCBI chrNW_004936543:856,678...862,080
Ensembl chrNW_004936543:856,676...862,109
|
|
| G
|
Agt
|
angiotensinogen
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:3524928 |
|
NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
|
|
| G
|
Alad
|
aminolevulinate dehydratase
|
|
ISO
|
associated with Trypanosomiasis;protein:increased activity:erythrocyte
|
RGD |
PMID:21854703 |
RGD:12904694 |
NCBI chrNW_004936559:226,481...237,258
Ensembl chrNW_004936559:226,424...241,684
|
|
| G
|
Alas2
|
5'-aminolevulinate synthase 2
|
|
ISO
|
mRNA:decreased expression:liver:
|
RGD |
PMID:21296123 |
RGD:10449049 |
NCBI chrNW_004936751:1,818,255...1,841,028
Ensembl chrNW_004936751:1,814,446...1,841,531
|
|
| G
|
Ank1
|
ankyrin 1
|
severity
|
ISO
|
associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns:
ClinVar Annotator: match by term: Anemia
|
RGD
ClinVar |
PMID:11372755 PMID:25741868 |
RGD:11251706 |
NCBI chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381
|
|
| G
|
Apc
|
APC regulator of WNT signaling pathway
|
|
ISO
|
|
RGD |
PMID:17360473 |
RGD:1601201 |
NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
|
|
| G
|
Apoa4
|
apolipoprotein A4
|
|
ISO
|
associated with Inflammation; protein:increased expression:blood plasma (mouse)
|
RGD |
PMID:22146476 |
RGD:5685688 |
NCBI chrNW_004936542:2,098,683...2,101,127
Ensembl chrNW_004936542:2,098,683...2,101,127
|
|
| G
|
Aspg
|
asparaginase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:2187653 |
|
NCBI chrNW_004936621:1,140,651...1,163,608
Ensembl chrNW_004936621:1,140,658...1,163,589
|
|
| G
|
Atg5
|
autophagy related 5
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:26568842 |
|
NCBI chrNW_004936564:2,759,085...2,885,394
Ensembl chrNW_004936564:2,758,598...2,885,420
|
|
| G
|
Atg7
|
autophagy related 7
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:26568842 |
|
NCBI chrNW_004936602:1,938,720...2,179,239
Ensembl chrNW_004936602:1,935,507...2,179,256
|
|
| G
|
Atp7a
|
ATPase copper transporting alpha
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23776592 |
|
NCBI chrNW_004936683:2,874,022...2,936,214
Ensembl chrNW_004936683:2,874,042...2,935,040
|
|
| G
|
Bmp6
|
bone morphogenetic protein 6
|
|
ISO
|
mRNA,protein:decreased expression:liver
|
RGD |
PMID:21859731 |
RGD:7242407 |
NCBI chrNW_004936534:4,707,658...4,871,865
Ensembl chrNW_004936534:4,709,064...4,871,023
|
|
| G
|
Cdk6
|
cyclin dependent kinase 6
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:28255017 |
|
NCBI chrNW_004936803:1,025,047...1,229,396
Ensembl chrNW_004936803:1,024,779...1,227,516
|
|
| G
|
Clec11a
|
C-type lectin domain containing 11A
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19884328 |
|
NCBI chrNW_004936889:476,439...478,620
Ensembl chrNW_004936889:476,133...478,711
|
|
| G
|
Csf2
|
colony stimulating factor 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:8297739 PMID:11732872 |
|
NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864
|
|
| G
|
Csf3
|
colony stimulating factor 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:12085204 PMID:16076697 PMID:17047649 |
|
NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
|
|
| G
|
Dkc1
|
dyskerin pseudouridine synthase 1
|
|
ISO
|
|
RGD |
PMID:12522253 |
RGD:11251731 |
NCBI chrNW_004936927:134,770...144,057
Ensembl chrNW_004936927:134,875...145,268
|
|
| G
|
Ephx1
|
epoxide hydrolase 1
|
treatment
|
ISO
|
associated with Ovarian Neoplasms
|
RGD |
PMID:24533712 |
RGD:11097078 |
NCBI chrNW_004936526:2,589,254...2,652,831
Ensembl chrNW_004936526:2,614,059...2,653,286
|
|
| G
|
Epo
|
erythropoietin
|
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum
CTD Direct Evidence: marker/mechanism|therapeutic
associated with Diabetic Nephropathies;protein:decreased expression:serum
|
RGD
CTD |
PMID:1516988 PMID:1574960 PMID:1893952 PMID:1982298 PMID:2186273 PMID:2206997 PMID:7529132 PMID:7602351 PMID:7631396 PMID:7732690 PMID:8202718 PMID:8250662 PMID:8260696 PMID:8418619 PMID:8504984 PMID:9118049 PMID:9616293 PMID:9617462 PMID:9743294 PMID:10506726 PMID:10713657 PMID:11245434 PMID:11273875 PMID:11454181 PMID:11569724 PMID:11828949 PMID:11981781 PMID:12670280 PMID:12713065 PMID:12820454 PMID:12897097 PMID:12899718 PMID:14568602 PMID:14706663 PMID:15160343 PMID:15232364 PMID:15660393 PMID:15855576 PMID:16434484 PMID:16511603 PMID:16637862 PMID:16681558 PMID:16707910 PMID:16798232 PMID:16949463 PMID:16970215 PMID:16970600 PMID:17058596 PMID:17168855 PMID:17180133 PMID:17288690 PMID:17397412 PMID:17409018 PMID:17559739 PMID:18265628 PMID:18403296 PMID:18611800 PMID:18695134 PMID:19015056 PMID:19212639 PMID:19787831 PMID:20189893 PMID:20303990 PMID:21860424 PMID:22174104 PMID:23077460 More...
|
RGD:2313843 RGD:2313896 |
NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
|
|
| G
|
Epor
|
erythropoietin receptor
|
susceptibility
|
ISO
|
associated with Lupus Erythematosus, Systemic;
|
RGD |
PMID:9808048 PMID:23080113 |
RGD:11041607 RGD:11041637 |
NCBI chrNW_004936659:1,468,391...1,473,880
Ensembl chrNW_004936659:1,468,634...1,473,880
|
|
| G
|
Ercc1
|
ERCC excision repair 1, endonuclease non-catalytic subunit
|
treatment
|
ISO
|
associated with Ovarian Neoplasms;DNA:SNP: :rs11615 (human)
|
RGD |
PMID:25881102 |
RGD:11252176 |
NCBI chrNW_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745
|
|
| G
|
G6pd
|
glucose-6-phosphate dehydrogenase
|
treatment
|
ISO
|
associated with Malaria, Falciparum;DNA:SNPs: :rs1050828, rs1050829 (human)
associated with Kidney Failure, Chronic
|
RGD |
PMID:24934404 PMID:25261071 PMID:25940869 |
RGD:10449105 RGD:10449108 RGD:10449114 |
NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
|
|
| G
|
Gata1
|
GATA binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Anemia
|
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768
|
|
| G
|
Gata2
|
GATA binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Anemia
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936798:406,258...414,785
Ensembl chrNW_004936798:406,258...414,931
|
|
| G
|
Gdf15
|
growth differentiation factor 15
|
treatment
|
ISO
|
associated with Multiple Myeloma
|
RGD |
PMID:25052873 |
RGD:11041612 |
NCBI chrNW_004936596:2,854,620...2,857,018
Ensembl chrNW_004936596:2,854,841...2,857,111
|
|
| G
|
Gpx1
|
glutathione peroxidase 1
|
treatment
|
ISO
|
associated with Kidney Failure, Chronic
|
RGD |
PMID:8939405 PMID:21422078 |
RGD:11352776 RGD:11352778 |
NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
|
|
| G
|
Gsr
|
glutathione-disulfide reductase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:5984971 |
|
NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
|
|
| G
|
Hamp
|
hepcidin antimicrobial peptide
|
treatment
|
ISO
|
associated with Inflammation
mRNA:increased expression:liver
associated with Multiple Myeloma
CTD Direct Evidence: marker/mechanism
associated with Malaria, Falciparum
|
RGD
CTD |
PMID:16434484 PMID:16627556 PMID:21411831 PMID:21730356 PMID:22689680 PMID:24086573 PMID:24357729 PMID:24895335 PMID:25052873 More...
|
RGD:11041612 RGD:11041614 RGD:11041618 RGD:11041619 RGD:11041620 RGD:11041773 |
NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686
|
|
| G
|
Hk1
|
hexokinase 1
|
|
ISO
|
DNA:SNP: :rs7072268 (human)
|
RGD |
PMID:19651813 |
RGD:11353879 |
NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
|
|
| G
|
Hoxd13
|
homeobox D13
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:27725143 |
|
NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651
|
|
| G
|
Igf2
|
insulin like growth factor 2
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:12090760 |
|
NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167
|
|
| G
|
Il10
|
interleukin 10
|
severity
|
ISO
|
associated with Malaria;protein:decreased expression:plasma
|
RGD |
PMID:9635949 |
RGD:11049182 |
NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
|
|
| G
|
Il1b
|
interleukin 1 beta
|
|
ISO
|
associated with Arthritis, Rheumatoid;protein:increased expression:serum
|
RGD |
PMID:3264697 |
RGD:10450886 |
NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
|
|
| G
|
Il2
|
interleukin 2
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:7678812 |
|
NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
|
|
| G
|
Il3
|
interleukin 3
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:8202718 PMID:12090760 |
|
NCBI chrNW_004936647:3,102,922...3,104,758
|
|
| G
|
Il6
|
interleukin 6
|
|
ISO
|
associated with Inflammation
associated with Colonic Neoplasms;protein:increased expression:serum (mouse)
|
RGD |
PMID:19265263 PMID:24357729 |
RGD:11041614 RGD:11060277 |
NCBI chrNW_004936549:7,015,595...7,016,246
|
|
| G
|
Ireb2
|
iron responsive element binding protein 2
|
treatment
|
ISO
|
mRNA:decreased expression:brain (rat)
|
RGD |
PMID:26584806 PMID:27602087 |
RGD:12903962 RGD:12903965 |
NCBI chrNW_004936471:36,547,552...36,601,327
Ensembl chrNW_004936471:36,547,500...36,600,636
|
|
| G
|
Itpa
|
inosine triphosphatase
|
treatment
|
ISO
|
associated with Hepatitis C, Chronic:DNA:SNP: :rs1127354 (human)
associated with Hepatitis C, Chronic:DNA:SNPs: :rs7270101, rs1127354 (human)
|
RGD |
PMID:22571903 PMID:26154744 |
RGD:11074414 RGD:14975306 |
NCBI chrNW_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992
|
|
| G
|
Jak2
|
Janus kinase 2
|
|
ISO
|
|
RGD |
PMID:9590174 |
RGD:737719 |
NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867
|
|
| G
|
Kras
|
KRAS proto-oncogene, GTPase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:27725143 |
|
NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
|
|
| G
|
LOC101968921
|
angiotensin-converting enzyme
|
|
ISO
|
associated with Carcinoma, Non-Small-Cell Lung;DNA:deletion:intron:IVS16+1464-1751del (human)
|
RGD |
PMID:18156303 PMID:23141116 |
RGD:11038916 RGD:11038919 |
NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
|
|
| G
|
LOC101969021
|
somatotropin
|
treatment
|
ISO
|
|
RGD |
PMID:11895216 |
RGD:11352732 |
NCBI chrNW_004936541:4,524,397...4,528,234
|
|
| G
|
LOC101970551
|
inhibitor of carbonic anhydrase
|
|
ISO
|
associated with Trypanosomiasis;protein:increased expression:serum
|
RGD |
PMID:23270806 |
RGD:7244377 |
NCBI chrNW_004936529:6,856,042...6,895,989
|
|
| G
|
LOC101970831
|
serotransferrin
|
treatment
|
ISO
|
associated with Heart Failure
|
RGD |
PMID:23680589 |
RGD:7244154 |
NCBI chrNW_004936529:6,917,762...6,947,512
Ensembl chrNW_004936529:6,855,958...6,947,394
|
|
| G
|
LOC101976500
|
haptoglobin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16637741 |
|
NCBI chrNW_004936475:21,841,054...21,845,821
|
|
| G
|
Mthfr
|
methylenetetrahydrofolate reductase
|
susceptibility
|
ISO
|
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma; DNA:SNP:: rs1801133(human)
CTD Direct Evidence: marker/mechanism
|
RGD
CTD |
PMID:19391036 PMID:25007187 |
RGD:11080979 |
NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
|
|
| G
|
Myd88
|
MYD88 innate immune signal transduction adaptor
|
ameliorates
|
ISO
|
|
RGD |
PMID:17615359 |
RGD:150519908 |
NCBI chrNW_004936473:27,672,237...27,676,339
Ensembl chrNW_004936473:27,671,797...27,676,372
|
|
| G
|
Nras
|
NRAS proto-oncogene, GTPase
|
|
ISO
|
ClinVar Annotator: match by term: Anemia
|
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590
|
|
| G
|
Nsd2
|
nuclear receptor binding SET domain protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Anemia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936477:21,460,442...21,531,563
Ensembl chrNW_004936477:21,460,478...21,534,909
|
|
| G
|
Nup98
|
nucleoporin 98 and 96 precursor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:27725143 |
|
NCBI chrNW_004936498:1,112,724...1,219,790
Ensembl chrNW_004936498:1,112,663...1,220,634
|
|
| G
|
Parp1
|
poly(ADP-ribose) polymerase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20561897 |
|
NCBI chrNW_004936526:3,102,468...3,147,601
Ensembl chrNW_004936526:3,102,039...3,147,642
|
|
| G
|
Pon1
|
paraoxonase 1
|
severity
treatment
|
ISO
|
associated with Gastrointestinal Neoplasms;protein:decreased activity:serum (human)
associated with Renal Insufficiency, Chronic
|
RGD |
PMID:17324148 PMID:18423402 |
RGD:11552571 RGD:11552579 |
NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591
|
|
| G
|
Prl
|
prolactin
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:10340396 |
|
NCBI chrNW_004936552:7,204,298...7,212,632
Ensembl chrNW_004936552:7,204,401...7,212,632
|
|
| G
|
Pth
|
parathyroid hormone
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:15354979 PMID:19578808 |
|
NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
|
|
| G
|
Ren
|
renin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:3524928 |
|
NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497
|
|
| G
|
Rpl11
|
ribosomal protein L11
|
|
ISO
|
ClinVar Annotator: match by term: Anemia
|
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936474:8,855,782...8,858,287
|
|
| G
|
Rps26
|
ribosomal protein S26
|
|
ISO
|
ClinVar Annotator: match by term: Anemia
|
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936646:452,371...454,787
Ensembl chrNW_004936646:452,128...457,428
|
|
| G
|
Slc11a2
|
solute carrier family 11 member 2
|
|
ISO
|
associated with Restless leg syndrome: DNA:SNPs:introns:
|
RGD |
PMID:17510944 |
RGD:5688718 |
NCBI chrNW_004936512:8,590,302...8,622,121
Ensembl chrNW_004936512:8,586,262...8,623,597
|
|
| G
|
Slc25a37
|
solute carrier family 25 member 37
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22253756 |
|
NCBI chrNW_004936555:6,980,239...7,016,490
Ensembl chrNW_004936555:6,980,194...7,018,134
|
|
| G
|
Slc40a1
|
solute carrier family 40 member 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16434484 |
|
NCBI chrNW_004936506:8,396,593...8,415,069
Ensembl chrNW_004936506:8,396,912...8,416,374
|
|
| G
|
Slc46a1
|
solute carrier family 46 member 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21346251 |
|
NCBI chrNW_004936538:4,549,032...4,642,870
Ensembl chrNW_004936538:4,549,599...4,555,415
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|
| G
|
Sod2
|
superoxide dismutase 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD
RGD |
PMID:8790408 PMID:20800516 |
RGD:1581262 |
NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
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|
| G
|
Spta1
|
spectrin alpha, erythrocytic 1
|
|
ISO
|
ClinVar Annotator: match by term: Anemia
|
ClinVar |
PMID:25741868 PMID:31038472 PMID:31723846 PMID:32581362 |
|
NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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|
| G
|
Sptb
|
spectrin beta, erythrocytic
|
|
ISO
|
ClinVar Annotator: match by term: Anemia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
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|
| G
|
Thoc5
|
THO complex subunit 5
|
|
ISO
|
|
RGD |
PMID:20051105 |
RGD:2317224 |
NCBI chrNW_004936657:3,465,707...3,503,966
Ensembl chrNW_004936657:3,461,789...3,503,976
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|
| G
|
Tnf
|
tumor necrosis factor
|
|
ISO
|
associated with HIV Infections;protein:increased expression:serum
associated with Arthritis, Rheumatoid
CTD Direct Evidence: marker/mechanism
|
RGD
CTD |
PMID:2324681 PMID:14613268 PMID:16566752 |
RGD:10450570 RGD:10450888 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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|
| G
|
Tnfrsf1a
|
TNF receptor superfamily member 1A
|
|
ISO
|
associated with Arthritis, Rheumatoid
|
RGD |
PMID:14613268 |
RGD:10450570 |
NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921
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|
| G
|
Tyms
|
thymidylate synthetase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19648163 |
|
NCBI chrNW_004936550:33,797...42,233
Ensembl chrNW_004936550:34,048...41,840
|
|
| G
|
Vcam1
|
vascular cell adhesion molecule 1
|
|
ISO
|
associated with Renal Insufficiency,Chronic;protein:increased expression:serum:
|
RGD |
PMID:18974656 |
RGD:7241202 |
NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048
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|
|
|
| G
|
Hmox1
|
heme oxygenase 1
|
|
ISO
|
associated with Anemia, Sickle Cell;DNA:repeat:promoter
|
RGD |
PMID:22966170 |
RGD:10755560 |
NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
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|
| G
|
Nos3
|
nitric oxide synthase 3
|
susceptibility
|
ISO
|
associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
|
RGD |
PMID:14687036 PMID:25263931 |
RGD:11533931 RGD:11533934 |
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
|
|
| G
|
Vegfa
|
vascular endothelial growth factor A
|
susceptibility
|
ISO
|
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
|
RGD |
PMID:22925497 PMID:25130874 |
RGD:11075233 RGD:11075235 |
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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|
|
|
| G
|
Gpx1
|
glutathione peroxidase 1
|
|
ISO
|
|
RGD |
PMID:24577940 |
RGD:11352811 |
NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
|
|
| G
|
LOC101976500
|
haptoglobin
|
|
ISO
|
|
RGD |
PMID:16760505 |
RGD:11041792 |
NCBI chrNW_004936475:21,841,054...21,845,821
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|
|
|
| G
|
Alpl
|
alkaline phosphatase, biomineralization associated
|
|
ISO
|
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome
|
ClinVar |
PMID:11438998 PMID:12815606 PMID:22397652 PMID:25731960 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936474:7,209,196...7,229,899
Ensembl chrNW_004936474:7,209,093...7,229,989
|
|
| G
|
Atr
|
ATR serine/threonine kinase
|
|
ISO
|
ClinVar Annotator: match by term: ATR-X-related syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936540:4,074,543...4,178,859
Ensembl chrNW_004936540:4,074,570...4,178,898
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|
| G
|
Atrx
|
ATRX chromatin remodeler
|
|
ISO
|
ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: ATR-X-related syndrome | ClinVar Annotator: match by term: ATRX-related disorder | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-thalassemia/intellectual disability syndrome
|
OMIM
ClinVar |
PMID:1770528 PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 PMID:7506096 PMID:7697714 PMID:7726225 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9536098 PMID:9598720 PMID:10204841 PMID:10398237 PMID:10417298 PMID:10632111 PMID:10660327 PMID:10995512 PMID:11050622 PMID:11449489 PMID:12116232 PMID:12673795 PMID:15508018 PMID:15591283 PMID:16125058 PMID:16199547 PMID:16763962 PMID:16813605 PMID:16935875 PMID:16955409 PMID:17576681 PMID:17579672 PMID:17609377 PMID:18409179 PMID:18414213 PMID:19291773 PMID:20500465 PMID:20655035 PMID:21029860 PMID:21267006 PMID:21421568 PMID:21505078 PMID:22129561 PMID:22659343 PMID:22796527 PMID:22995991 PMID:23352163 PMID:23681356 PMID:23820649 PMID:24082139 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24759409 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25640679 PMID:25644381 PMID:25741868 PMID:25936994 PMID:26350204 PMID:26467025 PMID:26539891 PMID:28027854 PMID:28293299 PMID:28371217 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29158550 PMID:29159939 PMID:29304373 PMID:29602769 PMID:29706636 PMID:29790871 PMID:29910053 PMID:31130284 PMID:31144778 PMID:31781420 PMID:32170002 PMID:32595695 PMID:32712949 PMID:33057194 PMID:35229910 PMID:35709690 PMID:35904121 PMID:35982159 PMID:36292677 PMID:36496321 More...
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|
NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620
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|
| G
|
Gba1
|
glucosylceramidase beta 1
|
|
ISO
|
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798
|
|
|
|
| G
|
Atrx
|
ATRX chromatin remodeler
|
|
ISO
|
ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia-myelodysplastic syndrome
|
OMIM
ClinVar |
PMID:3239563 PMID:9326931 PMID:10204841 PMID:10398237 PMID:10632111 PMID:10995512 PMID:12858175 PMID:15508018 PMID:15591283 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21421568 PMID:21505078 PMID:22129561 PMID:23681356 PMID:24327140 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25590979 PMID:25741868 PMID:26350204 PMID:28492532 PMID:31130284 PMID:33057194 PMID:35982159 More...
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|
NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620
|
|
|
|
| G
|
Anapc2
|
anaphase promoting complex subunit 2
|
|
ISO
|
protein:decreased expression:bone marrow (human)
|
RGD |
PMID:28968996 |
RGD:14696669 |
NCBI chrNW_004936669:797,475...808,952
Ensembl chrNW_004936669:797,318...811,721
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|
| G
|
Cd40lg
|
CD40 ligand
|
|
ISO
|
protein:decreased expression:serum (human)
|
RGD |
PMID:22537155 |
RGD:11352267 |
NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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|
| G
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Cd86
|
CD86 molecule
|
|
ISO
|
protein:increased expression:blood, dendritic cell (human)
|
RGD |
PMID:21234821 |
RGD:11354968 |
NCBI chrNW_004936536:8,414,491...8,481,712
Ensembl chrNW_004936536:8,414,485...8,472,888
|
|
| G
|
Csf2
|
colony stimulating factor 2
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:9885444 PMID:12221670 |
|
NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864
|
|
| G
|
Csf3
|
colony stimulating factor 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism|therapeutic
|
CTD |
PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 PMID:16553037 More...
|
|
NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
|
|
| G
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Ddx41
|
DEAD-box helicase 41
|
|
ISO
|
ClinVar Annotator: match by term: Aplastic anemia
|
ClinVar |
|
|
NCBI chrNW_004936597:1,787,830...1,793,352
Ensembl chrNW_004936597:1,787,537...1,793,866
|
|
| G
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Dkc1
|
dyskerin pseudouridine synthase 1
|
|
ISO
|
DNA:missense mutations:exon:p.V105G, p.S121A (human)
|
RGD |
PMID:26360549 |
RGD:11251733 |
NCBI chrNW_004936927:134,770...144,057
Ensembl chrNW_004936927:134,875...145,268
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|
| G
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Ephx1
|
epoxide hydrolase 1
|
disease_progression
susceptibility
|
ISO
|
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:missense mutation:exon:p.H139R (human)
|
RGD |
PMID:21228718 PMID:26999617 |
RGD:11252118 RGD:11252120 |
NCBI chrNW_004936526:2,589,254...2,652,831
Ensembl chrNW_004936526:2,614,059...2,653,286
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|
| G
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Fancm
|
FA complementation group M
|
|
ISO
|
ClinVar Annotator: match by term: Aplastic anemia
|
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29351780 PMID:33471991 More...
|
|
NCBI chrNW_004936583:4,085,802...4,145,621
|
|
| G
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Fas
|
Fas cell surface death receptor
|
|
ISO
|
protein:increased expression:CD34+ bone marrow cell
protein:decreased expression:plasma:
|
RGD |
PMID:7577642 PMID:11876982 |
RGD:11049159 RGD:11049449 |
NCBI chrNW_004936735:209,369...234,582
|
|
| G
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Flt3lg
|
fms related receptor tyrosine kinase 3 ligand
|
|
ISO
|
protein:increased expression:serum,plasma:
|
RGD |
PMID:7492765 |
RGD:11049505 |
NCBI chrNW_004936664:3,343,541...3,351,590
Ensembl chrNW_004936664:3,343,491...3,350,176
|
|
| G
|
Gata2
|
GATA binding protein 2
|
|
ISO
|
mRNA:decreased expression:CD34+ cell
|
RGD |
PMID:11328281 |
RGD:11049519 |
NCBI chrNW_004936798:406,258...414,785
Ensembl chrNW_004936798:406,258...414,931
|
|
| G
|
Gfi1b
|
growth factor independent 1B transcriptional repressor
|
|
ISO
|
mRNA:decreased expression:bone marrow cell:
|
RGD |
PMID:17156408 |
RGD:11040507 |
NCBI chrNW_004936487:19,414,135...19,417,465
Ensembl chrNW_004936487:19,414,135...19,417,465
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|
| G
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Ifng
|
interferon gamma
|
treatment
susceptibility
|
ISO
|
ClinVar Annotator: match by term: Aplastic anemia
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:polymorphism: : 874A>T(human)
DNA:repeats:intron:
|
OMIM
ClinVar
RGD |
PMID:15327519 PMID:18426658 PMID:20953611 PMID:25741868 |
RGD:10755688 RGD:10755690 RGD:10755710 |
NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
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|
| G
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Kit
|
KIT proto-oncogene, receptor tyrosine kinase
|
severity
|
ISO
|
|
RGD |
PMID:7694680 |
RGD:12910751 |
NCBI chrNW_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274
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|
| G
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Nbn
|
nibrin
|
|
ISO
|
ClinVar Annotator: match by term: Aplastic anemia
|
OMIM
ClinVar |
PMID:2952226 PMID:9536098 PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 PMID:10848790 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11288710 PMID:11325820 PMID:11953735 PMID:12123493 PMID:12353271 PMID:12433983 PMID:12447395 PMID:12505263 PMID:12508248 PMID:12621246 PMID:12708449 PMID:12833396 PMID:12845677 PMID:14559852 PMID:14973119 PMID:15048089 PMID:15185344 PMID:15279809 PMID:15338273 PMID:15451479 PMID:15474156 PMID:15593232 PMID:15964794 PMID:16033915 PMID:16199547 PMID:16415040 PMID:16474176 PMID:16544999 PMID:16770759 PMID:16810201 PMID:17103455 PMID:17496786 PMID:17576681 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18049891 PMID:18280732 PMID:18281469 PMID:18575580 PMID:18593981 PMID:18606567 PMID:18940477 PMID:19105185 PMID:19393249 PMID:19409520 PMID:19452044 PMID:19523210 PMID:19629396 PMID:19635536 PMID:19804756 PMID:19813148 PMID:19908051 PMID:20444919 PMID:20805886 PMID:21035407 PMID:21212067 PMID:21698754 PMID:22006311 PMID:22131123 PMID:22293976 PMID:22373003 PMID:22491912 PMID:22864661 PMID:22941933 PMID:23149842 PMID:23317186 PMID:23555315 PMID:24033266 PMID:24093751 PMID:24113799 PMID:24396275 PMID:24549055 PMID:24728327 PMID:24763289 PMID:24830725 PMID:24894818 PMID:25186627 PMID:25485873 PMID:25503501 PMID:25619955 PMID:25677497 PMID:25712764 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26270727 PMID:26315354 PMID:26467025 PMID:26534844 PMID:26564480 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26722329 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26845104 PMID:26898890 PMID:26976419 PMID:27109316 PMID:27148588 PMID:27149842 PMID:27150568 PMID:27153395 PMID:27433846 PMID:27443514 PMID:27498913 PMID:27616075 PMID:27621404 PMID:27978560 PMID:28076423 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28261280 PMID:28374160 PMID:28376765 PMID:28492532 PMID:28528518 PMID:28591191 PMID:28726808 PMID:28727877 PMID:28801450 PMID:28873162 PMID:28888541 PMID:29093764 PMID:29335925 PMID:29338072 PMID:29368341 PMID:29371908 PMID:29419426 PMID:29470806 PMID:29484706 PMID:29506128 PMID:29522266 PMID:29535844 PMID:29596542 PMID:29615459 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29678143 PMID:29785153 PMID:29915322 PMID:29922827 PMID:29961768 PMID:30043523 PMID:30130155 PMID:30256826 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30426508 PMID:30441849 PMID:30541756 PMID:30590007 PMID:30612635 PMID:30613976 PMID:30651582 PMID:30980208 PMID:30982232 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214711 PMID:31278556 PMID:31422574 PMID:31666926 PMID:31742824 PMID:31780696 PMID:31874108 PMID:31911633 PMID:32068069 PMID:32191290 PMID:32212377 PMID:32268276 PMID:32295079 PMID:32318955 PMID:32338768 PMID:32427313 PMID:32501622 PMID:32566746 PMID:32658311 PMID:32668560 PMID:32782288 PMID:32832836 PMID:32866190 PMID:32885271 PMID:32906206 PMID:32936981 PMID:32980694 PMID:33050356 PMID:33095795 PMID:33309985 PMID:33471974 PMID:33471991 PMID:33558524 PMID:33606809 PMID:33630411 PMID:33646313 PMID:33652732 PMID:33800431 PMID:33840814 PMID:34072463 PMID:34072659 PMID:34204722 PMID:34251444 PMID:34284872 PMID:34326862 PMID:34544220 PMID:34964003 PMID:34994648 PMID:35186721 PMID:35245693 PMID:35264596 PMID:35309086 PMID:35467778 PMID:35534704 PMID:35654374 PMID:35739269 PMID:35884425 PMID:36003761 PMID:36243179 PMID:36346689 PMID:36451132 PMID:36497135 PMID:36964972 PMID:36988593 PMID:38446568 More...
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|
NCBI chrNW_004936544:3,773,828...3,812,673
Ensembl chrNW_004936544:3,775,220...3,808,837
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| G
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Pola1
|
DNA polymerase alpha 1, catalytic subunit
|
|
ISO
|
ClinVar Annotator: match by term: Inherited aplastic anemia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936836:1,151...287,438
Ensembl chrNW_004936836:1,151...287,092
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|
| G
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Pot1
|
protection of telomeres 1
|
|
ISO
|
ClinVar Annotator: match by term: Inherited aplastic anemia
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201
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|
| G
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Prf1
|
perforin 1
|
|
ISO
|
ClinVar Annotator: match by term: Aplastic anemia
ClinVar Annotator: match by term: Aplastic anemia | ClinVar Annotator: match by term: Inherited aplastic anemia
|
OMIM
ClinVar |
PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:12725560 PMID:14576041 PMID:14739222 PMID:14757862 PMID:15205266 PMID:15365097 PMID:15632205 PMID:15728124 PMID:15755277 PMID:15755897 PMID:15840696 PMID:15924140 PMID:16278825 PMID:16374518 PMID:16443553 PMID:16860143 PMID:17164654 PMID:17266056 PMID:17311987 PMID:17328077 PMID:17356398 PMID:17477373 PMID:17525286 PMID:17576681 PMID:17601962 PMID:17606450 PMID:17627755 PMID:17674359 PMID:17873118 PMID:18074390 PMID:18190960 PMID:18710388 PMID:18799942 PMID:18927437 PMID:19484379 PMID:19487666 PMID:19595804 PMID:19639728 PMID:20015888 PMID:20019066 PMID:20055781 PMID:20092789 PMID:20197201 PMID:21152410 PMID:21234777 PMID:21600143 PMID:21674762 PMID:21881043 PMID:21931115 PMID:21959744 PMID:22186995 PMID:22249210 PMID:22437823 PMID:22970278 PMID:23073044 PMID:23073290 PMID:23160464 PMID:23180437 PMID:23255033 PMID:23264592 PMID:23287865 PMID:23443029 PMID:23592409 PMID:23734337 PMID:24309606 PMID:24390453 PMID:24578718 PMID:24744671 PMID:24916509 PMID:25047945 PMID:25110876 PMID:25215106 PMID:25233452 PMID:25297583 PMID:25326637 PMID:25354579 PMID:25577959 PMID:25741868 PMID:26184781 PMID:26199792 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26739415 PMID:26903364 PMID:27033761 PMID:27209435 PMID:27271812 PMID:27391055 PMID:27577878 PMID:27622035 PMID:27896523 PMID:28492532 PMID:28936583 PMID:29095814 PMID:29113160 PMID:29152263 PMID:29239076 PMID:29357941 PMID:29665027 PMID:29777376 PMID:30104219 PMID:30539918 PMID:30697212 PMID:30849948 PMID:30899265 PMID:31055813 PMID:31130284 PMID:31388699 PMID:31395954 PMID:31664448 PMID:31789783 PMID:32194620 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32696691 PMID:32914282 PMID:32986178 PMID:33225392 PMID:33365035 PMID:33570715 PMID:33658321 PMID:33746956 PMID:33822359 PMID:33942430 PMID:34083498 PMID:34117267 PMID:34170459 PMID:34677667 PMID:34992599 PMID:35835228 PMID:36706356 PMID:37390248 PMID:37467895 More...
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NCBI chrNW_004936521:8,057,874...8,060,695
Ensembl chrNW_004936521:8,057,874...8,060,695
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| G
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Rasa3
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RAS p21 protein activator 3
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ISO
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OMIM:609135
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MouseDO |
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NCBI chrNW_004937030:40,123...122,478
Ensembl chrNW_004937030:40,116...122,490
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| G
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Sbds
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SBDS ribosome maturation factor
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ISO
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ClinVar Annotator: match by term: Aplastic anemia | ClinVar Annotator: match by term: SBDS-related condition
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ClinVar
OMIM |
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:17916435 PMID:19148133 PMID:20301722 PMID:21536732 PMID:21695142 PMID:22491737 PMID:22934832 PMID:22935661 PMID:23115272 PMID:23351992 PMID:24033266 PMID:24388329 PMID:24629175 PMID:24898207 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26479198 PMID:26822237 PMID:27290639 PMID:27418648 PMID:30545121 PMID:32150944 PMID:32581362 PMID:34758064 PMID:36835434 More...
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NCBI chrNW_004936543:7,324,748...7,329,774
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| G
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Tert
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telomerase reverse transcriptase
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ISO
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ClinVar Annotator: match by term: Aplastic anemia
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ClinVar |
PMID:12167716 PMID:15814878 PMID:15885610 PMID:16627250 PMID:16990594 PMID:17460043 PMID:18042801 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20301779 PMID:20858879 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21520173 PMID:21602826 PMID:21635204 PMID:21931702 PMID:22424236 PMID:22476886 PMID:23538340 PMID:23716176 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25346280 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26360549 PMID:26365799 PMID:26580448 PMID:27354474 PMID:27540018 PMID:27848944 PMID:28104920 PMID:28154186 PMID:28492532 PMID:28677271 PMID:28813500 PMID:29036293 PMID:29146883 PMID:29483670 PMID:29596117 PMID:29625052 PMID:29891356 PMID:30203795 PMID:30426156 PMID:30523342 PMID:30791107 PMID:33003434 PMID:33214205 PMID:34019641 PMID:34565437 PMID:35776903 More...
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NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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| G
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Tgfb1
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transforming growth factor beta 1
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severity
susceptibility
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ISO
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protein:decreased expression: :
DNA:polymorphism: :509C>T(human)
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RGD |
PMID:24028718 PMID:24362456 |
RGD:11073601 RGD:11073606 |
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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| G
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Thpo
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thrombopoietin
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no_association
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ISO
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DNA:SNPs:exons:
DNA:mutation:cds:c.112C>T(human)
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RGD |
PMID:22686250 PMID:24085763 |
RGD:11073679 RGD:11073680 |
NCBI chrNW_004936578:5,508,669...5,515,984
Ensembl chrNW_004936578:5,509,111...5,515,103
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| G
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Tinf2
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TERF1 interacting nuclear factor 2
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ISO
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ClinVar Annotator: match by term: Aplastic anemia
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ClinVar |
PMID:20301779 |
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NCBI chrNW_004936722:320,171...323,703
Ensembl chrNW_004936722:320,917...324,492
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| G
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Tnf
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tumor necrosis factor
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ISO
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DNA:SNP:promoter:-308G>A (human)
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RGD |
PMID:12941546 |
RGD:10449452 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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| G
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Zcchc8
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zinc finger CCHC-type containing 8
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ISO
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ClinVar Annotator: match by term: Inherited aplastic anemia
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936558:2,058,513...2,085,686
Ensembl chrNW_004936558:2,058,928...2,084,639
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| G
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Adamts13
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ADAM metallopeptidase with thrombospondin type 1 motif 13
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 PMID:19880749 PMID:23715102 PMID:23878316 PMID:25741868 PMID:28492532 PMID:28748566 PMID:28866379 PMID:30046676 PMID:32183147 More...
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NCBI chrNW_004936669:3,449,259...3,478,471
Ensembl chrNW_004936669:3,456,494...3,478,512
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| G
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Baat
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bile acid-CoA:amino acid N-acyltransferase
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ISO
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ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
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ClinVar |
PMID:17182750 PMID:20301541 |
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NCBI chrNW_004936524:9,536,032...9,544,901
Ensembl chrNW_004936524:9,536,010...9,545,076
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| G
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C1galt1c1
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C1GALT1 specific chaperone 1
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:25741868 PMID:36599939 |
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NCBI chrNW_004936479:9,416,192...9,420,327
Ensembl chrNW_004936479:9,416,284...9,420,177
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| G
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C2
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complement C2
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ISO
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ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 PMID:16199547 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 PMID:35753512 More...
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NCBI chrNW_004936727:1,602,400...1,615,974
Ensembl chrNW_004936727:1,602,398...1,616,060
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| G
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C3
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complement C3
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susceptibility
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ISO
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ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
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ClinVar
OMIM |
PMID:1879662 PMID:1976733 PMID:6103091 PMID:7961791 PMID:9536098 PMID:12462331 PMID:14639503 PMID:16385454 PMID:17576681 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:19590060 PMID:20016463 PMID:20047980 PMID:20203157 PMID:20301500 PMID:20301541 PMID:20595690 PMID:21125405 PMID:21501302 PMID:21810760 PMID:22246034 PMID:22594991 PMID:22669319 PMID:22673887 PMID:23307876 PMID:23314101 PMID:23431077 PMID:23847193 PMID:23963626 PMID:24029428 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25188723 PMID:25608561 PMID:25741868 PMID:25879158 PMID:25951460 PMID:26283675 PMID:26559391 PMID:26613027 PMID:26767664 PMID:26830967 PMID:27814381 PMID:28011711 PMID:28187980 PMID:28492532 PMID:28596415 PMID:28614243 PMID:28752844 PMID:28939980 PMID:29410599 PMID:29500241 PMID:29566171 PMID:29670616 PMID:29888403 PMID:30046676 PMID:30131807 PMID:30377230 PMID:30662780 PMID:30773290 PMID:30890598 PMID:31865800 PMID:32265146 PMID:32342491 PMID:32424742 PMID:32950058 PMID:33213850 PMID:33456446 PMID:33609329 PMID:34169201 PMID:34631043 PMID:34714369 PMID:34748552 PMID:34973142 PMID:35295324 PMID:35372954 PMID:35373096 PMID:37369098 PMID:37466676 More...
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NCBI chrNW_004936588:3,985,732...4,023,221
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C3ar1
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complement C3a receptor 1
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ISO
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ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
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ClinVar |
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NCBI chrNW_004936892:347,547...355,143
Ensembl chrNW_004936892:347,842...349,296
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| G
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Cd46
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CD46 molecule
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susceptibility
severity
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ISO
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ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
DNA:mutations:cds:multiple (human)
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OMIM
ClinVar
RGD |
PMID:270646 PMID:2431077 PMID:3480783 PMID:9536098 PMID:9551389 PMID:10528197 PMID:11414356 PMID:14566051 PMID:14615110 PMID:16199547 PMID:16621965 PMID:16762990 PMID:16882452 PMID:17018561 PMID:17089378 PMID:17576681 PMID:19376828 PMID:20059470 PMID:20513133 PMID:20595690 PMID:21445332 PMID:21706448 PMID:21810760 PMID:23307876 PMID:23314101 PMID:23431077 PMID:23508668 PMID:23519521 PMID:23731345 PMID:23780777 PMID:24005975 PMID:24029428 PMID:24033266 PMID:24161037 PMID:24247905 PMID:24460647 PMID:24799305 PMID:24944786 PMID:25381125 PMID:25443527 PMID:25525159 PMID:25710174 PMID:25741868 PMID:25899302 PMID:25951460 PMID:26054645 PMID:26307634 PMID:26559391 PMID:26895476 PMID:27064621 PMID:27399110 PMID:28056875 PMID:28461395 PMID:28492532 PMID:28509134 PMID:28596415 PMID:28752844 PMID:29046944 PMID:29148534 PMID:29327071 PMID:29500241 PMID:29511899 PMID:29563339 PMID:29566171 PMID:29644059 PMID:30046676 PMID:30305631 PMID:30377230 PMID:30483272 PMID:30609409 PMID:30676336 PMID:30905589 PMID:31945341 PMID:32424742 PMID:33213850 PMID:33224962 PMID:34004375 PMID:34169200 PMID:34169201 PMID:35372954 PMID:37369098 PMID:37744338 PMID:39097532 More...
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RGD:11038684 |
NCBI chrNW_004936557:5,136,784...5,175,543
Ensembl chrNW_004936557:5,137,358...5,175,555
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| G
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Cep290
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centrosomal protein 290
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 PMID:31624253 PMID:33726816 PMID:34426522 PMID:34795310 More...
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NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422
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| G
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Cfb
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complement factor B
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ISO
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ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar
OMIM |
PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:9616367 PMID:15661753 PMID:16199547 PMID:16518403 PMID:16936732 PMID:17182750 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:23847193 PMID:24033266 PMID:24652797 PMID:24799305 PMID:24906628 PMID:25741868 PMID:26054779 PMID:26283675 PMID:26826462 PMID:27268256 PMID:27625572 PMID:27870017 PMID:28461395 PMID:28492532 PMID:28682564 PMID:29148534 PMID:29563339 PMID:34169201 PMID:34177949 PMID:34714369 PMID:35267578 PMID:35753512 PMID:36591303 More...
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NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215
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| G
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Cfi
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complement factor I
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ISO
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ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar
OMIM |
PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 PMID:16199547 PMID:16621965 PMID:17084897 PMID:17106690 PMID:17576681 PMID:17597211 PMID:17599974 PMID:17914026 PMID:18374984 PMID:18557729 PMID:18825487 PMID:19065647 PMID:19861685 PMID:19877009 PMID:20016463 PMID:20106822 PMID:20203157 PMID:20301541 PMID:20513133 PMID:20595690 PMID:21445332 PMID:22410797 PMID:22710145 PMID:23307876 PMID:23314101 PMID:23421077 PMID:23431077 PMID:23685748 PMID:23787556 PMID:23847193 PMID:24029428 PMID:24033266 PMID:24034049 PMID:24036952 PMID:24142231 PMID:24161037 PMID:25037630 PMID:25135378 PMID:25352734 PMID:25741868 PMID:25741909 PMID:25758434 PMID:25788521 PMID:25796589 PMID:25899302 PMID:25986072 PMID:26691988 PMID:26767664 PMID:26826462 PMID:27268256 PMID:27939104 PMID:28187980 PMID:28282489 PMID:28455885 PMID:28492532 PMID:28750931 PMID:28939980 PMID:29148534 PMID:29292855 PMID:29392637 PMID:29410599 PMID:29500241 PMID:29566171 PMID:29888403 PMID:29940891 PMID:30046676 PMID:30225434 PMID:30541482 PMID:30851964 PMID:30890598 PMID:30916388 PMID:30982675 PMID:31049720 PMID:31231365 PMID:31249236 PMID:31440263 PMID:31517156 PMID:31900968 PMID:32098865 PMID:32447592 PMID:32510551 PMID:32853637 PMID:32908800 PMID:33238263 PMID:33712733 PMID:33841858 PMID:34153144 PMID:34169201 PMID:34272986 PMID:34748552 PMID:35069568 PMID:35253925 PMID:35526386 PMID:35531992 PMID:35619721 PMID:35720299 PMID:35914225 PMID:36643920 PMID:36793547 PMID:36845135 PMID:37105825 PMID:37369098 PMID:37466676 PMID:37954579 More...
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NCBI chrNW_004936563:960,883...998,136
Ensembl chrNW_004936563:960,883...988,634
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Col4a3
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collagen type IV alpha 3 chain
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004936525:8,642,744...8,774,975
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Col4a4
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collagen type IV alpha 4 chain
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 PMID:12631110 PMID:14871398 PMID:17216251 PMID:17396119 PMID:19129241 PMID:20029656 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27884173 PMID:28059119 PMID:28492532 More...
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NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149
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Col4a5
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collagen type IV alpha 5 chain
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9848783 PMID:11462238 PMID:11572889 PMID:12028435 PMID:14514738 PMID:17396119 PMID:19344236 PMID:19965530 PMID:21505094 PMID:23144074 PMID:23720012 PMID:24033266 PMID:24046192 PMID:24304881 PMID:25741868 PMID:26467025 PMID:27627812 PMID:28492532 PMID:30577881 PMID:30773290 PMID:35132093 PMID:39413162 More...
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NCBI chrNW_004936499:6,143,736...6,360,565
Ensembl chrNW_004936499:6,144,857...6,360,368
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Lamb2
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laminin subunit beta 2
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337
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Mmachc
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metabolism of cobalamin associated C
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ISO
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ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 PMID:18245139 PMID:19370762 PMID:19760748 PMID:20549364 PMID:20610126 PMID:20631720 PMID:23757202 PMID:23837176 PMID:24033266 PMID:24126030 PMID:24599607 PMID:25687216 PMID:25741868 PMID:25894566 PMID:26467025 PMID:28492532 PMID:28835862 PMID:29294253 PMID:29302025 PMID:29396438 PMID:31137025 PMID:31279840 PMID:32164588 PMID:33562640 PMID:36338977 More...
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NCBI chrNW_004936474:26,636,277...26,641,486
Ensembl chrNW_004936474:26,636,245...26,641,486
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Myh9
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myosin heavy chain 9
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ISO
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ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262
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Nlrp3
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NLR family pyrin domain containing 3
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936864:709,693...732,119
Ensembl chrNW_004936864:709,709...731,718
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Nphp4
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nephrocystin 4
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936623:802,152...904,198
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Pla2r1
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phospholipase A2 receptor 1
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936469:18,679,840...18,789,655
Ensembl chrNW_004936469:18,679,914...18,789,369
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Plg
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plasminogen
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936489:11,775,243...11,808,482
Ensembl chrNW_004936489:11,775,243...11,805,651
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Smarcal1
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SNF2 related chromatin remodeling annealing helicase 1
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:28492532 PMID:28844315 |
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NCBI chrNW_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047
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Thbd
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thrombomodulin
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no_association
severity
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ISO
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DNA:SNPs:5' utr, 3' utr:multiple
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: THBD-related condition
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
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RGD
OMIM
ClinVar |
PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 PMID:10460600 PMID:11245641 PMID:11552992 PMID:11986219 PMID:12139752 PMID:15574195 PMID:17677000 PMID:19625716 PMID:20595690 PMID:23314101 PMID:23332921 PMID:24029428 PMID:24799305 PMID:24933457 PMID:25135378 PMID:25741868 PMID:27904864 PMID:28492532 PMID:28939980 PMID:31064749 PMID:31118930 PMID:32890900 PMID:32935436 PMID:34355501 PMID:34970867 PMID:37120715 PMID:37466676 More...
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RGD:11038684 RGD:11038691 |
NCBI chrNW_004936620:2,563,900...2,568,117
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Tmem67
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transmembrane protein 67
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179
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Trpc6
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transient receptor potential cation channel subfamily C member 6
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:19380626 PMID:25741868 |
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NCBI chrNW_004936551:6,173,588...6,282,971
Ensembl chrNW_004936551:6,174,122...6,282,925
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Wt1
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WT1 transcription factor
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ISO
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ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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ClinVar |
PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:25110071 PMID:25741868 PMID:25932436 PMID:26725263 PMID:28492532 More...
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NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693
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Ctla4
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cytotoxic T-lymphocyte associated protein 4
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susceptibility
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ISO
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DNA:polymorphism:exon:49G>A(p.T17A)(human)
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RGD |
PMID:12555221 |
RGD:11352242 |
NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
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Il10
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interleukin 10
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treatment
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ISO
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RGD |
PMID:12093879 |
RGD:11049457 |
NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
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Slc14a1
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solute carrier family 14 member 1 (Kidd blood group)
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:6427987 |
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NCBI chrNW_004936517:1,015,069...1,039,474
Ensembl chrNW_004936517:1,015,036...1,039,529
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Slc4a1
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solute carrier family 4 member 1 (Diego blood group)
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ISO
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RGD |
PMID:8325343 |
RGD:10450476 |
NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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Socs1
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suppressor of cytokine signaling 1
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ISO
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ClinVar Annotator: match by term: Idiopathic autoimmune hemolytic anemia
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ClinVar |
PMID:32853638 PMID:33087723 |
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NCBI chrNW_004936530:9,312,965...9,315,593
Ensembl chrNW_004936530:9,312,965...9,316,165
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Tslp
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thymic stromal lymphopoietin
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ISO
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OMIM:205700
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MouseDO |
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NCBI chrNW_004936531:5,495,872...5,500,462
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Dnase2
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deoxyribonuclease 2, lysosomal
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ISO
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ClinVar Annotator: match by term: Autoinflammatory-pancytopenia syndrome | ClinVar Annotator: match by term: DNASE2-related condition
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OMIM
ClinVar |
PMID:9536098 PMID:17576681 PMID:24242851 PMID:25741868 PMID:28492532 PMID:29259162 PMID:31775019 More...
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NCBI chrNW_004936659:1,943,673...1,945,994
Ensembl chrNW_004936659:1,941,372...1,946,087
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Hspa9
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heat shock protein family A (Hsp70) member 9
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ISO
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ClinVar Annotator: match by term: Anemia, sideroblastic, 4 | ClinVar Annotator: match by term: HSPA9-related condition
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OMIM
ClinVar |
PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 PMID:26598328 PMID:28492532 More...
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NCBI chrNW_004936531:7,702,186...7,716,428
Ensembl chrNW_004936531:7,702,695...7,716,380
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Ren
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renin
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ISO
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ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE
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OMIM
ClinVar |
PMID:9536098 PMID:16116425 PMID:16199547 PMID:17576681 PMID:19664745 PMID:21036942 PMID:21084044 PMID:21473025 PMID:22095942 PMID:25741868 PMID:28492532 PMID:32750457 PMID:33532864 PMID:33574344 PMID:37283036 More...
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NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497
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Slc25a38
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solute carrier family 25 member 38
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ISO
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ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory
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OMIM
ClinVar |
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 PMID:25741868 PMID:25985931 PMID:26636621 PMID:28492532 PMID:28772256 PMID:29499877 PMID:29786897 PMID:30214775 PMID:30735661 PMID:31338833 PMID:31642437 PMID:32605921 PMID:32790119 PMID:33256393 PMID:34298585 More...
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NCBI chrNW_004936473:28,602,920...28,621,024
Ensembl chrNW_004936473:28,603,445...28,621,355
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Arsa
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arylsulfatase A
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ISO
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ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936629:187,281...205,493
Ensembl chrNW_004936629:187,275...191,008
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Itgb3
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integrin subunit beta 3
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ISO
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DNA:missense mutation: :p.L33P (human)
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RGD |
PMID:18685811 |
RGD:10755472 |
NCBI chrNW_004936541:2,822,789...2,871,069
Ensembl chrNW_004936541:2,815,738...2,871,035
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LOC101968921
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angiotensin-converting enzyme
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ISO
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protein:increased expression:serum (human)
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RGD |
PMID:21290180 |
RGD:25671452 |
NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
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Mthfr
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methylenetetrahydrofolate reductase
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susceptibility
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ISO
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DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
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RGD |
PMID:18685811 |
RGD:10755472 |
NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
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Serpine1
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serpin family E member 1
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susceptibility
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ISO
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DNA:polymorphism:promoter:
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RGD |
PMID:18685811 |
RGD:10755472 |
NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
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Abcc6
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ATP binding cassette subfamily C member 6
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ISO
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mRNA, protein:decreased expression:liver
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RGD |
PMID:21281810 |
RGD:11038787 |
NCBI chrNW_004936501:3,469,928...3,508,577
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Apob
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apolipoprotein B
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ISO
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protein:decreased expression:plasma (human)
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RGD |
PMID:9180253 |
RGD:11354944 |
NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144
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Apoe
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apolipoprotein E
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ISO
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RGD |
PMID:22705320 |
RGD:11039491 |
NCBI chrNW_004936706:1,512,438...1,516,805
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Bcl11a
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BCL11 transcription factor A
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severity
treatment
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ISO
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DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)
DNA:snp:intron:c.386-17267T>C (rs10189857) (human)
DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)
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RGD |
PMID:22258351 PMID:23541515 PMID:25574177 PMID:25751242 |
RGD:11099969 RGD:11100005 RGD:11100008 RGD:11100011 |
NCBI chrNW_004936491:6,021,340...6,118,103
Ensembl chrNW_004936491:6,021,343...6,118,568
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Cacna1h
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calcium voltage-gated channel subunit alpha1 H
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:31542421 |
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NCBI chrNW_004936694:2,702,224...2,724,574
Ensembl chrNW_004936694:2,702,964...2,724,416
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| G
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Cad
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carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:38827 |
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NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
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Cfb
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complement factor B
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ISO
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protein:decreased expression:serum
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RGD |
PMID:6914868 |
RGD:11041572 |
NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215
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| G
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Col1a1
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collagen type I alpha 1 chain
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ISO
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DNA:SNP
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RGD |
PMID:12803121 |
RGD:11041179 |
NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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Dhodh
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dihydroorotate dehydrogenase (quinone)
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:38827 |
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NCBI chrNW_004936475:21,863,627...21,877,660
Ensembl chrNW_004936475:21,862,166...21,877,711
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| G
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Epo
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erythropoietin
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:16225658 |
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NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
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| G
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Gata1
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GATA binding protein 1
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treatment
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ISO
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RGD |
PMID:16696909 |
RGD:10450613 |
NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768
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Gsr
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glutathione-disulfide reductase
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ISO
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protein:decreased activity:erythrocyte:
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RGD |
PMID:20126808 |
RGD:11052141 |
NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
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| G
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Hamp
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hepcidin antimicrobial peptide
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treatment
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ISO
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CTD Direct Evidence: marker/mechanism
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RGD
CTD |
PMID:16755567 PMID:17299088 PMID:23905873 |
RGD:11041616 RGD:11041617 |
NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686
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| G
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Hbs1l
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HBS1 like translational GTPase
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ISO
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DNA:SNP:exon:32C>T (human)
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RGD |
PMID:18839276 |
RGD:11353877 |
NCBI chrNW_004936560:2,591,925...2,679,436
Ensembl chrNW_004936560:2,591,821...2,679,428
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| G
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Hfe
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homeostatic iron regulator
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no_association
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ISO
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DNA:missense mutations: :p.H63D, p.S65C (human)
DNA:missense mutation: :p.C282Y (human)
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RGD |
PMID:14703689 PMID:17160266 |
RGD:10755489 RGD:10755537 |
NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580
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Igfbp3
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insulin like growth factor binding protein 3
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ISO
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protein:decreased expression:serum:
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RGD |
PMID:9666877 |
RGD:12743604 |
NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306
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| G
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Il1a
|
interleukin 1 alpha
|
|
ISO
|
mRNA:decreased expression:blood, mononuclear cell
|
RGD |
PMID:21576933 |
RGD:11051969 |
NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315
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|
| G
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Il6
|
interleukin 6
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:23905873 |
RGD:11041617 |
NCBI chrNW_004936549:7,015,595...7,016,246
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| G
|
Klf1
|
KLF transcription factor 1
|
|
ISO
|
OMIM:187550 | OMIM:603902 | OMIM:613985
|
MouseDO |
|
|
NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
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|
| G
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Lcn2
|
lipocalin 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16755567 |
|
NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221
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| G
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LOC101969021
|
somatotropin
|
treatment
|
ISO
|
|
RGD |
PMID:2045623 |
RGD:11352730 |
NCBI chrNW_004936541:4,524,397...4,528,234
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|
| G
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LOC101976500
|
haptoglobin
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|
ISO
|
|
RGD |
PMID:22885163 |
RGD:11041795 |
NCBI chrNW_004936475:21,841,054...21,845,821
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| G
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Pjvk
|
pejvakin
|
|
ISO
|
ClinVar Annotator: match by term: Mediterranean anemia
|
ClinVar |
PMID:17301963 PMID:17718875 PMID:22903915 PMID:28492532 |
|
NCBI chrNW_004936509:7,670,557...7,677,480
Ensembl chrNW_004936509:7,670,325...7,677,581
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| G
|
Pon1
|
paraoxonase 1
|
|
ISO
|
protein:decreased activity:serum (human)
|
RGD |
PMID:26608512 |
RGD:11552583 |
NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591
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| G
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Tert
|
telomerase reverse transcriptase
|
|
ISO
|
mRNA:increased expression:bone marrow
|
RGD |
PMID:18466174 |
RGD:11038664 |
NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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| G
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Tfr2
|
transferrin receptor 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:liver:
|
CTD
RGD |
PMID:16755567 |
RGD:11062138 |
NCBI chrNW_004936543:667,570...681,872
Ensembl chrNW_004936543:668,157...682,174
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| G
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Tfrc
|
transferrin receptor
|
|
ISO
|
mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism
|
RGD
CTD |
PMID:16755567 |
RGD:11062138 |
NCBI chrNW_004936784:696,738...728,385
Ensembl chrNW_004936784:696,713...728,543
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| G
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Tnf
|
tumor necrosis factor
|
|
ISO
|
DNA:polymorphisms:3' utr
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RGD |
PMID:19103526 |
RGD:10449458 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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| G
|
Tnnt2
|
troponin T2, cardiac type
|
|
ISO
|
ClinVar Annotator: match by term: Mediterranean anemia
|
ClinVar |
PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 PMID:9201030 PMID:10085122 PMID:10521296 PMID:10617660 PMID:11346248 PMID:11560853 PMID:11606294 PMID:11968089 PMID:12084606 PMID:12860912 PMID:14640471 PMID:14722098 PMID:16115294 PMID:16326803 PMID:17612745 PMID:18029407 PMID:18403758 PMID:19880069 PMID:20414521 PMID:22321274 PMID:22334656 PMID:22579624 PMID:23233322 PMID:23494605 PMID:23711808 PMID:24033266 PMID:24510615 PMID:25741868 PMID:26507537 PMID:28492532 PMID:28615295 PMID:29572196 More...
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|
NCBI chrNW_004936567:3,052,167...3,069,077
Ensembl chrNW_004936567:3,056,845...3,068,887
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| G
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Umps
|
uridine monophosphate synthetase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:38827 |
|
NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141
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|
|
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| G
|
Pon1
|
paraoxonase 1
|
|
ISO
|
protein:decreased activity:plasma (human)
|
RGD |
PMID:17617032 |
RGD:11553831 |
NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591
|
|
|
|
| G
|
Srp72
|
signal recognition particle 72
|
|
ISO
|
ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition
|
OMIM
ClinVar |
PMID:9536098 PMID:17576681 PMID:22541560 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936482:18,687,088...18,721,734
Ensembl chrNW_004936482:18,687,046...18,721,757
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|
|
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| G
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Cd59
|
CD59 molecule (CD59 blood group)
|
|
ISO
|
ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | ClinVar Annotator: match by term: CD59-related condition
|
OMIM
ClinVar |
PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936533:4,242,589...4,263,136
Ensembl chrNW_004936533:4,242,484...4,264,421
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|
|
|
| G
|
Ephb4
|
EPH receptor B4
|
|
ISO
|
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7
|
OMIM
ClinVar |
PMID:21348050 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:32267001 PMID:33240318 PMID:33864021 PMID:38151336 More...
|
|
NCBI chrNW_004936543:794,837...811,637
Ensembl chrNW_004936543:794,725...811,637
|
|
| G
|
Mdfic
|
MyoD family inhibitor domain containing
|
|
ISO
|
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY
|
ClinVar |
PMID:25741868 PMID:35235341 |
|
NCBI chrNW_004936589:3,838,064...3,925,029
Ensembl chrNW_004936589:3,838,064...3,925,029
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|
|
|
| G
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Eef1d
|
eukaryotic translation elongation factor 1 delta
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|
ISO
|
ClinVar Annotator: match by term: Chromosome 5q deletion syndrome
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936470:8,538,899...8,553,645
Ensembl chrNW_004936470:8,538,821...8,553,970
|
|
| G
|
Klf1
|
KLF transcription factor 1
|
|
ISO
|
mRNA:decreased expression:bone marrow, blood
|
RGD |
PMID:22965552 |
RGD:10769343 |
NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
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|
| G
|
Rps14
|
ribosomal protein S14
|
|
ISO
|
|
OMIM |
|
|
NCBI chrNW_004936504:4,495,930...4,500,843
Ensembl chrNW_004936504:4,495,693...4,502,695
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|
|
|
| G
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Mthfd1
|
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
|
|
ISO
|
ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
|
ClinVar
OMIM |
PMID:11004530 PMID:15633187 PMID:16199547 PMID:16315005 PMID:16552426 PMID:17894836 PMID:18277167 PMID:21813566 PMID:23296427 PMID:23402911 PMID:24033266 PMID:25548164 PMID:25633902 PMID:25741868 PMID:27707659 PMID:28492532 PMID:31203817 PMID:31589614 PMID:32414565 More...
|
|
NCBI chrNW_004936495:8,100,977...8,170,244
Ensembl chrNW_004936495:8,100,912...8,171,800
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|
|
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| G
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Cdan1
|
codanin 1
|
|
ISO
|
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
|
ClinVar |
|
|
NCBI chrNW_004936471:5,988,215...6,001,446
Ensembl chrNW_004936471:5,988,738...6,001,649
|
|
| G
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Cdin1
|
CDAN1 interacting nuclease 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
|
|
NCBI chrNW_004936471:501,005...715,208
Ensembl chrNW_004936471:500,978...715,885
|
|
| G
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Diaph3
|
diaphanous related formin 3
|
|
ISO
|
|
MouseDO |
|
|
NCBI chrNW_004936705:1,381,025...1,833,890
Ensembl chrNW_004936705:1,380,445...1,731,280
|
|
| G
|
Irak4
|
interleukin 1 receptor associated kinase 4
|
|
ISO
|
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936512:2,248,116...2,272,002
Ensembl chrNW_004936512:2,248,146...2,272,002
|
|
| G
|
Kif23
|
kinesin family member 23
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
|
|
NCBI chrNW_004936471:29,154,618...29,177,865
Ensembl chrNW_004936471:29,150,205...29,177,769
|
|
| G
|
Klf1
|
KLF transcription factor 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
|
|
NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
|
|
| G
|
Man2a1
|
mannosidase alpha class 2A member 1
|
|
ISO
|
OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631
|
MouseDO |
|
|
NCBI chrNW_004936531:4,331,354...4,494,110
Ensembl chrNW_004936531:4,331,200...4,494,131
|
|
| G
|
Sec23b
|
SEC23 homolog B, COPII component
|
|
ISO
|
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
|
ClinVar |
PMID:19561605 PMID:24033266 PMID:25044164 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936485:1,743,848...1,781,824
Ensembl chrNW_004936485:1,741,544...1,782,034
|
|
| G
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Ube2q2
|
ubiquitin conjugating enzyme E2 Q2
|
|
ISO
|
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936471:36,257,454...36,314,634
Ensembl chrNW_004936471:36,257,454...36,314,634
|
|
| G
|
Vps4a
|
vacuolar protein sorting 4 homolog A
|
|
ISO
|
ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia
|
ClinVar |
PMID:25741868 PMID:33186543 PMID:33186545 PMID:33460484 |
|
NCBI chrNW_004936475:19,432,311...19,444,223
Ensembl chrNW_004936475:19,432,229...19,444,223
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|
|
|
| G
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Cdan1
|
codanin 1
|
|
ISO
|
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I
|
ClinVar |
PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 PMID:16754775 PMID:17576681 PMID:18081704 PMID:18575862 PMID:20301759 PMID:22407294 PMID:23065504 PMID:24196372 PMID:25741868 PMID:25741869 PMID:26467025 PMID:27432187 PMID:27827297 PMID:28102861 PMID:28132690 PMID:28492532 PMID:28755517 PMID:29031773 PMID:29599085 PMID:29668551 PMID:29676459 PMID:29901818 PMID:29936674 PMID:30487145 PMID:30836435 PMID:31183007 PMID:31760486 PMID:31900952 PMID:32160409 PMID:32518175 PMID:33401150 PMID:33777192 PMID:34493867 PMID:34782754 PMID:35012925 PMID:35417566 PMID:37432431 More...
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|
NCBI chrNW_004936471:5,988,215...6,001,446
Ensembl chrNW_004936471:5,988,738...6,001,649
|
|
|
|
| G
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Cdan1
|
codanin 1
|
|
ISO
|
ClinVar Annotator: match by term: CDAN1-related condition | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia
|
OMIM
ClinVar |
PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 PMID:16754775 PMID:17576681 PMID:18081704 PMID:18575862 PMID:20301759 PMID:22407294 PMID:24196372 PMID:25741868 PMID:25741869 PMID:26467025 PMID:27432187 PMID:27827297 PMID:28102861 PMID:28492532 PMID:28755517 PMID:29031773 PMID:29599085 PMID:29668551 PMID:29676459 PMID:29901818 PMID:29936674 PMID:30487145 PMID:30836435 PMID:31760486 PMID:31900952 PMID:32160409 PMID:32518175 PMID:33401150 PMID:34493867 PMID:34782754 PMID:35012925 PMID:35417566 PMID:37432431 PMID:38666530 More...
|
|
NCBI chrNW_004936471:5,988,215...6,001,446
Ensembl chrNW_004936471:5,988,738...6,001,649
|
|
|
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| G
|
Cdin1
|
CDAN1 interacting nuclease 1
|
|
ISO
|
ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | ClinVar Annotator: match by term: CDA, TYPE Ib | ClinVar Annotator: match by term: CDIN1-related condition
|
OMIM
ClinVar |
PMID:9220189 PMID:16643456 PMID:23716552 PMID:25741868 PMID:28492532 PMID:29885034 PMID:31191338 More...
|
|
NCBI chrNW_004936471:501,005...715,208
Ensembl chrNW_004936471:500,978...715,885
|
|
|
|
| G
|
Sec23b
|
SEC23 homolog B, COPII component
|
|
ISO
|
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE
|
OMIM
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19561605 PMID:19621418 PMID:20015893 PMID:20381388 PMID:20941788 PMID:21252497 PMID:21850656 PMID:22208203 PMID:22428539 PMID:23453696 PMID:23935019 PMID:24033266 PMID:24196372 PMID:24724984 PMID:24801240 PMID:25044164 PMID:25251786 PMID:25418799 PMID:25741868 PMID:25912935 PMID:26522472 PMID:27471141 PMID:28492532 PMID:28879554 PMID:29031773 PMID:29188620 PMID:29846281 PMID:29901818 PMID:30747246 PMID:31589614 PMID:31593005 PMID:32581362 PMID:32641076 PMID:33159567 PMID:34093240 PMID:34201899 PMID:34365611 PMID:34426522 PMID:34662886 PMID:34954140 PMID:35820731 PMID:37373084 PMID:37455305 PMID:37946251 PMID:37996759 PMID:38984100 More...
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|
NCBI chrNW_004936485:1,743,848...1,781,824
Ensembl chrNW_004936485:1,741,544...1,782,034
|
|
|
|
| G
|
Kif23
|
kinesin family member 23
|
|
ISO
|
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition
|
OMIM
ClinVar |
PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 PMID:25741868 PMID:28492532 PMID:33159567 More...
|
|
NCBI chrNW_004936471:29,154,618...29,177,865
Ensembl chrNW_004936471:29,150,205...29,177,769
|
|
|
|
| G
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Racgap1
|
Rac GTPase activating protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb | ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive
|
OMIM
ClinVar |
PMID:34818416 PMID:36200420 |
|
NCBI chrNW_004936512:7,665,144...7,696,615
Ensembl chrNW_004936512:7,665,208...7,689,112
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|
|
|
| G
|
Gcdh
|
glutaryl-CoA dehydrogenase
|
|
ISO
|
ClinVar Annotator: match by term: ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN
|
ClinVar |
PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31536184 More...
|
|
NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
|
|
| G
|
Klf1
|
KLF transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN | ClinVar Annotator: match by term: CDA, TYPE IVa | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: KLF1-related condition
|
OMIM
ClinVar |
PMID:1659863 PMID:18487511 PMID:21055716 PMID:21778342 PMID:23125034 PMID:23522491 PMID:24033266 PMID:24443441 PMID:25724378 PMID:25741868 PMID:27013732 PMID:28102861 PMID:28361594 PMID:28492532 PMID:29200155 PMID:29300242 PMID:29396846 PMID:31645145 PMID:31818881 PMID:34227100 More...
|
|
NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
|
|
|
|
| G
|
Klf1
|
KLF transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IVb | ClinVar Annotator: match by term: CDA, TYPE IVb
|
OMIM
ClinVar |
PMID:18487511 PMID:21778342 PMID:24443441 PMID:25724378 PMID:28361594 PMID:28492532 PMID:31645145 PMID:34227100 More...
|
|
NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
|
|
|
|
| G
|
C3
|
complement C3
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hemolytic anemia
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936588:3,985,732...4,023,221
|
|
| G
|
Cd46
|
CD46 molecule
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hemolytic anemia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936557:5,136,784...5,175,543
Ensembl chrNW_004936557:5,137,358...5,175,555
|
|
| G
|
G6pd
|
glucose-6-phosphate dehydrogenase
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hemolytic anemia
|
ClinVar |
PMID:5316621 PMID:25741868 PMID:28492532 PMID:29300386 PMID:32641076 PMID:33128437 More...
|
|
NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
|
|
| G
|
Gpi
|
glucose-6-phosphate isomerase
|
|
ISO
|
Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P)
DNA:point_mutations:CDS:compound heterozygote for amino acids G158S and R346H
|
RGD |
PMID:8499925 PMID:9856489 |
RGD:1600631 RGD:1600632 |
NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788
|
|
| G
|
Gsr
|
glutathione-disulfide reductase
|
|
ISO
|
protein:reduced_expression:erythrocytes,leukocytes:hemolysis triggered by consumption of fava beans
|
RGD |
PMID:947404 |
RGD:1600697 |
NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
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| G
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Rhce
|
Rh blood group CcEe antigens
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:9657769 |
|
NCBI chrNW_004936474:10,036,478...10,074,332
Ensembl chrNW_004936474:10,041,431...10,074,332
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| G
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Slc4a1
|
solute carrier family 4 member 1 (Diego blood group)
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|
ISO
|
DNA:missense mutations:cds:multiple (human)
|
RGD |
PMID:8841202 PMID:16227998 |
RGD:10450505 RGD:10450509 |
NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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| G
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Spta1
|
spectrin alpha, erythrocytic 1
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|
ISO
|
ClinVar Annotator: match by term: Congenital hemolytic anemia
|
ClinVar |
PMID:25741868 PMID:26002053 PMID:28492532 |
|
NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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| G
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Sptb
|
spectrin beta, erythrocytic
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hemolytic anemia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
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|
|
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| G
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Cad
|
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:38827 |
|
NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
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| G
|
Gata1
|
GATA binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hypoplastic anemia
|
ClinVar |
PMID:871527 PMID:3164080 PMID:9536098 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16199547 PMID:16783379 PMID:16783397 PMID:17148589 PMID:17209061 PMID:17576681 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 PMID:24056718 PMID:24196768 PMID:24453067 PMID:24728327 PMID:24766296 PMID:24952648 PMID:25251786 PMID:25615715 PMID:25741868 PMID:27353457 PMID:28492532 PMID:29146883 PMID:30503522 PMID:31064749 PMID:31606922 PMID:32681702 PMID:33611093 PMID:35030251 PMID:37858167 PMID:38103590 More...
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NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768
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| G
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Rpl11
|
ribosomal protein L11
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hypoplastic anemia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936474:8,855,782...8,858,287
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|
| G
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Rpl19
|
ribosomal protein L19
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hypoplastic anemia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936490:14,471,200...14,476,206
Ensembl chrNW_004936490:14,471,025...14,476,541
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| G
|
Rpl26
|
ribosomal protein L26
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hypoplastic anemia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936595:1,603,913...1,609,125
Ensembl chrNW_004936595:1,603,413...1,609,132
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|
| G
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Rpl5
|
ribosomal protein L5
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hypoplastic anemia
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936537:6,341,961...6,344,831
Ensembl chrNW_004936537:6,342,028...6,347,977
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|
| G
|
Rps19
|
ribosomal protein S19
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hypoplastic anemia
|
ClinVar |
PMID:9988267 PMID:10590074 PMID:10753603 PMID:12586610 PMID:12750732 PMID:15384984 PMID:16159874 PMID:17053056 PMID:17082006 PMID:17517689 PMID:17726054 PMID:18217898 PMID:18412286 PMID:20378560 PMID:20395159 PMID:20606162 PMID:20960466 PMID:22381658 PMID:24952648 PMID:25741868 PMID:27882484 PMID:28102861 PMID:28492532 PMID:29766597 PMID:30503522 PMID:35923690 More...
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|
NCBI chrNW_004936706:568,443...575,973
Ensembl chrNW_004936706:568,364...575,126
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| G
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Rps24
|
ribosomal protein S24
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hypoplastic anemia
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936521:1,562,013...1,568,280
Ensembl chrNW_004936521:1,561,992...1,568,280
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|
| G
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Rps7
|
ribosomal protein S7
|
|
ISO
|
ClinVar Annotator: match by term: Congenital hypoplastic anemia
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936532:1,734,993...1,740,202
Ensembl chrNW_004936532:1,734,983...1,742,151
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| G
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Umps
|
uridine monophosphate synthetase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:38827 |
|
NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141
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|
|
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| G
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Cblif
|
cobalamin binding intrinsic factor
|
|
ISO
|
ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency
|
OMIM
ClinVar |
PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 PMID:17576681 PMID:18620679 PMID:19036097 PMID:20408840 PMID:22854512 PMID:22929189 PMID:24033266 PMID:25308559 PMID:25640679 PMID:25741868 PMID:27577878 PMID:28492532 More...
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|
NCBI chrNW_004936581:2,919,793...2,933,743
Ensembl chrNW_004936581:2,920,355...2,933,403
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|
|
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| G
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LOC101960314
|
cytochrome b5
|
|
ISO
|
DNA:missense, nonsense mutations:splice junction,cds:multiple
protein:decreased activity:erythrocyte membrane:
|
RGD |
PMID:7451647 PMID:18343696 |
RGD:11352693 RGD:11352695 |
NCBI chrNW_004936616:4,176,576...4,210,276
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|
| G
|
LOC101962805
|
NADH-cytochrome b5 reductase 3
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary methemoglobinemia
|
ClinVar |
PMID:10807796 PMID:11159544 PMID:11295830 PMID:12756024 PMID:16310381 PMID:18318771 PMID:21349748 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936718:552,369...564,195
Ensembl chrNW_004936718:549,938...564,195
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|
|
|
| G
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Ak1
|
adenylate kinase 1
|
|
ISO
|
DNA:missense, deletion mutations:cds:
|
RGD |
PMID:17662886 |
RGD:11100022 |
NCBI chrNW_004936487:15,507,663...15,517,401
Ensembl chrNW_004936487:15,507,498...15,517,469
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|
| G
|
G6pd
|
glucose-6-phosphate dehydrogenase
|
|
ISO
|
ClinVar Annotator: match by term: Congenital nonspherocytic hemolytic anemia
|
ClinVar |
PMID:1303182 PMID:5673160 PMID:6714978 PMID:15315792 PMID:15996881 PMID:16528451 PMID:18046504 PMID:22293322 PMID:25741868 PMID:27535533 PMID:27880809 PMID:28492532 PMID:28583873 PMID:29300386 PMID:30097005 PMID:31609781 PMID:31833391 PMID:32425388 PMID:33069889 More...
|
|
NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
|
|
| G
|
Gpi
|
glucose-6-phosphate isomerase
|
|
ISO
|
DNA:point_mutation:CDS:1648A>G amino acid K550E
OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470
DNA:mutations:cds:
|
RGD
MouseDO |
PMID:8417789 PMID:9446754 PMID:17041899 |
RGD:11051849 RGD:11051955 RGD:1600633 |
NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788
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| G
|
Hk1
|
hexokinase 1
|
|
ISO
|
DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte
DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human)
|
RGD |
PMID:7655856 PMID:11783948 |
RGD:11353878 RGD:1601519 |
NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
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|
| G
|
Nt5c3a
|
5'-nucleotidase, cytosolic IIIA
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16672222 |
|
NCBI chrNW_004936478:8,785,984...8,834,776
Ensembl chrNW_004936478:8,784,917...8,835,009
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| G
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Pklr
|
pyruvate kinase L/R
|
|
ISO
|
DNA:missense mutations:cds:p.T384M, p.Q421K (human)
DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:missense mutations:cds:p.A468V, p.I314T (human)
|
RGD |
PMID:1536957 PMID:7949104 PMID:8161798 PMID:11054094 |
RGD:11535979 RGD:11535981 RGD:11535983 RGD:11535987 |
NCBI chrNW_004936580:4,770,977...4,799,316
Ensembl chrNW_004936580:4,767,109...4,779,916
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|
| G
|
Tpi1
|
triosephosphate isomerase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:8503454 |
|
NCBI chrNW_004936709:948,151...951,430
Ensembl chrNW_004936709:945,201...951,441
|
|
|
|
| G
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G6pd
|
glucose-6-phosphate dehydrogenase
|
|
ISO
|
ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1 | ClinVar Annotator: match by term: G6PD-related disorder
|
OMIM
ClinVar |
PMID:5448 PMID:16832 PMID:736032 PMID:848857 PMID:853376 PMID:1303173 PMID:1303182 PMID:1459579 PMID:1536798 PMID:1551674 PMID:1562739 PMID:1611091 PMID:1631957 PMID:1805484 PMID:1924316 PMID:1953767 PMID:1972698 PMID:1978554 PMID:1978555 PMID:1999339 PMID:1999409 PMID:2157298 PMID:2190319 PMID:2222408 PMID:2253938 PMID:2255919 PMID:2263506 PMID:2307454 PMID:2321910 PMID:2393028 PMID:2503817 PMID:2572288 PMID:2602358 PMID:2633878 PMID:2836867 PMID:2849540 PMID:2912069 PMID:3198117 PMID:3201886 PMID:3338798 PMID:3393536 PMID:3446582 PMID:3740052 PMID:4154774 PMID:4283789 PMID:4359638 PMID:4379606 PMID:4388132 PMID:4435794 PMID:4721339 PMID:4837298 PMID:4974311 PMID:5081671 PMID:5305539 PMID:5316621 PMID:5369703 PMID:5413384 PMID:5485383 PMID:5641629 PMID:5673160 PMID:5770172 PMID:5844610 PMID:6015571 PMID:6344088 PMID:6698555 PMID:6714978 PMID:6714986 PMID:7055648 PMID:7129446 PMID:7160841 PMID:7203486 PMID:7211845 PMID:7327562 PMID:7390473 PMID:7440223 PMID:7577654 PMID:7590755 PMID:7655862 PMID:7789945 PMID:7803800 PMID:7806085 PMID:7825590 PMID:7858267 PMID:7947239 PMID:7947250 PMID:7949118 PMID:7959686 PMID:8118045 PMID:8193373 PMID:8244337 PMID:8364584 PMID:8370579 PMID:8447319 PMID:8471773 PMID:8490627 PMID:8533762 PMID:8537082 PMID:8611726 PMID:8807321 PMID:8807322 PMID:8956035 PMID:9017974 PMID:9192788 PMID:9233561 PMID:9250351 PMID:9299858 PMID:9342374 PMID:9536098 PMID:9589612 PMID:9674740 PMID:9858856 PMID:10192449 PMID:10221015 PMID:10502785 PMID:10571945 PMID:10643148 PMID:10666231 PMID:10734064 PMID:10782016 PMID:10916676 PMID:11024211 PMID:11042039 PMID:11112389 PMID:11146567 PMID:11243133 PMID:11400791 PMID:11445808 PMID:11499668 PMID:11793482 PMID:11852882 PMID:12028056 PMID:12064920 PMID:12187030 PMID:12367584 PMID:12497642 PMID:12737938 PMID:12768444 PMID:12850494 PMID:14014720 PMID:14278484 PMID:14505231 PMID:15223006 PMID:15315792 PMID:15349799 PMID:15466166 PMID:15502081 PMID:15625830 PMID:15727905 PMID:15766741 PMID:15906717 PMID:15996881 PMID:16088936 PMID:16119988 PMID:16136268 PMID:16143877 PMID:16155737 PMID:16193512 PMID:16329560 PMID:16356170 PMID:16461316 PMID:16513531 PMID:16528451 PMID:16607506 PMID:16777444 PMID:16927025 PMID:16934959 PMID:17018380 PMID:17233850 PMID:17524386 PMID:17576681 PMID:17587269 PMID:17726510 PMID:17959407 PMID:18043863 PMID:18046504 PMID:18177777 PMID:18226470 PMID:18270558 PMID:18329300 PMID:18452027 PMID:18568599 PMID:18677765 PMID:19224086 PMID:19465117 PMID:19589177 PMID:19594365 PMID:20007901 PMID:20200584 PMID:20203002 PMID:20236109 PMID:20582980 PMID:20602793 PMID:20621077 PMID:21153663 PMID:21446359 PMID:21479984 PMID:21507207 PMID:21637675 PMID:21677401 PMID:21874587 PMID:21931771 PMID:21989994 PMID:22018328 PMID:22164279 PMID:22165289 PMID:22171972 PMID:22237549 PMID:22293322 PMID:22307442 PMID:22452742 PMID:22552160 PMID:22770933 PMID:22906047 PMID:22906837 PMID:22963789 PMID:22963798 PMID:23006493 PMID:23057857 PMID:23144702 PMID:23365477 PMID:23479361 PMID:23926329 PMID:23965028 PMID:24033266 PMID:24117340 PMID:24134566 PMID:24460025 PMID:24505519 PMID:24551785 PMID:24586352 PMID:25071003 PMID:25141282 PMID:25201310 PMID:25326637 PMID:25407525 PMID:25440321 PMID:25536053 PMID:25541721 PMID:25548459 PMID:25741868 PMID:25775246 PMID:26060661 PMID:26226515 PMID:26633385 PMID:26823837 PMID:26829728 PMID:26990548 PMID:27040960 PMID:27053284 PMID:27213370 PMID:27287612 PMID:27519946 PMID:27535533 PMID:27853304 PMID:27880809 PMID:27884173 PMID:27980749 PMID:28028996 PMID:28170391 PMID:28195434 PMID:28492532 PMID:28512736 PMID:28583873 PMID:28756180 PMID:28852037 PMID:29072585 PMID:29141760 PMID:29248304 PMID:29300386 PMID:29333274 PMID:29339739 PMID:29396846 PMID:30045279 PMID:30077011 PMID:30096395 PMID:30097005 PMID:30161219 PMID:30314477 PMID:30315739 PMID:30674319 PMID:31294066 PMID:31489982 PMID:31525211 PMID:31602632 PMID:31609781 PMID:31833391 PMID:31862010 PMID:31863082 PMID:32180910 PMID:32387609 PMID:32425388 PMID:32641076 PMID:32680472 PMID:32702756 PMID:32860008 PMID:32987391 PMID:33051526 PMID:33069889 PMID:33072997 PMID:33100726 PMID:33128437 PMID:33413378 PMID:33628497 PMID:33636823 PMID:34532700 PMID:34620237 PMID:34643346 PMID:34659341 PMID:34934109 PMID:34966093 PMID:35247950 PMID:35606495 PMID:35753512 PMID:35840819 PMID:36150187 PMID:36315991 PMID:36681081 PMID:36703223 PMID:36949502 PMID:37415281 PMID:38645242 More...
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|
NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
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|
|
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| G
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Gsr
|
glutathione-disulfide reductase
|
|
ISO
|
ClinVar Annotator: match by term: GSR-related condition | ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency
|
OMIM
ClinVar |
PMID:435643 PMID:947404 PMID:17185460 PMID:25741868 PMID:28492532 PMID:35361806 More...
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|
NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
|
|
|
|
| G
|
Pklr
|
pyruvate kinase L/R
|
|
ISO
|
ClinVar Annotator: match by term: PKLR-related condition | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
|
OMIM
ClinVar |
PMID:1536957 PMID:1670447 PMID:1896471 PMID:1937486 PMID:2018831 PMID:7655861 PMID:7706479 PMID:7919353 PMID:7948315 PMID:8161798 PMID:8180378 PMID:8481523 PMID:8483951 PMID:9057665 PMID:9160692 PMID:9166866 PMID:9389718 PMID:9482576 PMID:9536098 PMID:9657767 PMID:9827908 PMID:9886305 PMID:10354117 PMID:11054094 PMID:11328279 PMID:11698298 PMID:11960989 PMID:12393511 PMID:14014643 PMID:14255553 PMID:15059150 PMID:15491302 PMID:15953013 PMID:15982340 PMID:16199547 PMID:16704447 PMID:17360088 PMID:17382129 PMID:17574881 PMID:17576681 PMID:17977029 PMID:18172691 PMID:18420493 PMID:18683378 PMID:18759866 PMID:19085939 PMID:19758413 PMID:21794208 PMID:21815188 PMID:21833022 PMID:23082140 PMID:25388786 PMID:25741868 PMID:26087744 PMID:26459649 PMID:26658699 PMID:26728349 PMID:26832193 PMID:27181684 PMID:27346685 PMID:27354418 PMID:27432187 PMID:27871768 PMID:28133914 PMID:28492532 PMID:28810336 PMID:29396846 PMID:29519373 PMID:29555771 PMID:30332465 PMID:30609409 PMID:31625567 PMID:31747117 PMID:31974203 PMID:31980526 PMID:32036089 PMID:32043619 PMID:32273473 PMID:32581362 PMID:32974842 PMID:33631127 PMID:34008892 PMID:34093240 PMID:34662886 PMID:36892591 More...
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|
NCBI chrNW_004936580:4,770,977...4,799,316
Ensembl chrNW_004936580:4,767,109...4,779,916
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|
|
|
| G
|
Ak1
|
adenylate kinase 1
|
|
ISO
|
|
OMIM |
|
|
NCBI chrNW_004936487:15,507,663...15,517,401
Ensembl chrNW_004936487:15,507,498...15,517,469
|
|
|
|
| G
|
Gpi
|
glucose-6-phosphate isomerase
|
|
ISO
|
ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 4 | ClinVar Annotator: match by term: GPI-related condition
|
OMIM
ClinVar |
PMID:4076245 PMID:7989588 PMID:8499925 PMID:8822952 PMID:8822954 PMID:9266190 PMID:9616041 PMID:9856489 PMID:10916680 PMID:17041899 PMID:19064002 PMID:24033266 PMID:25741868 PMID:26509025 PMID:27427187 PMID:27519939 PMID:28492532 PMID:30337328 PMID:30585945 PMID:31133865 PMID:32581362 More...
|
|
NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788
|
|
|
|
| G
|
Hk1
|
hexokinase 1
|
|
ISO
|
ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 5
|
OMIM
ClinVar |
PMID:6848140 PMID:7655856 PMID:11783948 PMID:12211198 PMID:12393545 PMID:19536174 PMID:19608687 PMID:22978647 PMID:25741868 PMID:27282571 PMID:28492532 PMID:30778173 PMID:31119733 PMID:31785789 PMID:34448047 PMID:34532855 PMID:38415930 More...
|
|
NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
|
|
|
|
| G
|
Gss
|
glutathione synthetase
|
|
ISO
|
ClinVar Annotator: match by term: Glutathione synthetase deficiency without 5-oxoprolinuria
|
OMIM
ClinVar |
PMID:5476481 PMID:8896573 PMID:9215686 PMID:10369661 PMID:10861239 PMID:11167850 PMID:11445798 PMID:12638941 PMID:15056072 PMID:15717202 PMID:25741868 PMID:25851806 PMID:26669244 PMID:28267090 PMID:28492532 PMID:30581542 PMID:31198081 More...
|
|
NCBI chrNW_004936561:5,765,637...5,793,951
Ensembl chrNW_004936561:5,765,610...5,793,567
|
|
|
|
| G
|
Gclc
|
glutamate-cysteine ligase catalytic subunit
|
|
ISO
|
ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency
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ClinVar
OMIM |
PMID:5901982 PMID:10515893 PMID:10733484 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936476:7,371,270...7,418,756
Ensembl chrNW_004936476:7,371,149...7,418,958
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|
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| G
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Nt5c3a
|
5'-nucleotidase, cytosolic IIIA
|
|
ISO
|
ClinVar Annotator: match by term: UMPH1 DEFICIENCY
|
OMIM
ClinVar |
PMID:6310729 PMID:11369620 PMID:12714505 PMID:12930399 PMID:15238149 PMID:25741868 PMID:28492532 More...
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|
NCBI chrNW_004936478:8,785,984...8,834,776
Ensembl chrNW_004936478:8,784,917...8,835,009
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|
|
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| G
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Gata1
|
GATA binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 9
|
OMIM
ClinVar |
PMID:3164080 PMID:25741868 PMID:28492532 PMID:35030251 |
|
NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768
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|
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| G
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Kcnn4
|
potassium calcium-activated channel subfamily N member 4
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ISO
|
ClinVar Annotator: match by term: DESICCYTOSIS GARDOS
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:34201899 PMID:36003639 PMID:36864026 |
|
NCBI chrNW_004936706:940,585...952,484
Ensembl chrNW_004936706:940,574...952,644
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|
|
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| G
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Kcnn4
|
potassium calcium-activated channel subfamily N member 4
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ISO
|
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936706:940,585...952,484
Ensembl chrNW_004936706:940,574...952,644
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| G
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Piezo1
|
piezo type mechanosensitive ion channel component 1 (Er blood group)
|
|
ISO
|
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH | ClinVar Annotator: match by term: Pseudohyperkalemia, familial, 1, due to red cell leak
|
OMIM
ClinVar |
PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:26333996 PMID:26780541 PMID:28492532 PMID:28518170 PMID:28716860 PMID:28971506 PMID:29449963 PMID:29952828 PMID:30187933 PMID:30655378 PMID:31670187 PMID:33181827 PMID:33686258 PMID:34201899 PMID:34358671 PMID:36122374 PMID:36595486 PMID:36864026 More...
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NCBI chrNW_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233
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|
|
|
| G
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Kcnn4
|
potassium calcium-activated channel subfamily N member 4
|
|
ISO
|
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 | ClinVar Annotator: match by term: KCNN4-related condition
|
OMIM
ClinVar |
PMID:652816 PMID:687829 PMID:4851153 PMID:6473461 PMID:11323678 PMID:23797421 PMID:25741868 PMID:26148990 PMID:26178367 PMID:26198474 PMID:28492532 PMID:28496185 PMID:34201899 PMID:36003639 PMID:36864026 More...
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NCBI chrNW_004936706:940,585...952,484
Ensembl chrNW_004936706:940,574...952,644
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| G
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Dipk1a
|
divergent protein kinase domain 1A
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ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936537:6,234,773...6,341,782
Ensembl chrNW_004936537:6,234,814...6,341,777
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| G
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Dyrk1b
|
dual specificity tyrosine phosphorylation regulated kinase 1B
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,436,702...2,444,758
Ensembl chrNW_004936661:2,433,483...2,444,752
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| G
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Flvcr1
|
FLVCR choline and heme transporter 1
|
|
ISO
|
OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909
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MouseDO |
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|
NCBI chrNW_004936557:693,445...727,166
Ensembl chrNW_004936557:692,489...726,965
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| G
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Gata1
|
GATA binding protein 1
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|
ISO
|
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
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ClinVar |
PMID:871527 PMID:3164080 PMID:8628290 PMID:9536098 PMID:11566888 PMID:12200364 PMID:14691578 PMID:15070711 PMID:15895080 PMID:15920471 PMID:16095949 PMID:16103636 PMID:16199547 PMID:16783379 PMID:16783397 PMID:17148589 PMID:17209061 PMID:17576681 PMID:17713552 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:20922527 PMID:22706301 PMID:23704091 PMID:24056718 PMID:24196768 PMID:24255919 PMID:24453067 PMID:24728327 PMID:24766296 PMID:24952648 PMID:25232504 PMID:25251786 PMID:25615715 PMID:25741868 PMID:27353457 PMID:27993330 PMID:28492532 PMID:29146883 PMID:29316426 PMID:30503522 PMID:31064749 PMID:31606922 PMID:32681702 PMID:33611093 PMID:33997957 PMID:35030251 PMID:35328001 PMID:36845397 PMID:37858167 PMID:38103590 More...
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NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768
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| G
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Heatr3
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HEAT repeat containing 3
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia
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ClinVar |
PMID:35213692 |
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NCBI chrNW_004936475:3,189,008...3,222,242
Ensembl chrNW_004936475:3,188,820...3,222,354
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| G
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Klf1
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KLF transcription factor 1
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ISO
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mRNA:decreased expression:bone marrow, blood
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RGD |
PMID:22965552 |
RGD:10769343 |
NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
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| G
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LOC101969021
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somatotropin
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treatment
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ISO
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RGD |
PMID:25492299 |
RGD:11352737 |
NCBI chrNW_004936541:4,524,397...4,528,234
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| G
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Mia
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MIA SH3 domain containing
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ISO
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ClinVar Annotator: match by term: Aase syndrome
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:3,047,735...3,049,050
Ensembl chrNW_004936661:3,047,747...3,049,064
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| G
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Plekhg2
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pleckstrin homology and RhoGEF domain containing G2
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ISO
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ClinVar Annotator: match by term: Aase syndrome
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,257,097...2,268,301
Ensembl chrNW_004936661:2,257,068...2,268,716
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| G
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Rabac1
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Rab acceptor 1
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:498,271...500,847
Ensembl chrNW_004936706:497,963...500,842
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| G
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Rpl11
|
ribosomal protein L11
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|
ISO
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ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
|
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 PMID:20960466 PMID:22689679 PMID:23718193 PMID:25741868 PMID:26136524 PMID:26185635 PMID:28492532 PMID:30503522 More...
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NCBI chrNW_004936474:8,855,782...8,858,287
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| G
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Rpl19
|
ribosomal protein L19
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|
ISO
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ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
|
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936490:14,471,200...14,476,206
Ensembl chrNW_004936490:14,471,025...14,476,541
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| G
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Rpl26
|
ribosomal protein L26
|
|
ISO
|
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
|
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936595:1,603,913...1,609,125
Ensembl chrNW_004936595:1,603,413...1,609,132
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| G
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Rpl5
|
ribosomal protein L5
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|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: ERYTHROGENESIS IMPERFECTA
|
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 PMID:20378560 PMID:20960466 PMID:25741868 PMID:28102861 PMID:28492532 PMID:30503522 PMID:33718801 More...
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NCBI chrNW_004936537:6,341,961...6,344,831
Ensembl chrNW_004936537:6,342,028...6,347,977
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| G
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Rpl9
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ribosomal protein L9
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|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia
|
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936482:7,063,294...7,068,235
Ensembl chrNW_004936482:7,060,860...7,068,280
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| G
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Rps10
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ribosomal protein S10
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|
ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia
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ClinVar |
PMID:20159986 PMID:28065601 PMID:28132843 PMID:28492532 |
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NCBI chrNW_004936476:24,645,235...24,650,940
Ensembl chrNW_004936476:24,646,153...24,651,211
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| G
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Rps17
|
ribosomal protein S17
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|
ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia
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ClinVar |
PMID:17647292 PMID:19953637 PMID:25741868 |
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NCBI chrNW_004936483:17,211,129...17,214,509
Ensembl chrNW_004936483:17,210,952...17,214,735
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| G
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Rps19
|
ribosomal protein S19
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|
ISO
|
ClinVar Annotator: match by term: AREGENERATIVE ANEMIA, CHRONIC CONGENITAL | ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: ERYTHROGENESIS IMPERFECTA | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
|
ClinVar |
PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 PMID:12586610 PMID:12750732 PMID:15059149 PMID:15075082 PMID:15384984 PMID:15523650 PMID:16159874 PMID:16199547 PMID:17053056 PMID:17082006 PMID:17376718 PMID:17517689 PMID:17576681 PMID:17726054 PMID:18217898 PMID:18412286 PMID:18768533 PMID:19454283 PMID:20378560 PMID:20395159 PMID:20603584 PMID:20606162 PMID:20960466 PMID:22045982 PMID:22262766 PMID:22381658 PMID:22783360 PMID:23349008 PMID:24033266 PMID:24675553 PMID:24952648 PMID:25042156 PMID:25132370 PMID:25381059 PMID:25703294 PMID:25741868 PMID:25946618 PMID:26136524 PMID:26604301 PMID:27329125 PMID:27882484 PMID:28102861 PMID:28376382 PMID:28492532 PMID:29114930 PMID:29766597 PMID:30503522 PMID:31574871 PMID:33718801 PMID:34110484 PMID:35923690 PMID:36321656 PMID:37897121 More...
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NCBI chrNW_004936706:568,443...575,973
Ensembl chrNW_004936706:568,364...575,126
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| G
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Rps24
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ribosomal protein S24
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|
ISO
|
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
|
ClinVar |
PMID:9536098 PMID:17186470 PMID:17576681 PMID:19689926 PMID:20960466 PMID:25741868 PMID:26136524 PMID:28492532 PMID:29748317 More...
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NCBI chrNW_004936521:1,562,013...1,568,280
Ensembl chrNW_004936521:1,561,992...1,568,280
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| G
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Rps26
|
ribosomal protein S26
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia
|
ClinVar |
PMID:16199547 PMID:19816270 PMID:20116044 PMID:21414820 PMID:22381658 PMID:23718193 PMID:24675553 PMID:24942156 PMID:25741868 PMID:26136524 PMID:26604301 PMID:27329125 PMID:28102861 PMID:28492532 PMID:29114930 More...
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|
NCBI chrNW_004936646:452,371...454,787
Ensembl chrNW_004936646:452,128...457,428
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| G
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Rps7
|
ribosomal protein S7
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|
ISO
|
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
|
ClinVar |
PMID:25741868 PMID:26136524 PMID:28492532 |
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NCBI chrNW_004936532:1,734,993...1,740,202
Ensembl chrNW_004936532:1,734,983...1,742,151
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| G
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Rpsa
|
ribosomal protein SA
|
|
ISO
|
OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909
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MouseDO |
|
|
NCBI chrNW_004936473:28,624,110...28,628,488
Ensembl chrNW_004936473:28,624,121...28,628,497
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| G
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Tp53
|
tumor protein p53
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|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia
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ClinVar |
PMID:25741868 PMID:30146126 PMID:35084091 |
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NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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|
|
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| G
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Heatr3
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HEAT repeat containing 3
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|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1
|
ClinVar |
PMID:25741868 PMID:35213692 |
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NCBI chrNW_004936475:3,189,008...3,222,242
Ensembl chrNW_004936475:3,188,820...3,222,354
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| G
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Rpl5
|
ribosomal protein L5
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936537:6,341,961...6,344,831
Ensembl chrNW_004936537:6,342,028...6,347,977
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|
| G
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Rps19
|
ribosomal protein S19
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1
|
OMIM
ClinVar |
PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 PMID:12586610 PMID:12750732 PMID:15384984 PMID:16159874 PMID:17053056 PMID:17082006 PMID:17517689 PMID:17576681 PMID:17726054 PMID:18412286 PMID:18768533 PMID:19765279 PMID:20378560 PMID:20395159 PMID:20606162 PMID:20960466 PMID:23812780 PMID:24033266 PMID:24675553 PMID:24952648 PMID:25069755 PMID:25381059 PMID:25741868 PMID:25946618 PMID:27329125 PMID:28102861 PMID:28376382 PMID:28492532 PMID:30503522 PMID:31574871 PMID:33718801 PMID:35923690 PMID:37897121 More...
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|
NCBI chrNW_004936706:568,443...575,973
Ensembl chrNW_004936706:568,364...575,126
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|
|
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| G
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Rps26
|
ribosomal protein S26
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 | ClinVar Annotator: match by term: RPS26-related condition
|
OMIM
ClinVar |
PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 PMID:20116044 PMID:21414820 PMID:22381658 PMID:23718193 PMID:24675553 PMID:24942156 PMID:25741868 PMID:25946618 PMID:26136524 PMID:28102861 PMID:28492532 PMID:29114930 PMID:30376034 PMID:37376976 More...
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|
NCBI chrNW_004936646:452,371...454,787
Ensembl chrNW_004936646:452,128...457,428
|
|
|
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| G
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Rpl26
|
ribosomal protein L26
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 11
|
OMIM
ClinVar |
PMID:22431104 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936595:1,603,913...1,609,125
Ensembl chrNW_004936595:1,603,413...1,609,132
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|
|
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| G
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Rpl15
|
ribosomal protein L15
|
|
ISO
|
|
OMIM |
|
|
NCBI chrNW_004936473:15,571,897...15,575,812
Ensembl chrNW_004936473:15,571,912...15,576,462
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|
|
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| G
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Rps29
|
ribosomal protein S29
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 | ClinVar Annotator: match by term: RPS29-related condition
|
OMIM
ClinVar |
PMID:24829207 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936583:426,476...428,008
Ensembl chrNW_004936583:426,478...426,923
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|
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| G
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Tsr2
|
TSR2 ribosome maturation factor
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | ClinVar Annotator: match by term: TSR2-related condition
|
OMIM
ClinVar |
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936751:1,350,542...1,355,449
Ensembl chrNW_004936751:1,350,481...1,358,110
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|
|
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| G
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Rps26
|
ribosomal protein S26
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
|
ClinVar |
PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 PMID:24942156 PMID:28492532 More...
|
|
NCBI chrNW_004936646:452,371...454,787
Ensembl chrNW_004936646:452,128...457,428
|
|
| G
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Rps28
|
ribosomal protein S28
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | ClinVar Annotator: match by term: RPS28-related condition
|
OMIM
ClinVar |
PMID:24942156 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936588:5,154,614...5,155,522
Ensembl chrNW_004936588:5,154,615...5,155,522
|
|
| G
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Tsr2
|
TSR2 ribosome maturation factor
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
|
ClinVar |
PMID:11424144 PMID:24942156 |
|
NCBI chrNW_004936751:1,350,542...1,355,449
Ensembl chrNW_004936751:1,350,481...1,358,110
|
|
|
|
| G
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Rpl27
|
ribosomal protein L27
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 | ClinVar Annotator: match by term: RPL27-related condition
|
OMIM
ClinVar |
PMID:25424902 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936490:17,696,911...17,699,844
Ensembl chrNW_004936490:17,696,886...17,700,241
|
|
|
|
| G
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Rps27
|
ribosomal protein S27
|
|
ISO
|
ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 | ClinVar Annotator: match by term: RPS27-related condition
|
OMIM
ClinVar |
PMID:25424902 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936580:3,740,088...3,741,343
Ensembl chrNW_004936580:3,740,134...3,741,345
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|
|
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| G
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Rpl18
|
ribosomal protein L18
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 | ClinVar Annotator: match by term: RPL18-related condition
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OMIM
ClinVar |
PMID:25741868 PMID:28280134 PMID:28492532 |
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NCBI chrNW_004936664:2,665,084...2,668,706
Ensembl chrNW_004936664:2,665,122...2,667,398
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| G
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Rpl35
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ribosomal protein L35
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 | ClinVar Annotator: match by term: RPL35-related condition
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OMIM
ClinVar |
PMID:28280134 PMID:28492532 |
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NCBI chrNW_004936487:13,056,243...13,060,900
Ensembl chrNW_004936487:13,053,507...13,061,147
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| G
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Rps15a
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ribosomal protein S15a
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 20
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OMIM
ClinVar |
PMID:27909223 |
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NCBI chrNW_004936501:4,650,832...4,656,223
Ensembl chrNW_004936501:4,650,062...4,656,236
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| G
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Heatr3
|
HEAT repeat containing 3
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 21
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OMIM
ClinVar |
PMID:25741868 PMID:35213692 |
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NCBI chrNW_004936475:3,189,008...3,222,242
Ensembl chrNW_004936475:3,188,820...3,222,354
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| G
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Rps24
|
ribosomal protein S24
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 | ClinVar Annotator: match by term: RPS24-related condition
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OMIM
ClinVar |
PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 PMID:25741868 PMID:26845104 PMID:27329125 PMID:28492532 PMID:29748317 PMID:30228860 More...
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NCBI chrNW_004936521:1,562,013...1,568,280
Ensembl chrNW_004936521:1,561,992...1,568,280
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| G
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Rps17
|
ribosomal protein S17
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 4
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OMIM
ClinVar |
PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 |
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NCBI chrNW_004936483:17,211,129...17,214,509
Ensembl chrNW_004936483:17,210,952...17,214,735
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| G
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Rpl35a
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ribosomal protein L35a
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ISO
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OMIM |
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NCBI chrNW_004936784:167,623...171,962
Ensembl chrNW_004936784:167,775...171,854
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| G
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Rpl5
|
ribosomal protein L5
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
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OMIM
ClinVar |
PMID:16199547 PMID:19061985 PMID:19773262 PMID:25741868 PMID:28102861 PMID:28492532 PMID:30503522 More...
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NCBI chrNW_004936537:6,341,961...6,344,831
Ensembl chrNW_004936537:6,342,028...6,347,977
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| G
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Rpl11
|
ribosomal protein L11
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
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OMIM
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28492532 PMID:30503522 More...
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NCBI chrNW_004936474:8,855,782...8,858,287
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| G
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Rps7
|
ribosomal protein S7
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition
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OMIM
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 PMID:25424902 PMID:25741868 PMID:25946618 PMID:26136524 PMID:27882484 PMID:28102861 PMID:28492532 PMID:29114930 PMID:32054657 PMID:36057918 More...
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NCBI chrNW_004936532:1,734,993...1,740,202
Ensembl chrNW_004936532:1,734,983...1,742,151
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| G
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Rps10
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ribosomal protein S10
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ISO
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OMIM |
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NCBI chrNW_004936476:24,645,235...24,650,940
Ensembl chrNW_004936476:24,646,153...24,651,211
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| G
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Epo
|
erythropoietin
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia-like
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OMIM
ClinVar |
PMID:28283061 |
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NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
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| G
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Ikzf1
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IKAROS family zinc finger 1
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ISO
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ClinVar Annotator: match by term: Diamond-Blackfan anemia-like
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ClinVar |
PMID:28492532 PMID:29681510 PMID:34162668 |
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NCBI chrNW_004936686:1,459,582...1,556,478
Ensembl chrNW_004936686:1,462,145...1,556,451
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| G
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Gp1ba
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glycoprotein Ib platelet subunit alpha
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ISO
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associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human)
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RGD |
PMID:29216383 |
RGD:42722620 |
NCBI chrNW_004936677:2,774,076...2,779,660
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| G
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Ccbe1
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collagen and calcium binding EGF domains 1
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ISO
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ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936497:5,290,068...5,321,656
Ensembl chrNW_004936497:5,290,077...5,321,876
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| G
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Slc4a1
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solute carrier family 4 member 1 (Diego blood group)
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ISO
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ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia
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ClinVar |
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 PMID:6338046 PMID:7530501 PMID:7689982 PMID:7812009 PMID:7919393 PMID:7949112 PMID:8210309 PMID:8434259 PMID:8640229 PMID:8704215 PMID:8873423 PMID:8943874 PMID:9012689 PMID:9207478 PMID:9312167 PMID:9600966 PMID:9734643 PMID:9854053 PMID:10403343 PMID:10926824 PMID:10942416 PMID:11208088 PMID:11380459 PMID:11934690 PMID:12081559 PMID:12087557 PMID:12750988 PMID:12938018 PMID:14618420 PMID:14734552 PMID:15211439 PMID:16107207 PMID:16199547 PMID:16227998 PMID:16420521 PMID:17215882 PMID:17557941 PMID:17690931 PMID:18266205 PMID:18524859 PMID:19229254 PMID:19289107 PMID:19625994 PMID:20068363 PMID:20151848 PMID:20421175 PMID:20799361 PMID:22126643 PMID:22518001 PMID:22609520 PMID:23255290 PMID:23842529 PMID:24652967 PMID:25111073 PMID:25741868 PMID:26571219 PMID:27058983 PMID:27718309 PMID:28045035 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:28638614 PMID:29627839 PMID:29725771 PMID:29790872 PMID:30124986 PMID:30230413 PMID:31147440 PMID:31364155 PMID:31672324 PMID:31959358 PMID:32071839 PMID:32154456 PMID:32436265 PMID:32632909 PMID:32641076 PMID:32926342 PMID:33074480 PMID:33532864 PMID:34159584 PMID:34201899 PMID:34746046 PMID:35099593 PMID:35738466 PMID:35845192 PMID:37353797 PMID:38319988 PMID:357386466 More...
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NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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| G
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Wdr72
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WD repeat domain 72
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ISO
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ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia
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ClinVar |
PMID:25741868 PMID:30028003 |
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NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415
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| G
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Epb41
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erythrocyte membrane protein band 4.1
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ISO
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ClinVar Annotator: match by term: EPB41-related disorder | ClinVar Annotator: match by term: Elliptocytosis 1
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OMIM
ClinVar |
PMID:1430200 PMID:2384597 PMID:2384598 PMID:3134067 PMID:3194408 PMID:3722387 PMID:3965051 PMID:6894932 PMID:7255153 PMID:7627190 PMID:8423235 PMID:9536098 PMID:17576681 PMID:21839655 PMID:25741868 PMID:27551681 PMID:27667160 PMID:28492532 PMID:33942936 PMID:38592584 More...
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NCBI chrNW_004936474:12,917,009...13,090,640
Ensembl chrNW_004936474:12,991,737...13,090,615
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| G
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Spta1
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spectrin alpha, erythrocytic 1
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ISO
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ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2
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OMIM
ClinVar |
PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 PMID:1679439 PMID:1845156 PMID:1878597 PMID:2043465 PMID:2328319 PMID:2346729 PMID:2384601 PMID:2567189 PMID:2568861 PMID:2794061 PMID:2895677 PMID:3597773 PMID:3708157 PMID:3785322 PMID:3922449 PMID:3940543 PMID:4027386 PMID:4077050 PMID:7074218 PMID:8040317 PMID:8068958 PMID:8081008 PMID:8132574 PMID:8370581 PMID:8435324 PMID:8444470 PMID:8490186 PMID:8790144 PMID:8844207 PMID:8857939 PMID:8941647 PMID:9192783 PMID:10192450 PMID:14628287 PMID:15071791 PMID:15384986 PMID:16150946 PMID:16199547 PMID:18218854 PMID:18783249 PMID:18815189 PMID:19593814 PMID:20197550 PMID:21212007 PMID:23241237 PMID:23974198 PMID:24033266 PMID:25741868 PMID:26002053 PMID:26467025 PMID:27292444 PMID:27667160 PMID:27863252 PMID:28090778 PMID:28492532 PMID:29105823 PMID:29396846 PMID:29729090 PMID:30267408 PMID:30317022 PMID:30393954 PMID:31038472 PMID:31130284 PMID:31147440 PMID:31286676 PMID:31333484 PMID:31539204 PMID:31723846 PMID:32266426 PMID:32436265 PMID:32581362 PMID:32641076 PMID:32751168 PMID:32888494 PMID:33074880 PMID:35845192 PMID:37400730 PMID:38054408 PMID:38592584 More...
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NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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| G
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Sptb
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spectrin beta, erythrocytic
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ISO
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ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | ClinVar Annotator: match by term: Elliptocytosis 3
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OMIM
ClinVar |
PMID:1391962 PMID:1498324 PMID:7883966 PMID:8667615 PMID:8844207 PMID:9536098 PMID:17576681 PMID:19538529 PMID:25741868 PMID:26830532 PMID:27292444 PMID:28492532 PMID:29396846 PMID:29572776 PMID:30198572 PMID:31602632 PMID:31980736 PMID:32436265 PMID:32596782 PMID:33074480 PMID:34201899 PMID:35406697 PMID:38556258 PMID:38592584 More...
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NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
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| G
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Tpp2
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tripeptidyl peptidase 2
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ISO
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ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
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ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25414442 PMID:25640679 PMID:25741868 PMID:28492532 PMID:30533531 PMID:33583942 PMID:33586135 PMID:36790564 More...
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NCBI chrNW_004936472:8,370,607...8,438,376
Ensembl chrNW_004936472:8,369,736...8,438,412
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| G
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LOC101956526
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cytochrome c oxidase subunit 4 isoform 2, mitochondrial
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ISO
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ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome
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OMIM
ClinVar |
PMID:19268275 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936485:18,631,826...18,637,675
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| G
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Ankrd11
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ankyrin repeat domain containing 11
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ISO
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ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936641:569,002...661,935
Ensembl chrNW_004936641:627,398...661,137
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| G
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Aopep
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aminopeptidase O (putative)
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|
ISO
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ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
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ClinVar |
PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8703809 PMID:8829660 PMID:08844212 PMID:08882868 PMID:9207444 PMID:9242535 PMID:9272737 PMID:9398857 PMID:9521584 PMID:9536098 PMID:09616183 PMID:10383195 PMID:11050007 PMID:12093742 PMID:12649160 PMID:12670332 PMID:12750283 PMID:14695169 PMID:15277238 PMID:15364573 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17703323 PMID:17924555 PMID:19557015 PMID:19714462 PMID:20301575 PMID:20509860 PMID:20869034 PMID:21279724 PMID:21520333 PMID:21659346 PMID:22382802 PMID:22720145 PMID:22778927 PMID:22995991 PMID:23028338 PMID:23613520 PMID:23634996 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25741868 PMID:26466335 PMID:26467025 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26822237 PMID:26990548 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28775315 PMID:28878254 PMID:29641532 PMID:29654263 PMID:29753700 PMID:29905759 PMID:29922827 PMID:30031030 PMID:30322717 PMID:30541756 PMID:30613976 PMID:30630526 PMID:30967997 PMID:31102422 PMID:31133068 PMID:31589614 PMID:31721781 PMID:31784482 PMID:31874108 PMID:32427313 PMID:32496904 PMID:32546565 PMID:32566746 PMID:32659497 PMID:32885271 PMID:32923857 PMID:33050356 PMID:33084842 PMID:33471991 PMID:33780288 PMID:34106356 PMID:34117267 PMID:34308104 PMID:34326862 PMID:34426522 PMID:34445631 PMID:34654685 PMID:35264596 PMID:35739269 PMID:36315513 PMID:36474027 PMID:37349538 More...
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NCBI chrNW_004936626:3,704,474...3,973,913
Ensembl chrNW_004936626:3,667,123...3,970,433
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| G
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Brca2
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BRCA2 DNA repair associated
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susceptibility
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ISO
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DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia
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RGD
ClinVar |
PMID:9536098 PMID:11030417 PMID:11185744 PMID:11430722 PMID:12065746 PMID:12228710 PMID:12491487 PMID:12955716 PMID:12960223 PMID:14670928 PMID:15026808 PMID:15070707 PMID:15635067 PMID:15645491 PMID:15876480 PMID:16825431 PMID:17576681 PMID:17924331 PMID:17972177 PMID:18284688 PMID:18431501 PMID:18627636 PMID:18779604 PMID:19043619 PMID:19620486 PMID:20104584 PMID:20127978 PMID:20608899 PMID:20927582 PMID:21120943 PMID:21218378 PMID:21523855 PMID:21548014 PMID:21702907 PMID:21719596 PMID:21990134 PMID:22009639 PMID:22034289 PMID:22126563 PMID:22228431 PMID:22293751 PMID:22486713 PMID:22874498 PMID:23555315 PMID:23704879 PMID:23893897 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24728327 PMID:24817641 PMID:25085752 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25741868 PMID:26064523 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26689913 PMID:26834852 PMID:26920070 PMID:27376475 PMID:27878467 PMID:28222693 PMID:28492532 PMID:28831036 PMID:29310832 PMID:29394989 PMID:29446198 PMID:29470806 PMID:29625052 PMID:29753700 PMID:29884841 PMID:30254663 PMID:30702160 PMID:31090900 PMID:31131967 PMID:31853058 PMID:31911673 PMID:32398771 PMID:32467295 PMID:32641407 PMID:32719484 PMID:33087929 PMID:33273034 PMID:33471991 PMID:34326862 PMID:34687993 PMID:35464868 PMID:35736817 PMID:36329109 PMID:36451132 PMID:36721989 More...
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RGD:734658 |
NCBI chrNW_004936472:26,945,659...27,017,693
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| G
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Brip1
|
BRCA1 interacting DNA helicase 1
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ISO
|
ClinVar Annotator: match by term: Fanconi anemia
|
ClinVar |
PMID:2455662 PMID:3375802 PMID:11301010 PMID:14983014 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:18628483 PMID:18978354 PMID:19127258 PMID:19763819 PMID:20159562 PMID:20173781 PMID:20639400 PMID:21345144 PMID:21964575 PMID:22006311 PMID:22792074 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 PMID:31300551 PMID:32068069 PMID:32359370 PMID:32658311 PMID:32885271 PMID:33471991 PMID:34026625 PMID:34585738 PMID:36988593 More...
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NCBI chrNW_004936490:3,001,445...3,139,538
Ensembl chrNW_004936490:3,003,484...3,137,479
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| G
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Fanca
|
FA complementation group A
|
disease_progression
|
ISO
|
DNA:deletion
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
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RGD
ClinVar |
PMID:1273304 PMID:1792455 PMID:1927896 PMID:2472832 PMID:6720839 PMID:08896563 PMID:9371789 PMID:09371798 PMID:09399890 PMID:9536098 PMID:9711872 PMID:9721219 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10373536 PMID:10521298 PMID:10807541 PMID:10862090 PMID:11050007 PMID:11063725 PMID:11091222 PMID:11110674 PMID:11344308 PMID:11739169 PMID:12031647 PMID:12444097 PMID:12697994 PMID:12827451 PMID:12955722 PMID:14695169 PMID:15059067 PMID:15516848 PMID:15522956 PMID:15523645 PMID:15591268 PMID:15609317 PMID:15643609 PMID:16015582 PMID:16084127 PMID:16116422 PMID:16199547 PMID:16397136 PMID:16445838 PMID:16611311 PMID:16720839 PMID:16774934 PMID:16946016 PMID:17327415 PMID:17576681 PMID:17726045 PMID:17924555 PMID:18414213 PMID:19278965 PMID:19367192 PMID:19423727 PMID:19763152 PMID:20301575 PMID:20307669 PMID:21236561 PMID:21273304 PMID:21279724 PMID:21519011 PMID:21520333 PMID:21659346 PMID:22178060 PMID:22406018 PMID:22720145 PMID:22778927 PMID:22950077 PMID:23021409 PMID:23067021 PMID:23613520 PMID:23806870 PMID:23898106 PMID:23934222 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24082139 PMID:24121791 PMID:24123366 PMID:24343878 PMID:24349332 PMID:24584348 PMID:24689079 PMID:24704046 PMID:24728327 PMID:24793135 PMID:24824029 PMID:24989076 PMID:25168418 PMID:25239263 PMID:25288723 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25640679 PMID:25703136 PMID:25741868 PMID:25741905 PMID:25741916 PMID:25751062 PMID:25953249 PMID:26110843 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26201965 PMID:26296701 PMID:26336887 PMID:26467025 PMID:26492932 PMID:26556299 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26841305 PMID:27041517 PMID:27148581 PMID:27153395 PMID:27224906 PMID:27577878 PMID:27701467 PMID:27733357 PMID:27997549 PMID:28060124 PMID:28102861 PMID:28104920 PMID:28202063 PMID:28215707 PMID:28239445 PMID:28259476 PMID:28492532 PMID:28600779 PMID:28623394 PMID:28678401 PMID:28687356 PMID:28690869 PMID:28717660 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28870985 PMID:28873162 PMID:28973083 PMID:28975465 PMID:29093742 PMID:29098741 PMID:29098742 PMID:29247345 PMID:29269525 PMID:29338072 PMID:29621589 PMID:29625052 PMID:29641532 PMID:29702541 PMID:29753700 PMID:29779353 PMID:29797310 PMID:29904161 PMID:29976742 PMID:30031030 PMID:30032139 PMID:30050716 PMID:30057198 PMID:30086788 PMID:30134342 PMID:30192042 PMID:30268473 PMID:30306255 PMID:30541756 PMID:30709382 PMID:30792206 PMID:30809872 PMID:30836094 PMID:30919572 PMID:31030435 PMID:31102422 PMID:31130284 PMID:31192125 PMID:31203817 PMID:31248416 PMID:31259830 PMID:31263571 PMID:31395037 PMID:31432501 PMID:31543367 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31613886 PMID:31655866 PMID:31698007 PMID:31721781 PMID:31874108 PMID:31911633 PMID:32002546 PMID:32098966 PMID:32107087 PMID:32235514 PMID:32268276 PMID:32487094 PMID:32546565 PMID:32659497 PMID:32659967 PMID:32793304 PMID:32799124 PMID:32850347 PMID:32903519 PMID:32947577 PMID:33020649 PMID:33088445 PMID:33172906 PMID:33224011 PMID:33224012 PMID:33314633 PMID:33332384 PMID:33482836 PMID:33556149 PMID:33558524 PMID:33679882 PMID:33686268 PMID:33718801 PMID:33762291 PMID:33850299 PMID:33883933 PMID:33960719 PMID:34008892 PMID:34130653 PMID:34173971 PMID:34250406 PMID:34308366 PMID:34422195 PMID:34426522 PMID:34480478 PMID:34512202 PMID:34573280 PMID:34585473 PMID:34598035 PMID:34741701 PMID:34754157 PMID:34864095 PMID:34902740 PMID:34906502 PMID:35171259 PMID:35273153 PMID:35314707 PMID:35348533 PMID:35417938 PMID:35655404 PMID:35739269 PMID:35854323 PMID:35884425 PMID:36385762 PMID:36451132 PMID:36463940 PMID:36513378 PMID:36863698 PMID:36894310 PMID:36898365 PMID:37349538 PMID:38779778 PMID:39256447 More...
|
RGD:11344914 |
NCBI chrNW_004936641:281,119...319,796
Ensembl chrNW_004936641:281,073...324,053
|
|
| G
|
Fancb
|
FA complementation group B
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
|
ClinVar |
PMID:9536098 PMID:15502827 PMID:16199547 PMID:17576681 PMID:23613520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32106311 PMID:32410215 PMID:32546565 PMID:33558524 PMID:36622392 More...
|
|
NCBI chrNW_004936470:4,305,220...4,323,456
Ensembl chrNW_004936470:4,305,740...4,323,374
|
|
| G
|
Fancc
|
FA complementation group C
|
onset
|
ISO
|
DNA:deletion: :322delG (human)
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
|
RGD
ClinVar |
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 PMID:08103176 PMID:08128956 PMID:08348157 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8639804 PMID:8703809 PMID:8734810 PMID:8799375 PMID:8829660 PMID:08844212 PMID:8882868 PMID:9207444 PMID:9242535 PMID:9272737 PMID:9398857 PMID:09452030 PMID:9521584 PMID:9536098 PMID:09616183 PMID:10383195 PMID:10666230 PMID:10994546 PMID:11050007 PMID:11110674 PMID:11427142 PMID:11520787 PMID:12093742 PMID:12649160 PMID:12670332 PMID:12750283 PMID:14695169 PMID:14726700 PMID:15277238 PMID:15364573 PMID:15516848 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17909071 PMID:17924555 PMID:19622403 PMID:19714462 PMID:20301575 PMID:20507306 PMID:20509860 PMID:20869034 PMID:21279724 PMID:21520333 PMID:21659346 PMID:22701786 PMID:22720145 PMID:22778927 PMID:22995991 PMID:23028338 PMID:23613520 PMID:23634996 PMID:23934222 PMID:24033266 PMID:24390348 PMID:24469828 PMID:24584348 PMID:24728327 PMID:24773018 PMID:25168418 PMID:25640679 PMID:25741868 PMID:25801821 PMID:26466335 PMID:26467025 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26778106 PMID:26822237 PMID:26990548 PMID:27133164 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28762789 PMID:28767289 PMID:28775315 PMID:28873162 PMID:28878254 PMID:29038235 PMID:29360161 PMID:29439820 PMID:29625052 PMID:29641532 PMID:29643063 PMID:29654263 PMID:29719599 PMID:29753700 PMID:29767408 PMID:29905759 PMID:29922827 PMID:30031030 PMID:30093976 PMID:30256826 PMID:30306255 PMID:30322717 PMID:30541756 PMID:30613976 PMID:30630526 PMID:30676620 PMID:30967997 PMID:31044565 PMID:31102422 PMID:31133068 PMID:31300551 PMID:31558676 PMID:31589614 PMID:31721781 PMID:31722815 PMID:31784482 PMID:31867841 PMID:31874108 PMID:32235514 PMID:32427313 PMID:32496904 PMID:32546565 PMID:32566746 PMID:32570879 PMID:32620917 PMID:32659497 PMID:32885271 PMID:32923857 PMID:33050356 PMID:33083949 PMID:33084842 PMID:33314633 PMID:33471991 PMID:33563768 PMID:33780288 PMID:34008892 PMID:34106356 PMID:34117267 PMID:34308104 PMID:34308366 PMID:34326862 PMID:34426522 PMID:34445631 PMID:34654685 PMID:34761457 PMID:35171259 PMID:35264596 PMID:35626031 PMID:35739269 PMID:35884425 PMID:36315513 PMID:36474027 PMID:36744932 PMID:36969007 PMID:37216690 PMID:37349538 PMID:37865086 More...
|
RGD:11344914 |
NCBI chrNW_004936626:3,980,311...4,147,042
Ensembl chrNW_004936626:3,982,647...4,159,976
|
|
| G
|
Fancd2
|
FA complementation group D2
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
|
ClinVar |
PMID:9536098 PMID:11239453 PMID:14695169 PMID:16199547 PMID:16280053 PMID:17096012 PMID:17308347 PMID:17436244 PMID:17576681 PMID:21356188 PMID:22720145 PMID:22828868 PMID:22829014 PMID:23285130 PMID:23613520 PMID:24033266 PMID:24584348 PMID:24728327 PMID:25640679 PMID:25703294 PMID:25741868 PMID:25927356 PMID:26580448 PMID:26633542 PMID:26740942 PMID:27041517 PMID:27153395 PMID:27931139 PMID:28202063 PMID:28386063 PMID:28492532 PMID:28678401 PMID:29625052 PMID:29659569 PMID:30250602 PMID:30256826 PMID:30306255 PMID:30633423 PMID:30713837 PMID:30716324 PMID:31586946 PMID:32546565 PMID:32659967 PMID:33270637 PMID:33558524 PMID:34308104 PMID:34327028 PMID:34585473 PMID:36463940 PMID:37216690 PMID:38502138 More...
|
|
NCBI chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868
|
|
| G
|
Fancd2os
|
FANCD2 opposite strand
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
|
ClinVar |
PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 PMID:23285130 PMID:24728327 PMID:25741868 PMID:25927356 PMID:27041517 PMID:28492532 PMID:29625052 PMID:30250602 PMID:30256826 PMID:31586946 PMID:32546565 PMID:33270637 PMID:34308104 PMID:34585473 PMID:36463940 PMID:36622392 More...
|
|
NCBI chrNW_004936602:3,160,505...3,161,374
Ensembl chrNW_004936602:3,160,508...3,161,044
|
|
| G
|
Fance
|
FA complementation group E
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia
|
ClinVar |
PMID:11001585 PMID:17308347 PMID:17924555 PMID:22778927 PMID:24728327 PMID:25741868 PMID:28492532 PMID:32546565 PMID:33084842 PMID:33326660 PMID:36463940 More...
|
|
NCBI chrNW_004936476:23,783,161...23,794,646
Ensembl chrNW_004936476:23,782,977...23,794,708
|
|
| G
|
Fancf
|
FA complementation group F
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
|
ClinVar |
PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 PMID:16084127 PMID:16774934 PMID:17082180 PMID:17924555 PMID:18271933 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26033879 PMID:27714961 PMID:28102861 PMID:28259476 PMID:28492532 PMID:28678401 PMID:28687356 PMID:29368431 PMID:29625052 PMID:30256826 PMID:30262796 PMID:30680046 PMID:30995915 PMID:31721781 PMID:31882575 PMID:33850299 PMID:34117267 More...
|
|
NCBI chrNW_004936654:3,298,193...3,301,251
|
|
| G
|
Fancg
|
FA complementation group G
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
|
ClinVar |
PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 PMID:11093276 PMID:11126723 PMID:11438206 PMID:12552564 PMID:12673805 PMID:15657175 PMID:16084127 PMID:16199547 PMID:16621732 PMID:16643430 PMID:17010390 PMID:17576681 PMID:17924555 PMID:19102630 PMID:20301575 PMID:21659346 PMID:22778927 PMID:23067021 PMID:23613520 PMID:24033266 PMID:24136620 PMID:24300640 PMID:24584348 PMID:24728327 PMID:24763404 PMID:24989076 PMID:25703136 PMID:25741868 PMID:26689913 PMID:26740942 PMID:26968956 PMID:27041517 PMID:28024295 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:29154021 PMID:29905759 PMID:30031030 PMID:31558676 PMID:31839986 PMID:32546565 PMID:32947577 PMID:33563768 PMID:33718801 PMID:34422195 PMID:36622392 More...
|
|
NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779
|
|
| G
|
Fanci
|
FA complementation group I
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
|
ClinVar |
PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 PMID:16621917 PMID:17088268 PMID:17412408 PMID:17426723 PMID:17438011 PMID:17452773 PMID:17460694 PMID:17576681 PMID:17924555 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18546365 PMID:18991199 PMID:19010300 PMID:19561358 PMID:19737859 PMID:19763152 PMID:20307669 PMID:20691285 PMID:20971953 PMID:21038416 PMID:21228398 PMID:21324748 PMID:22406018 PMID:22720145 PMID:23093618 PMID:23430898 PMID:23613520 PMID:23783014 PMID:24033266 PMID:24623813 PMID:24989076 PMID:25462018 PMID:25640679 PMID:25741868 PMID:25877891 PMID:25927356 PMID:26104464 PMID:26296701 PMID:26467025 PMID:26590883 PMID:28492532 PMID:28678401 PMID:28875981 PMID:28878254 PMID:29439820 PMID:29625052 PMID:29891941 PMID:30076350 PMID:30303537 PMID:30333958 PMID:30773290 PMID:30792206 PMID:31300551 PMID:31470354 PMID:32054657 PMID:32235514 PMID:32546565 PMID:33461977 PMID:33558524 PMID:34308104 PMID:34585473 PMID:34601666 PMID:34861889 PMID:36307859 PMID:36356413 PMID:36513378 PMID:37216690 More...
|
|
NCBI chrNW_004936483:15,096,215...15,179,856
Ensembl chrNW_004936483:15,106,902...15,179,094
|
|
| G
|
Fancl
|
FA complementation group L
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
|
ClinVar |
PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 PMID:22720145 PMID:23613520 PMID:24033266 PMID:24389026 PMID:25239263 PMID:25659033 PMID:25741868 PMID:25754594 PMID:26149689 PMID:26740942 PMID:26822237 PMID:26822949 PMID:27041517 PMID:27153395 PMID:27986371 PMID:28104920 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29335925 PMID:29416752 PMID:29478780 PMID:29625052 PMID:30306255 PMID:30995915 PMID:31300551 PMID:31513304 PMID:31937788 PMID:31942411 PMID:31980526 PMID:32008151 PMID:32191290 PMID:32235514 PMID:32420600 PMID:32789750 PMID:33727708 PMID:33960719 PMID:34008892 PMID:34308104 PMID:34647594 PMID:35454841 PMID:36622392 PMID:36894310 More...
|
|
NCBI chrNW_004936491:4,057,312...4,119,966
Ensembl chrNW_004936491:4,029,388...4,119,976
|
|
| G
|
Fancm
|
FA complementation group M
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
|
ClinVar |
PMID:2867840 PMID:9536098 PMID:16199547 PMID:17289582 PMID:17576681 PMID:18174376 PMID:18414213 PMID:19379763 PMID:19737859 PMID:19763152 PMID:20307669 PMID:21681190 PMID:22347400 PMID:22406018 PMID:23409019 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25640679 PMID:25741868 PMID:26067930 PMID:26094658 PMID:26130695 PMID:26296701 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26822949 PMID:27626068 PMID:27713038 PMID:27854218 PMID:27913932 PMID:28033443 PMID:28492532 PMID:28569218 PMID:28591191 PMID:28678401 PMID:28702895 PMID:28715532 PMID:28717660 PMID:28837157 PMID:28837162 PMID:28881617 PMID:28975465 PMID:29217778 PMID:29231814 PMID:29287190 PMID:29338072 PMID:29351780 PMID:29461635 PMID:29625052 PMID:29641532 PMID:29760528 PMID:29895858 PMID:30075111 PMID:30426508 PMID:30613976 PMID:30625039 PMID:30666157 PMID:30676620 PMID:30927251 PMID:30995915 PMID:31263571 PMID:31428572 PMID:31589614 PMID:31700994 PMID:31921681 PMID:31970404 PMID:31991861 PMID:32054657 PMID:32235514 PMID:32268276 PMID:32338768 PMID:32427313 PMID:32522261 PMID:32566746 PMID:32868804 PMID:32906206 PMID:32994724 PMID:33036707 PMID:33099839 PMID:33118316 PMID:33163394 PMID:33384420 PMID:33471991 PMID:34117267 PMID:34174131 PMID:34326862 PMID:34482403 PMID:34598035 PMID:34628056 PMID:34646395 PMID:35413094 PMID:35495172 PMID:35534704 PMID:35710434 PMID:35739269 PMID:35739278 PMID:35802266 PMID:35877578 PMID:35884425 PMID:35929646 PMID:36099812 PMID:36293153 PMID:36315097 PMID:36534659 PMID:36551643 PMID:36707629 PMID:37316882 PMID:37349538 PMID:37444426 PMID:37450374 PMID:37646306 PMID:37656691 PMID:37673932 PMID:38874686 More...
|
|
NCBI chrNW_004936583:4,085,802...4,145,621
|
|
| G
|
Flt3lg
|
fms related receptor tyrosine kinase 3 ligand
|
|
ISO
|
protein:increased expression:serum,plasma:
|
RGD |
PMID:7492765 |
RGD:11049505 |
NCBI chrNW_004936664:3,343,541...3,351,590
Ensembl chrNW_004936664:3,343,491...3,350,176
|
|
| G
|
Ifng
|
interferon gamma
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:24021704 |
RGD:11049161 |
NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
|
|
| G
|
Il10
|
interleukin 10
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:24021704 |
RGD:11049161 |
NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
|
|
| G
|
LOC101960318
|
dynein regulatory complex subunit 4
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
|
ClinVar |
PMID:19367192 PMID:28492532 |
|
NCBI chrNW_004936641:92,893...109,006
Ensembl chrNW_004936641:91,497...109,012
|
|
| G
|
Palb2
|
partner and localizer of BRCA2
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia
|
ClinVar |
PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:24136930 PMID:25085752 PMID:25099575 PMID:25741868 PMID:26467025 PMID:26564480 PMID:28492532 More...
|
|
NCBI chrNW_004936501:8,246,927...8,273,258
Ensembl chrNW_004936501:8,247,190...8,273,207
|
|
| G
|
Polg
|
DNA polymerase gamma, catalytic subunit
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
|
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258
|
|
| G
|
Prf1
|
perforin 1
|
|
ISO
|
|
RGD |
PMID:21542827 |
RGD:6482802 |
NCBI chrNW_004936521:8,057,874...8,060,695
Ensembl chrNW_004936521:8,057,874...8,060,695
|
|
| G
|
Rad51c
|
RAD51 paralog C
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
|
ClinVar |
PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 PMID:21750962 PMID:21980511 PMID:21990120 PMID:22167183 PMID:22370629 PMID:22451500 PMID:22476429 PMID:22725699 PMID:23117857 PMID:24082139 PMID:24504028 PMID:25085752 PMID:25086635 PMID:25470109 PMID:25741868 PMID:26057125 PMID:26261251 PMID:26406419 PMID:26467025 PMID:26483394 PMID:26740214 PMID:27153395 PMID:28492532 PMID:32606146 More...
|
|
NCBI chrNW_004936490:4,440,638...4,473,301
Ensembl chrNW_004936490:4,439,097...4,473,357
|
|
| G
|
Rfwd3
|
ring finger and WD repeat domain 3
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936475:23,544,974...23,586,716
Ensembl chrNW_004936475:23,544,953...23,586,740
|
|
| G
|
Slx4
|
SLX4 structure-specific endonuclease subunit
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
|
ClinVar |
PMID:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 PMID:19596236 PMID:21240275 PMID:21240277 PMID:21805310 PMID:22383991 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:23994477 PMID:24037726 PMID:24733792 PMID:24763404 PMID:25288723 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26201965 PMID:26689913 PMID:26824983 PMID:27153395 PMID:27913932 PMID:28125078 PMID:28202063 PMID:28492532 PMID:28623394 PMID:28678401 PMID:29146900 PMID:29344583 PMID:29607586 PMID:29641532 PMID:29868112 PMID:29891941 PMID:29915322 PMID:30268473 PMID:30306255 PMID:30613976 PMID:30995915 PMID:31300551 PMID:31469826 PMID:31921681 PMID:32368696 PMID:32546565 PMID:33270637 PMID:33558524 PMID:33606809 PMID:35739278 PMID:36041235 PMID:36463940 PMID:36622392 PMID:36627197 PMID:36916425 PMID:38349998 More...
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|
NCBI chrNW_004936694:720,585...744,477
Ensembl chrNW_004936694:722,481...744,600
|
|
| G
|
Spata2l
|
spermatogenesis associated 2 like
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
|
ClinVar |
PMID:11091222 PMID:28492532 PMID:29098742 |
|
NCBI chrNW_004936641:347,891...351,951
Ensembl chrNW_004936641:347,882...353,776
|
|
| G
|
Tnf
|
tumor necrosis factor
|
|
ISO
|
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
|
RGD
CTD |
PMID:8438880 PMID:22628295 PMID:24021704 |
RGD:10450524 RGD:11049161 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
|
|
| G
|
Usp1
|
ubiquitin specific peptidase 1
|
|
ISO
|
|
MouseDO |
|
|
NCBI chrNW_004936692:147,699...159,921
Ensembl chrNW_004936692:148,116...159,170
|
|
| G
|
Znf276
|
zinc finger protein 276
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
|
ClinVar |
PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 PMID:10521298 PMID:11091222 PMID:12444097 PMID:12697994 PMID:15059067 PMID:15523645 PMID:15643609 PMID:16084127 PMID:16199547 PMID:17327415 PMID:17576681 PMID:17924555 PMID:18414213 PMID:19278965 PMID:19367192 PMID:21273304 PMID:21659346 PMID:22178060 PMID:22778927 PMID:23021409 PMID:23613520 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24584348 PMID:24728327 PMID:24793135 PMID:25640679 PMID:25741868 PMID:26296701 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27041517 PMID:27854218 PMID:28060124 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28623394 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28873162 PMID:29098742 PMID:29779353 PMID:29904161 PMID:30031030 PMID:30032139 PMID:30792206 PMID:30809872 PMID:30919572 PMID:31248416 PMID:31586946 PMID:31613886 PMID:31698007 PMID:32546565 PMID:33172906 PMID:33686268 PMID:33718801 PMID:33960719 PMID:34308366 PMID:34512202 PMID:34585473 PMID:36894310 PMID:37349538 More...
|
|
NCBI chrNW_004936641:305,423...332,312
Ensembl chrNW_004936641:320,143...332,424
|
|
|
|
| G
|
Brca1
|
BRCA1 DNA repair associated
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group A
|
ClinVar |
PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17279547 PMID:17308087 PMID:17574969 PMID:17924331 PMID:19200354 PMID:19563646 PMID:20516115 PMID:21324516 PMID:21356067 PMID:21473589 PMID:21702907 PMID:21965345 PMID:21990134 PMID:22889855 PMID:23289006 PMID:23867111 PMID:24055113 PMID:24569164 PMID:24728189 PMID:24845084 PMID:25472942 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26884819 PMID:27272900 PMID:27478808 PMID:28265380 PMID:28324225 PMID:28477318 PMID:28492532 PMID:28724667 PMID:28831036 PMID:29161300 PMID:29297111 PMID:29348823 PMID:29446198 PMID:29712865 PMID:30103829 PMID:30287823 PMID:30702160 PMID:30825404 PMID:31336956 PMID:31454914 PMID:31472684 PMID:31825140 PMID:32338768 PMID:33098347 PMID:33468216 PMID:33471991 More...
|
|
NCBI chrNW_004936490:17,735,444...17,801,456
Ensembl chrNW_004936490:17,735,516...17,801,454
|
|
| G
|
Fanca
|
FA complementation group A
|
|
ISO
|
ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A
|
OMIM
ClinVar |
PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:6720839 PMID:08896563 PMID:08896564 PMID:09371798 PMID:09399890 PMID:9536098 PMID:9711872 PMID:09721219 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10373536 PMID:10521298 PMID:10807541 PMID:10862090 PMID:11050007 PMID:11063725 PMID:11091222 PMID:11344308 PMID:11739169 PMID:12031647 PMID:12444097 PMID:12697994 PMID:12827451 PMID:12955722 PMID:14695169 PMID:15059067 PMID:15516848 PMID:15522956 PMID:15523645 PMID:15591268 PMID:15609317 PMID:15643609 PMID:16084127 PMID:16116422 PMID:16199547 PMID:16397136 PMID:16445838 PMID:16611311 PMID:16720839 PMID:16774934 PMID:16946016 PMID:17327415 PMID:17576681 PMID:17726045 PMID:17924555 PMID:18414213 PMID:19109555 PMID:19139070 PMID:19278965 PMID:19367192 PMID:19423727 PMID:20301575 PMID:20435624 PMID:21273304 PMID:21279724 PMID:21519011 PMID:21520333 PMID:21659346 PMID:22178060 PMID:22720145 PMID:22778927 PMID:22950077 PMID:23021409 PMID:23067021 PMID:23613520 PMID:23806870 PMID:23898106 PMID:23934222 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24082139 PMID:24343878 PMID:24349332 PMID:24584348 PMID:24704046 PMID:24728327 PMID:24793135 PMID:24824029 PMID:24989076 PMID:25168418 PMID:25239263 PMID:25288723 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25703136 PMID:25741868 PMID:25741905 PMID:25741913 PMID:25741916 PMID:25751062 PMID:25953249 PMID:26110843 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26201965 PMID:26296701 PMID:26336887 PMID:26467025 PMID:26492932 PMID:26556299 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26833332 PMID:26841305 PMID:27041517 PMID:27148581 PMID:27153395 PMID:27224906 PMID:27577878 PMID:27701467 PMID:27997549 PMID:28060124 PMID:28102861 PMID:28104920 PMID:28202063 PMID:28215707 PMID:28239445 PMID:28259476 PMID:28492532 PMID:28600779 PMID:28623394 PMID:28678401 PMID:28687356 PMID:28717660 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28873162 PMID:28973083 PMID:28975465 PMID:29093742 PMID:29098741 PMID:29098742 PMID:29247345 PMID:29269525 PMID:29338072 PMID:29621589 PMID:29625052 PMID:29641532 PMID:29753700 PMID:29904161 PMID:29976742 PMID:30031030 PMID:30032139 PMID:30050716 PMID:30057198 PMID:30086788 PMID:30134342 PMID:30268473 PMID:30306255 PMID:30541756 PMID:30709382 PMID:30792206 PMID:30836094 PMID:30919572 PMID:31030435 PMID:31102422 PMID:31130284 PMID:31192125 PMID:31259830 PMID:31263571 PMID:31395037 PMID:31432501 PMID:31543367 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31655866 PMID:31698007 PMID:31721781 PMID:31874108 PMID:31911633 PMID:32002546 PMID:32098966 PMID:32107087 PMID:32235514 PMID:32268276 PMID:32487094 PMID:32546565 PMID:32659497 PMID:32659967 PMID:32793304 PMID:32799124 PMID:32850347 PMID:32903519 PMID:32947577 PMID:33020649 PMID:33088445 PMID:33172906 PMID:33224011 PMID:33224012 PMID:33314633 PMID:33332384 PMID:33482836 PMID:33556149 PMID:33558524 PMID:33679882 PMID:33686268 PMID:33718801 PMID:33762291 PMID:33850299 PMID:33883933 PMID:34008892 PMID:34130653 PMID:34173971 PMID:34250406 PMID:34308366 PMID:34422195 PMID:34426522 PMID:34480478 PMID:34512202 PMID:34573280 PMID:34585473 PMID:34598035 PMID:34741701 PMID:34754157 PMID:34864095 PMID:34902740 PMID:34906502 PMID:35171259 PMID:35273153 PMID:35314707 PMID:35348533 PMID:35417938 PMID:35655404 PMID:35854323 PMID:35884425 PMID:36451132 PMID:36463940 PMID:36513378 PMID:36863698 PMID:36894310 PMID:36898365 PMID:37349538 PMID:38779778 PMID:39256447 More...
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|
NCBI chrNW_004936641:281,119...319,796
Ensembl chrNW_004936641:281,073...324,053
|
|
| G
|
Fancb
|
FA complementation group B
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia, group A
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936470:4,305,220...4,323,456
Ensembl chrNW_004936470:4,305,740...4,323,374
|
|
| G
|
Fancc
|
FA complementation group C
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group A
|
ClinVar |
PMID:08128956 PMID:08348157 PMID:12670332 PMID:14726700 PMID:15695377 PMID:24728327 PMID:25741868 PMID:26467025 PMID:27153395 PMID:28492532 PMID:28678401 More...
|
|
NCBI chrNW_004936626:3,980,311...4,147,042
Ensembl chrNW_004936626:3,982,647...4,159,976
|
|
| G
|
Fancd2
|
FA complementation group D2
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group A
|
ClinVar |
PMID:24728327 PMID:25168418 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868
|
|
| G
|
Fancg
|
FA complementation group G
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group A
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779
|
|
| G
|
Fanci
|
FA complementation group I
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group A
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936483:15,096,215...15,179,856
Ensembl chrNW_004936483:15,106,902...15,179,094
|
|
| G
|
Fancl
|
FA complementation group L
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A
|
ClinVar |
PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:32235514 PMID:36135330 More...
|
|
NCBI chrNW_004936491:4,057,312...4,119,966
Ensembl chrNW_004936491:4,029,388...4,119,976
|
|
| G
|
Fancm
|
FA complementation group M
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group A
|
ClinVar |
PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25741868 PMID:26467025 PMID:26822949 PMID:28033443 PMID:28492532 PMID:28837162 PMID:28881617 PMID:29231814 PMID:29351780 PMID:29461635 PMID:30075111 PMID:30426508 PMID:31263571 PMID:31589614 PMID:31700994 PMID:32054657 PMID:32338768 PMID:33099839 PMID:33471991 PMID:34117267 PMID:36099812 PMID:36707629 PMID:37349538 More...
|
|
NCBI chrNW_004936583:4,085,802...4,145,621
|
|
| G
|
Slx4
|
SLX4 structure-specific endonuclease subunit
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A
|
ClinVar |
PMID:21240277 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 PMID:26201965 PMID:28202063 PMID:28492532 PMID:30613976 PMID:32546565 PMID:33606809 More...
|
|
NCBI chrNW_004936694:720,585...744,477
Ensembl chrNW_004936694:722,481...744,600
|
|
| G
|
Vrk2
|
VRK serine/threonine kinase 2
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia, group A
|
ClinVar |
PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:32235514 PMID:36135330 More...
|
|
NCBI chrNW_004936491:3,956,171...4,057,753
Ensembl chrNW_004936491:3,958,588...4,057,738
|
|
| G
|
Znf469
|
zinc finger protein 469
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group A
|
ClinVar |
PMID:25168418 |
|
NCBI chrNW_004936641:1,193,085...1,205,283
|
|
|
|
| G
|
Fancb
|
FA complementation group B
|
|
ISO
|
ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B
|
OMIM
ClinVar |
PMID:8368240 PMID:15502827 PMID:16199547 PMID:16679491 PMID:17924555 PMID:21910217 PMID:23613520 PMID:24033266 PMID:25168418 PMID:25741868 PMID:28492532 PMID:32106311 PMID:32546565 More...
|
|
NCBI chrNW_004936470:4,305,220...4,323,456
Ensembl chrNW_004936470:4,305,740...4,323,374
|
|
|
|
| G
|
Aopep
|
aminopeptidase O (putative)
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group C | ClinVar Annotator: match by term: Fanconi anemia, group C
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936626:3,704,474...3,973,913
Ensembl chrNW_004936626:3,667,123...3,970,433
|
|
| G
|
Fancc
|
FA complementation group C
|
|
ISO
|
ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C
|
OMIM
ClinVar |
PMID:1641028 PMID:7492758 PMID:8081385 PMID:08103176 PMID:08128956 PMID:08348157 PMID:8639804 PMID:8734810 PMID:8799375 PMID:08844212 PMID:9207444 PMID:09452030 PMID:9536098 PMID:10666230 PMID:10994546 PMID:11110674 PMID:11427142 PMID:11520787 PMID:12670332 PMID:14695169 PMID:14726700 PMID:15364573 PMID:15516848 PMID:15695377 PMID:16199547 PMID:16429406 PMID:17576681 PMID:17909071 PMID:17924555 PMID:19622403 PMID:20301575 PMID:20507306 PMID:20869034 PMID:22701786 PMID:22778927 PMID:23028338 PMID:23613520 PMID:23934222 PMID:24584348 PMID:24728327 PMID:25168418 PMID:25741868 PMID:25801821 PMID:26467025 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26778106 PMID:27133164 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28873162 PMID:29038235 PMID:29360161 PMID:29439820 PMID:29625052 PMID:29641532 PMID:29643063 PMID:29719599 PMID:29753700 PMID:29767408 PMID:29922827 PMID:30256826 PMID:30306255 PMID:30322717 PMID:30676620 PMID:31044565 PMID:31300551 PMID:31558676 PMID:31589614 PMID:31722815 PMID:32235514 PMID:32427313 PMID:32546565 PMID:32570879 PMID:32659497 PMID:32885271 PMID:33050356 PMID:33083949 PMID:33471991 PMID:33563768 PMID:34008892 PMID:34308366 PMID:34326862 PMID:34761457 PMID:34958143 PMID:35264596 PMID:35884425 PMID:37349538 More...
|
|
NCBI chrNW_004936626:3,980,311...4,147,042
Ensembl chrNW_004936626:3,982,647...4,159,976
|
|
|
|
| G
|
Brca2
|
BRCA2 DNA repair associated
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group D1
|
ClinVar
OMIM |
PMID:1234 PMID:1843150 PMID:1990134 PMID:2200631 PMID:2206311 PMID:2661312 PMID:2928257 PMID:3108138 PMID:4055113 PMID:7924331 PMID:8075631 PMID:8415037 PMID:8524414 PMID:8589730 PMID:8665505 PMID:8673090 PMID:8673091 PMID:8673092 PMID:8705994 PMID:8758903 PMID:8840963 PMID:8841191 PMID:8841192 PMID:8896551 PMID:8898735 PMID:8988179 PMID:9012404 PMID:9042907 PMID:9042909 PMID:9126734 PMID:9145676 PMID:9150150 PMID:9150152 PMID:9150153 PMID:9150154 PMID:9150172 PMID:9150174 PMID:9361038 PMID:9429140 PMID:9536098 PMID:9585608 PMID:9585613 PMID:9667259 PMID:9758598 PMID:9761393 PMID:9771877 PMID:9792861 PMID:9840533 PMID:9971877 PMID:10188893 PMID:10227398 PMID:10359546 PMID:10399947 PMID:10417300 PMID:10433620 PMID:10449599 PMID:10453741 PMID:10464609 PMID:10464624 PMID:10486320 PMID:10498392 PMID:10550133 PMID:10551859 PMID:10570174 PMID:10595255 PMID:10644434 PMID:10660329 PMID:10682686 PMID:10699917 PMID:10717622 PMID:10728701 PMID:10733239 PMID:10739756 PMID:10755399 PMID:10790213 PMID:10800284 PMID:10874312 PMID:10882858 PMID:10923033 PMID:10978364 PMID:11030417 PMID:11030418 PMID:11039575 PMID:11062481 PMID:11102978 PMID:11106241 PMID:11149425 PMID:11158174 PMID:11170890 PMID:11179017 PMID:11185744 PMID:11207042 PMID:11241844 PMID:11251181 PMID:11307153 PMID:11359068 PMID:11389159 PMID:11400546 PMID:11447276 PMID:11466700 PMID:11504767 PMID:11556836 PMID:11595708 PMID:11597388 PMID:11698567 PMID:11710890 PMID:11754111 PMID:11802209 PMID:11836363 PMID:11843247 PMID:11857748 PMID:11857749 PMID:11873550 PMID:11896095 PMID:11897832 PMID:11920621 PMID:11927503 PMID:11929857 PMID:11938448 PMID:11948123 PMID:11950811 PMID:12048272 PMID:12065746 PMID:12097290 PMID:12100744 PMID:12142080 PMID:12161607 PMID:12181777 PMID:12203997 PMID:12204006 PMID:12215251 PMID:12228710 PMID:12237285 PMID:12373604 PMID:12402332 PMID:12442171 PMID:12442265 PMID:12442274 PMID:12473589 PMID:12474142 PMID:12491487 PMID:12491499 PMID:12552570 PMID:12556369 PMID:12569143 PMID:12624724 PMID:12655567 PMID:12670525 PMID:12684407 PMID:12698193 PMID:12750261 PMID:12750298 PMID:12754708 PMID:12759930 PMID:12774040 PMID:12815053 PMID:12845657 PMID:12920083 PMID:12942367 PMID:12955716 PMID:12955719 PMID:12960223 PMID:14517958 PMID:14555511 PMID:14559878 PMID:14576434 PMID:14647210 PMID:14647438 PMID:14670928 PMID:14732925 PMID:14973102 PMID:15004464 PMID:15024741 PMID:15026808 PMID:15070707 PMID:15115758 PMID:15117986 PMID:15131399 PMID:15145354 PMID:15146557 PMID:15168169 PMID:15172753 PMID:15235023 PMID:15290653 PMID:15317758 PMID:15340362 PMID:15365993 PMID:15382066 PMID:15533909 PMID:15548363 PMID:15617999 PMID:15635067 PMID:15645491 PMID:15689453 PMID:15695382 PMID:15728167 PMID:15744044 PMID:15799620 PMID:15800311 PMID:15800615 PMID:15806175 PMID:15876480 PMID:15887246 PMID:15918047 PMID:15944772 PMID:15955690 PMID:15983021 PMID:15994883 PMID:16030099 PMID:16047333 PMID:16115142 PMID:16141007 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16205630 PMID:16211554 PMID:16234499 PMID:16261408 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16489001 PMID:16528604 PMID:16550498 PMID:16683254 PMID:16741161 PMID:16758124 PMID:16760289 PMID:16792514 PMID:16825431 PMID:16826315 PMID:16847550 PMID:16905680 PMID:16912212 PMID:16920162 PMID:16931905 PMID:16949048 PMID:16978908 PMID:17026620 PMID:17063265 PMID:17063270 PMID:17087817 PMID:17100994 PMID:17148771 PMID:17233897 PMID:17250666 PMID:17257844 PMID:17262179 PMID:17289875 PMID:17301269 PMID:17308087 PMID:17333343 PMID:17341484 PMID:17419707 PMID:17453335 PMID:17513806 PMID:17515903 PMID:17574839 PMID:17576681 PMID:17591843 PMID:17591940 PMID:17592676 PMID:17636422 PMID:17657584 PMID:17688236 PMID:17724471 PMID:17767707 PMID:17850627 PMID:17851763 PMID:17899372 PMID:17924331 PMID:17925560 PMID:17971607 PMID:17972171 PMID:17972177 PMID:17997147 PMID:18006916 PMID:18042939 PMID:18092194 PMID:18182994 PMID:18284688 PMID:18375895 PMID:18393245 PMID:18403564 PMID:18418466 PMID:18424508 PMID:18431501 PMID:18445692 PMID:18446624 PMID:18451181 PMID:18465347 PMID:18489799 PMID:18497862 PMID:18547621 PMID:18559594 PMID:18563556 PMID:18593900 PMID:18607349 PMID:18627636 PMID:18627637 PMID:18693280 PMID:18694767 PMID:18703817 PMID:18704680 PMID:18724707 PMID:18752448 PMID:18779604 PMID:18819001 PMID:18821011 PMID:18824701 PMID:18844490 PMID:18855126 PMID:18951449 PMID:18951461 PMID:19016756 PMID:19030985 PMID:19043619 PMID:19052777 PMID:19188187 PMID:19200354 PMID:19229607 PMID:19241424 PMID:19320659 PMID:19353265 PMID:19471317 PMID:19473207 PMID:19491284 PMID:19499246 PMID:19530235 PMID:19540122 PMID:19563646 PMID:19574032 PMID:19619314 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19656415 PMID:19747923 PMID:19795481 PMID:19796187 PMID:19799798 PMID:19818148 PMID:19861517 PMID:19863560 PMID:19912264 PMID:19941162 PMID:19941167 PMID:19967274 PMID:20020529 PMID:20033483 PMID:20041885 PMID:20054658 PMID:20104584 PMID:20127978 PMID:20135345 PMID:20167696 PMID:20195775 PMID:20215541 PMID:20216074 PMID:20301425 PMID:20373018 PMID:20380699 PMID:20587410 PMID:20589654 PMID:20608899 PMID:20614180 PMID:20616022 PMID:20683152 PMID:20694749 PMID:20736950 PMID:20807450 PMID:20815029 PMID:20858050 PMID:20859677 PMID:20887823 PMID:20927582 PMID:20960228 PMID:21063910 PMID:21120943 PMID:21147080 PMID:21156238 PMID:21203900 PMID:21204799 PMID:21218378 PMID:21232165 PMID:21233401 PMID:21279724 PMID:21285146 PMID:21318380 PMID:21324516 PMID:21356067 PMID:21394826 PMID:21465317 PMID:21497495 PMID:21508395 PMID:21520273 PMID:21520333 PMID:21523855 PMID:21548014 PMID:21559243 PMID:21598239 PMID:21638052 PMID:21643751 PMID:21671020 PMID:21673748 PMID:21702907 PMID:21709188 PMID:21719596 PMID:21720365 PMID:21735045 PMID:21769658 PMID:21789034 PMID:21913181 PMID:21918853 PMID:21939546 PMID:21952622 PMID:21965345 PMID:21990134 PMID:21990165 PMID:22006311 PMID:22009639 PMID:22034289 PMID:22044689 PMID:22085629 PMID:22109874 PMID:22126563 PMID:22144684 PMID:22160602 PMID:22194698 PMID:22217648 PMID:22228431 PMID:22366370 PMID:22382806 PMID:22399190 PMID:22425665 PMID:22426013 PMID:22430266 PMID:22460208 PMID:22476429 PMID:22486713 PMID:22505045 PMID:22527104 PMID:22535016 PMID:22632462 PMID:22638694 PMID:22655046 PMID:22666503 PMID:22678057 PMID:22682623 PMID:22684231 PMID:22703879 PMID:22711857 PMID:22713736 PMID:22720145 PMID:22729890 PMID:22752604 PMID:22753899 PMID:22762150 PMID:22776961 PMID:22798144 PMID:22811390 PMID:22848303 PMID:22863191 PMID:22866093 PMID:22874498 PMID:22875147 PMID:22895246 PMID:22913592 PMID:22921157 PMID:22921312 PMID:22923021 PMID:22962691 PMID:22970155 PMID:22977638 PMID:22995991 PMID:23028338 PMID:23035815 PMID:23071527 PMID:23096105 PMID:23096355 PMID:23108138 PMID:23110154 PMID:23146383 PMID:23199084 PMID:23231788 PMID:23233716 PMID:23249957 PMID:23318356 PMID:23320992 PMID:23328489 PMID:23341105 PMID:23415752 PMID:23469205 PMID:23479189 PMID:23531862 PMID:23535729 PMID:23555315 PMID:23569310 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23628597 PMID:23633455 PMID:23635950 PMID:23658460 PMID:23683081 PMID:23704879 PMID:23704984 PMID:23725378 PMID:23729402 PMID:23747895 PMID:23767878 PMID:23884708 PMID:23885733 PMID:23893897 PMID:23929434 PMID:23940062 PMID:23942203 PMID:23960188 PMID:23961350 PMID:23966579 PMID:23977390 PMID:23983145 PMID:24010542 PMID:24013206 PMID:24033266 PMID:24052750 PMID:24055113 PMID:24065114 PMID:24082139 PMID:24094589 PMID:24123850 PMID:24156927 PMID:24212087 PMID:24249303 PMID:24259538 PMID:24301060 PMID:24312913 PMID:24323938 PMID:24333842 PMID:24337145 PMID:24348212 PMID:24372583 PMID:24395671 PMID:24448499 PMID:24489791 PMID:24504028 PMID:24528374 PMID:24549055 PMID:24556621 PMID:24578176 PMID:24578186 PMID:24607278 PMID:24618965 PMID:24728189 PMID:24728327 PMID:24735155 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25007954 PMID:25066507 PMID:25072261 PMID:25085752 PMID:25103822 PMID:25136594 PMID:25146914 PMID:25186627 PMID:25203624 PMID:25233892 PMID:25236687 PMID:25256924 PMID:25274553 PMID:25330149 PMID:25348012 PMID:25371446 PMID:25381700 PMID:25382762 PMID:25395318 PMID:25428789 PMID:25447315 PMID:25452441 PMID:25476495 PMID:25479140 PMID:25525159 PMID:25556971 PMID:25569433 PMID:25628955 PMID:25637381 PMID:25639900 PMID:25682074 PMID:25685387 PMID:25716084 PMID:25741868 PMID:25777348 PMID:25782689 PMID:25801821 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25896959 PMID:25927356 PMID:25948282 PMID:25980754 PMID:26014432 PMID:26022348 PMID:26026974 PMID:26041759 PMID:26046366 PMID:26064523 PMID:26067864 PMID:26145171 PMID:26155992 PMID:26183948 PMID:26187060 PMID:26207792 PMID:26219728 PMID:26221963 PMID:26250392 PMID:26287763 PMID:26295337 PMID:26296701 PMID:26300996 PMID:26306726 PMID:26315209 PMID:26317927 PMID:26332594 PMID:26350514 PMID:26360800 PMID:26425718 PMID:26439132 PMID:26440929 PMID:26455428 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26541979 PMID:26543556 PMID:26556299 PMID:26576347 PMID:26577449 PMID:26580448 PMID:26586665 PMID:26657402 PMID:26681312 PMID:26681682 PMID:26687385 PMID:26689913 PMID:26692440 PMID:26709275 PMID:26724258 PMID:26733283 PMID:26740091 PMID:26740942 PMID:26757417 PMID:26757435 PMID:26761715 PMID:26780556 PMID:26786923 PMID:26787237 PMID:26834852 PMID:26845104 PMID:26846091 PMID:26848529 PMID:26852015 PMID:26867194 PMID:26898890 PMID:26915939 PMID:26920070 PMID:26933808 PMID:26968956 PMID:27062684 PMID:27124784 PMID:27153395 PMID:27157322 PMID:27165126 PMID:27208206 PMID:27225637 PMID:27257965 PMID:27273131 PMID:27376475 PMID:27383479 PMID:27393621 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27495310 PMID:27498913 PMID:27516001 PMID:27535533 PMID:27553368 PMID:27616075 PMID:27628236 PMID:27633797 PMID:27658390 PMID:27701467 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:27878467 PMID:27907908 PMID:27914478 PMID:27978560 PMID:27989354 PMID:28008555 PMID:28039656 PMID:28087643 PMID:28111427 PMID:28127413 PMID:28132688 PMID:28135145 PMID:28152038 PMID:28176296 PMID:28179634 PMID:28195393 PMID:28222693 PMID:28231738 PMID:28243543 PMID:28263838 PMID:28281021 PMID:28283652 PMID:28284943 PMID:28288110 PMID:28294317 PMID:28301460 PMID:28324225 PMID:28338653 PMID:28339459 PMID:28346442 PMID:28349240 PMID:28364669 PMID:28422718 PMID:28423363 PMID:28435519 PMID:28439188 PMID:28476184 PMID:28477318 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28528518 PMID:28541631 PMID:28616458 PMID:28632866 PMID:28640387 PMID:28651617 PMID:28657667 PMID:28664449 PMID:28664506 PMID:28678401 PMID:28680148 PMID:28687971 PMID:28692638 PMID:28715532 PMID:28724667 PMID:28726806 PMID:28726808 PMID:28767289 PMID:28782087 PMID:28802053 PMID:28807866 PMID:28814288 PMID:28831036 PMID:28843361 PMID:28873162 PMID:28888541 PMID:28905878 PMID:28918466 PMID:28944232 PMID:28947987 PMID:28961279 PMID:28973083 PMID:28975465 PMID:28985766 PMID:28993434 PMID:29020732 PMID:29021639 PMID:29053726 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29126202 PMID:29161300 PMID:29176636 PMID:29192238 PMID:29202330 PMID:29215753 PMID:29236234 PMID:29240602 PMID:29302806 PMID:29310832 PMID:29321669 PMID:29325860 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29346284 PMID:29348823 PMID:29360161 PMID:29360550 PMID:29368341 PMID:29371908 PMID:29394989 PMID:29395620 PMID:29416040 PMID:29433453 PMID:29435039 PMID:29439820 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29560538 PMID:29566657 PMID:29580235 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29667044 PMID:29681614 PMID:29731985 PMID:29750258 PMID:29752822 PMID:29753700 PMID:29758562 PMID:29766361 PMID:29790872 PMID:29797126 PMID:29802286 PMID:29854292 PMID:29860059 PMID:29884136 PMID:29884841 PMID:29907814 PMID:29909963 PMID:29915322 PMID:29922827 PMID:29937315 PMID:29945567 PMID:29961768 PMID:29978187 PMID:29988080 PMID:30014164 PMID:30032850 PMID:30040829 PMID:30055349 PMID:30078507 PMID:30093976 PMID:30103829 PMID:30113427 PMID:30122538 PMID:30128899 PMID:30130155 PMID:30152102 PMID:30159786 PMID:30181556 PMID:30186769 PMID:30192042 PMID:30199306 PMID:30204945 PMID:30207912 PMID:30212499 PMID:30217213 PMID:30254663 PMID:30257646 PMID:30262796 PMID:30267214 PMID:30274973 PMID:30286154 PMID:30287823 PMID:30309222 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30400234 PMID:30415210 PMID:30425037 PMID:30430080 PMID:30447919 PMID:30472649 PMID:30489631 PMID:30541756 PMID:30548481 PMID:30555256 PMID:30606148 PMID:30609409 PMID:30611917 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30623411 PMID:30625039 PMID:30630528 PMID:30652428 PMID:30696104 PMID:30702160 PMID:30715675 PMID:30716324 PMID:30720243 PMID:30720863 PMID:30736435 PMID:30742731 PMID:30787465 PMID:30792206 PMID:30825404 PMID:30875412 PMID:30877237 PMID:30883245 PMID:30883759 PMID:30972954 PMID:30982232 PMID:31060523 PMID:31090900 PMID:31112341 PMID:31112363 PMID:31131559 PMID:31131967 PMID:31143303 PMID:31143373 PMID:31159747 PMID:31174498 PMID:31191615 PMID:31209999 PMID:31214711 PMID:31248605 PMID:31263054 PMID:31263500 PMID:31263571 PMID:31294896 PMID:31300551 PMID:31325073 PMID:31331294 PMID:31336956 PMID:31343793 PMID:31360904 PMID:31372034 PMID:31396961 PMID:31409081 PMID:31411802 PMID:31422574 PMID:31432501 PMID:31444830 PMID:31446535 PMID:31447099 PMID:31451522 PMID:31454914 PMID:31464824 PMID:31558676 PMID:31569370 PMID:31589614 PMID:31642931 PMID:31666926 PMID:31706072 PMID:31721781 PMID:31742824 PMID:31782247 PMID:31794323 PMID:31825140 PMID:31837001 PMID:31843900 PMID:31853058 PMID:31869745 PMID:31871109 PMID:31874108 PMID:31892343 PMID:31911673 PMID:31921681 PMID:31924417 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32002120 PMID:32022259 PMID:32029870 PMID:32039725 PMID:32046981 PMID:32058061 PMID:32068069 PMID:32072338 PMID:32073954 PMID:32091409 PMID:32098980 PMID:32101877 PMID:32123317 PMID:32132887 PMID:32164353 PMID:32190957 PMID:32255556 PMID:32256484 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32365798 PMID:32375709 PMID:32380732 PMID:32393398 PMID:32398771 PMID:32426482 PMID:32427313 PMID:32438681 PMID:32444794 PMID:32455662 PMID:32467295 PMID:32486089 PMID:32489267 PMID:32521533 PMID:32531196 PMID:32532514 PMID:32571290 PMID:32581362 PMID:32606146 PMID:32641407 PMID:32659497 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32778078 PMID:32782288 PMID:32806537 PMID:32817299 PMID:32824581 PMID:32832836 PMID:32846166 PMID:32850417 PMID:32853339 PMID:32854451 PMID:32856869 PMID:32866190 PMID:32872764 PMID:32875559 PMID:32885271 PMID:32906206 PMID:32918181 PMID:32923906 PMID:32957395 PMID:32980694 PMID:32984025 PMID:33008098 PMID:33054725 PMID:33067490 PMID:33077847 PMID:33078592 PMID:33084842 PMID:33087929 PMID:33113089 PMID:33151324 PMID:33287145 PMID:33293522 PMID:33302456 PMID:33309985 PMID:33314489 PMID:33372952 PMID:33403015 PMID:33461583 PMID:33461977 PMID:33471991 PMID:33478551 PMID:33526602 PMID:33552952 PMID:33558524 PMID:33606809 PMID:33608381 PMID:33609447 PMID:33629534 PMID:33643918 PMID:33646313 PMID:33654310 PMID:33670479 PMID:33720054 PMID:33731496 PMID:33773534 PMID:33773808 PMID:33801055 PMID:33804961 PMID:33808557 PMID:33842585 PMID:33850850 PMID:33858029 PMID:33868589 PMID:33891299 PMID:33918338 PMID:33964450 PMID:33970096 PMID:33978741 PMID:34008015 PMID:34022715 PMID:34072659 PMID:34097676 PMID:34101484 PMID:34178674 PMID:34196900 PMID:34218100 PMID:34235180 PMID:34250417 PMID:34284872 PMID:34287479 PMID:34298626 PMID:34308104 PMID:34308366 PMID:34309133 PMID:34316023 PMID:34326862 PMID:34350294 PMID:34399810 PMID:34413315 PMID:34500047 PMID:34503154 PMID:34541275 PMID:34567246 PMID:34572941 PMID:34597585 PMID:34645131 PMID:34657357 PMID:34657373 PMID:34660253 PMID:34680387 PMID:34687993 PMID:34697207 PMID:34700141 PMID:34717758 PMID:34741701 PMID:34970085 PMID:35171259 PMID:35205313 PMID:35218119 PMID:35220195 PMID:35264596 PMID:35278150 PMID:35353237 PMID:35365640 PMID:35451682 PMID:35464868 PMID:35534704 PMID:35535697 PMID:35641994 PMID:35665744 PMID:35714671 PMID:35736817 PMID:35741847 PMID:35753294 PMID:35762214 PMID:35864222 PMID:35875314 PMID:35918668 PMID:35949895 PMID:35979650 PMID:35980532 PMID:36119527 PMID:36140756 PMID:36169650 PMID:36171877 PMID:36179682 PMID:36232564 PMID:36243179 PMID:36292577 PMID:36315513 PMID:36329109 PMID:36367610 PMID:36370215 PMID:36397405 PMID:36451132 PMID:36474027 PMID:36627197 PMID:36721989 PMID:36881271 PMID:36922933 PMID:36974006 PMID:36980738 PMID:36988593 PMID:36998040 PMID:37216690 PMID:37306523 PMID:37310942 PMID:37344829 PMID:37349538 PMID:37415649 PMID:37460658 PMID:37461096 PMID:37644014 PMID:37725154 PMID:37791389 PMID:37916805 PMID:37922907 PMID:37951914 PMID:38069422 PMID:38153744 PMID:38308422 PMID:38355628 PMID:38409497 PMID:38480854 PMID:38922859 PMID:39062721 PMID:39194688 PMID:39779857 More...
|
|
NCBI chrNW_004936472:26,945,659...27,017,693
|
|
|
|
| G
|
Brip1
|
BRCA1 interacting DNA helicase 1
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group D2
|
ClinVar |
PMID:16116423 PMID:17033622 PMID:21964575 PMID:25186627 PMID:25741868 PMID:26467025 PMID:27462233 PMID:28492532 PMID:29368626 PMID:29625052 PMID:32318955 More...
|
|
NCBI chrNW_004936490:3,001,445...3,139,538
Ensembl chrNW_004936490:3,003,484...3,137,479
|
|
| G
|
Fancd2
|
FA complementation group D2
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group D2
|
OMIM
ClinVar |
PMID:9536098 PMID:11239453 PMID:16199547 PMID:17308347 PMID:17436244 PMID:17576681 PMID:21356188 PMID:22720145 PMID:22828868 PMID:23285130 PMID:23613520 PMID:24033266 PMID:24728327 PMID:25168418 PMID:25703294 PMID:25741868 PMID:26580448 PMID:26740942 PMID:27041517 PMID:27931139 PMID:28202063 PMID:28386063 PMID:28492532 PMID:28678401 PMID:29625052 PMID:29659569 PMID:30256826 PMID:30306255 PMID:30633423 PMID:30716324 PMID:31586946 PMID:32546565 PMID:32581362 PMID:32659967 PMID:32867815 PMID:33558524 PMID:36463940 PMID:37216690 More...
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NCBI chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868
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| G
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Fancd2os
|
FANCD2 opposite strand
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ISO
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ClinVar Annotator: match by term: Fanconi anemia complementation group D2
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ClinVar |
PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 PMID:23285130 PMID:23613520 PMID:24728327 PMID:25741868 PMID:25927356 PMID:28492532 PMID:29625052 PMID:30256826 PMID:31586946 PMID:32546565 PMID:32581362 PMID:34308104 PMID:34585473 PMID:36463940 More...
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NCBI chrNW_004936602:3,160,505...3,161,374
Ensembl chrNW_004936602:3,160,508...3,161,044
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| G
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Pex5
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peroxisomal biogenesis factor 5
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ISO
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ClinVar Annotator: match by term: Fanconi anemia complementation group D2
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247
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| G
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Fance
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FA complementation group E
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ISO
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ClinVar Annotator: match by term: Fanconi anemia complementation group E
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OMIM
ClinVar |
PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 PMID:14695169 PMID:15609317 PMID:16199547 PMID:16774934 PMID:17308347 PMID:17576681 PMID:17924555 PMID:18271933 PMID:21279724 PMID:22778927 PMID:24033266 PMID:24728327 PMID:25058500 PMID:25741868 PMID:26689913 PMID:26822949 PMID:27165003 PMID:27913932 PMID:28492532 PMID:29625052 PMID:30609409 PMID:31102422 PMID:32487094 PMID:32546565 PMID:32947577 PMID:33084842 PMID:33270637 PMID:33326660 PMID:34687117 PMID:35295078 PMID:36463940 PMID:36622392 More...
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NCBI chrNW_004936476:23,783,161...23,794,646
Ensembl chrNW_004936476:23,782,977...23,794,708
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| G
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Fancf
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FA complementation group F
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ISO
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ClinVar Annotator: match by term: Fanconi anemia complementation group F
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OMIM
ClinVar |
PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 PMID:16084127 PMID:16774934 PMID:17082180 PMID:17924555 PMID:18271933 PMID:22778927 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26033879 PMID:27714961 PMID:28102861 PMID:28259476 PMID:28492532 PMID:28678401 PMID:28687356 PMID:29368431 PMID:29625052 PMID:30256826 PMID:30262796 PMID:30680046 PMID:30995915 PMID:31288759 PMID:31721781 PMID:31882575 PMID:33850299 PMID:34117267 More...
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NCBI chrNW_004936654:3,298,193...3,301,251
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|
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| G
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Fancg
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FA complementation group G
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ISO
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ClinVar Annotator: match by term: FANCG-related disorder | ClinVar Annotator: match by term: Fanconi anemia complementation group G
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OMIM
ClinVar |
PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 PMID:11093276 PMID:11126723 PMID:11438206 PMID:12552564 PMID:12673805 PMID:15657175 PMID:16084127 PMID:16199547 PMID:16621732 PMID:16643430 PMID:17010390 PMID:17576681 PMID:17924555 PMID:19102630 PMID:20301575 PMID:21659346 PMID:22778927 PMID:23067021 PMID:23613520 PMID:24033266 PMID:24136620 PMID:24300640 PMID:24584348 PMID:24728327 PMID:24763404 PMID:25703136 PMID:25741868 PMID:26689913 PMID:26968956 PMID:27041517 PMID:28024295 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:29905759 PMID:30031030 PMID:31558676 PMID:31839986 PMID:32546565 PMID:32947577 PMID:33563768 PMID:33718801 PMID:34422195 More...
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NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779
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| G
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Fanci
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FA complementation group I
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ISO
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ClinVar Annotator: match by term: FANCI-related disorder | ClinVar Annotator: match by term: Fanconi anemia complementation group I
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OMIM
ClinVar |
PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 PMID:17576681 PMID:17924555 PMID:18414213 PMID:18931676 PMID:19561358 PMID:20971953 PMID:21324748 PMID:22720145 PMID:23093618 PMID:23613520 PMID:24623813 PMID:24989076 PMID:25741868 PMID:25877891 PMID:25927356 PMID:26296701 PMID:26590883 PMID:28492532 PMID:28678401 PMID:28875981 PMID:28878254 PMID:29439820 PMID:29625052 PMID:29891941 PMID:30076350 PMID:30303537 PMID:30333958 PMID:30773290 PMID:30792206 PMID:31300551 PMID:31470354 PMID:32054657 PMID:32546565 PMID:33461977 PMID:33558524 PMID:34861889 PMID:36356413 PMID:36513378 PMID:37216690 More...
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NCBI chrNW_004936483:15,096,215...15,179,856
Ensembl chrNW_004936483:15,106,902...15,179,094
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| G
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Brip1
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BRCA1 interacting DNA helicase 1
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ISO
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ClinVar Annotator: match by term: Fanconi anemia complementation group J
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ClinVar
OMIM |
PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 PMID:14983014 PMID:15125843 PMID:15285897 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16116426 PMID:16153896 PMID:16199547 PMID:16280053 PMID:16430786 PMID:16973432 PMID:17033622 PMID:17145708 PMID:17342202 PMID:17576681 PMID:17596542 PMID:18414782 PMID:18426915 PMID:18483852 PMID:18510924 PMID:18628483 PMID:18978354 PMID:19099189 PMID:19127258 PMID:19150983 PMID:19197335 PMID:19339519 PMID:19379763 PMID:19442249 PMID:19519404 PMID:19584272 PMID:19763819 PMID:19935797 PMID:20068231 PMID:20159562 PMID:20168331 PMID:20173781 PMID:20616022 PMID:20639400 PMID:20980836 PMID:21127055 PMID:21165771 PMID:21279724 PMID:21345144 PMID:21356067 PMID:21409391 PMID:21934575 PMID:21964575 PMID:22006311 PMID:22024395 PMID:22264603 PMID:22287629 PMID:22582397 PMID:22692731 PMID:22792074 PMID:23161009 PMID:23276657 PMID:23555315 PMID:23613520 PMID:23644138 PMID:23935105 PMID:24033266 PMID:24123366 PMID:24240112 PMID:24376576 PMID:24448499 PMID:24487782 PMID:24556621 PMID:24573678 PMID:24584348 PMID:24728327 PMID:24755471 PMID:24763289 PMID:24895130 PMID:25058500 PMID:25186627 PMID:25256751 PMID:25318351 PMID:25330149 PMID:25374583 PMID:25452441 PMID:25503501 PMID:25583461 PMID:25646469 PMID:25722345 PMID:25741868 PMID:25783483 PMID:25801821 PMID:25807282 PMID:25846551 PMID:25980754 PMID:25981591 PMID:26206375 PMID:26207792 PMID:26264438 PMID:26296696 PMID:26315354 PMID:26329992 PMID:26416542 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26589913 PMID:26596371 PMID:26635394 PMID:26659599 PMID:26681312 PMID:26681682 PMID:26689913 PMID:26709662 PMID:26720728 PMID:26757417 PMID:26786923 PMID:26790966 PMID:26822149 PMID:26822949 PMID:26824983 PMID:26845104 PMID:26901136 PMID:26911350 PMID:26921362 PMID:26968956 PMID:26976419 PMID:27074266 PMID:27107905 PMID:27150160 PMID:27153395 PMID:27165003 PMID:27179029 PMID:27193682 PMID:27427815 PMID:27433846 PMID:27443514 PMID:27458550 PMID:27471560 PMID:27498913 PMID:27527004 PMID:27547810 PMID:27553368 PMID:27621404 PMID:27701467 PMID:27978560 PMID:27997549 PMID:28076423 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28423363 PMID:28452373 PMID:28486781 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28528518 PMID:28678401 PMID:28709830 PMID:28767289 PMID:28796317 PMID:28828701 PMID:28873162 PMID:28888541 PMID:28911102 PMID:28991257 PMID:29263802 PMID:29335925 PMID:29338689 PMID:29360161 PMID:29368626 PMID:29470806 PMID:29478780 PMID:29596542 PMID:29625052 PMID:29636988 PMID:29641532 PMID:29667044 PMID:29752822 PMID:29788478 PMID:29922827 PMID:29929473 PMID:29958926 PMID:29961768 PMID:30086788 PMID:30093976 PMID:30130155 PMID:30154229 PMID:30230034 PMID:30254378 PMID:30256826 PMID:30262796 PMID:30263514 PMID:30264118 PMID:30267214 PMID:30295334 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30374176 PMID:30414346 PMID:30426508 PMID:30441849 PMID:30612635 PMID:30613976 PMID:30651582 PMID:30680046 PMID:30716324 PMID:30728895 PMID:30833958 PMID:30982232 PMID:31118792 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214711 PMID:31265121 PMID:31300551 PMID:31325073 PMID:31341520 PMID:31366178 PMID:31422574 PMID:31512090 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31642931 PMID:31666926 PMID:31742824 PMID:31745173 PMID:31786208 PMID:31794323 PMID:31822495 PMID:31843900 PMID:31844177 PMID:31871109 PMID:31882575 PMID:31980526 PMID:32019284 PMID:32068069 PMID:32091409 PMID:32231423 PMID:32242007 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32359370 PMID:32371905 PMID:32426482 PMID:32427313 PMID:32522261 PMID:32542039 PMID:32566746 PMID:32658311 PMID:32659497 PMID:32756499 PMID:32830346 PMID:32832836 PMID:32866190 PMID:32885271 PMID:32906206 PMID:32936981 PMID:32959997 PMID:32980694 PMID:32986223 PMID:33028645 PMID:33047316 PMID:33115781 PMID:33120919 PMID:33134171 PMID:33224012 PMID:33309985 PMID:33313162 PMID:33359728 PMID:33471991 PMID:33546375 PMID:33552952 PMID:33619228 PMID:33646313 PMID:33649982 PMID:33804951 PMID:33804961 PMID:33840814 PMID:33842585 PMID:33910496 PMID:33980423 PMID:34011307 PMID:34026625 PMID:34072463 PMID:34204722 PMID:34284872 PMID:34326862 PMID:34503154 PMID:34570441 PMID:34585473 PMID:34585738 PMID:34607609 PMID:34646395 PMID:34887416 PMID:35022142 PMID:35089076 PMID:35118230 PMID:35127508 PMID:35171259 PMID:35186721 PMID:35205822 PMID:35263119 PMID:35264596 PMID:35441217 PMID:35467778 PMID:35534704 PMID:35734982 PMID:35739278 PMID:35957908 PMID:35980532 PMID:35986085 PMID:36011273 PMID:36035419 PMID:36169650 PMID:36243179 PMID:36315513 PMID:36338706 PMID:36446039 PMID:36627197 PMID:36630951 PMID:36672847 PMID:36845387 PMID:36896836 PMID:36922933 PMID:36978154 PMID:36988593 PMID:37216690 PMID:37885353 PMID:38060977 PMID:38136308 PMID:38298632 PMID:38350919 PMID:38734904 PMID:38781545 PMID:38874686 PMID:39400928 More...
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NCBI chrNW_004936490:3,001,445...3,139,538
Ensembl chrNW_004936490:3,003,484...3,137,479
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| G
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Fancl
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FA complementation group L
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ISO
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ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L
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OMIM
ClinVar |
PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 PMID:19111657 PMID:19405097 PMID:22720145 PMID:23613520 PMID:24033266 PMID:24389026 PMID:25239263 PMID:25659033 PMID:25741868 PMID:25754594 PMID:26149689 PMID:26740942 PMID:27041517 PMID:27153395 PMID:27986371 PMID:28104920 PMID:28423363 PMID:28492532 PMID:28767289 PMID:29335925 PMID:29416752 PMID:29478780 PMID:29625052 PMID:30995915 PMID:31300551 PMID:31513304 PMID:31937788 PMID:31942411 PMID:31980526 PMID:32008151 PMID:32191290 PMID:32420600 PMID:32789750 PMID:33727708 PMID:33960719 PMID:34008892 PMID:34308104 PMID:35454841 PMID:36894310 More...
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NCBI chrNW_004936491:4,057,312...4,119,966
Ensembl chrNW_004936491:4,029,388...4,119,976
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| G
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Fancm
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FA complementation group M
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ISO
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ClinVar Annotator: match by term: Fanconi anemia, complementation group M
|
ClinVar |
PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33471991 PMID:34326862 PMID:34628056 PMID:35802266 PMID:37656691 More...
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NCBI chrNW_004936583:4,085,802...4,145,621
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|
|
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| G
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Palb2
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partner and localizer of BRCA2
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ISO
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ClinVar Annotator: match by term: Fanconi anemia complementation group N
|
ClinVar
OMIM |
PMID:9536098 PMID:17200668 PMID:17200671 PMID:17200672 PMID:17287723 PMID:17420451 PMID:17576681 PMID:17924555 PMID:18053174 PMID:18288683 PMID:18302019 PMID:18446436 PMID:18987736 PMID:19264984 PMID:19333784 PMID:19584259 PMID:19609323 PMID:19635604 PMID:19763819 PMID:19763884 PMID:20091115 PMID:20122277 PMID:20180015 PMID:20412113 PMID:20582465 PMID:20589654 PMID:20722467 PMID:20852946 PMID:20858716 PMID:20925782 PMID:20927582 PMID:21113654 PMID:21165770 PMID:21182766 PMID:21184274 PMID:21279724 PMID:21285249 PMID:21356067 PMID:21365267 PMID:21409391 PMID:21618343 PMID:21635267 PMID:21932393 PMID:22006311 PMID:22052327 PMID:22241545 PMID:22310028 PMID:22692731 PMID:22895193 PMID:22995991 PMID:23110154 PMID:23341105 PMID:23448497 PMID:23471749 PMID:23555315 PMID:23561644 PMID:23787919 PMID:23824750 PMID:23934836 PMID:23935381 PMID:23935836 PMID:23977390 PMID:24033266 PMID:24061862 PMID:24136930 PMID:24141787 PMID:24206657 PMID:24415441 PMID:24448499 PMID:24485656 PMID:24549055 PMID:24556926 PMID:24728327 PMID:24763289 PMID:24870022 PMID:24949998 PMID:25085752 PMID:25099575 PMID:25099585 PMID:25117502 PMID:25186627 PMID:25225577 PMID:25326637 PMID:25330149 PMID:25356972 PMID:25428789 PMID:25447460 PMID:25452441 PMID:25479140 PMID:25503501 PMID:25525159 PMID:25575445 PMID:25583207 PMID:25666743 PMID:25741868 PMID:25794774 PMID:25897114 PMID:25959805 PMID:25980754 PMID:26023681 PMID:26083025 PMID:26094658 PMID:26270727 PMID:26283626 PMID:26296701 PMID:26315354 PMID:26315534 PMID:26411315 PMID:26467025 PMID:26485759 PMID:26489409 PMID:26534844 PMID:26541979 PMID:26556299 PMID:26564480 PMID:26580448 PMID:26641009 PMID:26681312 PMID:26689913 PMID:26692951 PMID:26720728 PMID:26740942 PMID:26786923 PMID:26845104 PMID:26878173 PMID:26898890 PMID:26976419 PMID:26990772 PMID:27038244 PMID:27067391 PMID:27093186 PMID:27099641 PMID:27106063 PMID:27153395 PMID:27328445 PMID:27356891 PMID:27397723 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27553368 PMID:27573125 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27624329 PMID:27631815 PMID:27701467 PMID:27779110 PMID:27783279 PMID:27798748 PMID:27829436 PMID:27878467 PMID:27913932 PMID:27930734 PMID:27978560 PMID:28008555 PMID:28051113 PMID:28135048 PMID:28135145 PMID:28152038 PMID:28158555 PMID:28194609 PMID:28279176 PMID:28281021 PMID:28319063 PMID:28380452 PMID:28423363 PMID:28440294 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28524162 PMID:28528518 PMID:28580595 PMID:28664506 PMID:28678401 PMID:28709830 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28794409 PMID:28796317 PMID:28825143 PMID:28828701 PMID:28864920 PMID:28873162 PMID:28888541 PMID:28944238 PMID:29052111 PMID:29053726 PMID:29093764 PMID:29190888 PMID:29263802 PMID:29338689 PMID:29360161 PMID:29368341 PMID:29387807 PMID:29431189 PMID:29458332 PMID:29470806 PMID:29478780 PMID:29486991 PMID:29506128 PMID:29522266 PMID:29566657 PMID:29625052 PMID:29641532 PMID:29667044 PMID:29731985 PMID:29752822 PMID:29753700 PMID:29758562 PMID:29785153 PMID:29802286 PMID:29909963 PMID:29915322 PMID:29922827 PMID:29945567 PMID:29961768 PMID:30014022 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30113427 PMID:30128536 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309218 PMID:30322717 PMID:30521987 PMID:30541756 PMID:30635165 PMID:30638972 PMID:30651582 PMID:30665703 PMID:30680046 PMID:30720863 PMID:30792206 PMID:30827823 PMID:30833416 PMID:30836094 PMID:30883245 PMID:30890586 PMID:30982232 PMID:30995915 PMID:31054147 PMID:31089269 PMID:31090900 PMID:31159747 PMID:31206626 PMID:31214711 PMID:31263054 PMID:31300551 PMID:31312277 PMID:31422574 PMID:31428572 PMID:31428676 PMID:31446535 PMID:31447099 PMID:31451522 PMID:31467304 PMID:31470354 PMID:31512090 PMID:31570822 PMID:31575519 PMID:31586400 PMID:31589614 PMID:31619740 PMID:31636395 PMID:31642931 PMID:31650731 PMID:31721781 PMID:31742824 PMID:31757951 PMID:31768816 PMID:31786208 PMID:31841383 PMID:31843900 PMID:31844177 PMID:32012241 PMID:32019277 PMID:32048105 PMID:32068069 PMID:32081490 PMID:32133419 PMID:32185139 PMID:32206661 PMID:32238468 PMID:32255556 PMID:32295079 PMID:32338768 PMID:32339256 PMID:32426482 PMID:32427313 PMID:32521533 PMID:32531196 PMID:32546565 PMID:32554798 PMID:32566746 PMID:32581362 PMID:32658311 PMID:32659497 PMID:32720237 PMID:32830346 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32868316 PMID:32885271 PMID:32980694 PMID:32997802 PMID:33113089 PMID:33128190 PMID:33139182 PMID:33169439 PMID:33193564 PMID:33195396 PMID:33309985 PMID:33320972 PMID:33471991 PMID:33512806 PMID:33558524 PMID:33630411 PMID:33646313 PMID:33674644 PMID:33758026 PMID:33809179 PMID:33811135 PMID:33917078 PMID:33964450 PMID:33980423 PMID:34034685 PMID:34092963 PMID:34113003 PMID:34204722 PMID:34284872 PMID:34326862 PMID:34357101 PMID:34426522 PMID:34439348 PMID:34478935 PMID:34608183 PMID:34687117 PMID:34793666 PMID:34846068 PMID:34917121 PMID:35038823 PMID:35087742 PMID:35089076 PMID:35171259 PMID:35263119 PMID:35264596 PMID:35402282 PMID:35441217 PMID:35449021 PMID:35451682 PMID:35534704 PMID:35585550 PMID:35610400 PMID:35626031 PMID:35676859 PMID:35762214 PMID:35806449 PMID:35853885 PMID:35980532 PMID:36003761 PMID:36169650 PMID:36175305 PMID:36207130 PMID:36243179 PMID:36451132 PMID:36605468 PMID:36622392 PMID:36627197 PMID:36744932 PMID:36978154 PMID:36980780 PMID:36988593 PMID:37013556 PMID:37239058 PMID:37415201 PMID:37436117 PMID:37628606 PMID:37686625 PMID:37937776 PMID:38136308 PMID:38153744 PMID:38355628 PMID:38476606 PMID:39251783 PMID:39518003 PMID:39999518 More...
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NCBI chrNW_004936501:8,246,927...8,273,258
Ensembl chrNW_004936501:8,247,190...8,273,207
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|
|
| G
|
Rad51c
|
RAD51 paralog C
|
susceptibility
|
ISO
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ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition
|
ClinVar
OMIM |
PMID:1731253 PMID:2159791 PMID:2927873 PMID:5806449 PMID:9536098 PMID:12442171 PMID:12966089 PMID:14704354 PMID:15126333 PMID:15170666 PMID:15336628 PMID:16199547 PMID:17576681 PMID:18203022 PMID:19763152 PMID:20052722 PMID:20307669 PMID:20400963 PMID:20400964 PMID:20428093 PMID:20697805 PMID:20723205 PMID:20952512 PMID:21447597 PMID:21537932 PMID:21597919 PMID:21616938 PMID:21750962 PMID:21980511 PMID:21990120 PMID:22006311 PMID:22167183 PMID:22370629 PMID:22406018 PMID:22451500 PMID:22476429 PMID:22538716 PMID:22725699 PMID:23117857 PMID:23176254 PMID:23438602 PMID:23500037 PMID:23704328 PMID:24082139 PMID:24139550 PMID:24141787 PMID:24141797 PMID:24240112 PMID:24315737 PMID:24359560 PMID:24504028 PMID:24549055 PMID:24631219 PMID:24763404 PMID:24800917 PMID:24993905 PMID:24998779 PMID:25085752 PMID:25086635 PMID:25154786 PMID:25186627 PMID:25292178 PMID:25318351 PMID:25338684 PMID:25452441 PMID:25470109 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25833843 PMID:25980754 PMID:26057125 PMID:26261251 PMID:26270727 PMID:26354865 PMID:26406419 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26691941 PMID:26720728 PMID:26740214 PMID:26822949 PMID:26824983 PMID:26845104 PMID:26848151 PMID:26911350 PMID:26976419 PMID:27037238 PMID:27149507 PMID:27149842 PMID:27153395 PMID:27230542 PMID:27328445 PMID:27433846 PMID:27443514 PMID:27498913 PMID:27616075 PMID:27621404 PMID:27622768 PMID:27852271 PMID:27878467 PMID:27908594 PMID:27913932 PMID:27978560 PMID:28123851 PMID:28125075 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28281021 PMID:28492532 PMID:28528518 PMID:28588062 PMID:28678401 PMID:28709830 PMID:28726808 PMID:28767289 PMID:28802053 PMID:28829762 PMID:28864920 PMID:28873162 PMID:28888541 PMID:28905878 PMID:28975465 PMID:29020732 PMID:29053726 PMID:29054568 PMID:29158291 PMID:29255180 PMID:29263802 PMID:29278735 PMID:29360161 PMID:29409816 PMID:29416752 PMID:29458332 PMID:29470806 PMID:29484706 PMID:29522266 PMID:29566657 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29752822 PMID:29758562 PMID:29785153 PMID:29858219 PMID:29922827 PMID:29978187 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30130155 PMID:30216591 PMID:30256826 PMID:30257646 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30374176 PMID:30426508 PMID:30515680 PMID:30551670 PMID:30613976 PMID:30680046 PMID:30847381 PMID:30875412 PMID:30924587 PMID:30927251 PMID:30949688 PMID:30982232 PMID:30995915 PMID:31078974 PMID:31125277 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31300551 PMID:31422574 PMID:31446535 PMID:31567591 PMID:31642931 PMID:31742824 PMID:31782267 PMID:31784482 PMID:31815095 PMID:31843900 PMID:31874108 PMID:31882575 PMID:31921681 PMID:32054657 PMID:32068069 PMID:32107557 PMID:32242007 PMID:32295079 PMID:32295625 PMID:32338768 PMID:32359370 PMID:32427313 PMID:32566746 PMID:32606146 PMID:32658311 PMID:32659497 PMID:32809180 PMID:32832836 PMID:32854451 PMID:32866190 PMID:32868316 PMID:32885271 PMID:32957588 PMID:32980694 PMID:32986223 PMID:33008098 PMID:33011440 PMID:33042626 PMID:33047316 PMID:33077847 PMID:33134171 PMID:33194656 PMID:33219106 PMID:33258288 PMID:33277227 PMID:33309985 PMID:33326660 PMID:33333735 PMID:33359728 PMID:33471991 PMID:33552952 PMID:33563768 PMID:33606809 PMID:33646313 PMID:33832919 PMID:33858678 PMID:34284872 PMID:34299313 PMID:34326862 PMID:34426522 PMID:34570411 PMID:34570441 PMID:34606182 PMID:34761457 PMID:34923718 PMID:35014770 PMID:35039523 PMID:35039564 PMID:35127508 PMID:35171259 PMID:35186721 PMID:35261632 PMID:35264596 PMID:35451682 PMID:35534704 PMID:35565380 PMID:35658948 PMID:35734982 PMID:35740625 PMID:35806449 PMID:35957908 PMID:35980532 PMID:36099300 PMID:36200007 PMID:36243179 PMID:36293153 PMID:36329109 PMID:36368728 PMID:36562461 PMID:36909564 PMID:36974006 PMID:36977404 PMID:36988593 PMID:37065479 PMID:37253112 PMID:37298034 PMID:37344589 PMID:37444530 PMID:37450374 PMID:37488098 PMID:37563628 PMID:37762649 PMID:37843130 PMID:38003901 PMID:38136308 PMID:38153744 PMID:38330859 PMID:38355628 PMID:38874686 PMID:39299233 More...
|
|
NCBI chrNW_004936490:4,440,638...4,473,301
Ensembl chrNW_004936490:4,439,097...4,473,357
|
|
|
|
| G
|
Slx4
|
SLX4 structure-specific endonuclease subunit
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group P
|
OMIM
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21240275 PMID:21240277 PMID:21805310 PMID:22383991 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:23994477 PMID:24763404 PMID:25288723 PMID:25326635 PMID:25741868 PMID:26201965 PMID:26824983 PMID:27153395 PMID:28125078 PMID:28202063 PMID:28492532 PMID:28678401 PMID:29146900 PMID:29344583 PMID:29607586 PMID:29641532 PMID:29868112 PMID:29891941 PMID:29915322 PMID:30268473 PMID:30306255 PMID:30613976 PMID:30995915 PMID:31300551 PMID:31469826 PMID:31921681 PMID:32368696 PMID:32546565 PMID:33270637 PMID:33558524 PMID:33606809 PMID:36041235 PMID:36463940 PMID:36622392 PMID:36627197 PMID:36916425 PMID:38349998 More...
|
|
NCBI chrNW_004936694:720,585...744,477
Ensembl chrNW_004936694:722,481...744,600
|
|
|
|
| G
|
Ercc4
|
ERCC excision repair 4, endonuclease catalytic subunit
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group Q
|
OMIM
ClinVar |
PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 PMID:15886521 PMID:16550608 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23623386 PMID:23623389 PMID:24027083 PMID:24033266 PMID:24465539 PMID:24728327 PMID:25741868 PMID:26074087 PMID:26136524 PMID:26453996 PMID:26884178 PMID:27356891 PMID:27528516 PMID:28292785 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29325523 PMID:29403087 PMID:29625052 PMID:29892709 PMID:30165384 PMID:30658521 PMID:31692161 PMID:32008151 PMID:32191290 PMID:32487094 PMID:32659497 PMID:32756499 PMID:34117267 PMID:35171259 More...
|
|
NCBI chrNW_004936501:2,301,072...2,329,346
Ensembl chrNW_004936501:2,300,835...2,329,351
|
|
|
|
| G
|
Rad51
|
RAD51 recombinase
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group R
|
ClinVar
OMIM |
PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 |
|
NCBI chrNW_004936471:4,119,020...4,136,811
Ensembl chrNW_004936471:4,114,530...4,136,248
|
|
|
|
| G
|
Brca1
|
BRCA1 DNA repair associated
|
|
ISO
|
ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S
|
ClinVar
OMIM |
PMID:1157798 PMID:1514655 PMID:2173504 PMID:2316185 PMID:2504116 PMID:2618727 PMID:3347199 PMID:7493024 PMID:7545954 PMID:7611277 PMID:7627958 PMID:7663517 PMID:7837387 PMID:7894491 PMID:7894492 PMID:7894493 PMID:8531967 PMID:8531968 PMID:8533757 PMID:8554067 PMID:8571953 PMID:8595420 PMID:8595428 PMID:8606385 PMID:8644702 PMID:8644703 PMID:8723683 PMID:8807330 PMID:8833256 PMID:8841191 PMID:8990217 PMID:9042909 PMID:9063749 PMID:9145676 PMID:9150149 PMID:9150153 PMID:9150154 PMID:9159158 PMID:9333265 PMID:9452076 PMID:9482581 PMID:9544766 PMID:9625424 PMID:9634504 PMID:9663595 PMID:9667259 PMID:9760198 PMID:9792861 PMID:9805131 PMID:9836472 PMID:10090881 PMID:10196379 PMID:10227398 PMID:10359546 PMID:10422801 PMID:10447273 PMID:10464624 PMID:10464631 PMID:10480351 PMID:10486320 PMID:10508480 PMID:10550055 PMID:10615237 PMID:10644434 PMID:10682662 PMID:10739756 PMID:10788334 PMID:10811118 PMID:10815905 PMID:10866029 PMID:10882858 PMID:10885601 PMID:10923033 PMID:10952777 PMID:10984458 PMID:11059339 PMID:11102986 PMID:11106241 PMID:11157798 PMID:11179017 PMID:11240689 PMID:11250694 PMID:11251181 PMID:11320250 PMID:11336395 PMID:11385711 PMID:11389159 PMID:11391658 PMID:11400546 PMID:11410501 PMID:11466700 PMID:11504767 PMID:11597388 PMID:11606101 PMID:11668617 PMID:11698567 PMID:11748305 PMID:11773283 PMID:11802208 PMID:11802209 PMID:11877378 PMID:11896095 PMID:11956590 PMID:12014998 PMID:12048272 PMID:12068003 PMID:12097257 PMID:12112659 PMID:12125210 PMID:12161611 PMID:12181777 PMID:12354934 PMID:12393792 PMID:12402332 PMID:12402341 PMID:12427538 PMID:12427738 PMID:12491487 PMID:12491499 PMID:12496476 PMID:12496477 PMID:12531920 PMID:12566964 PMID:12599199 PMID:12655560 PMID:12698193 PMID:12752644 PMID:12771565 PMID:12774040 PMID:12827452 PMID:12955716 PMID:14517958 PMID:14531499 PMID:14534301 PMID:14555511 PMID:14576434 PMID:14729053 PMID:14760071 PMID:14973102 PMID:14986830 PMID:15001988 PMID:15004537 PMID:15024741 PMID:15117986 PMID:15133502 PMID:15133503 PMID:15145354 PMID:15146557 PMID:15172985 PMID:15184261 PMID:15235020 PMID:15290653 PMID:15350310 PMID:15353005 PMID:15383404 PMID:15385441 PMID:15447980 PMID:15689452 PMID:15726418 PMID:15744030 PMID:15744044 PMID:15865297 PMID:15876480 PMID:15883839 PMID:15923272 PMID:15951956 PMID:15951958 PMID:15955237 PMID:15983021 PMID:15994883 PMID:16014699 PMID:16030099 PMID:16030426 PMID:16162645 PMID:16168118 PMID:16199547 PMID:16234499 PMID:16267036 PMID:16280041 PMID:16284991 PMID:16403807 PMID:16417652 PMID:16455195 PMID:16457150 PMID:16489001 PMID:16518693 PMID:16528604 PMID:16541315 PMID:16544996 PMID:16677609 PMID:16683254 PMID:16685647 PMID:16905680 PMID:16949048 PMID:16998791 PMID:17020472 PMID:17100994 PMID:17161371 PMID:17221156 PMID:17279547 PMID:17305420 PMID:17307836 PMID:17308087 PMID:17341484 PMID:17369502 PMID:17403394 PMID:17453335 PMID:17574969 PMID:17585057 PMID:17591843 PMID:17645508 PMID:17686308 PMID:17688236 PMID:17922257 PMID:17924331 PMID:17925560 PMID:18036263 PMID:18159056 PMID:18273839 PMID:18279628 PMID:18284688 PMID:18285836 PMID:18334730 PMID:18375895 PMID:18413725 PMID:18424508 PMID:18431501 PMID:18431737 PMID:18465347 PMID:18512148 PMID:18627636 PMID:18680205 PMID:18694767 PMID:18762988 PMID:18763032 PMID:18779604 PMID:18783588 PMID:18821011 PMID:18824701 PMID:18936166 PMID:18940477 PMID:18992264 PMID:19016756 PMID:19123044 PMID:19200354 PMID:19208665 PMID:19241424 PMID:19329713 PMID:19340607 PMID:19359128 PMID:19369211 PMID:19404736 PMID:19452558 PMID:19471317 PMID:19491284 PMID:19499246 PMID:19563646 PMID:19656415 PMID:19661094 PMID:19863560 PMID:19941162 PMID:19949876 PMID:20103620 PMID:20104584 PMID:20167696 PMID:20189727 PMID:20215541 PMID:20301425 PMID:20345474 PMID:20373018 PMID:20378548 PMID:20455026 PMID:20507347 PMID:20516115 PMID:20522429 PMID:20569256 PMID:20665887 PMID:20694749 PMID:20727220 PMID:20727672 PMID:20730485 PMID:20807450 PMID:20858050 PMID:20950396 PMID:21119707 PMID:21120943 PMID:21147080 PMID:21170264 PMID:21203900 PMID:21218378 PMID:21232165 PMID:21309043 PMID:21324516 PMID:21348412 PMID:21356067 PMID:21371001 PMID:21447777 PMID:21473589 PMID:21503673 PMID:21520273 PMID:21520333 PMID:21523855 PMID:21553119 PMID:21559243 PMID:21643751 PMID:21673748 PMID:21702907 PMID:21708019 PMID:21709188 PMID:21725363 PMID:21735045 PMID:21834074 PMID:21918853 PMID:21946536 PMID:21965345 PMID:21989022 PMID:21989927 PMID:21990134 PMID:21993507 PMID:22006311 PMID:22009639 PMID:22010008 PMID:22032251 PMID:22034289 PMID:22116506 PMID:22136207 PMID:22144684 PMID:22160602 PMID:22185575 PMID:22217648 PMID:22366370 PMID:22401979 PMID:22430266 PMID:22476429 PMID:22505045 PMID:22516946 PMID:22535016 PMID:22615956 PMID:22666503 PMID:22703879 PMID:22711857 PMID:22752604 PMID:22753008 PMID:22753153 PMID:22762150 PMID:22776961 PMID:22798144 PMID:22811390 PMID:22843421 PMID:22889855 PMID:22927308 PMID:22970155 PMID:23110154 PMID:23161852 PMID:23164213 PMID:23175448 PMID:23192404 PMID:23199084 PMID:23231788 PMID:23232912 PMID:23233716 PMID:23239986 PMID:23249957 PMID:23269703 PMID:23289006 PMID:23341105 PMID:23451180 PMID:23458327 PMID:23469205 PMID:23479189 PMID:23536787 PMID:23555315 PMID:23569316 PMID:23569533 PMID:23580280 PMID:23613828 PMID:23633455 PMID:23683081 PMID:23704879 PMID:23704984 PMID:23725378 PMID:23747895 PMID:23867111 PMID:23893897 PMID:23954390 PMID:23961350 PMID:24010542 PMID:24033266 PMID:24055113 PMID:24131973 PMID:24137399 PMID:24218521 PMID:24240112 PMID:24249303 PMID:24285858 PMID:24307375 PMID:24312913 PMID:24319668 PMID:24321281 PMID:24333842 PMID:24372583 PMID:24448499 PMID:24489791 PMID:24504028 PMID:24549055 PMID:24569164 PMID:24578176 PMID:24607278 PMID:24667779 PMID:24695549 PMID:24728189 PMID:24728327 PMID:24737347 PMID:24784157 PMID:24825132 PMID:24845084 PMID:24884479 PMID:24916970 PMID:24961674 PMID:25011685 PMID:25041116 PMID:25066507 PMID:25085752 PMID:25085762 PMID:25136594 PMID:25141179 PMID:25186627 PMID:25256238 PMID:25330149 PMID:25337278 PMID:25348012 PMID:25371446 PMID:25400221 PMID:25418591 PMID:25426409 PMID:25428789 PMID:25452441 PMID:25472942 PMID:25525159 PMID:25556971 PMID:25628955 PMID:25637381 PMID:25652403 PMID:25682074 PMID:25716084 PMID:25741868 PMID:25748678 PMID:25782689 PMID:25823446 PMID:25863477 PMID:25880076 PMID:25884701 PMID:25925381 PMID:25948282 PMID:25971625 PMID:25980754 PMID:26010302 PMID:26023681 PMID:26026974 PMID:26028024 PMID:26083025 PMID:26187060 PMID:26207792 PMID:26219728 PMID:26236408 PMID:26246475 PMID:26287763 PMID:26295337 PMID:26296701 PMID:26332594 PMID:26350514 PMID:26402875 PMID:26430151 PMID:26440929 PMID:26467025 PMID:26530882 PMID:26535628 PMID:26543556 PMID:26556299 PMID:26580448 PMID:26666763 PMID:26681312 PMID:26689913 PMID:26718727 PMID:26727311 PMID:26777316 PMID:26786923 PMID:26843898 PMID:26845104 PMID:26848529 PMID:26852015 PMID:26852130 PMID:26884819 PMID:26911350 PMID:26913838 PMID:26933808 PMID:27062684 PMID:27067391 PMID:27081505 PMID:27083775 PMID:27124784 PMID:27153395 PMID:27211102 PMID:27257965 PMID:27272900 PMID:27300552 PMID:27376475 PMID:27383479 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27478808 PMID:27488874 PMID:27495310 PMID:27533253 PMID:27553291 PMID:27616075 PMID:27658390 PMID:27741520 PMID:27760710 PMID:27802165 PMID:27836010 PMID:27882536 PMID:27886673 PMID:27907908 PMID:27914478 PMID:27989354 PMID:27997699 PMID:28024868 PMID:28049106 PMID:28091860 PMID:28111427 PMID:28122244 PMID:28127413 PMID:28145423 PMID:28152038 PMID:28176296 PMID:28222693 PMID:28231738 PMID:28265380 PMID:28281021 PMID:28283652 PMID:28285342 PMID:28288110 PMID:28301456 PMID:28324225 PMID:28339459 PMID:28351343 PMID:28364669 PMID:28398198 PMID:28422718 PMID:28423363 PMID:28477318 PMID:28490613 PMID:28492532 PMID:28503720 PMID:28525389 PMID:28528518 PMID:28529006 PMID:28569743 PMID:28664506 PMID:28692638 PMID:28724667 PMID:28726806 PMID:28781887 PMID:28831036 PMID:28873162 PMID:28888541 PMID:28961279 PMID:28985766 PMID:28993434 PMID:29020732 PMID:29021639 PMID:29053726 PMID:29061375 PMID:29088781 PMID:29116469 PMID:29133208 PMID:29152070 PMID:29161300 PMID:29168416 PMID:29176636 PMID:29215753 PMID:29215764 PMID:29240602 PMID:29263802 PMID:29271107 PMID:29280214 PMID:29297111 PMID:29310832 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29433453 PMID:29435075 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29486991 PMID:29492181 PMID:29622700 PMID:29625052 PMID:29667044 PMID:29681614 PMID:29684080 PMID:29687286 PMID:29712865 PMID:29752822 PMID:29755871 PMID:29758562 PMID:29760936 PMID:29770616 PMID:29790872 PMID:29805665 PMID:29884841 PMID:29901183 PMID:29907814 PMID:29922827 PMID:29928469 PMID:29936259 PMID:29961768 PMID:30014164 PMID:30040829 PMID:30055521 PMID:30067863 PMID:30078507 PMID:30093976 PMID:30103829 PMID:30111351 PMID:30113427 PMID:30152102 PMID:30159786 PMID:30186769 PMID:30191368 PMID:30203341 PMID:30209399 PMID:30212499 PMID:30219179 PMID:30254663 PMID:30257991 PMID:30263092 PMID:30263132 PMID:30274973 PMID:30287823 PMID:30309222 PMID:30322717 PMID:30333958 PMID:30350268 PMID:30400234 PMID:30415210 PMID:30458859 PMID:30472649 PMID:30480775 PMID:30489631 PMID:30548481 PMID:30551077 PMID:30555256 PMID:30606148 PMID:30613976 PMID:30630528 PMID:30646163 PMID:30651582 PMID:30675319 PMID:30676620 PMID:30678073 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30765603 PMID:30787465 PMID:30825404 PMID:30827823 PMID:30840646 PMID:30875412 PMID:30962250 PMID:30972954 PMID:30975216 PMID:30982232 PMID:31065452 PMID:31090900 PMID:31112341 PMID:31131967 PMID:31159747 PMID:31209999 PMID:31214711 PMID:31248605 PMID:31263571 PMID:31294896 PMID:31325073 PMID:31336956 PMID:31341520 PMID:31343793 PMID:31347298 PMID:31360874 PMID:31360904 PMID:31372034 PMID:31407530 PMID:31409081 PMID:31447099 PMID:31454914 PMID:31472684 PMID:31477031 PMID:31492746 PMID:31528241 PMID:31565484 PMID:31616044 PMID:31639439 PMID:31690835 PMID:31742824 PMID:31771539 PMID:31794323 PMID:31815095 PMID:31825140 PMID:31843900 PMID:31850619 PMID:31851867 PMID:31853058 PMID:31871297 PMID:31907386 PMID:31911673 PMID:31917386 PMID:31921681 PMID:31954625 PMID:31957001 PMID:31992191 PMID:32019279 PMID:32029870 PMID:32039725 PMID:32058061 PMID:32073954 PMID:32123317 PMID:32152249 PMID:32203205 PMID:32295079 PMID:32338768 PMID:32341426 PMID:32371905 PMID:32375709 PMID:32380732 PMID:32438681 PMID:32467295 PMID:32486089 PMID:32504368 PMID:32531196 PMID:32546644 PMID:32548945 PMID:32614418 PMID:32623769 PMID:32699032 PMID:32710294 PMID:32719484 PMID:32733560 PMID:32772980 PMID:32782288 PMID:32803532 PMID:32832836 PMID:32843487 PMID:32854451 PMID:32856869 PMID:32868804 PMID:32885271 PMID:32906206 PMID:32980694 PMID:33047316 PMID:33067490 PMID:33087888 PMID:33087929 PMID:33098347 PMID:33151324 PMID:33273034 PMID:33309985 PMID:33314633 PMID:33413596 PMID:33442023 PMID:33449224 PMID:33468216 PMID:33471991 PMID:33477375 PMID:33478551 PMID:33484353 PMID:33606809 PMID:33646313 PMID:33654310 PMID:33670479 PMID:33691754 PMID:33758026 PMID:33773534 PMID:33850299 PMID:33948387 PMID:34063308 PMID:34072659 PMID:34271787 PMID:34287479 PMID:34290354 PMID:34308104 PMID:34326862 PMID:34413315 PMID:34449592 PMID:34597585 PMID:34645131 PMID:34646395 PMID:34657373 PMID:34663891 PMID:34749799 PMID:34793697 PMID:34981296 PMID:35039564 PMID:35116780 PMID:35171259 PMID:35196514 PMID:35216584 PMID:35220195 PMID:35264596 PMID:35313928 PMID:35377489 PMID:35402282 PMID:35409996 PMID:35456503 PMID:35464868 PMID:35578052 PMID:35625946 PMID:35626017 PMID:35659930 PMID:35833951 PMID:35918668 PMID:36003761 PMID:36119527 PMID:36169650 PMID:36171434 PMID:36171877 PMID:36243179 PMID:36292577 PMID:36329109 PMID:36367610 PMID:36446827 PMID:36451132 PMID:36537080 PMID:36612302 PMID:36753473 PMID:36881271 PMID:36927983 PMID:36964191 PMID:36974006 PMID:36988593 PMID:37085799 PMID:37335020 PMID:37563628 PMID:37718511 PMID:37719058 PMID:37851290 PMID:37970354 PMID:38146508 PMID:38386807 PMID:38641594 PMID:38645101 PMID:38785549 PMID:38922859 PMID:39142283 PMID:39488595 More...
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NCBI chrNW_004936490:17,735,444...17,801,456
Ensembl chrNW_004936490:17,735,516...17,801,454
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| G
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LOC101957075
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protein HIRA
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ISO
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ClinVar Annotator: match by term: Fanconi anemia complementation group T
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936619:3,282,170...3,380,151
Ensembl chrNW_004936619:3,282,173...3,380,151
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| G
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Ube2t
|
ubiquitin conjugating enzyme E2 T
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ISO
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ClinVar Annotator: match by term: Fanconi anemia complementation group T
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OMIM
ClinVar |
PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532 |
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NCBI chrNW_004936567:2,222,317...2,226,725
Ensembl chrNW_004936567:2,222,317...2,226,678
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|
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| G
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Xrcc2
|
X-ray repair cross complementing 2
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group U
|
OMIM
ClinVar |
PMID:11118202 PMID:16169065 PMID:19690184 PMID:21240073 PMID:22232082 PMID:22464251 PMID:23054243 PMID:23383274 PMID:25637381 PMID:25741868 PMID:25918678 PMID:26046366 PMID:26467025 PMID:26689913 PMID:26787654 PMID:26845104 PMID:27208205 PMID:27233470 PMID:28486781 PMID:28492532 PMID:28724667 PMID:28767289 PMID:28779002 PMID:28864920 PMID:28912153 PMID:30306255 PMID:31159747 PMID:31911633 PMID:32832836 PMID:32860008 PMID:33471991 PMID:35171259 More...
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NCBI chrNW_004936527:7,760,609...7,785,360
Ensembl chrNW_004936527:7,760,719...7,785,391
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|
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| G
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Mad2l2
|
mitotic arrest deficient 2 like 2
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ISO
|
ClinVar Annotator: match by term: Fanconi anemia complementation group V | ClinVar Annotator: match by term: MAD2L2-related condition
|
OMIM
ClinVar |
PMID:25741868 PMID:27500492 PMID:28492532 |
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NCBI chrNW_004936474:538,703...542,901
Ensembl chrNW_004936474:538,625...542,901
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|
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| G
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Rfwd3
|
ring finger and WD repeat domain 3
|
|
ISO
|
ClinVar Annotator: match by term: Fanconi anemia, complementation group W | ClinVar Annotator: match by term: RFWD3-related condition
|
OMIM
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26474068 PMID:28492532 PMID:28691929 PMID:33044890 More...
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NCBI chrNW_004936475:23,544,974...23,586,716
Ensembl chrNW_004936475:23,544,953...23,586,740
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|
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| G
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Slx1a
|
structure-specific endonuclease subunit SLX1A
|
|
ISO
|
OMIM:227850
|
MouseDO |
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|
NCBI chrNW_004936501:12,332,135...12,335,081
Ensembl chrNW_004936501:12,331,624...12,334,920
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| G
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Slx4
|
SLX4 structure-specific endonuclease subunit
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ISO
|
OMIM:227850
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MouseDO |
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NCBI chrNW_004936694:720,585...744,477
Ensembl chrNW_004936694:722,481...744,600
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|
|
| G
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G6pd
|
glucose-6-phosphate dehydrogenase
|
|
ISO
|
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES
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ClinVar |
PMID:5448 PMID:16832 PMID:472761 PMID:511159 PMID:736032 PMID:835572 PMID:848857 PMID:853376 PMID:1008056 PMID:1270075 PMID:1303173 PMID:1303182 PMID:1459579 PMID:1536798 PMID:1551674 PMID:1562739 PMID:1611091 PMID:1631957 PMID:1805484 PMID:1879833 PMID:1924316 PMID:1953767 PMID:1972698 PMID:1978554 PMID:1978555 PMID:1999339 PMID:1999409 PMID:2157298 PMID:2190319 PMID:2222408 PMID:2253938 PMID:2255919 PMID:2263506 PMID:2307454 PMID:2321910 PMID:2393028 PMID:2503817 PMID:2572288 PMID:2602358 PMID:2606066 PMID:2633878 PMID:2836867 PMID:2849540 PMID:2895981 PMID:2912069 PMID:2912886 PMID:3198117 PMID:3201886 PMID:3338798 PMID:3393536 PMID:3446582 PMID:3565372 PMID:3591235 PMID:3740052 PMID:4154774 PMID:4283789 PMID:4359638 PMID:4379606 PMID:4388132 PMID:4392654 PMID:4435794 PMID:4721339 PMID:4837298 PMID:4838696 PMID:4974311 PMID:5081671 PMID:5305539 PMID:5316621 PMID:5369703 PMID:5413384 PMID:5485383 PMID:5641629 PMID:5673160 PMID:5770172 PMID:5775246 PMID:5779160 PMID:5844610 PMID:6015571 PMID:6344088 PMID:6500558 PMID:6698555 PMID:6714978 PMID:6714986 PMID:6805883 PMID:7055648 PMID:7129446 PMID:7160841 PMID:7203486 PMID:7211845 PMID:7327562 PMID:7390473 PMID:7440223 PMID:7577654 PMID:7590755 PMID:7655862 PMID:7789945 PMID:7803800 PMID:7806085 PMID:7825590 PMID:7849299 PMID:7858267 PMID:7870632 PMID:7947239 PMID:7947250 PMID:7949118 PMID:7959686 PMID:7959695 PMID:8118045 PMID:8141125 PMID:8193373 PMID:8241497 PMID:8244337 PMID:8364584 PMID:8370579 PMID:8436389 PMID:8447319 PMID:8471773 PMID:8477268 PMID:8490627 PMID:8533762 PMID:8537082 PMID:8611726 PMID:8807085 PMID:8807321 PMID:8807322 PMID:8813094 PMID:8956035 PMID:9017974 PMID:9192788 PMID:9233561 PMID:9250351 PMID:9290617 PMID:9298828 PMID:9299858 PMID:9332310 PMID:9342374 PMID:9384614 PMID:9410474 PMID:9444913 PMID:9536098 PMID:9589612 PMID:9674740 PMID:9858856 PMID:10192449 PMID:10221015 PMID:10502785 PMID:10556177 PMID:10571945 PMID:10643148 PMID:10666231 PMID:10734064 PMID:10772881 PMID:10782016 PMID:10916676 PMID:11024211 PMID:11042039 PMID:11112389 PMID:11146567 PMID:11243133 PMID:11261779 PMID:11271380 PMID:11295127 PMID:11400791 PMID:11445808 PMID:11484161 PMID:11499668 PMID:11594515 PMID:11780463 PMID:11793482 PMID:11852882 PMID:12028056 PMID:12064901 PMID:12064902 PMID:12064920 PMID:12105841 PMID:12130518 PMID:12187030 PMID:12215013 PMID:12367584 PMID:12497642 PMID:12737938 PMID:12737940 PMID:12768444 PMID:12850494 PMID:14014720 PMID:14278484 PMID:14505231 PMID:14757424 PMID:14757426 PMID:15065213 PMID:15223006 PMID:15315792 PMID:15349799 PMID:15466166 PMID:15502081 PMID:15625830 PMID:15727905 PMID:15766741 PMID:15858258 PMID:15906717 PMID:15914531 PMID:15996881 PMID:16079115 PMID:16088936 PMID:16119988 PMID:16136268 PMID:16143877 PMID:16155737 PMID:16193512 PMID:16329560 PMID:16356170 PMID:16461316 PMID:16513531 PMID:16528451 PMID:16607506 PMID:16753852 PMID:16777444 PMID:16927025 PMID:16934959 PMID:16944148 PMID:17018380 PMID:17176793 PMID:17233850 PMID:17524386 PMID:17576681 PMID:17587269 PMID:17611006 PMID:17726510 PMID:17877203 PMID:17959407 PMID:18043863 PMID:18046504 PMID:18056001 PMID:18066402 PMID:18086567 PMID:18177777 PMID:18226470 PMID:18270558 PMID:18329300 PMID:18452027 PMID:18568599 PMID:18677765 PMID:19224086 PMID:19422023 PMID:19465117 PMID:19589177 PMID:19594365 PMID:19632868 PMID:20007901 PMID:20052779 PMID:20085579 PMID:20200584 PMID:20203002 PMID:20236109 PMID:20582980 PMID:20602793 PMID:20621077 PMID:20713184 PMID:20949590 PMID:21063220 PMID:21153663 PMID:21302115 PMID:21397531 PMID:21441392 PMID:21446359 PMID:21479984 PMID:21507207 PMID:21637675 PMID:21677401 PMID:21874587 PMID:21931771 PMID:21989994 PMID:22018328 PMID:22139979 PMID:22164279 PMID:22165289 PMID:22171972 PMID:22237549 PMID:22293322 PMID:22307442 PMID:22452742 PMID:22552160 PMID:22770933 PMID:22906047 PMID:22906837 PMID:22963789 PMID:22963798 PMID:23006493 PMID:23057857 PMID:23144702 PMID:23365477 PMID:23389243 PMID:23479361 PMID:23757202 PMID:23926329 PMID:23965028 PMID:24022758 PMID:24033266 PMID:24117340 PMID:24134566 PMID:24460025 PMID:24505519 PMID:24551785 PMID:24586352 PMID:24711023 PMID:24787449 PMID:25071003 PMID:25141282 PMID:25189226 PMID:25201310 PMID:25326637 PMID:25407525 PMID:25440321 PMID:25536053 PMID:25541721 PMID:25548459 PMID:25741868 PMID:25775246 PMID:25925739 PMID:26060661 PMID:26226515 PMID:26275698 PMID:26479991 PMID:26633385 PMID:26693676 PMID:26823837 PMID:26827633 PMID:26829728 PMID:26990548 PMID:27040960 PMID:27053284 PMID:27213370 PMID:27282571 PMID:27287612 PMID:27408423 PMID:27458052 PMID:27495838 PMID:27519946 PMID:27535533 PMID:27853304 PMID:27880809 PMID:27884173 PMID:27914961 PMID:27941691 PMID:27980749 PMID:28028996 PMID:28059001 PMID:28170391 PMID:28195434 PMID:28356147 PMID:28492532 PMID:28512736 PMID:28583873 PMID:28756180 PMID:28824188 PMID:28852037 PMID:29072585 PMID:29138396 PMID:29141760 PMID:29248304 PMID:29300386 PMID:29333274 PMID:29339739 PMID:29396846 PMID:30045279 PMID:30077011 PMID:30096395 PMID:30097005 PMID:30161219 PMID:30314477 PMID:30315739 PMID:30674319 PMID:30988594 PMID:31294066 PMID:31489982 PMID:31525211 PMID:31590661 PMID:31602632 PMID:31609781 PMID:31833391 PMID:31862010 PMID:31863082 PMID:32156605 PMID:32180910 PMID:32387441 PMID:32387609 PMID:32425388 PMID:32641076 PMID:32680472 PMID:32702756 PMID:32860008 PMID:32987391 PMID:33051526 PMID:33069889 PMID:33072997 PMID:33100726 PMID:33128437 PMID:33413378 PMID:33536406 PMID:33628497 PMID:33636823 PMID:33637102 PMID:33708821 PMID:34007417 PMID:34134107 PMID:34272389 PMID:34532700 PMID:34551338 PMID:34620237 PMID:34643346 PMID:34659341 PMID:34762759 PMID:34773909 PMID:34895177 PMID:34934109 PMID:34966093 PMID:34989400 PMID:35065072 PMID:35247950 PMID:35313968 PMID:35384376 PMID:35606495 PMID:35695473 PMID:35753512 PMID:35840819 PMID:35845714 PMID:36089067 PMID:36150187 PMID:36212124 PMID:36212142 PMID:36315991 PMID:36353116 PMID:36681081 PMID:36703223 PMID:36704359 PMID:36949502 PMID:37415281 PMID:38066190 PMID:38308253 PMID:38645242 PMID:38970298 More...
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NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
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| G
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Ikbkg
|
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
|
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ISO
|
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: G6PD A-
|
ClinVar |
PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 PMID:8471773 PMID:9384614 PMID:9536098 PMID:9589612 PMID:10480214 PMID:10502785 PMID:10627140 PMID:11379875 PMID:11601226 PMID:11748843 PMID:11968085 PMID:12064920 PMID:15727905 PMID:16329560 PMID:16427346 PMID:16601897 PMID:16607506 PMID:17576681 PMID:18046504 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19589177 PMID:19732863 PMID:19846429 PMID:21446359 PMID:21931168 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:25741868 PMID:28492532 PMID:29300386 PMID:29339739 PMID:30045279 PMID:30315739 PMID:31489982 PMID:31862010 PMID:31863082 PMID:33051526 PMID:33072997 PMID:34620237 PMID:34659341 PMID:34762759 PMID:34895177 PMID:34989400 PMID:35313968 PMID:35384376 PMID:35840819 PMID:36212142 PMID:36353116 PMID:37272928 PMID:38592584 More...
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NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813
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|
|
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| G
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Slc19a1
|
solute carrier family 19 member 1
|
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ISO
|
ClinVar Annotator: match by term: SLC19A1-related condition
|
OMIM
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936778:823,376...846,843
Ensembl chrNW_004936778:829,550...848,833
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|
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| G
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Dhfr
|
dihydrofolate reductase
|
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21310277 |
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NCBI chrNW_004936469:67,962...83,116
Ensembl chrNW_004936469:61,990...83,553
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| G
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Igf1
|
insulin like growth factor 1
|
|
ISO
|
protein:decreased expression:serum, cranial bone (rat)
|
RGD |
PMID:16111879 |
RGD:12910463 |
NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351
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|
|
| G
|
Tbxas1
|
thromboxane A synthase 1
|
|
ISO
|
ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome | ClinVar Annotator: match by term: TBXAS1-related condition
|
OMIM
ClinVar |
PMID:8702713 PMID:17203301 PMID:18264100 PMID:19114962 PMID:22735388 PMID:25741868 PMID:27156553 PMID:28492532 PMID:28748566 PMID:29068549 PMID:32935436 PMID:33185009 PMID:33244729 PMID:33595912 PMID:35395429 PMID:36574346 More...
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NCBI chrNW_004936592:4,038,163...4,192,772
Ensembl chrNW_004936592:4,038,074...4,192,808
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|
|
|
| G
|
G6pd
|
glucose-6-phosphate dehydrogenase
|
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ISO
|
ClinVar Annotator: match by term: G6PD WALTER REED | ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency
|
ClinVar |
PMID:5448 PMID:16832 PMID:472761 PMID:736032 PMID:848857 PMID:853376 PMID:1303173 PMID:1303182 PMID:1459579 PMID:1536798 PMID:1551674 PMID:1562739 PMID:1611091 PMID:1631957 PMID:1805484 PMID:1879833 PMID:1924316 PMID:1953767 PMID:1972698 PMID:1978554 PMID:1978555 PMID:1999339 PMID:1999409 PMID:2157298 PMID:2190319 PMID:2222408 PMID:2253938 PMID:2255919 PMID:2263506 PMID:2307454 PMID:2321910 PMID:2393028 PMID:2503817 PMID:2572288 PMID:2602358 PMID:2633878 PMID:2836867 PMID:2849540 PMID:2895981 PMID:2912069 PMID:3198117 PMID:3201886 PMID:3338798 PMID:3393536 PMID:3446582 PMID:3740052 PMID:4154774 PMID:4283789 PMID:4359638 PMID:4379606 PMID:4388132 PMID:4392654 PMID:4435794 PMID:4721339 PMID:4837298 PMID:4974311 PMID:5081671 PMID:5305539 PMID:5316621 PMID:5369703 PMID:5413384 PMID:5485383 PMID:5641629 PMID:5673160 PMID:5770172 PMID:5844610 PMID:6015571 PMID:6344088 PMID:6698555 PMID:6714978 PMID:6714986 PMID:7055648 PMID:7129446 PMID:7160841 PMID:7203486 PMID:7211845 PMID:7327562 PMID:7390473 PMID:7440223 PMID:7577654 PMID:7590755 PMID:7655862 PMID:7789945 PMID:7803800 PMID:7806085 PMID:7825590 PMID:7858267 PMID:7947239 PMID:7947250 PMID:7949118 PMID:7959686 PMID:8118045 PMID:8193373 PMID:8244337 PMID:8364584 PMID:8370579 PMID:8447319 PMID:8471773 PMID:8490627 PMID:8533762 PMID:8537082 PMID:8611726 PMID:8807321 PMID:8807322 PMID:8956035 PMID:9017974 PMID:9192788 PMID:9233561 PMID:9250351 PMID:9299858 PMID:9342374 PMID:9410474 PMID:9444913 PMID:9536098 PMID:9589612 PMID:9674740 PMID:9858856 PMID:10192449 PMID:10221015 PMID:10502785 PMID:10571945 PMID:10643148 PMID:10666231 PMID:10734064 PMID:10782016 PMID:10916676 PMID:11024211 PMID:11042039 PMID:11112389 PMID:11146567 PMID:11243133 PMID:11295127 PMID:11400791 PMID:11445808 PMID:11499668 PMID:11793482 PMID:11852882 PMID:12028056 PMID:12064920 PMID:12105841 PMID:12187030 PMID:12215013 PMID:12367584 PMID:12497642 PMID:12737938 PMID:12768444 PMID:12850494 PMID:14014720 PMID:14278484 PMID:14505231 PMID:15065213 PMID:15223006 PMID:15315792 PMID:15349799 PMID:15466166 PMID:15502081 PMID:15625830 PMID:15727905 PMID:15766741 PMID:15906717 PMID:15914531 PMID:15996881 PMID:16088936 PMID:16119988 PMID:16136268 PMID:16143877 PMID:16155737 PMID:16193512 PMID:16329560 PMID:16356170 PMID:16461316 PMID:16513531 PMID:16528451 PMID:16607506 PMID:16777444 PMID:16927025 PMID:16934959 PMID:17018380 PMID:17233850 PMID:17524386 PMID:17576681 PMID:17587269 PMID:17726510 PMID:17959407 PMID:18043863 PMID:18046504 PMID:18056001 PMID:18177777 PMID:18226470 PMID:18270558 PMID:18329300 PMID:18452027 PMID:18568599 PMID:18677765 PMID:19224086 PMID:19465117 PMID:19589177 PMID:19594365 PMID:20007901 PMID:20200584 PMID:20203002 PMID:20236109 PMID:20582980 PMID:20602793 PMID:20621077 PMID:21153663 PMID:21302115 PMID:21441392 PMID:21446359 PMID:21479984 PMID:21507207 PMID:21637675 PMID:21677401 PMID:21874587 PMID:21931771 PMID:21989994 PMID:22018328 PMID:22164279 PMID:22165289 PMID:22171972 PMID:22237549 PMID:22293322 PMID:22307442 PMID:22452742 PMID:22552160 PMID:22770933 PMID:22906047 PMID:22906837 PMID:22963789 PMID:22963798 PMID:23006493 PMID:23057857 PMID:23144702 PMID:23365477 PMID:23479361 PMID:23757202 PMID:23926329 PMID:23965028 PMID:24033266 PMID:24117340 PMID:24134566 PMID:24460025 PMID:24505519 PMID:24551785 PMID:24586352 PMID:25071003 PMID:25141282 PMID:25201310 PMID:25326637 PMID:25407525 PMID:25440321 PMID:25536053 PMID:25541721 PMID:25548459 PMID:25741868 PMID:25775246 PMID:26060661 PMID:26226515 PMID:26633385 PMID:26823837 PMID:26829728 PMID:26990548 PMID:27040960 PMID:27053284 PMID:27213370 PMID:27287612 PMID:27495838 PMID:27519946 PMID:27535533 PMID:27853304 PMID:27880809 PMID:27884173 PMID:27980749 PMID:28028996 PMID:28170391 PMID:28195434 PMID:28492532 PMID:28512736 PMID:28583873 PMID:28756180 PMID:28852037 PMID:29072585 PMID:29141760 PMID:29248304 PMID:29300386 PMID:29333274 PMID:29339739 PMID:30045279 PMID:30077011 PMID:30096395 PMID:30097005 PMID:30161219 PMID:30314477 PMID:30315739 PMID:30674319 PMID:31294066 PMID:31489982 PMID:31525211 PMID:31590661 PMID:31602632 PMID:31609781 PMID:31833391 PMID:31862010 PMID:31863082 PMID:32180910 PMID:32387609 PMID:32425388 PMID:32641076 PMID:32680472 PMID:32702756 PMID:32860008 PMID:32987391 PMID:33051526 PMID:33069889 PMID:33072997 PMID:33100726 PMID:33128437 PMID:33413378 PMID:33628497 PMID:33636823 PMID:34134107 PMID:34532700 PMID:34620237 PMID:34643346 PMID:34659341 PMID:34934109 PMID:34966093 PMID:35065072 PMID:35247950 PMID:35606495 PMID:35753512 PMID:35840819 PMID:35845714 PMID:36150187 PMID:36212142 PMID:36315991 PMID:36681081 PMID:36703223 PMID:36949502 PMID:37415281 PMID:38645242 More...
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NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
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| G
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Ifng
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interferon gamma
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ISO
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DNA:SNP: :874A>T (human)
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RGD |
PMID:15718915 |
RGD:11049178 |
NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
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| G
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Il10
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interleukin 10
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no_association
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ISO
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DNA:SNP:promoter:-592A>C (human)
DNA:SNPs:promoter:-1082G>A, -819T>C (human)
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RGD |
PMID:15718915 |
RGD:11049178 |
NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
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| G
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Il6
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interleukin 6
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ISO
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DNA:SNP:promoter:-174G>C (human)
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RGD |
PMID:15718915 |
RGD:11049178 |
NCBI chrNW_004936549:7,015,595...7,016,246
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| G
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Slc4a1
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solute carrier family 4 member 1 (Diego blood group)
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ISO
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protein:increased phosphorylation:erythrocyte (human)
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RGD |
PMID:21246053 |
RGD:10450516 |
NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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| G
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Gpx1
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glutathione peroxidase 1
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ISO
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OMIM |
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NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
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| G
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Hagh
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hydroxyacylglutathione hydrolase
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ISO
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OMIM |
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NCBI chrNW_004936694:2,181,475...2,200,469
Ensembl chrNW_004936694:2,181,501...2,194,007
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| G
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Lbr
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lamin B receptor
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ISO
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ClinVar Annotator: match by term: Greenberg dysplasia | ClinVar Annotator: match by term: MOTH-EATEN SKELETAL DYSPLASIA
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OMIM
ClinVar |
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532 PMID:29590070 PMID:29758565 PMID:30448303 PMID:30518689 PMID:30561119 PMID:32827848 PMID:34567078 PMID:36307859 More...
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NCBI chrNW_004936526:2,254,463...2,282,785
Ensembl chrNW_004936526:2,254,449...2,282,785
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| G
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Gsr
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glutathione-disulfide reductase
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treatment
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ISO
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RGD |
PMID:20692194 |
RGD:11059501 |
NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
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|
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| G
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Hmox1
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heme oxygenase 1
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ISO
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ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency
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ClinVar
OMIM |
PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 PMID:26526137 PMID:27662012 PMID:28492532 PMID:32587840 PMID:33066778 More...
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NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
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| G
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Abo
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ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
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ISO
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RGD |
PMID:3136561 |
RGD:11100010 |
NCBI chrNW_004936570:1,315,192...1,322,719
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| G
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Ak1
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adenylate kinase 1
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ISO
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RGD |
PMID:10233365 |
RGD:1300279 |
NCBI chrNW_004936487:15,507,663...15,517,401
Ensembl chrNW_004936487:15,507,498...15,517,469
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| G
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Alas2
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5'-aminolevulinate synthase 2
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ISO
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mRNA:increased expression:liver (rat)
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RGD |
PMID:17082564 |
RGD:1599038 |
NCBI chrNW_004936751:1,818,255...1,841,028
Ensembl chrNW_004936751:1,814,446...1,841,531
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| G
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Ank1
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ankyrin 1
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ISO
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ClinVar Annotator: match by term: Hemolytic anemia
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381
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| G
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Col4a1
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collagen type IV alpha 1 chain
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:23225343 |
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NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814
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| G
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Eif2ak1
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eukaryotic translation initiation factor 2 alpha kinase 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:25411909 |
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NCBI chrNW_004936750:389,913...430,783
Ensembl chrNW_004936750:389,845...432,460
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| G
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Epb41
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erythrocyte membrane protein band 4.1
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ISO
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RGD |
PMID:9927493 |
RGD:11252099 |
NCBI chrNW_004936474:12,917,009...13,090,640
Ensembl chrNW_004936474:12,991,737...13,090,615
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| G
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Epo
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erythropoietin
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:10733367 PMID:16629641 PMID:20446436 |
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NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
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| G
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Fcgr2a
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Fc fragment of IgG receptor IIa
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ISO
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RGD |
PMID:15982355 |
RGD:11040945 |
NCBI chrNW_004937131:15,542...22,099
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| G
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G6pd
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glucose-6-phosphate dehydrogenase
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ISO
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ClinVar Annotator: match by term: Hemolytic anemia
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ClinVar |
PMID:12064901 PMID:25741868 PMID:29300386 |
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NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
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| G
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Gclc
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glutamate-cysteine ligase catalytic subunit
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ISO
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DNA:missense mutation:cds: 473C>T (p.158L)(human)
CTD Direct Evidence: marker/mechanism
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RGD
CTD |
PMID:10515893 PMID:10733484 |
RGD:11049537 |
NCBI chrNW_004936476:7,371,270...7,418,756
Ensembl chrNW_004936476:7,371,149...7,418,958
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| G
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Gpi
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glucose-6-phosphate isomerase
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ISO
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ClinVar Annotator: match by term: Hemolytic anemia
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ClinVar |
PMID:32581362 |
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NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788
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| G
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Gsr
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glutathione-disulfide reductase
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:13931269 |
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NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
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| G
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Hmox1
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heme oxygenase 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:9884342 |
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NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
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| G
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Itpa
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inosine triphosphatase
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treatment
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ISO
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associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
CTD Direct Evidence: therapeutic
associated with Hepatitis C, Chronic;DNA:SNPs: :rs1127354, rs6051702, rs7270101 (human)
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RGD
CTD |
PMID:20547162 PMID:21274861 PMID:23933495 |
RGD:10766472 RGD:10766479 |
NCBI chrNW_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992
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| G
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LOC101959212
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alpha-2-macroglobulin
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ISO
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RGD |
PMID:11952820 |
RGD:704364 |
NCBI chrNW_004936870:424,832...468,303
Ensembl chrNW_004936870:424,951...468,167
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| G
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LOC101976500
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haptoglobin
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ISO
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associated with Malaria
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RGD |
PMID:16637741 |
RGD:11041791 |
NCBI chrNW_004936475:21,841,054...21,845,821
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| G
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Pfkl
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phosphofructokinase, liver type
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ISO
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ClinVar Annotator: match by term: PFKL-related disorder
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936500:94,016...117,598
Ensembl chrNW_004936500:93,854...117,653
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| G
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Pgk1
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phosphoglycerate kinase 1
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ISO
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RGD |
PMID:16740138 |
RGD:1599123 |
NCBI chrNW_004936547:286,267...310,062
Ensembl chrNW_004936547:286,267...310,062
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| G
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Piezo1
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piezo type mechanosensitive ion channel component 1 (Er blood group)
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ISO
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ClinVar Annotator: match by term: Hemolytic anemia
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233
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| G
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Pklr
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pyruvate kinase L/R
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ISO
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ClinVar Annotator: match by term: Hemolytic anemia
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ClinVar |
PMID:9827908 PMID:25741868 PMID:28492532 PMID:32581362 |
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NCBI chrNW_004936580:4,770,977...4,799,316
Ensembl chrNW_004936580:4,767,109...4,779,916
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| G
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Rhag
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Rh associated glycoprotein
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ISO
|
Rh(null) syndrome, OMIM:180297
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RGD |
PMID:10467273 |
RGD:1599622 |
NCBI chrNW_004936476:11,081,631...11,106,636
Ensembl chrNW_004936476:11,081,652...11,107,211
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| G
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Slc4a1
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solute carrier family 4 member 1 (Diego blood group)
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ISO
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ClinVar Annotator: match by term: Hemolytic anemia
|
ClinVar |
PMID:893429 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:2146504 PMID:2196932 PMID:2527366 PMID:7812009 PMID:8206915 PMID:8343110 PMID:8471774 PMID:8608262 PMID:8704215 PMID:11155072 PMID:19229254 PMID:21039340 PMID:23255290 PMID:24033266 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:28492532 PMID:29725771 PMID:32926342 PMID:34805638 PMID:35738466 PMID:35845192 PMID:36231035 PMID:37353797 PMID:38319988 More...
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NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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| G
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Sod2
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superoxide dismutase 2
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ISO
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|
RGD |
PMID:11304553 |
RGD:11035277 |
NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
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| G
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Spta1
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spectrin alpha, erythrocytic 1
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ISO
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ClinVar Annotator: match by term: Hemolytic anemia
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ClinVar |
PMID:8844207 PMID:10192450 PMID:25741868 PMID:27667160 PMID:28492532 PMID:32581362 PMID:38054408 More...
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NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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| G
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Sptb
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spectrin beta, erythrocytic
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ISO
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ClinVar Annotator: match by term: Hemolytic anemia
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
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| G
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Tpi1
|
triosephosphate isomerase 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:2876430 |
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NCBI chrNW_004936709:948,151...951,430
Ensembl chrNW_004936709:945,201...951,441
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| G
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Fcgr2a
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Fc fragment of IgG receptor IIa
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ISO
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DNA:polymorphism: :
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RGD |
PMID:19129718 |
RGD:11100009 |
NCBI chrNW_004937131:15,542...22,099
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| G
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Kel
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Kell metallo-endopeptidase (Kell blood group)
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ISO
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ClinVar Annotator: match by term: KELL K/k BLOOD GROUP POLYMORPHISM
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ClinVar |
PMID:7849312 PMID:8652402 PMID:25741868 |
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NCBI chrNW_004936527:406,061...431,142
Ensembl chrNW_004936527:406,132...427,186
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| G
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Slc14a1
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solute carrier family 14 member 1 (Kidd blood group)
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ISO
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ClinVar Annotator: match by term: BLOOD GROUP, KIDD SYSTEM
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ClinVar |
|
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NCBI chrNW_004936517:1,015,069...1,039,474
Ensembl chrNW_004936517:1,015,036...1,039,529
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| G
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Slc29a1
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solute carrier family 29 member 1 (Augustine blood group)
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ISO
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ClinVar Annotator: match by term: Fetal Erythroblastosis
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ClinVar |
|
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NCBI chrNW_004936476:15,849,054...15,862,486
Ensembl chrNW_004936476:15,846,606...15,862,548
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| G
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C1galt1c1
|
C1GALT1 specific chaperone 1
|
|
ISO
|
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
|
OMIM
ClinVar |
PMID:16251947 PMID:25741868 PMID:28492532 PMID:36599939 PMID:37216524 |
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NCBI chrNW_004936479:9,416,192...9,420,327
Ensembl chrNW_004936479:9,416,284...9,420,177
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| G
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Cd36
|
CD36 molecule (CD36 blood group)
|
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ISO
|
|
RGD |
PMID:16197457 |
RGD:6893534 |
NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365
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| G
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Cd46
|
CD46 molecule
|
susceptibility
|
ISO
|
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
DNA:mutations:multiple (human)
DNA:frameshift mutation:cds:p.N233X3 (human)
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RGD |
PMID:14566051 PMID:14615110 PMID:16189652 |
RGD:11352767 RGD:11352770 RGD:11531138 |
NCBI chrNW_004936557:5,136,784...5,175,543
Ensembl chrNW_004936557:5,137,358...5,175,555
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| G
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Epo
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erythropoietin
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:12053072 |
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NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
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| G
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F2
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coagulation factor II, thrombin
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ISO
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associated with diarrhea;protein:increased expression:plasma (human)
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RGD |
PMID:9423793 |
RGD:40818428 |
NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650
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| G
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Fos
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Fos proto-oncogene, AP-1 transcription factor subunit
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ISO
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RGD |
PMID:15632024 |
RGD:7242276 |
NCBI chrNW_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122
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| G
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Il1a
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interleukin 1 alpha
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:15384034 |
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NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315
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| G
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Il1b
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interleukin 1 beta
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:15384034 |
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NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
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| G
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Il1rl1
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interleukin 1 receptor like 1
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severity
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ISO
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associated with Escherichia Coli Infections;
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RGD |
PMID:30467800 |
RGD:39458200 |
NCBI chrNW_004936713:1,020,969...1,035,012
Ensembl chrNW_004936713:1,021,044...1,035,039
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| G
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Il1rn
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interleukin 1 receptor antagonist
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ISO
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protein:increased concentration:serum (human)
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RGD |
PMID:9802632 PMID:12373296 |
RGD:6909134 RGD:6909171 |
NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340
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| G
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Il6
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interleukin 6
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:15384034 |
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NCBI chrNW_004936549:7,015,595...7,016,246
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| G
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LOC101976500
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haptoglobin
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ISO
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RGD |
PMID:6218601 |
RGD:1626361 |
NCBI chrNW_004936475:21,841,054...21,845,821
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| G
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Nqo1
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NAD(P)H quinone dehydrogenase 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:12588957 |
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NCBI chrNW_004936475:19,771,384...19,785,034
Ensembl chrNW_004936475:19,769,488...19,785,311
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| G
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Pla2g7
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phospholipase A2 group VII
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severity
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ISO
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associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human)
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RGD |
PMID:10873870 |
RGD:7257516 |
NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998
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| G
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Plat
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plasminogen activator, tissue type
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ISO
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associated with Escherichia coli Infections;protein:increased expression:plasma (human)
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RGD |
PMID:11777999 |
RGD:11541069 |
NCBI chrNW_004936785:476,200...503,371
Ensembl chrNW_004936785:476,078...503,321
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| G
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Thbd
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thrombomodulin
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ISO
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RGD |
PMID:22942429 |
RGD:11038690 |
NCBI chrNW_004936620:2,563,900...2,568,117
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| G
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Tnf
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tumor necrosis factor
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:15384034 |
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NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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| G
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Tsen2
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tRNA splicing endonuclease subunit 2
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ISO
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ClinVar Annotator: match by term: Hemolytic-uremic syndrome
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ClinVar |
PMID:34964109 |
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NCBI chrNW_004936602:1,163,927...1,195,163
Ensembl chrNW_004936602:1,164,227...1,195,221
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|
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| G
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Epb41
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erythrocyte membrane protein band 4.1
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ISO
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ClinVar Annotator: match by term: Hereditary elliptocytosis
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ClinVar |
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NCBI chrNW_004936474:12,917,009...13,090,640
Ensembl chrNW_004936474:12,991,737...13,090,615
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| G
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Slc4a1
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solute carrier family 4 member 1 (Diego blood group)
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ISO
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ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
ClinVar Annotator: match by term: Elliptocytosis | ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
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ClinVar |
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 PMID:6338046 PMID:7530501 PMID:7689982 PMID:7812009 PMID:7919393 PMID:7949112 PMID:8210309 PMID:8434259 PMID:8640229 PMID:8704215 PMID:8873423 PMID:8943874 PMID:9012689 PMID:9207478 PMID:9312167 PMID:9600966 PMID:9734643 PMID:9854053 PMID:10403343 PMID:10926824 PMID:10942416 PMID:11208088 PMID:11380459 PMID:11934690 PMID:12081559 PMID:12087557 PMID:12750988 PMID:12938018 PMID:14618420 PMID:14734552 PMID:16107207 PMID:16199547 PMID:16227998 PMID:16420521 PMID:17215882 PMID:17557941 PMID:17690931 PMID:18266205 PMID:18524859 PMID:19229254 PMID:19289107 PMID:19625994 PMID:20068363 PMID:20151848 PMID:20421175 PMID:20799361 PMID:22126643 PMID:22518001 PMID:22609520 PMID:23255290 PMID:23842529 PMID:24652967 PMID:25111073 PMID:25741868 PMID:26571219 PMID:27058983 PMID:27718309 PMID:28045035 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:28638614 PMID:29627839 PMID:29725771 PMID:29790872 PMID:30124986 PMID:30192042 PMID:30230413 PMID:31147440 PMID:31364155 PMID:31672324 PMID:31959358 PMID:32071839 PMID:32154456 PMID:32436265 PMID:32632909 PMID:32641076 PMID:32926342 PMID:33074480 PMID:33532864 PMID:34159584 PMID:34201899 PMID:34746046 PMID:35099593 PMID:35738466 PMID:35845192 PMID:37353797 PMID:38319988 PMID:357386466 More...
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NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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| G
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Spta1
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spectrin alpha, erythrocytic 1
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ISO
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ClinVar Annotator: match by term: Elliptocytosis
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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| G
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Sptb
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spectrin beta, erythrocytic
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ISO
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ClinVar Annotator: match by term: Elliptocytosis
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ClinVar |
PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 |
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NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
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|
|
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| G
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Slc46a1
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solute carrier family 46 member 1
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ISO
|
ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: SLC46A1-related condition
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OMIM
ClinVar |
PMID:3987728 PMID:11804211 PMID:17446347 PMID:18559978 PMID:19176287 PMID:20005757 PMID:20301716 PMID:20795774 PMID:21333572 PMID:21602279 PMID:22843796 PMID:24534056 PMID:25167861 PMID:25741868 PMID:28492532 More...
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|
NCBI chrNW_004936538:4,549,032...4,642,870
Ensembl chrNW_004936538:4,549,599...4,555,415
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|
|
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| G
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Spta1
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spectrin alpha, erythrocytic 1
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|
ISO
|
ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary
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OMIM
ClinVar |
PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 PMID:1679439 PMID:1845156 PMID:2043465 PMID:2328319 PMID:2346729 PMID:2567189 PMID:2568862 PMID:2794061 PMID:3597773 PMID:3708157 PMID:3785322 PMID:3922449 PMID:4027386 PMID:4077050 PMID:6236232 PMID:7074218 PMID:8040317 PMID:8068958 PMID:8081008 PMID:8132574 PMID:8370581 PMID:8435324 PMID:8444470 PMID:8790144 PMID:8844207 PMID:8857939 PMID:8941647 PMID:9192783 PMID:9536098 PMID:9746802 PMID:10192450 PMID:14628287 PMID:15071791 PMID:15384986 PMID:16150946 PMID:16199547 PMID:17576681 PMID:18218854 PMID:18815189 PMID:21212007 PMID:23241237 PMID:24033266 PMID:25741868 PMID:26002053 PMID:26467025 PMID:27292444 PMID:27667160 PMID:27863252 PMID:28090778 PMID:28492532 PMID:29105823 PMID:29396846 PMID:29729090 PMID:30267408 PMID:30275003 PMID:30317022 PMID:30393954 PMID:30816434 PMID:31038472 PMID:31147440 PMID:31286676 PMID:31333484 PMID:31723846 PMID:32266426 PMID:32436265 PMID:32581362 PMID:32641076 PMID:32888494 PMID:33074880 PMID:34201899 PMID:35845192 PMID:36964972 PMID:38054408 More...
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NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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| G
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Sptb
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spectrin beta, erythrocytic
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ISO
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ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary
|
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
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|
|
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| G
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Ank1
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ankyrin 1
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severity
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ISO
|
DNA:deletion mutation:exon:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
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RGD
ClinVar |
PMID:9536098 PMID:14671619 PMID:17576681 PMID:25741868 PMID:28492532 |
RGD:11251681 |
NCBI chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381
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| G
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Cad
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carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:38827 |
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NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
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| G
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Dhodh
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dihydroorotate dehydrogenase (quinone)
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:38827 |
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NCBI chrNW_004936475:21,863,627...21,877,660
Ensembl chrNW_004936475:21,862,166...21,877,711
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| G
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Epb42
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erythrocyte membrane protein band 4.2
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|
ISO
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ClinVar Annotator: match by term: Spherocytosis, Recessive
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ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753
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| G
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Gpi
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glucose-6-phosphate isomerase
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ISO
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ClinVar Annotator: match by term: Hereditary spherocytosis
|
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788
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| G
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Klf1
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KLF transcription factor 1
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|
ISO
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DNA:missense mutation:exon:p.E339D (1065A>T) (human)
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RGD
MouseDO |
PMID:20691777 |
RGD:10769342 |
NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
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|
| G
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Slc4a1
|
solute carrier family 4 member 1 (Diego blood group)
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:36231035 |
|
NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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|
| G
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Spta1
|
spectrin alpha, erythrocytic 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
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ClinVar |
PMID:2794061 PMID:3597773 PMID:8857939 PMID:8941647 PMID:15384986 PMID:18815189 PMID:23974198 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 PMID:30976395 PMID:31038472 PMID:31130284 PMID:31147440 PMID:31333484 PMID:31539204 PMID:31723846 PMID:32436265 PMID:32641076 PMID:32751168 PMID:37400730 More...
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NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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| G
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Sptb
|
spectrin beta, erythrocytic
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
|
ClinVar |
PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 |
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NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
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| G
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Umps
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uridine monophosphate synthetase
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:38827 |
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NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141
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|
|
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| G
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Add2
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adducin 2
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ISO
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OMIM:182900
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MouseDO |
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NCBI chrNW_004936491:14,856,764...14,971,161
Ensembl chrNW_004936491:14,862,531...14,971,329
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| G
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Ank1
|
ankyrin 1
|
|
ISO
|
ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
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OMIM
ClinVar |
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 PMID:9887280 PMID:11102985 PMID:11167760 PMID:11372755 PMID:11527968 PMID:12899723 PMID:15071790 PMID:16037067 PMID:16199547 PMID:17327413 PMID:17576681 PMID:21099109 PMID:22573887 PMID:23322884 PMID:24033266 PMID:25741868 PMID:26830532 PMID:27292444 PMID:27399967 PMID:27427187 PMID:28102861 PMID:28492532 PMID:29396846 PMID:29449435 PMID:29572776 PMID:29597199 PMID:30207817 PMID:31016877 PMID:31122244 PMID:31602632 PMID:31669644 PMID:31723846 PMID:31980736 PMID:32036089 PMID:32436265 PMID:32518793 PMID:32641076 PMID:32702754 PMID:33014018 PMID:33074480 PMID:33083013 PMID:33116287 PMID:33620149 PMID:33868383 PMID:34131631 PMID:34307574 PMID:34335240 PMID:34953813 PMID:35022413 PMID:35351432 PMID:36071563 PMID:36203343 PMID:36468602 PMID:36544651 PMID:36598564 PMID:36816036 PMID:37996759 PMID:38592584 More...
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|
NCBI chrNW_004936785:738,323...944,734
Ensembl chrNW_004936785:738,317...942,381
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| G
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Epb42
|
erythrocyte membrane protein band 4.2
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|
ISO
|
OMIM:182900
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MouseDO |
|
|
NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753
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| G
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Spta1
|
spectrin alpha, erythrocytic 1
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|
ISO
|
OMIM:182900
|
MouseDO |
|
|
NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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|
|
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| G
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Sptb
|
spectrin beta, erythrocytic
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition
|
OMIM
ClinVar |
PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 PMID:8667615 PMID:8844207 PMID:9536098 PMID:9714702 PMID:11703334 PMID:17576681 PMID:19538529 PMID:25741868 PMID:26830532 PMID:27292444 PMID:28102861 PMID:28492532 PMID:29396846 PMID:29572776 PMID:29758562 PMID:30198572 PMID:30486584 PMID:31122244 PMID:31126250 PMID:31602632 PMID:31723846 PMID:31807509 PMID:31980736 PMID:32392960 PMID:32436265 PMID:32596782 PMID:32641076 PMID:33014018 PMID:33074480 PMID:33868383 PMID:34140613 PMID:34182956 PMID:34201899 PMID:34335240 PMID:35406697 PMID:36071563 PMID:36135330 PMID:36203343 PMID:38069343 PMID:38556258 PMID:38592584 More...
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|
NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
|
|
|
|
| G
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Spta1
|
spectrin alpha, erythrocytic 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spherocytosis type 3
|
OMIM
ClinVar |
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8844207 PMID:8941647 PMID:9192783 PMID:10192450 PMID:15071791 PMID:15384986 PMID:18218854 PMID:18815189 PMID:21212007 PMID:23241237 PMID:24033266 PMID:24895341 PMID:25741868 PMID:26002053 PMID:27292444 PMID:27667160 PMID:27863252 PMID:28090778 PMID:28492532 PMID:29105823 PMID:29396846 PMID:30267408 PMID:31038472 PMID:31040790 PMID:31147440 PMID:31333484 PMID:31364155 PMID:31602632 PMID:31723846 PMID:31854503 PMID:32266426 PMID:32436265 PMID:32581362 PMID:32641076 PMID:32888494 PMID:33074880 PMID:35351432 PMID:35845192 PMID:35950897 PMID:38054408 More...
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NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
|
|
|
|
| G
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Slc4a1
|
solute carrier family 4 member 1 (Diego blood group)
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spherocytosis type 4
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ClinVar |
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:1722314 PMID:1737855 PMID:2146504 PMID:2196932 PMID:2527366 PMID:4116984 PMID:6338046 PMID:7530501 PMID:7689982 PMID:7812009 PMID:7919393 PMID:7949112 PMID:8011524 PMID:8206915 PMID:8210309 PMID:8282779 PMID:8343110 PMID:8434259 PMID:8471774 PMID:8547122 PMID:8567957 PMID:8608262 PMID:8640229 PMID:8704215 PMID:8873423 PMID:8943874 PMID:9012689 PMID:9207478 PMID:9233560 PMID:9312167 PMID:9565662 PMID:9600966 PMID:9734643 PMID:9854053 PMID:9973643 PMID:10403343 PMID:10580570 PMID:10745622 PMID:10766130 PMID:10926824 PMID:10942416 PMID:11155072 PMID:11208088 PMID:11380459 PMID:11934690 PMID:12081559 PMID:12087557 PMID:12750988 PMID:12938018 PMID:14618420 PMID:14734552 PMID:16107207 PMID:16199547 PMID:16227998 PMID:16420521 PMID:17215882 PMID:17557941 PMID:17690931 PMID:18266205 PMID:18524859 PMID:19229254 PMID:19289107 PMID:19565014 PMID:19625994 PMID:20068363 PMID:20151848 PMID:20421175 PMID:20799361 PMID:21039340 PMID:22126643 PMID:22518001 PMID:22609520 PMID:23255290 PMID:23842529 PMID:24033266 PMID:24652967 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:27058983 PMID:27292444 PMID:27718309 PMID:28045035 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:28638614 PMID:29572776 PMID:29627839 PMID:29725771 PMID:29790872 PMID:30124986 PMID:30230413 PMID:31122244 PMID:31126250 PMID:31147440 PMID:31364155 PMID:31672324 PMID:31959358 PMID:32071839 PMID:32154456 PMID:32266426 PMID:32436265 PMID:32632909 PMID:32641076 PMID:32926342 PMID:33074480 PMID:33532864 PMID:34093240 PMID:34159584 PMID:34201899 PMID:34746046 PMID:34805638 PMID:35099593 PMID:35738466 PMID:35845192 PMID:36203343 PMID:36231035 PMID:37353797 PMID:38319988 PMID:357386466 More...
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NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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| G
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Epb42
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erythrocyte membrane protein band 4.2
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ISO
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ClinVar Annotator: match by term: Hereditary spherocytosis type 5
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OMIM
ClinVar |
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 PMID:8528207 PMID:8547071 PMID:8635206 PMID:10406914 PMID:12176912 PMID:15692067 PMID:19508687 PMID:25741868 PMID:28492532 PMID:29402830 PMID:32726712 PMID:36203343 More...
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NCBI chrNW_004936471:6,377,232...6,393,588
Ensembl chrNW_004936471:6,377,775...6,395,753
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| G
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Hk1
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hexokinase 1
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ISO
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ClinVar Annotator: match by term: Hexokinase deficiency hemolytic anemia
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ClinVar |
PMID:6848140 PMID:7655856 PMID:11783948 PMID:12211198 PMID:12393545 PMID:19536174 PMID:19608687 PMID:22978647 PMID:25741868 PMID:27282571 PMID:28492532 PMID:30778173 PMID:31119733 PMID:31785789 PMID:34448047 PMID:34532855 PMID:38415930 More...
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NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
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| G
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Mmadhc
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metabolism of cobalamin associated D
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ISO
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ClinVar Annotator: match by term: Homocystinuria-megaloblastic anemia cblD type
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ClinVar
OMIM |
PMID:15292234 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936469:27,771,741...27,804,324
Ensembl chrNW_004936469:27,771,937...27,787,233
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| G
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Mtrr
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5-methyltetrahydrofolate-homocysteine methyltransferase reductase
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susceptibility
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ISO
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ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE
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ClinVar
OMIM |
PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 PMID:10484769 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12555939 PMID:12923861 PMID:12971424 PMID:15292234 PMID:15494741 PMID:15714522 PMID:15979034 PMID:16199547 PMID:17576681 PMID:20120036 PMID:22887477 PMID:24033266 PMID:25227144 PMID:25526710 PMID:25741868 PMID:25978498 PMID:28492532 PMID:28518168 PMID:30041674 PMID:31063268 PMID:32461654 PMID:33042249 PMID:33980297 PMID:38678107 More...
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NCBI chrNW_004936643:379,790...410,034
Ensembl chrNW_004936643:380,968...409,464
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| G
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Per3
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period circadian regulator 3
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ISO
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ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936623:2,291,211...2,362,693
Ensembl chrNW_004936623:2,290,614...2,336,634
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| G
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Mtr
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5-methyltetrahydrofolate-homocysteine methyltransferase
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ISO
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ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
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ClinVar |
PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 PMID:9683607 PMID:10323741 PMID:12068375 PMID:12154064 PMID:12375236 PMID:12923861 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:20890936 PMID:21615938 PMID:22406018 PMID:22786600 PMID:22887477 PMID:25227144 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25758715 PMID:25856670 PMID:26198278 PMID:28210839 PMID:28492532 PMID:28666289 PMID:30676783 PMID:32533987 PMID:32581362 PMID:34269512 PMID:34625984 PMID:37404677 PMID:37471090 More...
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NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148
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| G
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Mtrr
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5-methyltetrahydrofolate-homocysteine methyltransferase reductase
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ISO
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ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936643:379,790...410,034
Ensembl chrNW_004936643:380,968...409,464
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| G
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Acta1
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actin alpha 1, skeletal muscle
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936484:20,236,320...20,239,385
Ensembl chrNW_004936484:20,236,320...20,239,430
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| G
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Anks3
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ankyrin repeat and sterile alpha motif domain containing 3
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936530:4,698,234...4,723,131
Ensembl chrNW_004936530:4,695,401...4,722,924
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| G
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Arid1a
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AT-rich interaction domain 1A
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936474:11,148,857...11,197,312
Ensembl chrNW_004936474:11,150,159...11,194,800
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| G
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Ccbe1
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collagen and calcium binding EGF domains 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:19911200 |
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NCBI chrNW_004936497:5,290,068...5,321,656
Ensembl chrNW_004936497:5,290,077...5,321,876
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| G
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Chrna1
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cholinergic receptor nicotinic alpha 1 subunit
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:26036949 |
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NCBI chrNW_004936509:4,452,382...4,470,658
Ensembl chrNW_004936509:4,452,616...4,470,658
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| G
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Ctsa
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cathepsin A
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:26036949 |
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NCBI chrNW_004936514:7,131,263...7,136,775
Ensembl chrNW_004936514:7,130,848...7,136,536
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| G
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Dhcr24
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24-dehydrocholesterol reductase
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 PMID:33027564 PMID:37236975 |
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NCBI chrNW_004936522:6,423,561...6,447,363
Ensembl chrNW_004936522:6,423,561...6,444,814
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| G
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Dnah14
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dynein axonemal heavy chain 14
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:26036949 |
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NCBI chrNW_004936526:1,922,088...2,252,731
Ensembl chrNW_004936526:1,942,923...2,252,731
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| G
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Dnah9
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dynein axonemal heavy chain 9
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 |
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NCBI chrNW_004936595:4,338,831...4,671,178
Ensembl chrNW_004936595:4,338,831...4,670,498
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| G
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Ehbp1l1
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EH domain binding protein 1 like 1
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 PMID:34645488 |
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NCBI chrNW_004936599:3,867,185...3,882,712
Ensembl chrNW_004936599:3,867,005...3,882,732
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| G
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Ephb4
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EPH receptor B4
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936543:794,837...811,637
Ensembl chrNW_004936543:794,725...811,637
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| G
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Fen1
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flap structure-specific endonuclease 1
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
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NCBI chrNW_004936581:1,328,685...1,332,713
Ensembl chrNW_004936581:1,328,685...1,332,728
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| G
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Flt4
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fms related receptor tyrosine kinase 4
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936739:240,572...281,925
Ensembl chrNW_004936739:236,510...281,729
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| G
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Foxc2
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forkhead box C2
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:11499682 PMID:12114478 PMID:12485195 PMID:25741868 |
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NCBI chrNW_004936641:2,236,224...2,238,501
Ensembl chrNW_004936641:2,236,873...2,238,375
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| G
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Foxp3
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forkhead box P3
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ISO
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ClinVar Annotator: match by term: Hydrops fetalis
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ClinVar |
PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 PMID:25741868 PMID:28492532 PMID:28778586 PMID:28783662 PMID:30293990 PMID:30443250 PMID:31130284 PMID:33637067 More...
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NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308
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| G
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Fzd6
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frizzled class receptor 6
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 PMID:26036949 |
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NCBI chrNW_004936470:40,416,254...40,454,717
Ensembl chrNW_004936470:40,416,014...40,454,062
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| G
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Galnt14
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polypeptide N-acetylgalactosaminyltransferase 14
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 PMID:26036949 |
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NCBI chrNW_004936493:1,984,054...2,184,693
Ensembl chrNW_004936493:1,984,238...2,184,271
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| G
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Gusb
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glucuronidase beta
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:26036949 PMID:28492532 PMID:29620724 PMID:31130284 PMID:31497474 More...
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NCBI chrNW_004936543:7,721,273...7,732,468
Ensembl chrNW_004936543:7,721,763...7,731,897
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| G
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Hras
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HRas proto-oncogene, GTPase
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ISO
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ClinVar Annotator: match by term: Fetal edema
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ClinVar |
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20658932 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:31222966 PMID:31775759 More...
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NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958
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| G
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Kif19
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kinesin family member 19
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936655:131,367...156,888
Ensembl chrNW_004936655:131,829...156,888
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| G
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Kras
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KRAS proto-oncogene, GTPase
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:24549645 PMID:25741868 |
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NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
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| G
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Lztr1
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leucine zipper like post translational regulator 1
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ISO
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ClinVar Annotator: match by term: Fetal edema
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ClinVar |
PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33027564 PMID:33258288 PMID:38217456 PMID:39062695 More...
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NCBI chrNW_004936619:2,505,300...2,523,500
Ensembl chrNW_004936619:2,505,542...2,523,500
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| G
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Mocs3
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molybdenum cofactor synthesis 3
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
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NCBI chrNW_004936514:3,830,189...3,832,194
Ensembl chrNW_004936514:3,830,627...3,832,009
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| G
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Mybphl
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myosin binding protein H like
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
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NCBI chrNW_004936704:815,325...831,149
Ensembl chrNW_004936704:815,271...830,084
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| G
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Myo18a
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myosin XVIIIA
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ISO
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ClinVar Annotator: match by term: Hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936538:5,257,165...5,351,757
Ensembl chrNW_004936538:5,258,401...5,344,669
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| G
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Myom1
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myomesin 1
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ISO
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ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops | ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 PMID:26036949 PMID:28492532 PMID:31130284 |
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NCBI chrNW_004936672:1,351,053...1,481,954
Ensembl chrNW_004936672:1,351,002...1,482,124
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| G
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Myrf
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myelin regulatory factor
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936581:1,335,969...1,367,104
Ensembl chrNW_004936581:1,338,762...1,367,104
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| G
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Neb
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nebulin
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 PMID:28492532 More...
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NCBI chrNW_004936469:25,837,577...26,040,271
Ensembl chrNW_004936469:25,837,577...26,039,536
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| G
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Neu1
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neuraminidase 1
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ISO
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ClinVar Annotator: match by term: Fetal edema
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ClinVar |
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NCBI chrNW_004936727:1,683,283...1,687,130
Ensembl chrNW_004936727:1,683,204...1,688,883
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| G
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Nsd1
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nuclear receptor binding SET domain protein 1
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936597:1,426,318...1,577,193
Ensembl chrNW_004936597:1,425,974...1,572,715
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| G
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Piezo1
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piezo type mechanosensitive ion channel component 1 (Er blood group)
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ISO
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ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24314002 PMID:25741868 PMID:27479843 PMID:28492532 PMID:28716860 PMID:30244526 PMID:31680349 PMID:33027564 More...
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NCBI chrNW_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233
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| G
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Prpf19
|
pre-mRNA processing factor 19
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
|
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NCBI chrNW_004936581:2,031,894...2,042,294
Ensembl chrNW_004936581:2,031,822...2,042,424
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| G
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Ptpn11
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protein tyrosine phosphatase non-receptor type 11
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ISO
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ClinVar Annotator: match by term: Fetal edema
|
ClinVar |
PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15987685 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16990350 PMID:17020470 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18470943 PMID:18562489 PMID:19008228 PMID:19020799 PMID:19047918 PMID:19179468 PMID:19251646 PMID:19835954 PMID:20651068 PMID:21106241 PMID:21365683 PMID:21784453 PMID:21901340 PMID:22371576 PMID:22420426 PMID:22681964 PMID:23321623 PMID:24033266 PMID:24183200 PMID:24628801 PMID:24718990 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27030275 PMID:27069254 PMID:27276561 PMID:28492532 PMID:30732632 More...
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|
NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448
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| G
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Rapsn
|
receptor associated protein of the synapse
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ISO
|
ClinVar Annotator: match by term: Hydrops fetalis
|
ClinVar |
PMID:10449659 PMID:25741868 PMID:31680349 |
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NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181
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| G
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Rit1
|
Ras like without CAAX 1
|
|
ISO
|
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 PMID:25741868 PMID:26242988 PMID:26446362 PMID:26714497 PMID:26757980 PMID:27101134 PMID:27699752 PMID:28323383 PMID:28492532 PMID:30266093 PMID:33190430 PMID:33258288 PMID:36274670 More...
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NCBI chrNW_004936580:5,157,351...5,166,790
Ensembl chrNW_004936580:5,156,565...5,167,040
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| G
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Rock2
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Rho associated coiled-coil containing protein kinase 2
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936532:7,142,580...7,284,722
Ensembl chrNW_004936532:7,145,882...7,286,244
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| G
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Ryr1
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ryanodine receptor 1
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ISO
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ClinVar Annotator: match by term: Hydrops fetalis
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ClinVar |
PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25960145 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31680349 PMID:33333461 More...
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NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289
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| G
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Ryr3
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ryanodine receptor 3
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ISO
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ClinVar Annotator: match by term: Hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066
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| G
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Serpina11
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serpin family A member 11
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
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NCBI chrNW_004936846:51,074...57,452
Ensembl chrNW_004936846:51,188...58,246
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| G
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Shoc2
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SHOC2 leucine rich repeat scaffold protein
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 More...
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NCBI chrNW_004936486:1,723,253...1,809,416
Ensembl chrNW_004936486:1,722,919...1,809,699
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| G
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Slc26a3
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solute carrier family 26 member 3
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ISO
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ClinVar Annotator: match by term: Hydrops fetalis
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ClinVar |
PMID:9718329 PMID:21394828 PMID:25741868 PMID:28492532 PMID:31680349 PMID:33191723 PMID:34503561 More...
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NCBI chrNW_004936479:16,350,746...16,374,911
Ensembl chrNW_004936479:16,350,773...16,377,367
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| G
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Suz12
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SUZ12 polycomb repressive complex 2 subunit
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936538:2,921,987...2,971,521
Ensembl chrNW_004936538:2,921,719...2,971,552
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| G
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Svopl
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SVOP like
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
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NCBI chrNW_004936592:2,966,349...3,025,500
Ensembl chrNW_004936592:2,969,764...3,025,500
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| G
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Thsd1
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thrombospondin type 1 domain containing 1
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:25741868 PMID:26036949 PMID:28749478 |
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NCBI chrNW_004936565:4,925,400...4,952,210
Ensembl chrNW_004936565:4,925,237...4,954,054
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| G
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Ubn1
|
ubinuclein 1
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
PMID:26036949 |
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NCBI chrNW_004936530:4,795,974...4,826,217
Ensembl chrNW_004936530:4,795,968...4,826,137
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| G
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Vps13d
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vacuolar protein sorting 13 homolog D
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ISO
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ClinVar Annotator: match by term: Non-immune hydrops fetalis
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ClinVar |
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NCBI chrNW_004936474:955,081...1,194,200
Ensembl chrNW_004936474:955,040...1,195,859
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| G
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Lars2
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leucyl-tRNA synthetase 2, mitochondrial
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ISO
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ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition
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OMIM
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28000701 PMID:28492532 PMID:30737337 PMID:32442335 PMID:32747562 More...
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NCBI chrNW_004936695:353,965...492,014
Ensembl chrNW_004936695:350,975...492,011
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| G
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Slc11a2
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solute carrier family 11 member 2
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ISO
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DNA:deletion, missense mutation:cds:428_430delGTG, p.G212V (human)
DNA:missense mutation:cds:p.G185R (human)
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RGD |
PMID:9241278 PMID:9448300 PMID:16439678 |
RGD:1580430 RGD:729808 RGD:9743973 |
NCBI chrNW_004936512:8,590,302...8,622,121
Ensembl chrNW_004936512:8,586,262...8,623,597
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| G
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Irx5
|
iroquois homeobox 5
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:22581230 |
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NCBI chrNW_004936475:7,354,273...7,358,328
Ensembl chrNW_004936475:7,354,642...7,358,553
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| G
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LOC101970831
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serotransferrin
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:11110675 |
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NCBI chrNW_004936529:6,917,762...6,947,512
Ensembl chrNW_004936529:6,855,958...6,947,394
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| G
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Tfrc
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transferrin receptor
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ISO
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mRNA,protein:decreased expression: erythrocyte:
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RGD |
PMID:18552213 |
RGD:11062089 |
NCBI chrNW_004936784:696,738...728,385
Ensembl chrNW_004936784:696,713...728,543
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| G
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Tnf
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tumor necrosis factor
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ISO
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associated with Arthritis, Rheumatoid
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RGD |
PMID:18205195 |
RGD:10450526 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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| G
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Slc11a2
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solute carrier family 11 member 2
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ISO
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ClinVar Annotator: match by term: Microcytic anemia with liver iron overload
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ClinVar |
PMID:15459009 PMID:16160008 PMID:16439678 PMID:25741868 PMID:28492532 PMID:35457224 More...
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NCBI chrNW_004936512:8,590,302...8,622,121
Ensembl chrNW_004936512:8,586,262...8,623,597
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| G
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Steap3
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STEAP3 metalloreductase
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chrNW_004936469:51,084,250...51,121,738
Ensembl chrNW_004936469:51,054,517...51,126,664
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| G
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Slc11a2
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solute carrier family 11 member 2
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ISO
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ClinVar Annotator: match by term: SLC11A2-related condition
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OMIM
ClinVar |
PMID:25741868 PMID:28492532 PMID:35457224 |
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NCBI chrNW_004936512:8,590,302...8,622,121
Ensembl chrNW_004936512:8,586,262...8,623,597
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| G
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Steap3
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STEAP3 metalloreductase
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ISO
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ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 | ClinVar Annotator: match by term: STEAP3-related condition
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OMIM
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936469:51,084,250...51,121,738
Ensembl chrNW_004936469:51,054,517...51,126,664
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| G
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Amn
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amnion associated transmembrane protein
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ISO
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ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
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ClinVar |
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17576681 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24044590 PMID:25741868 PMID:26040326 PMID:28492532 PMID:30523278 PMID:30691194 PMID:32045704 PMID:33491342 More...
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NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234
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| G
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Cubn
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cubilin
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ISO
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ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
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ClinVar |
PMID:7573042 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17576681 PMID:17668238 PMID:21208123 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26040326 PMID:26467025 PMID:27197912 PMID:27766458 PMID:28204945 PMID:28492532 PMID:29402915 PMID:29801666 PMID:30220432 PMID:30547231 PMID:31308072 PMID:31497480 PMID:31613795 PMID:31630189 PMID:33226606 PMID:33532864 PMID:34426522 PMID:34610128 PMID:34979989 PMID:35460704 PMID:36112210 PMID:36891821 PMID:36926036 PMID:37312928 PMID:38488435 More...
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NCBI chrNW_004936520:10,140,784...10,410,082
Ensembl chrNW_004936520:10,140,784...10,409,851
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| G
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Amn
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amnion associated transmembrane protein
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ISO
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ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA
ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA
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ClinVar |
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17285242 PMID:17576681 PMID:21750092 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:26040326 PMID:28492532 PMID:30523278 PMID:32045704 More...
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NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234
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| G
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Cblif
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cobalamin binding intrinsic factor
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ISO
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DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:
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RGD |
PMID:10435666 PMID:15738392 |
RGD:11049583 RGD:11049586 |
NCBI chrNW_004936581:2,919,793...2,933,743
Ensembl chrNW_004936581:2,920,355...2,933,403
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| G
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Cubn
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cubilin
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ISO
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ClinVar Annotator: match by term: ENTEROCYTE COBALAMIN MALABSORPTION | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA
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OMIM
ClinVar |
PMID:7573042 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17576681 PMID:17668238 PMID:21208123 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27197912 PMID:27766458 PMID:28204945 PMID:28492532 PMID:29402915 PMID:29801666 PMID:30220432 PMID:30547231 PMID:31308072 PMID:31497480 PMID:31613795 PMID:31630189 PMID:33226606 PMID:33532864 PMID:34426522 PMID:34610128 PMID:34979989 PMID:35460704 PMID:36112210 PMID:36891821 PMID:36926036 PMID:37312928 More...
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NCBI chrNW_004936520:10,140,784...10,410,082
Ensembl chrNW_004936520:10,140,784...10,409,851
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| G
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Amn
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amnion associated transmembrane protein
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ISO
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ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type
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OMIM
ClinVar |
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17576681 PMID:22078000 PMID:22929189 PMID:24044590 PMID:24156255 PMID:25741868 PMID:26040326 PMID:28492532 PMID:30523278 PMID:32045704 More...
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NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234
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| G
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Socs1
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suppressor of cytokine signaling 1
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ISO
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ClinVar Annotator: match by term: Immuno-hemolytic anemia
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ClinVar |
PMID:32853638 PMID:33087723 |
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NCBI chrNW_004936530:9,312,965...9,315,593
Ensembl chrNW_004936530:9,312,965...9,316,165
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| G
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Dpp9
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dipeptidyl peptidase 9
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ISO
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ClinVar Annotator: match by term: Hatipoglu immunodeficiency syndrome
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OMIM
ClinVar |
PMID:25741868 PMID:36112693 |
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NCBI chrNW_004936588:2,720,574...2,756,213
Ensembl chrNW_004936588:2,719,642...2,756,248
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| G
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Bcl11a
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BCL11 transcription factor A
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ISO
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ClinVar Annotator: match by term: BCL11A-related condition | ClinVar Annotator: match by term: BCL11A-related intellectual disability | ClinVar Annotator: match by term: Dias-Logan syndrome | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin
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OMIM
ClinVar |
PMID:22542183 PMID:25418537 PMID:25741868 PMID:27453576 PMID:28492532 PMID:28891213 PMID:29758562 PMID:31474318 PMID:33116287 PMID:39825153 More...
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NCBI chrNW_004936491:6,021,340...6,118,103
Ensembl chrNW_004936491:6,021,343...6,118,568
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| G
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App
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amyloid beta precursor protein
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ISO
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mRNA:decreased expression:hippocampus:
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RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chrNW_004936640:1,549,977...1,787,436
Ensembl chrNW_004936640:1,550,167...1,787,286
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| G
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Atp7a
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ATPase copper transporting alpha
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severity
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ISO
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mRNA:increased expression:duodenum (mouse)
mRNA:increased expression:small intestine mucosa (rat)
DNA:deletion:cds:p.A799_L800del (mouse)
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RGD |
PMID:15637178 PMID:23776592 |
RGD:11252172 RGD:2315589 |
NCBI chrNW_004936683:2,874,022...2,936,214
Ensembl chrNW_004936683:2,874,042...2,935,040
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| G
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C1qa
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complement C1q A chain
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ISO
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mRNA:increased expression:hippocampus:
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RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chrNW_004936474:8,007,953...8,010,591
Ensembl chrNW_004936474:8,008,534...8,010,191
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| G
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Crp
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C-reactive protein
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ISO
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protein:increased expression:plasma
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RGD |
PMID:19730160 |
RGD:5131463 |
NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606
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| G
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Fn1
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fibronectin 1
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ISO
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mRNA:increased expression:hippocampus:
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RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chrNW_004936586:1,708,803...1,773,372
Ensembl chrNW_004936586:1,708,684...1,773,383
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| G
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Gpx1
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glutathione peroxidase 1
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treatment
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ISO
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associated with Renal Insufficiency, Chronic
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RGD |
PMID:7861256 PMID:24691014 |
RGD:11352760 RGD:11352819 |
NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
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| G
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Gsr
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glutathione-disulfide reductase
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ISO
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protein:increased activity:plasma:
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RGD |
PMID:25097522 |
RGD:11059505 |
NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
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| G
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Hamp
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hepcidin antimicrobial peptide
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ISO
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mRNA:decreased expression:liver
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RGD |
PMID:17218383 PMID:22457245 |
RGD:11041606 RGD:11041634 |
NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686
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| G
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Hfe
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homeostatic iron regulator
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ISO
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associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human)
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RGD |
PMID:29194702 |
RGD:14701052 |
NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580
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| G
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Il6
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interleukin 6
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treatment
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ISO
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associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat)
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RGD |
PMID:18808386 PMID:31524964 |
RGD:11062011 RGD:598092517 |
NCBI chrNW_004936549:7,015,595...7,016,246
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| G
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Ireb2
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iron responsive element binding protein 2
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ISO
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mRNA:increased expression:duodenal mucosa (rat)
protein:altered activity:intestinal villus of duodenum (rat)
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RGD |
PMID:10095770 PMID:18549630 |
RGD:12904038 RGD:12910699 |
NCBI chrNW_004936471:36,547,552...36,601,327
Ensembl chrNW_004936471:36,547,500...36,600,636
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| G
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Itga2
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integrin subunit alpha 2
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ISO
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DNA:SNP: :807C>T (human)
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RGD |
PMID:12225391 |
RGD:11530068 |
NCBI chrNW_004936480:14,320,292...14,417,828
Ensembl chrNW_004936480:14,320,692...14,417,786
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| G
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Kat5
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lysine acetyltransferase 5
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ISO
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mRNA:increased expression:hippocampus (rat)
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RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chrNW_004936599:3,767,526...3,775,416
Ensembl chrNW_004936599:3,766,242...3,776,128
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| G
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LOC101970831
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serotransferrin
|
susceptibility
|
ISO
|
DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia
|
RGD
ClinVar |
PMID:11703331 PMID:12752114 PMID:16398662 PMID:25741868 PMID:28492532 |
RGD:1601513 |
NCBI chrNW_004936529:6,917,762...6,947,512
Ensembl chrNW_004936529:6,855,958...6,947,394
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| G
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LOC101976500
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haptoglobin
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ISO
|
protein:decreased expression:serum
|
RGD |
PMID:647925 |
RGD:11041798 |
NCBI chrNW_004936475:21,841,054...21,845,821
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| G
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Mb
|
myoglobin
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ISO
|
protein:decreased expression:skeletal muscle
|
RGD |
PMID:956378 |
RGD:488078620 |
NCBI chrNW_004936492:4,890,871...4,897,665
Ensembl chrNW_004936492:4,890,871...4,897,665
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| G
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Pon1
|
paraoxonase 1
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treatment
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ISO
|
protein:decreased activity:serum (human)
|
RGD |
PMID:16684543 PMID:26926576 |
RGD:11552586 RGD:11553834 |
NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591
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| G
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Slc11a2
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solute carrier family 11 member 2
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ISO
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CTD Direct Evidence: marker/mechanism
protein:increased expression:nasal cavity olfactory epithelium
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CTD
RGD |
PMID:17116712 PMID:17116743 |
RGD:2311409 |
NCBI chrNW_004936512:8,590,302...8,622,121
Ensembl chrNW_004936512:8,586,262...8,623,597
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| G
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Slc4a1
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solute carrier family 4 member 1 (Diego blood group)
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ISO
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protein:decreased expression:erythrocyte, membrane (rat)
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RGD |
PMID:1317772 |
RGD:10450513 |
NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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| G
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Sod1
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superoxide dismutase 1
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17057260 |
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NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867
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| G
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Tfrc
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transferrin receptor
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ISO
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mRNA:increased expression:placenta:
protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
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RGD
CTD |
PMID:15104997 PMID:16733738 PMID:17162259 PMID:17163184 PMID:17877204 PMID:26303393 More...
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RGD:11062096 RGD:11062104 RGD:11062105 |
NCBI chrNW_004936784:696,738...728,385
Ensembl chrNW_004936784:696,713...728,543
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| G
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Tmprss6
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transmembrane serine protease 6
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18408718 PMID:22169218 |
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NCBI chrNW_004936492:3,819,347...3,848,372
Ensembl chrNW_004936492:3,819,309...3,848,075
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| G
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Tnf
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tumor necrosis factor
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ISO
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DNA:SNP:promoter:rs1800629 (human)
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RGD |
PMID:18716131 |
RGD:10450563 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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| G
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Mdfic
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MyoD family inhibitor domain containing
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ISO
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ClinVar Annotator: match by term: Lymphatic malformation 12
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OMIM
ClinVar |
PMID:25741868 PMID:35235341 |
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NCBI chrNW_004936589:3,838,064...3,925,029
Ensembl chrNW_004936589:3,838,064...3,925,029
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| G
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Thsd1
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thrombospondin type 1 domain containing 1
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ISO
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ClinVar Annotator: match by term: Lymphatic malformation 13
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OMIM
ClinVar |
PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 |
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NCBI chrNW_004936565:4,925,400...4,952,210
Ensembl chrNW_004936565:4,925,237...4,954,054
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| G
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Calcrl
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calcitonin receptor like receptor
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ISO
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OMIM |
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NCBI chrNW_004936506:10,191,789...10,292,355
Ensembl chrNW_004936506:10,249,687...10,292,424
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| G
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Apc
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APC regulator of WNT signaling pathway
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:27725143 |
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NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453
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| G
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Kit
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KIT proto-oncogene, receptor tyrosine kinase
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ISO
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MouseDO |
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NCBI chrNW_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274
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| G
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Tert
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telomerase reverse transcriptase
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ISO
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ClinVar Annotator: match by term: Macrocytic anemia
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ClinVar |
PMID:25741868 PMID:28099038 PMID:28492532 |
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NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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| G
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Lpin2
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lipin 2
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ISO
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ClinVar Annotator: match by term: Majeed syndrome
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OMIM
ClinVar |
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 PMID:16199547 PMID:17330256 PMID:17576681 PMID:18409191 PMID:19717560 PMID:20032092 PMID:20301735 PMID:20645851 PMID:23087183 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26386126 PMID:26764160 PMID:27860302 PMID:28492532 PMID:28600779 PMID:29387759 PMID:31598604 PMID:31727123 PMID:33314777 PMID:33670882 More...
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NCBI chrNW_004936672:1,550,865...1,606,268
Ensembl chrNW_004936672:1,568,732...1,602,931
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| G
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LOC101955076
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low affinity immunoglobulin gamma Fc region receptor III-A
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severity
susceptibility
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ISO
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DNA:polymorphism: :p.F176V (human)
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RGD |
PMID:20231419 PMID:23045477 |
RGD:11040771 RGD:11344971 |
NCBI chrNW_004937131:42,523...49,533
Ensembl chrNW_004937131:42,454...49,536
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| G
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Slc4a1
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solute carrier family 4 member 1 (Diego blood group)
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severity
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ISO
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DNA:snp:promoter:g.-5699T>C (human)
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RGD |
PMID:16960783 |
RGD:10450507 |
NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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| G
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Amn
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amnion associated transmembrane protein
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susceptibility
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ISO
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ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism
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RGD
ClinVar |
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17576681 PMID:21750092 PMID:22078000 PMID:22929189 PMID:24044590 PMID:25741868 PMID:26040326 PMID:28492532 PMID:30523278 PMID:32045704 More...
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RGD:1599101 |
NCBI chrNW_004936835:961,840...970,287
Ensembl chrNW_004936835:961,826...970,234
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| G
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Cubn
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cubilin
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ISO
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ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism
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ClinVar |
PMID:7573042 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17576681 PMID:17668238 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27197912 PMID:27766458 PMID:28204945 PMID:28492532 PMID:29402915 PMID:29801666 PMID:30220432 PMID:30547231 PMID:31308072 PMID:31497480 PMID:31613795 PMID:31630189 PMID:33226606 PMID:33532864 PMID:34426522 PMID:34610128 PMID:34979989 PMID:35460704 PMID:36112210 PMID:36891821 PMID:36926036 PMID:37312928 More...
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NCBI chrNW_004936520:10,140,784...10,410,082
Ensembl chrNW_004936520:10,140,784...10,409,851
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| G
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Dhfr
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dihydrofolate reductase
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21310276 PMID:21310277 |
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NCBI chrNW_004936469:67,962...83,116
Ensembl chrNW_004936469:61,990...83,553
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| G
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Maob
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monoamine oxidase B
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:7430361 |
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NCBI chrNW_004936502:9,907,181...10,014,756
Ensembl chrNW_004936502:9,907,180...10,014,773
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| G
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Slc19a2
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solute carrier family 19 member 2
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ISO
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RGD |
PMID:10391221 |
RGD:1599325 |
NCBI chrNW_004936481:17,197,133...17,225,435
Ensembl chrNW_004936481:17,197,095...17,227,891
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| G
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Tcn1
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transcobalamin 1
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:4627864 |
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NCBI chrNW_004936581:2,905,080...2,917,747
Ensembl chrNW_004936581:2,905,641...2,917,935
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| G
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Tcn2
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transcobalamin 2
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD
RGD |
PMID:4627864 PMID:7849710 |
RGD:1580450 |
NCBI chrNW_004936904:97,535...113,886
Ensembl chrNW_004936904:95,542...113,985
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| G
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Dhfr
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dihydrofolate reductase
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ISO
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ClinVar Annotator: match by term: DHFR DEFICIENCY | ClinVar Annotator: match by term: DHFR-related condition
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OMIM
ClinVar |
PMID:1060915 PMID:1099447 PMID:6700662 PMID:21310276 PMID:21310277 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 More...
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NCBI chrNW_004936469:67,962...83,116
Ensembl chrNW_004936469:61,990...83,553
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| G
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LOC101960314
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cytochrome b5
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ISO
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DNA:missense mutation:cds:p.S127P (human)
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RGD |
PMID:2107882 |
RGD:1599659 |
NCBI chrNW_004936616:4,176,576...4,210,276
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| G
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LOC101962805
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NADH-cytochrome b5 reductase 3
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ISO
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CTD Direct Evidence: marker/mechanism
DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G
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CTD
RGD |
PMID:11295830 PMID:16469290 |
RGD:1599771 |
NCBI chrNW_004936718:552,369...564,195
Ensembl chrNW_004936718:549,938...564,195
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| G
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LOC101969421
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cytochrome P450 1A2
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:12030840 |
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NCBI chrNW_004936471:33,704,616...33,709,455
Ensembl chrNW_004936471:33,703,792...33,709,484
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| G
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LOC101960314
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cytochrome b5
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ISO
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ClinVar Annotator: match by term: CYB5A-related condition | ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
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OMIM
ClinVar |
PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936616:4,176,576...4,210,276
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| G
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Clpb
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ClpB family mitochondrial disaggregase
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ISO
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ClinVar Annotator: match by term: Microcytic anemia
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ClinVar |
PMID:34140661 |
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NCBI chrNW_004936498:1,590,655...1,730,815
Ensembl chrNW_004936498:1,590,655...1,730,815
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| G
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Dnm2
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dynamin 2
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ISO
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OMIM:206200
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MouseDO |
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NCBI chrNW_004936659:957,408...1,046,393
Ensembl chrNW_004936659:957,392...1,049,188
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| G
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Tmprss6
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transmembrane serine protease 6
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ISO
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ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia | ClinVar Annotator: match by term: TMPRSS6-related condition
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OMIM
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18408718 PMID:18596229 PMID:19357398 PMID:19592582 PMID:19818657 PMID:20232450 PMID:20719010 PMID:21783390 PMID:23319530 PMID:24382527 PMID:25156943 PMID:25525159 PMID:25588876 PMID:25741868 PMID:25873000 PMID:27365303 PMID:27643674 PMID:28460265 PMID:28492532 PMID:29895660 PMID:30135444 PMID:32446932 PMID:32581362 More...
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NCBI chrNW_004936492:3,819,347...3,848,372
Ensembl chrNW_004936492:3,819,309...3,848,075
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| G
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Ammecr1
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AMMECR nuclear protein 1
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ISO
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ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
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OMIM
ClinVar |
PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 PMID:29174631 PMID:29193635 More...
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NCBI chrNW_004936499:4,910,687...5,023,252
Ensembl chrNW_004936499:4,910,686...5,023,293
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| G
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Slf2
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SMC5/6 complex localization factor 2
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ISO
|
ClinVar Annotator: match by term: Atelis syndrome 1
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OMIM
ClinVar |
PMID:36333305 |
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NCBI chrNW_004936600:4,715,504...4,766,273
Ensembl chrNW_004936600:4,721,327...4,765,915
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| G
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Samd9
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sterile alpha motif domain containing 9
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ISO
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ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome
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ClinVar |
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NCBI chrNW_004936803:765,839...782,176
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| G
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Samd9l
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sterile alpha motif domain containing 9 like
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ISO
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ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome
|
OMIM
ClinVar |
PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 PMID:28570036 PMID:29146883 PMID:29146900 PMID:29217778 PMID:30046003 PMID:30322869 PMID:31692161 PMID:33884299 PMID:34621053 PMID:35295078 PMID:35310830 PMID:39825153 More...
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NCBI chrNW_004936803:731,878...754,540
Ensembl chrNW_004936803:749,740...754,473
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| G
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Rbsn
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rabenosyn, RAB effector
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ISO
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ClinVar Annotator: match by term: Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities
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ClinVar
OMIM |
PMID:29784638 |
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NCBI chrNW_004936602:586,284...607,088
Ensembl chrNW_004936602:586,169...607,158
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| G
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Pus1
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pseudouridine synthase 1
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ISO
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ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
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ClinVar |
PMID:17056637 PMID:19731322 PMID:25058219 PMID:25741868 PMID:26556812 PMID:28492532 More...
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NCBI chrNW_004936660:2,192,583...2,199,645
Ensembl chrNW_004936660:2,192,651...2,199,602
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| G
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Yars2
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tyrosyl-tRNA synthetase 2
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ISO
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ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936607:3,565,333...3,590,499
Ensembl chrNW_004936607:3,565,295...3,574,846
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| G
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Pus1
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pseudouridine synthase 1
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ISO
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ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition
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OMIM
ClinVar |
PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 PMID:15971356 PMID:17056637 PMID:17576681 PMID:18648068 PMID:19731322 PMID:23707380 PMID:25058219 PMID:25227147 PMID:25741868 PMID:26556812 PMID:27374853 PMID:28492532 More...
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NCBI chrNW_004936660:2,192,583...2,199,645
Ensembl chrNW_004936660:2,192,651...2,199,602
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| G
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Yars2
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tyrosyl-tRNA synthetase 2
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ISO
|
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 | ClinVar Annotator: match by term: YARS2-related condition
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OMIM
ClinVar |
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 PMID:24344687 PMID:24430573 PMID:25638461 PMID:25741868 PMID:26633545 PMID:26944241 PMID:28492532 PMID:30026338 PMID:33144682 PMID:35393742 PMID:38703036 More...
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NCBI chrNW_004936607:3,565,333...3,590,499
Ensembl chrNW_004936607:3,565,295...3,574,846
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| G
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LOC101962805
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NADH-cytochrome b5 reductase 3
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|
ISO
|
ClinVar Annotator: match by term: CYB5R3-related condition | ClinVar Annotator: match by term: Hereditary methemoglobinemia | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, TYPE I | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, TYPE II | ClinVar Annotator: match by term: NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY
|
OMIM
ClinVar |
PMID:1159544 PMID:1400360 PMID:1707593 PMID:1898726 PMID:2107882 PMID:3680497 PMID:4063522 PMID:7668255 PMID:7718898 PMID:8427971 PMID:9266404 PMID:9536098 PMID:9695975 PMID:10807796 PMID:10874300 PMID:11159544 PMID:11295830 PMID:12393396 PMID:12756024 PMID:15111120 PMID:15921385 PMID:15953014 PMID:16310381 PMID:16469290 PMID:16748235 PMID:17576681 PMID:18318771 PMID:18343696 PMID:19062529 PMID:19997042 PMID:20784876 PMID:21328435 PMID:21349748 PMID:22627575 PMID:22850190 PMID:23866629 PMID:24033266 PMID:24266649 PMID:25058800 PMID:25741868 PMID:27879543 PMID:27922248 PMID:28492532 PMID:29482478 PMID:31898843 PMID:36984616 More...
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|
NCBI chrNW_004936718:552,369...564,195
Ensembl chrNW_004936718:549,938...564,195
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| G
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Sptb
|
spectrin beta, erythrocytic
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:9005995 |
|
NCBI chrNW_004936495:8,415,950...8,540,590
Ensembl chrNW_004936495:8,415,912...8,486,039
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| G
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Ireb2
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iron responsive element binding protein 2
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ISO
|
ClinVar Annotator: match by term: IREB2-related condition | ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
|
OMIM
ClinVar |
PMID:25741868 PMID:28492532 PMID:30915432 PMID:31243445 |
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NCBI chrNW_004936471:36,547,552...36,601,327
Ensembl chrNW_004936471:36,547,500...36,600,636
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| G
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Cftr
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CF transmembrane conductance regulator
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ISO
|
ClinVar Annotator: match by term: Fetal cystic hygroma
|
ClinVar |
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
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NCBI chrNW_004936589:1,565,933...1,719,208
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| G
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Lztr1
|
leucine zipper like post translational regulator 1
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ISO
|
ClinVar Annotator: match by term: Fetal cystic hygroma
|
ClinVar |
PMID:25741868 PMID:25795793 PMID:28492532 PMID:28973083 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31825158 More...
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NCBI chrNW_004936619:2,505,300...2,523,500
Ensembl chrNW_004936619:2,505,542...2,523,500
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| G
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Sos1
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SOS Ras/Rac guanine nucleotide exchange factor 1
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ISO
|
ClinVar Annotator: match by term: Nuchal bleb, familial
|
ClinVar |
PMID:17143285 PMID:17586837 PMID:20186801 PMID:20301303 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
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|
NCBI chrNW_004936508:12,162,553...12,281,812
Ensembl chrNW_004936508:12,162,547...12,281,820
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| G
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Slc4a1
|
solute carrier family 4 member 1 (Diego blood group)
|
|
ISO
|
ClinVar Annotator: match by term: Elliptocytosis 4 | ClinVar Annotator: match by term: Southeast Asian ovalocytosis
|
ClinVar |
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 PMID:6338046 PMID:7530501 PMID:7689982 PMID:7812009 PMID:7919393 PMID:7949112 PMID:8210309 PMID:8434259 PMID:8640229 PMID:8704215 PMID:8873423 PMID:8943874 PMID:9012689 PMID:9207478 PMID:9312167 PMID:9600966 PMID:9734643 PMID:9854053 PMID:10403343 PMID:10926824 PMID:10942416 PMID:11208088 PMID:11380459 PMID:11934690 PMID:12081559 PMID:12087557 PMID:12750988 PMID:12938018 PMID:14618420 PMID:14734552 PMID:16107207 PMID:16199547 PMID:16227998 PMID:16420521 PMID:17215882 PMID:17557941 PMID:17690931 PMID:18266205 PMID:18524859 PMID:19229254 PMID:19289107 PMID:19625994 PMID:20068363 PMID:20151848 PMID:20421175 PMID:20799361 PMID:22126643 PMID:22518001 PMID:22609520 PMID:23255290 PMID:23842529 PMID:24652967 PMID:25111073 PMID:25741868 PMID:26571219 PMID:27058983 PMID:27718309 PMID:28045035 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:28638614 PMID:29627839 PMID:29725771 PMID:29790872 PMID:30124986 PMID:30230413 PMID:31147440 PMID:31364155 PMID:31672324 PMID:31959358 PMID:32071839 PMID:32154456 PMID:32436265 PMID:32632909 PMID:32641076 PMID:32926342 PMID:33074480 PMID:33532864 PMID:34159584 PMID:34201899 PMID:34746046 PMID:35099593 PMID:35738466 PMID:35845192 PMID:37353797 PMID:38319988 PMID:357386466 More...
|
|
NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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|
|
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| G
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Rhag
|
Rh associated glycoprotein
|
|
ISO
|
ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis | ClinVar Annotator: match by term: RHAG-related condition
|
OMIM
ClinVar |
PMID:19831342 PMID:21859730 PMID:23967154 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936476:11,081,631...11,106,636
Ensembl chrNW_004936476:11,081,652...11,107,211
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|
|
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| G
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Csf3
|
colony stimulating factor 3
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:9051142 PMID:17505274 |
|
NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
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| G
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Dhfr
|
dihydrofolate reductase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21310276 |
|
NCBI chrNW_004936469:67,962...83,116
Ensembl chrNW_004936469:61,990...83,553
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|
| G
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Epas1
|
endothelial PAS domain protein 1
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|
ISO
|
|
RGD |
PMID:12750163 |
RGD:11041567 |
NCBI chrNW_004936508:5,855,748...5,938,879
Ensembl chrNW_004936508:5,855,732...5,938,856
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|
| G
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Epo
|
erythropoietin
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:9051142 |
|
NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343
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|
| G
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Fancc
|
FA complementation group C
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|
ISO
|
Low dose of mitomycin C 0.3mg/kg
|
RGD |
PMID:9531583 PMID:10627482 |
RGD:11045793 RGD:11045794 |
NCBI chrNW_004936626:3,980,311...4,147,042
Ensembl chrNW_004936626:3,982,647...4,159,976
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|
| G
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LOC101967543
|
DNA excision repair protein ERCC-6-like 2
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|
ISO
|
ClinVar Annotator: match by term: Pancytopenia
|
ClinVar |
PMID:25741868 PMID:29987015 |
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NCBI chrNW_004936487:33,082...60,819
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|
| G
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Mecom
|
MDS1 and EVI1 complex locus
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:27725143 |
|
NCBI chrNW_004936593:2,742,236...3,282,596
Ensembl chrNW_004936593:3,106,202...3,282,596
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|
| G
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Mocos
|
molybdenum cofactor sulfurase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:29935280 |
|
NCBI chrNW_004936517:9,059,042...9,105,304
Ensembl chrNW_004936517:9,055,805...9,105,357
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|
| G
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Nudt15
|
nudix hydrolase 15
|
|
ISO
|
|
MouseDO |
|
|
NCBI chrNW_004936565:1,380,981...1,389,908
Ensembl chrNW_004936565:1,381,655...1,389,048
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|
| G
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Prph2
|
peripherin 2
|
|
ISO
|
ClinVar Annotator: match by term: Pancytopenia
|
ClinVar |
PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410 PMID:16199547 PMID:16340530 PMID:16916875 PMID:17504850 PMID:25675413 PMID:25741868 PMID:26061163 PMID:27365499 PMID:28492532 PMID:29555955 PMID:29987015 PMID:34411390 More...
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|
NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981
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| G
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Rpl27a
|
ribosomal protein L27a
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21674502 |
|
NCBI chrNW_004936528:9,343,620...9,348,935
Ensembl chrNW_004936528:9,346,592...9,348,482
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| G
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Slc46a1
|
solute carrier family 46 member 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21346251 |
|
NCBI chrNW_004936538:4,549,032...4,642,870
Ensembl chrNW_004936538:4,549,599...4,555,415
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|
| G
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Tcn2
|
transcobalamin 2
|
|
ISO
|
ClinVar Annotator: match by term: Pancytopenia
|
ClinVar |
PMID:7980584 PMID:16199547 PMID:20352340 PMID:28492532 |
|
NCBI chrNW_004936904:97,535...113,886
Ensembl chrNW_004936904:95,542...113,985
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|
|
|
| G
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C3
|
complement C3
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|
ISO
|
protein:increased processing:erythrocyte
|
RGD |
PMID:6915939 |
RGD:11040769 |
NCBI chrNW_004936588:3,985,732...4,023,221
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|
| G
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C5
|
complement C5
|
|
ISO
|
ClinVar Annotator: match by term: Eculizumab, poor response to
|
OMIM
ClinVar |
PMID:7730648 PMID:19414197 PMID:23371790 PMID:24521109 PMID:25534848 PMID:25741868 PMID:27026170 PMID:28492532 More...
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|
NCBI chrNW_004936487:9,391,774...9,474,168
Ensembl chrNW_004936487:9,391,804...9,474,159
|
|
| G
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Cxcr4
|
C-X-C motif chemokine receptor 4
|
treatment
|
ISO
|
|
RGD |
PMID:22206707 |
RGD:11352266 |
NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459
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| G
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Piga
|
phosphatidylinositol glycan anchor biosynthesis class A
|
|
ISO
|
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria
|
ClinVar |
PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 PMID:9233558 PMID:9787183 PMID:10220445 More...
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|
NCBI chrNW_004936470:4,730,955...4,746,958
Ensembl chrNW_004936470:4,730,961...4,746,985
|
|
| G
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Pigt
|
phosphatidylinositol glycan anchor biosynthesis class T
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25417052 |
|
NCBI chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199
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|
|
|
| G
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Piga
|
phosphatidylinositol glycan anchor biosynthesis class A
|
|
ISO
|
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
|
OMIM
ClinVar |
PMID:2915993 PMID:24706016 PMID:25741868 PMID:28492532 PMID:29159939 PMID:29656098 PMID:31704190 PMID:32176464 PMID:32452540 PMID:34355501 More...
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|
NCBI chrNW_004936470:4,730,955...4,746,958
Ensembl chrNW_004936470:4,730,961...4,746,985
|
|
| G
|
Pigt
|
phosphatidylinositol glycan anchor biosynthesis class T
|
|
ISO
|
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199
|
|
|
|
| G
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Pigt
|
phosphatidylinositol glycan anchor biosynthesis class T
|
|
ISO
|
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2
|
OMIM
ClinVar |
PMID:23733340 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199
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|
|
|
| G
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Cblif
|
cobalamin binding intrinsic factor
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|
ISO
|
|
RGD |
PMID:167441 PMID:4434116 |
RGD:11049584 RGD:11049587 |
NCBI chrNW_004936581:2,919,793...2,933,743
Ensembl chrNW_004936581:2,920,355...2,933,403
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|
|
|
| G
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Hamp
|
hepcidin antimicrobial peptide
|
|
ISO
|
mRNA:increased expression:liver
|
RGD |
PMID:25580431 |
RGD:11041717 |
NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686
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|
|
|
| G
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Ahcy
|
adenosylhomocysteinase
|
|
ISO
|
|
RGD |
PMID:11575573 |
RGD:1598897 |
NCBI chrNW_004936561:6,314,797...6,333,961
Ensembl chrNW_004936561:6,314,705...6,334,439
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|
|
|
| G
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Birc5
|
baculoviral IAP repeat containing 5
|
|
ISO
|
|
RGD |
PMID:18426652 |
RGD:11038658 |
NCBI chrNW_004936594:2,812,165...2,820,618
Ensembl chrNW_004936594:2,812,238...2,820,636
|
|
| G
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Flt3lg
|
fms related receptor tyrosine kinase 3 ligand
|
|
ISO
|
protein:increased expression:serum:
|
RGD |
PMID:10214861 |
RGD:11049479 |
NCBI chrNW_004936664:3,343,541...3,351,590
Ensembl chrNW_004936664:3,343,491...3,350,176
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|
| G
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Hfe
|
homeostatic iron regulator
|
no_association
|
ISO
|
associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)
associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)
|
RGD |
PMID:17654685 |
RGD:10755539 |
NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580
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|
| G
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Tcn2
|
transcobalamin 2
|
|
ISO
|
protein:increased expression::
|
RGD |
PMID:1059479 |
RGD:11060122 |
NCBI chrNW_004936904:97,535...113,886
Ensembl chrNW_004936904:95,542...113,985
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|
| G
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Tert
|
telomerase reverse transcriptase
|
|
ISO
|
|
RGD |
PMID:18426652 |
RGD:11038658 |
NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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|
| G
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Tnf
|
tumor necrosis factor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:10870480 |
|
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
|
|
| G
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Ybx1
|
Y-box binding protein 1
|
|
ISO
|
|
RGD |
PMID:14604279 |
RGD:1580637 |
NCBI chrNW_004936474:24,026,459...24,047,724
Ensembl chrNW_004936474:24,026,377...24,047,724
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|
|
|
| G
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Birc5
|
baculoviral IAP repeat containing 5
|
|
ISO
|
|
RGD |
PMID:18426652 |
RGD:11038658 |
NCBI chrNW_004936594:2,812,165...2,820,618
Ensembl chrNW_004936594:2,812,238...2,820,636
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|
| G
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C3
|
complement C3
|
disease_progression
|
ISO
|
|
RGD |
PMID:9741227 |
RGD:11041158 |
NCBI chrNW_004936588:3,985,732...4,023,221
|
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| G
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Cfb
|
complement factor B
|
disease_progression
|
ISO
|
|
RGD |
PMID:9741227 |
RGD:11041158 |
NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215
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| G
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Tert
|
telomerase reverse transcriptase
|
|
ISO
|
|
RGD |
PMID:18426652 |
RGD:11038658 |
NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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|
| G
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Tet2
|
tet methylcytosine dioxygenase 2
|
disease_progression
|
ISO
|
|
RGD |
PMID:25200248 |
RGD:11038682 |
NCBI chrNW_004936752:440,137...577,339
Ensembl chrNW_004936752:440,136...577,615
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|
|
|
| G
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Rhag
|
Rh associated glycoprotein
|
|
ISO
|
ClinVar Annotator: match by term: Rh-null, regulator type
|
OMIM
ClinVar |
PMID:9442063 PMID:10467273 PMID:25741868 PMID:28492532 PMID:32036089 PMID:36093570 More...
|
|
NCBI chrNW_004936476:11,081,631...11,106,636
Ensembl chrNW_004936476:11,081,652...11,107,211
|
|
|
|
| G
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Rhce
|
Rh blood group CcEe antigens
|
|
ISO
|
ClinVar Annotator: match by term: RH-NULL, AMORPH TYPE
|
OMIM
ClinVar |
PMID:1503086 PMID:9657766 PMID:16271106 PMID:25413218 |
|
NCBI chrNW_004936474:10,036,478...10,074,332
Ensembl chrNW_004936474:10,041,431...10,074,332
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|
|
|
| G
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Alad
|
aminolevulinate dehydratase
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|
ISO
|
protein:increased activity:erythrocyte
|
RGD |
PMID:900140 |
RGD:12904674 |
NCBI chrNW_004936559:226,481...237,258
Ensembl chrNW_004936559:226,424...241,684
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|
| G
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Apob
|
apolipoprotein B
|
treatment
|
ISO
|
|
RGD |
PMID:24035168 |
RGD:11354943 |
NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144
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|
| G
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Bcl11a
|
BCL11 transcription factor A
|
treatment
severity
|
ISO
|
DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)
|
RGD |
PMID:18667698 PMID:21998251 PMID:22360576 |
RGD:11099970 RGD:11099996 RGD:11100007 |
NCBI chrNW_004936491:6,021,340...6,118,103
Ensembl chrNW_004936491:6,021,343...6,118,568
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|
| G
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C3
|
complement C3
|
severity
|
ISO
|
protein:increased processing
|
RGD |
PMID:3896597 PMID:7554454 |
RGD:11040773 RGD:11040777 |
NCBI chrNW_004936588:3,985,732...4,023,221
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| G
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Cad
|
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:38827 |
|
NCBI chrNW_004936493:5,308,268...5,332,934
Ensembl chrNW_004936493:5,310,228...5,332,918
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|
| G
|
Cd36
|
CD36 molecule (CD36 blood group)
|
treatment
|
ISO
|
protein:increased expression:erythrocyte
|
RGD |
PMID:18322255 PMID:20015873 |
RGD:11041114 RGD:6893506 |
NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365
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|
| G
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Cd40lg
|
CD40 ligand
|
|
ISO
|
protein:increased expression:plasma (human)
|
RGD |
PMID:24368019 |
RGD:11352270 |
NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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|
| G
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Cfb
|
complement factor B
|
|
ISO
|
protein:decreased activity
|
RGD |
PMID:10440069 PMID:12793071 |
RGD:11041159 RGD:11041160 |
NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215
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|
| G
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Dhodh
|
dihydroorotate dehydrogenase (quinone)
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:38827 |
|
NCBI chrNW_004936475:21,863,627...21,877,660
Ensembl chrNW_004936475:21,862,166...21,877,711
|
|
| G
|
F2
|
coagulation factor II, thrombin
|
disease_progression
|
ISO
|
protein:increased expression:plasma:
|
RGD |
PMID:8191393 PMID:26286849 |
RGD:11565074 RGD:11565080 |
NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650
|
|
| G
|
F3
|
coagulation factor III, tissue factor
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:15795541 |
RGD:11341683 |
NCBI chrNW_004936537:4,637,028...4,647,915
Ensembl chrNW_004936537:4,636,667...4,647,916
|
|
| G
|
Gch1
|
GTP cyclohydrolase 1
|
sexual_dimorphism
|
ISO
|
DNA:SNP, haplotype:rs8007267 (human)
|
RGD |
PMID:24136375 |
RGD:329961567 |
NCBI chrNW_004936697:232,048...275,420
Ensembl chrNW_004936697:232,198...273,389
|
|
| G
|
Gpx1
|
glutathione peroxidase 1
|
treatment
|
ISO
|
protein:decreased expression:penis
|
RGD |
PMID:19951064 PMID:20846340 PMID:22620981 |
RGD:11352756 RGD:11352757 RGD:11352775 |
NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
|
|
| G
|
Gsr
|
glutathione-disulfide reductase
|
|
ISO
|
protein:increased activity:erythrocyte:
|
RGD |
PMID:14717789 |
RGD:11059503 |
NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166
|
|
| G
|
Hbe1
|
hemoglobin subunit epsilon 1
|
treatment
|
ISO
|
DNA:SNP: :rs7130110 (human)
|
RGD |
PMID:12124399 PMID:23409025 |
RGD:11353858 RGD:11353860 |
NCBI chrNW_004937116:173,006...174,535
Ensembl chrNW_004937116:172,988...174,542
|
|
| G
|
Hk1
|
hexokinase 1
|
|
ISO
|
protein:alternative form:erythrocyte
|
RGD |
PMID:5686464 |
RGD:11353884 |
NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793
|
|
| G
|
Hmbs
|
hydroxymethylbilane synthase
|
|
ISO
|
protein:increased activity:erythrocyte
|
RGD |
PMID:900140 |
RGD:12904674 |
NCBI chrNW_004936542:4,037,888...4,046,089
Ensembl chrNW_004936542:4,037,201...4,050,810
|
|
| G
|
Hmox1
|
heme oxygenase 1
|
treatment
|
ISO
|
|
RGD |
PMID:11238038 PMID:20306336 |
RGD:10755563 RGD:10755565 |
NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
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|
| G
|
Il10
|
interleukin 10
|
treatment
|
ISO
|
|
RGD |
PMID:24281564 |
RGD:11046271 |
NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
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|
| G
|
Il5
|
interleukin 5
|
|
ISO
|
protein:increased expression:respiratory system fluid/secretion
|
RGD |
PMID:25843670 |
RGD:11354938 |
NCBI chrNW_004936647:2,647,982...2,651,477
Ensembl chrNW_004936647:2,648,241...2,651,430
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|
| G
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LOC101976500
|
haptoglobin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16597321 |
|
NCBI chrNW_004936475:21,841,054...21,845,821
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|
| G
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Mdm2
|
MDM2 proto-oncogene
|
|
ISO
|
|
RGD |
PMID:21085184 |
RGD:10412315 |
NCBI chrNW_004936545:6,709,903...6,732,334
Ensembl chrNW_004936545:6,710,171...6,734,522
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|
| G
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Mthfr
|
methylenetetrahydrofolate reductase
|
no_association
severity
|
ISO
|
DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)
|
RGD |
PMID:20113291 PMID:22924497 |
RGD:10449403 RGD:10449420 |
NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
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|
| G
|
Nfe2l2
|
NFE2 like bZIP transcription factor 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:29255069 |
|
NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262
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|
| G
|
Nos3
|
nitric oxide synthase 3
|
severity
|
ISO
|
DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human)
|
RGD |
PMID:24088668 |
RGD:11533647 |
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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|
| G
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Nppb
|
natriuretic peptide B
|
severity
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
RGD
CTD |
PMID:20408845 PMID:21689089 |
RGD:5685653 |
NCBI chrNW_004936474:683,325...684,662
Ensembl chrNW_004936474:683,325...684,665
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|
| G
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Pecam1
|
platelet and endothelial cell adhesion molecule 1
|
severity
|
ISO
|
protein:increased expression:serum (human)
|
RGD |
PMID:20306667 |
RGD:11541101 |
NCBI chrNW_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500
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|
| G
|
Pgf
|
placental growth factor
|
|
ISO
|
protein:increased expression:plasma
|
RGD |
PMID:20040765 |
RGD:6483588 |
NCBI chrNW_004936488:4,098,187...4,111,108
Ensembl chrNW_004936488:4,098,225...4,111,142
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|
| G
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Pon1
|
paraoxonase 1
|
|
ISO
|
protein:decreased activity: serum (human)
|
RGD |
PMID:24508012 |
RGD:11553835 |
NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591
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| G
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Selp
|
selectin P
|
|
ISO
|
|
RGD |
PMID:21071696 |
RGD:6219007 |
NCBI chrNW_004936481:17,076,660...17,112,501
Ensembl chrNW_004936481:17,076,536...17,107,963
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|
| G
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Spta1
|
spectrin alpha, erythrocytic 1
|
|
ISO
|
OMIM:603903
|
MouseDO |
|
|
NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
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|
| G
|
Tgfb1
|
transforming growth factor beta 1
|
|
ISO
|
protein:increased expression:plasma:
|
RGD |
PMID:26928604 |
RGD:11062147 |
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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|
| G
|
Tnf
|
tumor necrosis factor
|
|
ISO
|
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
|
RGD
CTD |
PMID:8140855 PMID:14965870 |
RGD:10449460 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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|
| G
|
Umps
|
uridine monophosphate synthetase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:38827 |
|
NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141
|
|
| G
|
Vcam1
|
vascular cell adhesion molecule 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16916123 |
|
NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048
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|
|
|
| G
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Serpinf1
|
serpin family F member 1
|
|
ISO
|
protein:increased expression:retinal blood vessels (human)
|
RGD |
PMID:12957143 |
RGD:8554869 |
NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113
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|
|
|
| G
|
LOC101976500
|
haptoglobin
|
|
ISO
|
|
RGD |
PMID:19023114 PMID:21595649 |
RGD:5147416 RGD:5147440 |
NCBI chrNW_004936475:21,841,054...21,845,821
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|
|
|
| G
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Abcb7
|
ATP binding cassette subfamily B member 7
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
RGD
CTD |
PMID:16892088 PMID:18398482 PMID:18637800 |
RGD:11038732 |
NCBI chrNW_004936683:1,224,703...1,326,761
Ensembl chrNW_004936683:1,222,450...1,326,765
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|
| G
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Alad
|
aminolevulinate dehydratase
|
|
ISO
|
protein:decreased activity:kidney, liver, spleen
|
RGD |
PMID:5891055 |
RGD:12904678 |
NCBI chrNW_004936559:226,481...237,258
Ensembl chrNW_004936559:226,424...241,684
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|
| G
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Alas2
|
5'-aminolevulinate synthase 2
|
susceptibility
|
ISO
|
DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism
|
RGD
CTD |
PMID:7949148 PMID:16716198 PMID:16892088 |
RGD:1599037 |
NCBI chrNW_004936751:1,818,255...1,841,028
Ensembl chrNW_004936751:1,814,446...1,841,531
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|
| G
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Calr
|
calreticulin
|
|
ISO
|
DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)
|
RGD |
PMID:24325359 |
RGD:11352763 |
NCBI chrNW_004936659:1,994,695...1,999,070
Ensembl chrNW_004936659:1,994,648...1,999,430
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|
| G
|
Gdf15
|
growth differentiation factor 15
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19036111 |
|
NCBI chrNW_004936596:2,854,620...2,857,018
Ensembl chrNW_004936596:2,854,841...2,857,111
|
|
| G
|
Hspa9
|
heat shock protein family A (Hsp70) member 9
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
|
|
NCBI chrNW_004936531:7,702,186...7,716,428
Ensembl chrNW_004936531:7,702,695...7,716,380
|
|
| G
|
Pus1
|
pseudouridine synthase 1
|
|
ISO
|
ClinVar Annotator: match by term: Sideroblastic anemia
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936660:2,192,583...2,199,645
Ensembl chrNW_004936660:2,192,651...2,199,602
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|
| G
|
Slc25a38
|
solute carrier family 25 member 38
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19412178 |
|
NCBI chrNW_004936473:28,602,920...28,621,024
Ensembl chrNW_004936473:28,603,445...28,621,355
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|
| G
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Sod2
|
superoxide dismutase 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16910769 PMID:21326867 |
|
NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
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|
| G
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Tfrc
|
transferrin receptor
|
|
ISO
|
mRNA,protein:increased expression:erythroblast:
|
RGD |
PMID:21326867 |
RGD:11062136 |
NCBI chrNW_004936784:696,738...728,385
Ensembl chrNW_004936784:696,713...728,543
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|
|
|
| G
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Alas2
|
5'-aminolevulinate synthase 2
|
onset
|
ISO
|
ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory
DNA:mutations:exons:p.K299Q,A172T(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
|
OMIM
ClinVar
RGD |
PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 PMID:9488633 PMID:9858242 PMID:10029606 PMID:10444183 PMID:11110715 PMID:12031592 PMID:12531813 PMID:16121195 PMID:16446107 PMID:20848343 PMID:21309041 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23263862 PMID:23409301 PMID:24166784 PMID:25741868 PMID:28492532 PMID:28840292 PMID:30678654 PMID:31338833 PMID:32297424 PMID:34781359 PMID:35093382 PMID:36135330 More...
|
RGD:11035241 RGD:11035243 |
NCBI chrNW_004936751:1,818,255...1,841,028
Ensembl chrNW_004936751:1,814,446...1,841,531
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|
| G
|
Slc25a38
|
solute carrier family 25 member 38
|
|
ISO
|
ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936473:28,602,920...28,621,024
Ensembl chrNW_004936473:28,603,445...28,621,355
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|
|
|
| G
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Hscb
|
HscB mitochondrial iron-sulfur cluster cochaperone
|
|
ISO
|
ClinVar Annotator: match by term: Anemia, sideroblastic, 5
|
OMIM
ClinVar |
PMID:25741868 PMID:32634119 |
|
NCBI chrNW_004936657:2,848,282...2,860,115
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|
|
|
| G
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Trnt1
|
tRNA nucleotidyl transferase 1
|
|
ISO
|
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
|
OMIM
ClinVar |
PMID:2649490 PMID:3333257 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25193871 PMID:25652405 PMID:25741868 PMID:26494905 PMID:27317422 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28390992 PMID:28492532 PMID:28600779 PMID:29055896 PMID:29358286 PMID:29454993 PMID:29610179 PMID:30758723 PMID:31019026 PMID:31338833 PMID:31664448 PMID:31980526 PMID:32371413 PMID:32592741 PMID:33332575 PMID:33493307 PMID:33646446 PMID:33936027 PMID:34510712 PMID:35984545 PMID:36729249 More...
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|
NCBI chrNW_004936577:2,814,464...2,834,068
Ensembl chrNW_004936577:2,814,390...2,832,790
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|
|
|
| G
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Il1b
|
interleukin 1 beta
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:11732868 |
RGD:10450569 |
NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
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|
| G
|
Ppp1r15a
|
protein phosphatase 1 regulatory subunit 15A
|
|
ISO
|
|
MouseDO |
|
|
NCBI chrNW_004936664:2,910,609...2,914,205
|
|
| G
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Tnf
|
tumor necrosis factor
|
|
ISO
|
protein:increased expression:serum
|
RGD |
PMID:11732868 |
RGD:10450569 |
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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|
|
|
| G
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Slc19a2
|
solute carrier family 19 member 2
|
|
ISO
|
ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: SLC19A2-related condition | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia
|
OMIM
ClinVar |
PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 PMID:10874303 PMID:10978358 PMID:12065289 PMID:12435857 PMID:14994241 PMID:16199547 PMID:17132746 PMID:17331069 PMID:17463047 PMID:18414213 PMID:19643445 PMID:23638917 PMID:23771172 PMID:24355766 PMID:25741868 PMID:25878670 PMID:26467025 PMID:28004468 PMID:28492532 PMID:29450569 PMID:33409956 PMID:33649974 PMID:33816400 More...
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|
NCBI chrNW_004936481:17,197,133...17,225,435
Ensembl chrNW_004936481:17,197,095...17,227,891
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|
|
|
| G
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Mpig6b
|
megakaryocyte and platelet inhibitory receptor G6b
|
|
ISO
|
ClinVar Annotator: match by term: MPIG6B-related condition | ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis
|
OMIM
ClinVar |
PMID:23112346 PMID:25741868 PMID:27743390 PMID:28492532 |
|
NCBI chrNW_004936727:1,808,317...1,811,058
Ensembl chrNW_004936727:1,809,407...1,811,058
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|
|
|
| G
|
Tpi1
|
triosephosphate isomerase 1
|
|
ISO
|
ClinVar Annotator: match by term: Triosephosphate isomerase deficiency
|
OMIM
ClinVar |
PMID:2876430 PMID:7485100 PMID:7628118 PMID:8244340 PMID:8503454 PMID:8571957 PMID:8579052 PMID:9338582 PMID:9536098 PMID:9842650 PMID:10209987 PMID:10910933 PMID:11196750 PMID:11698297 PMID:17183658 PMID:17576681 PMID:18562316 PMID:20374271 PMID:24033266 PMID:24056040 PMID:24192681 PMID:24840153 PMID:25741868 PMID:26863999 PMID:27717089 PMID:28492532 PMID:32873690 More...
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|
NCBI chrNW_004936709:948,151...951,430
Ensembl chrNW_004936709:945,201...951,441
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|
|
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| G
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Nos3
|
nitric oxide synthase 3
|
susceptibility
|
ISO
|
associated with Anemia, Sickle Cell;DNA:repeats:intron:
|
RGD |
PMID:25263931 |
RGD:11533931 |
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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|
| G
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Pde9a
|
phosphodiesterase 9A
|
treatment
|
ISO
|
|
RGD |
PMID:22833547 |
RGD:242905184 |
NCBI chrNW_004936500:1,201,843...1,266,818
Ensembl chrNW_004936500:1,203,437...1,267,095
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|
| G
|
Slc4a1
|
solute carrier family 4 member 1 (Diego blood group)
|
|
ISO
|
|
RGD |
PMID:23643401 |
RGD:11100023 |
NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
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|
|
|
| G
|
Atp11c
|
ATPase phospholipid transporting 11C
|
|
ISO
|
ClinVar Annotator: match by term: ATP11C-related condition | ClinVar Annotator: match by term: X-linked congenital hemolytic anemia
|
OMIM
ClinVar |
PMID:25741868 PMID:26944472 PMID:28492532 |
|
NCBI chrNW_004936513:7,701,733...7,889,753
Ensembl chrNW_004936513:7,701,725...7,889,750
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|
|
|
| G
|
Gata1
|
GATA binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
|
OMIM
ClinVar |
PMID:871527 PMID:9536098 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16199547 PMID:16783379 PMID:16783397 PMID:17148589 PMID:17209061 PMID:17576681 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 PMID:24056718 PMID:24196768 PMID:24453067 PMID:24766296 PMID:24952648 PMID:25251786 PMID:25615715 PMID:25741868 PMID:27353457 PMID:28492532 PMID:29146883 PMID:30503522 PMID:31606922 PMID:32681702 PMID:33611093 PMID:37858167 More...
|
|
NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768
|
|
|
|
| G
|
Abcb7
|
ATP binding cassette subfamily B member 7
|
susceptibility
|
ISO
|
ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
DNA:missense mutation: :p.I400M (human)
|
OMIM
ClinVar
RGD |
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 PMID:11843825 PMID:17576681 PMID:22398176 PMID:25326637 PMID:25741868 PMID:28492532 PMID:34354969 More...
|
RGD:1598600 |
NCBI chrNW_004936683:1,224,703...1,326,761
Ensembl chrNW_004936683:1,222,450...1,326,765
|
|
|
|
| G
|
Gata1
|
GATA binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
|
OMIM
ClinVar |
PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:22706301 PMID:23704091 PMID:24453067 PMID:25251786 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768
|
|
|
|
| G
|
Gata1
|
GATA binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia
|
OMIM
ClinVar |
PMID:871527 PMID:3164080 PMID:9536098 PMID:10700180 PMID:11418466 PMID:11809723 PMID:12200364 PMID:12483298 PMID:14691578 PMID:15895080 PMID:16199547 PMID:16783379 PMID:16783397 PMID:17148589 PMID:17209061 PMID:17576681 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23278136 PMID:23704091 PMID:23971719 PMID:24056718 PMID:24196768 PMID:24453067 PMID:24728327 PMID:24766296 PMID:24952648 PMID:25251786 PMID:25615715 PMID:25741868 PMID:27353457 PMID:28492532 PMID:29146883 PMID:30503522 PMID:31064749 PMID:31606922 PMID:31652397 PMID:32581362 PMID:32681702 PMID:33611093 PMID:35030251 PMID:36231035 PMID:37858167 PMID:38103590 More...
|
|
NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768
|
|
| G
|
Zrsr2
|
zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2
|
|
ISO
|
DNA:missense mutation:multiple (human)
|
RGD |
PMID:28942350 |
RGD:151232291 |
NCBI chrNW_004936470:5,233,798...5,258,266
Ensembl chrNW_004936470:5,233,740...5,258,266
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