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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:anemia
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Accession:DOID:2355 term browser browse the term
Definition:A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. (DO)
Synonyms:exact_synonym: anaemia;   anemias
 narrow_synonym: anemia due to enzyme disorder
 related_synonym: HEMOGLOBIN ALESHA;   HEMOGLOBIN HINSDALE
 primary_id: MESH:D000740
 xref: EFO:0004272;   EFO:0009529;   ICD10CM:D64.9;   ICD9CM:285.9;   NCI:C2869
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I 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 chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31170385 NCBI chr12:25,042,882...25,050,608
Ensembl chr12:25,043,461...25,050,410 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:3524928 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Alad aminolevulinate dehydratase IDA associated with Trypanosomiasis;protein:increased activity:erythrocyte RGD PMID:21854703 RGD:12904694 NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:80,977,562...80,988,041 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 IEP mRNA:decreased expression:liver: RGD PMID:21296123 RGD:10449049 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:22,890,689...22,914,043 		JBrowse link
G Ank1 ankyrin 1 severity ISO associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns:
ClinVar Annotator: match by term: Anemia 		ClinVar
RGD		 PMID:25741868 PMID:11372755 RGD:11251706 NCBI chr16:75,578,824...75,757,464
Ensembl chr16:75,578,824...75,757,464 		JBrowse link
G Apc APC regulator of WNT signaling pathway IMP RGD PMID:17360473 RGD:1601201 NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
G ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon IMP RGD PMID:17360473 RGD:1601201
G Apoa4 apolipoprotein A4 ISO associated with Inflammation; protein:increased expression:blood plasma (mouse) RGD PMID:22146476 RGD:5685688 NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:55,434,168...55,438,164 		JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:136,997,832...137,017,417
Ensembl chr 6:136,998,023...137,017,417 		JBrowse link
G Atg5 autophagy related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr20:49,380,835...49,471,826
Ensembl chr20:49,380,813...49,471,821 		JBrowse link
G Atg7 autophagy related 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:149,391,390...149,598,319 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23776592 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G Bmp6 bone morphogenetic protein 6 IEP mRNA,protein:decreased expression:liver RGD PMID:21859731 RGD:7242407 NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,523,704...26,675,261 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO associated with Colonic Neoplasms RGD PMID:24963216 RGD:11528557 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255017 NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:31,601,192...31,781,701 		JBrowse link
G Clec11a C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19884328 NCBI chr 1:103,938,029...103,941,170
Ensembl chr 1:103,935,185...103,946,784 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8297739 PMID:11732872 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12085204 PMID:16076697 PMID:17047649 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:12522253 RGD:11251731 NCBI chr  X:157,751,651...157,757,796
Ensembl chr  Y:380,743...385,405
Ensembl chr  X:380,743...385,405 		JBrowse link
G Ephx1 epoxide hydrolase 1 treatment ISO associated with Ovarian Neoplasms RGD PMID:24533712 RGD:11097078 NCBI chr13:95,246,079...95,275,852
Ensembl chr13:95,246,080...95,321,981 		JBrowse link
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 		CTD
RGD		 PMID:1516988 PMID:1574960 PMID:1893952 PMID:1982298 PMID:2186273 More... RGD:2313896, RGD:2313843 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Epor erythropoietin receptor susceptibility ISO associated with Lupus Erythematosus, Systemic; RGD PMID:23080113 PMID:9808048 RGD:11041607, RGD:11041637 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:28,765,746...28,770,322 		JBrowse link
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 chr 1:88,099,308...88,135,966
Ensembl chr 1:88,118,891...88,139,120 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment ISO associated with Malaria, Falciparum;DNA:SNPs: :rs1050828, rs1050829 (human)
associated with Kidney Failure, Chronic 		RGD PMID:25940869 PMID:24934404 PMID:25261071 RGD:10449105, RGD:10449114, RGD:10449108 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:32581362 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Anemia ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:22996665 RGD:11049511 NCBI chr 4:122,211,501...122,225,058
Ensembl chr 4:122,211,829...122,225,055 		JBrowse link
G Gdf15 growth differentiation factor 15 treatment ISO associated with Multiple Myeloma RGD PMID:25052873 RGD:11041612 NCBI chr16:18,838,436...18,842,022
Ensembl chr16:18,838,436...18,842,022 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:11895216 RGD:11352732 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IDA
ISO 		associated with Kidney Failure, Chronic RGD PMID:21422078 PMID:8939405 RGD:11352776, RGD:11352778 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:5984971 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO associated with kidney transplantation; RGD PMID:19096080 RGD:10450867 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO
IEP
IMP
IDA 		associated with Multiple Myeloma
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
associated with Malaria, Falciparum
associated with Inflammation 		CTD
RGD		 PMID:16434484 PMID:16627556 PMID:24086573 PMID:25052873 PMID:21411831 More... RGD:11041612, RGD:11041773, RGD:11041620, RGD:11041619, RGD:11041618, RGD:11041614 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:5639009 PMID:7558871 PMID:25741868 NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,828,377...15,829,141 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:5639009 PMID:7558871 PMID:25741868 NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,816,096...15,817,167 		JBrowse link
G Hbb hemoglobin subunit beta IEP
ISO 		ClinVar Annotator: match by term: Anemia | ClinVar Annotator: match by term: HEMOGLOBIN ALESHA | ClinVar Annotator: match by term: HEMOGLOBIN HINSDALE ClinVar
RGD		 PMID:1347969 PMID:1693293 PMID:1960615 PMID:2442092 PMID:3031297 More... RGD:10449049 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:1347969 PMID:1693293 PMID:2442092 PMID:4625560 PMID:5660684 More... NCBI chr 1:167,636,064...167,643,577 JBrowse link
G Hk1 hexokinase 1 ISO DNA:SNP: :rs7072268 (human) RGD PMID:19651813 RGD:11353879 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16637741 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:12090760 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Il10 interleukin 10 severity ISO associated with Malaria;protein:decreased expression:plasma RGD PMID:9635949 RGD:11049182 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il1b interleukin 1 beta ISO associated with Arthritis, Rheumatoid;protein:increased expression:serum RGD PMID:3264697 RGD:10450886 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7678812 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672 		JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 PMID:12090760 NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,906,460...38,908,810 		JBrowse link
G Il6 interleukin 6 ISO associated with Inflammation
associated with Colonic Neoplasms;protein:increased expression:serum (mouse) 		RGD PMID:24357729 PMID:19265263 RGD:11041614, RGD:11060277 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Ireb2 iron responsive element binding protein 2 treatment IEP
IDA 		mRNA:decreased expression:brain (rat) RGD PMID:27602087 PMID:26584806 RGD:12903962, RGD:12903965 NCBI chr 8:64,124,152...64,207,702
Ensembl chr 8:64,154,945...64,205,520 		JBrowse link
G Itpa inosine triphosphatase treatment ISO associated with Hepatitis C, Chronic:DNA:SNPs: :rs7270101, rs1127354 (human)
associated with Hepatitis C, Chronic:DNA:SNP: :rs1127354 (human) 		RGD PMID:26154744 PMID:22571903 RGD:11074414, RGD:14975306 NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:138,338,349...138,350,329 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:9590174 RGD:737719 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma; DNA:SNP:: rs1801133(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:19391036 PMID:25007187 PMID:25007187 RGD:11080979 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ameliorates ISO RGD PMID:17615359 RGD:150519908 NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:127,952,161...127,956,230 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:32581362 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:25741868 NCBI chr14:81,057,727...81,135,866
Ensembl chr14:81,057,727...81,123,027 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 1:165,906,405...166,003,366
Ensembl chr 1:165,906,405...166,003,366 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:94,839,433...94,871,567 		JBrowse link
G Pon1 paraoxonase 1 severity
treatment 		ISO associated with Gastrointestinal Neoplasms;protein:decreased activity:serum (human)
associated with Renal Insufficiency, Chronic 		RGD PMID:18423402 PMID:17324148 RGD:11552571, RGD:11552579 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:10340396 NCBI chr17:38,287,355...38,298,234
Ensembl chr17:38,288,162...38,298,217 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:15354979 PMID:19578808 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3524928 NCBI chr13:47,348,312...47,359,539
Ensembl chr13:47,348,143...47,359,543 		JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:32581362 NCBI chr 5:153,557,592...153,561,230
Ensembl chr 5:153,557,597...153,561,127 		JBrowse link
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:32581362 NCBI chr 7:1,641,846...1,643,404
Ensembl chr 7:1,641,421...1,643,399 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO associated with Restless leg syndrome: DNA:SNPs:introns: RGD PMID:17510944 RGD:5688718 NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941 		JBrowse link
G Slc25a37 solute carrier family 25 member 37 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22253756 NCBI chr15:50,944,085...50,986,506
Ensembl chr15:50,946,236...50,986,808 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16434484 NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460 		JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21346251 NCBI chr10:63,859,551...63,865,987
Ensembl chr10:63,859,504...63,866,869 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20800516 PMID:8790408 RGD:1581262 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:25741868 PMID:31038472 PMID:31723846 PMID:32581362 NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Anemia ClinVar PMID:25741868 NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		JBrowse link
G Tf transferrin treatment ISO
IEP 		associated with Heart Failure
associated with Trypanosomiasis;protein:increased expression:serum 		RGD PMID:23680589 PMID:23270806 RGD:7244154, RGD:7244377 NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:112,647,642...112,695,400 		JBrowse link
G Thoc5 THO complex subunit 5 ISO RGD PMID:20051105 RGD:2317224 NCBI chr14:83,982,302...84,016,193
Ensembl chr14:83,982,397...84,034,995 		JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid
CTD Direct Evidence: marker/mechanism
associated with HIV Infections;protein:increased expression:serum 		CTD
RGD		 PMID:16566752 PMID:14613268 PMID:2324681 RGD:10450570, RGD:10450888 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:51,249,883...51,278,091
Ensembl chr15:51,250,112...51,278,082 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO associated with Arthritis, Rheumatoid RGD PMID:14613268 RGD:10450570 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648163 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:120,763,386...120,776,097 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Renal Insufficiency,Chronic;protein:increased expression:serum: RGD PMID:18974656 RGD:7241202 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801 		JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
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:25263931 PMID:14687036 RGD:11533931, RGD:11533934 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human) 		RGD PMID:25130874 PMID:22925497 RGD:11075233, RGD:11075235 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:24577940 RGD:11352811 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 severity ISO
IAGP 		DNA:mutations:cds:c.179G>A (p.G60D);c.427¿¿¿T>C(human)
DNA:deletion:cds:c.del-2_-3del(human)
associated with Anemia, Sickle Cell;
DNA:missense mutation:cds: c.2T>C(human) 		RGD PMID:4044827 PMID:14555303 PMID:24829075 PMID:4006915 PMID:9604545 More... RGD:10449442, RGD:11353869, RGD:10755575, RGD:10755570, RGD:10755568, RGD:10755567 NCBI chr10:15,841,724...15,842,580
Ensembl chr10:15,841,763...15,842,603 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO DNA:point mutation:exon:p.M1T (human)
ClinVar Annotator: match by term: Alpha-thalassemia, zf type | ClinVar Annotator: match by term: HEMOGLOBIN CHAROLLES | ClinVar Annotator: match by term: HEMOGLOBIN PETAH TIKVA | ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:508945 PMID:538560 PMID:640847 PMID:646867 PMID:949043 More... RGD:1599361, RGD:10449442 NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,828,377...15,829,141 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 severity ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: A-Thalassemia | ClinVar Annotator: match by term: Alpha-thalassemia, zf type | ClinVar Annotator: match by term: alpha Thalassemia
associated with Anemia, Sickle Cell; 		CTD
ClinVar
OMIM
RGD		 PMID:13856 PMID:478977 PMID:538560 PMID:620088 PMID:868864 More... RGD:10755568 NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,816,096...15,817,167 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN KENITRA | ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: A-Thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN KENITRA | ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:14973 PMID:81926 PMID:88735 PMID:274732 PMID:893136 More... RGD:11353869 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:1347969 PMID:1693293 PMID:2442092 PMID:4625560 PMID:5660684 More... NCBI chr 1:167,636,064...167,643,577 JBrowse link
G Hbq1b hemoglobin subunit theta 1B ISO ClinVar Annotator: match by term: Alpha-thalassemia, zf type | ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:538560 PMID:1553958 PMID:2318293 PMID:3191033 PMID:7910813 More... NCBI chr10:15,838,752...15,840,074
Ensembl chr10:15,825,223...15,825,858 		JBrowse link
G Hbz hemoglobin subunit zeta ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2566576 PMID:2986746 PMID:3191033 PMID:8460633 PMID:9099846 More... NCBI chr10:15,848,279...15,849,757
Ensembl chr10:15,848,289...15,849,768 		JBrowse link
G Hp haptoglobin ISO RGD PMID:16760505 RGD:11041792 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Luc7l LUC7-like ISO ClinVar Annotator: match by term: Alpha-thalassemia, zf type ClinVar PMID:10910890 PMID:12730694 PMID:35190856 NCBI chr10:15,777,837...15,811,586
Ensembl chr10:15,777,829...15,817,940 		JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:105,306,305...105,403,718 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO
ISS 		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 X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: Alpha-thalassemia/intellectual disability syndrome
OMIM:301040
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human)
DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human)
DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1770528 PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 More... RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chr  X:75,149,036...75,155,285
Ensembl chr  X:75,148,996...75,155,284 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:25741868 NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:176,907,154...176,916,985 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chr  X:75,104,040...75,145,247
Ensembl chr  X:75,106,172...75,145,365 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:75,336,687...75,352,959 		JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type ClinVar PMID:11791872 NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,828,377...15,829,141 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type | ClinVar Annotator: match by term: HEMOGLOBIN ZURICH ALBISRIEDEN ClinVar PMID:8237999 PMID:8943885 PMID:12603095 PMID:15481895 PMID:15658192 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,816,096...15,817,167 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome | ClinVar Annotator: match by term: Alpha-thalassemia-myelodysplastic syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3239563 PMID:9326931 PMID:10398237 PMID:10632111 PMID:10995512 More... NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:1634361 PMID:2298455 PMID:2468982 PMID:3177365 PMID:4623704 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,828,377...15,829,141 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN PLASENCIA | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:1281602 PMID:1581238 PMID:1634361 PMID:2298455 PMID:2372512 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,816,096...15,817,167 		JBrowse link
aplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc2 anaphase promoting complex subunit 2 ISO protein:decreased expression:bone marrow (human) RGD PMID:28968996 RGD:14696669 NCBI chr 3:28,484,590...28,496,338
Ensembl chr 3:28,484,614...28,496,337 		JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More... NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860 		JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr17:9,108,030...9,113,562
Ensembl chr17:9,108,074...9,113,561 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr14:1,917,353...1,988,188
Ensembl chr14:1,917,324...1,988,678 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:157,751,651...157,757,796
Ensembl chr  Y:380,743...385,405
Ensembl chr  X:380,743...385,405 		JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility
disease_progression 		ISO DNA:missense mutation:exon:p.H139R (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) 		RGD PMID:21228718 PMID:26999617 RGD:11252118, RGD:11252120 NCBI chr13:95,246,079...95,275,852
Ensembl chr13:95,246,080...95,321,981 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29351780 More... NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:88,863,306...88,921,652 		JBrowse link
G 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 chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Faslg Fas ligand ISO RGD PMID:16212902 RGD:1582425 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:104,751,518...104,756,925
Ensembl chr 1:104,749,983...104,757,038 		JBrowse link
G Gata2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chr 4:122,211,501...122,225,058
Ensembl chr 4:122,211,829...122,225,055 		JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 3:32,338,213...32,350,963
Ensembl chr 3:32,338,214...32,350,916 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO in male RGD PMID:16079101 RGD:10450858 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association 		ISO RGD PMID:14681495 PMID:16227674 RGD:10450790, RGD:10450878 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Ifng interferon gamma susceptibility
treatment 		ISO
ISS 		ClinVar Annotator: match by term: Aplastic anemia
OMIM:609135
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron: 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:25741868 PMID:18426658 PMID:20953611 PMID:15327519 RGD:10755710, RGD:10755690, RGD:10755688 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity IMP RGD PMID:7694680 RGD:12910751 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812 		JBrowse link
G KitWs KIT proto-oncogene receptor tyrosine kinase; mutant 1 severity IMP RGD PMID:7694680 RGD:12910751
G Nbn nibrin ISO ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2952226 PMID:9536098 PMID:9590180 PMID:9590181 PMID:9620777 More... NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:34,256,627...34,291,162 		JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 NCBI chr  X:62,028,475...62,342,455
Ensembl chr  X:62,028,476...62,342,355 		JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:55,170,821...55,228,543 		JBrowse link
G 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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124 		JBrowse link
G Rasa3 RAS p21 protein activator 3 ISS OMIM:609135 MouseDO NCBI chr16:82,557,556...82,671,527
Ensembl chr16:82,557,428...82,672,984 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr14:1,988,792...1,995,236
Ensembl chr14:1,988,793...1,995,225 		JBrowse link
G RT1-Ba RT1 class II, locus Ba treatment ISO DNA:polymorphism, haplotype RGD PMID:12070003 PMID:7994040 RGD:11041765, RGD:11041775 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb severity
treatment 		ISO DNA:polymorphism, haplotype RGD PMID:24979673 PMID:7994040 PMID:12070003 RGD:11041757, RGD:11041775, RGD:11041765 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G Sbds Sbds, ribosome maturation factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplastic anemia | ClinVar Annotator: match by term: SBDS-related condition 		CTD
OMIM
ClinVar		 PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr12:32,056,649...32,065,816
Ensembl chr12:32,056,518...32,065,813 		JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 More... NCBI chr 2:114,744,148...114,744,535 JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:12167716 PMID:15814878 PMID:15885610 PMID:16627250 PMID:16990594 More... RGD:11038668 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility
severity 		ISO DNA:polymorphism: :509C>T(human)
protein:decreased expression: : 		RGD PMID:24362456 PMID:24028718 RGD:11073601, RGD:11073606 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Thpo thrombopoietin no_association ISO DNA:SNPs:exons:
DNA:mutation:cds:c.112C>T(human) 		RGD PMID:22686250 PMID:24085763 RGD:11073679, RGD:11073680 Ensembl chr11:93,686,834...93,693,320 JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:20301779 NCBI chr15:33,140,611...33,146,930
Ensembl chr15:33,140,714...33,146,930 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Zcchc8 zinc finger CCHC-type containing 8 ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:38,530,037...38,553,595
Ensembl chr12:38,530,164...38,553,595 		JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome 		ClinVar
RGD		 PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More... RGD:10449096 NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:30,697,942...30,736,540 		JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:17182750 PMID:20301541 NCBI chr 5:68,647,166...68,656,137
Ensembl chr 5:68,646,203...68,656,181 		JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:36599939 NCBI chr  X:122,243,736...122,248,217
Ensembl chr  X:122,234,454...122,248,422 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G C3 complement C3 ISO 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
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, 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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human) 		OMIM
ClinVar
CTD
RGD		 PMID:1879662 PMID:1976733 PMID:6103091 PMID:7961791 PMID:9536098 More... RGD:7364995, RGD:11040768 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:157,746,089...157,776,323 		JBrowse link
G Cd46 CD46 molecule severity
susceptibility 		ISO DNA:mutations:cds:multiple (human)
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
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human) 		ClinVar
OMIM
CTD
RGD		 PMID:270646 PMID:2431077 PMID:3480783 PMID:9536098 PMID:9551389 More... RGD:11038684, RGD:11352810, RGD:11040768, RGD:11352768 NCBI chr13:109,104,122...109,134,903 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cfb complement factor B ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
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, 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, 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, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple 		OMIM
ClinVar
CTD
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More... RGD:7242707, RGD:11040768 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Cfh complement factor H ISO
ISS
IMP 		DNA:missense mutation
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | 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, 1 | 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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
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, 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: THBD-related condition
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, 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: AHUS, SUSCEPTIBILITY TO, 5 | 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, 1 | 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: CD46-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, 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: 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, 1 | 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
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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: 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, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | 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, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | 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, 1 | 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, 1 | 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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
DNA:deletion:Cds:
DNA:SNPs,Haplotype:: 		ClinVar
OMIM
MouseDO
CTD
RGD		 PMID:646435 PMID:3418956 PMID:8072530 PMID:9536098 PMID:9551389 More... RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO DNA:deletion
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More... RGD:11041162 NCBI chr13:53,946,298...53,961,282
Ensembl chr13:53,919,927...53,961,303 		JBrowse link
G Cfhr4 complement factor H-related 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:53,973,301...54,042,179
Ensembl chr13:53,973,301...54,042,179 		JBrowse link
G Cfi complement factor I ISO 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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
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, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
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 		OMIM
ClinVar
CTD
RGD		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... RGD:6906889 NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:221,062,212...221,104,786 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:91,323,990...91,453,077 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More... NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:91,203,670...91,323,577 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:109,907,251...110,111,214
Ensembl chr  X:109,907,346...110,111,214 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO CTD Direct Evidence: marker/mechanism
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: Hemolytic uremic syndrome, atypical, susceptibility to, 7 		CTD
ClinVar		 PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chr10:74,348,931...74,374,509
Ensembl chr10:74,350,246...74,374,478 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:118,056,935...118,069,090 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome 		ClinVar PMID:2475911 PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 More... NCBI chr 5:135,403,094...135,409,285
Ensembl chr 5:135,402,404...135,409,235 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,828,014...44,853,394 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:113,500,509...113,541,179 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:168,271,073...168,358,242 		JBrowse link
G Pla2r1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 3:65,292,629...65,422,462
Ensembl chr 3:65,292,629...65,422,335 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:50,872,927...50,915,406
Ensembl chr 1:50,872,926...50,917,320 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 9:81,689,446...81,735,406
Ensembl chr 9:81,689,531...81,735,396 		JBrowse link
G Thbd thrombomodulin severity
susceptibility
no_association 		ISO 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: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 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: 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
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple 		OMIM
ClinVar
CTD
RGD		 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 More... RGD:11038684, RGD:11038691, RGD:11038691 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:19380626 PMID:25741868 NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:14,043,877...14,149,304 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More... NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		JBrowse link
autoimmune hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:polymorphism:exon:49G>A(p.T17A)(human) RGD PMID:12555221 RGD:11352242 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:18209093 PMID:9834201 RGD:11040887, RGD:11054970 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr18:73,840,568...73,883,925
Ensembl chr18:73,840,569...73,870,489 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:8325343 RGD:10450476 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Idiopathic autoimmune hemolytic anemia ClinVar PMID:32853638 PMID:33087723 NCBI chr10:5,389,574...5,391,265
Ensembl chr10:5,389,334...5,391,847 		JBrowse link
G Tlr8 toll-like receptor 8 ISO ClinVar Annotator: match by term: Autoimmune hemolytic anemia ClinVar PMID:25741868 PMID:33512449 PMID:34981838 NCBI chr  X:30,708,714...30,733,104
Ensembl chr  X:30,708,033...30,737,079 		JBrowse link
G Tslp thymic stromal lymphopoietin ISS OMIM:205700 MouseDO NCBI chr18:24,723,990...24,728,419
Ensembl chr18:24,720,257...24,728,420 		JBrowse link
AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Autoinflammatory-pancytopenia syndrome | ClinVar Annotator: match by term: DNASE2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24242851 PMID:25741868 PMID:28492532 More... NCBI chr19:40,149,505...40,152,225
Ensembl chr19:40,149,505...40,152,225 		JBrowse link
autosomal dominant beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:14973 PMID:81926 PMID:88735 PMID:750553 PMID:893136 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 4 | ClinVar Annotator: match by term: HSPA9-related condition OMIM
ClinVar		 PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 PMID:26598328 More... NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,804,774...26,828,398 		JBrowse link
autosomal dominant tubulointerstitial kidney disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16116425 PMID:16199547 PMID:17576681 PMID:19664745 More... NCBI chr13:47,348,312...47,359,539
Ensembl chr13:47,348,143...47,359,543 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:129,752,902...129,763,278
Ensembl chr 6:129,752,840...129,763,278 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive 		OMIM
CTD
ClinVar		 PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chr 8:128,713,180...128,725,968
Ensembl chr 8:128,713,131...128,725,966 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Sideroblastic anemia 3 OMIM
ClinVar		 PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 More... NCBI chr 6:129,752,902...129,763,278
Ensembl chr 6:129,752,840...129,763,278 		JBrowse link
Autosomal Sideroblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chr 7:122,422,971...122,426,971
Ensembl chr 7:122,422,982...122,428,401 		JBrowse link
Banti's Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased expression:serum (human) RGD PMID:21290180 RGD:25671452 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO DNA:missense mutation: :p.L33P (human) RGD PMID:18685811 RGD:10755472 NCBI chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:18685811 RGD:10755472 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter: RGD PMID:18685811 RGD:10755472 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO mRNA, protein:decreased expression:liver RGD PMID:21281810 RGD:11038787 NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:105,583,682...105,637,895 		JBrowse link
G Apob apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:36,563,704...36,611,814 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Bcl11a BCL11 transcription factor A severity
treatment 		ISO 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) 		RGD PMID:23541515 PMID:25574177 PMID:25751242 PMID:22258351 RGD:11099969, RGD:11100011, RGD:11100008, RGD:11100005 NCBI chr14:102,230,147...102,325,289
Ensembl chr14:102,231,113...102,325,623 		JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr10:14,894,630...14,952,317
Ensembl chr10:14,894,641...14,952,771 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:31,012,091...31,035,297 		JBrowse link
G Cfb complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:54,460,636...54,483,049
Ensembl chr19:54,468,690...54,514,496 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Gata1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:2045623 RGD:11352730 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:19838709 RGD:10755320 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16755567 PMID:17299088 PMID:23905873 RGD:11041616, RGD:11041617 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043 PMID:4646552 PMID:7803274 PMID:21045395 PMID:25354131 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,828,377...15,829,141 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: beta Thalassemia 		CTD
ClinVar		 PMID:1281602 PMID:1581238 PMID:2298455 PMID:2372512 PMID:3024968 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,816,096...15,817,167 		JBrowse link
G Hbb hemoglobin subunit beta treatment ISO
ISS 		DNA:nonsense mutation:CDS:168C>T, p.Q39X (human)
ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia
OMIM:613985
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation, haplotypes: :p.Q39X (human)
DNA:mutations, haplotypes: :multiple 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:393 PMID:8114 PMID:14597 PMID:14973 PMID:20942 More... RGD:1600893, RGD:11353868, RGD:1600575, RGD:1600895 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 1:167,636,064...167,643,577 JBrowse link
G Hbb-b2 hemoglobin, beta adult minor chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17018382 NCBI chr 1:167,655,583...167,656,963 JBrowse link
G Hbe1 hemoglobin subunit epsilon 1 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 1:167,694,820...167,872,091
Ensembl chr 1:167,694,825...167,696,280 		JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 1:167,683,760...167,685,315
Ensembl chr 1:167,683,760...167,706,139 		JBrowse link
G Hbs1l HBS1-like translational GTPase ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr 1:17,912,139...17,989,651
Ensembl chr 1:17,912,070...17,989,646 		JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutations: :p.H63D, p.S65C (human)
DNA:missense mutation: :p.C282Y (human) 		RGD PMID:14703689 PMID:17160266 PMID:17160266 RGD:10755489, RGD:10755537, RGD:10755537 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Hp haptoglobin ISO RGD PMID:22885163 RGD:11041795 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Klf1 KLF transcription factor 1 ISS OMIM:187550 | OMIM:603902 | OMIM:613985 MouseDO NCBI chr19:40,155,476...40,158,651
Ensembl chr19:40,155,480...40,158,607 		JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842 		JBrowse link
G Or51b4 olfactory receptor family 51 subfamily B member 4 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 1:167,729,117...167,730,040
Ensembl chr 1:167,729,117...167,730,040 		JBrowse link
G Or51v8b olfactory receptor family 51 subfamily V member 8B ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 1:167,399,672...167,400,616
Ensembl chr 1:167,399,672...167,400,616 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Mediterranean anemia ClinVar PMID:17301963 PMID:17718875 PMID:22903915 PMID:28492532 NCBI chr 3:82,002,106...82,012,273
Ensembl chr 3:82,002,368...82,012,451 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:12513847 RGD:11041746 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tfr2 transferrin receptor 2 ISO mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16755567 PMID:16755567 RGD:11062138 NCBI chr12:24,744,450...24,761,413
Ensembl chr12:24,744,450...24,761,413 		JBrowse link
G Tfrc transferrin receptor ISO mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16755567 PMID:16755567 RGD:11062138 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
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 More... NCBI chr13:49,819,123...49,837,125
Ensembl chr13:49,822,304...49,837,125 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:80,311,269...80,321,678
Ensembl chr11:80,311,214...80,327,828 		JBrowse link
beta-thalassemia intermedia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta thalassemia intermedia | ClinVar Annotator: match by term: Thalassemia intermedia ClinVar PMID:1301199 PMID:1428943 PMID:1463768 PMID:1550780 PMID:1586746 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN COCODY | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E | ClinVar Annotator: match by term: Hemoglobin E/beta- thalassemia
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN COCODY | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E 		ClinVar PMID:14973 PMID:27132 PMID:36184 PMID:49057 PMID:81926 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr14:31,522,424...31,549,978
Ensembl chr14:31,522,963...31,550,151 		JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59b CD59b molecule ISO ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | ClinVar Annotator: match by term: CD59-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 PMID:28492532 NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:110,914,091...110,935,310 		JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr12:24,963,174...24,988,473
Ensembl chr12:24,963,174...24,988,388 		JBrowse link
G Mdfic MyoD family inhibitor domain containing ISS
ISO 		OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY 		MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 4:44,938,301...45,018,157
Ensembl chr 4:44,938,480...45,018,156 		JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 PMID:39434542 NCBI chr12:25,005,741...25,022,628
Ensembl chr12:25,005,738...25,022,607 		JBrowse link
chromosome 5q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Chromosome 5q deletion syndrome ClinVar PMID:25741868 NCBI chr 7:109,462,645...109,478,021
Ensembl chr 7:109,462,646...109,489,531 		JBrowse link
G Klf1 KLF transcription factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:40,155,476...40,158,651
Ensembl chr19:40,155,480...40,158,607 		JBrowse link
G Rps14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr18:56,492,010...56,503,092
Ensembl chr18:56,498,245...56,503,091 		JBrowse link
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 6:100,713,510...100,781,013
Ensembl chr 6:100,713,681...100,781,957 		JBrowse link
G Zbtb25 zinc finger and BTB domain containing 25 ISO ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia ClinVar PMID:25741868 NCBI chr 6:100,807,083...100,831,555
Ensembl chr 6:100,810,961...100,830,135 		JBrowse link
congenital dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human) 		ClinVar
CTD
RGD		 PMID:16098079 RGD:11081155 NCBI chr 3:128,129,664...128,143,520
Ensembl chr 3:128,129,301...128,143,549 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:122,895,754...123,101,099
Ensembl chr 3:122,895,824...123,101,099 		JBrowse link
G Diaph3 diaphanous-related formin 3 ISS MouseDO NCBI chr15:68,951,992...69,421,623
Ensembl chr15:68,951,989...69,421,552 		JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr 7:127,561,777...127,588,762
Ensembl chr 7:127,561,717...127,597,109 		JBrowse link
G Kif23 kinesin family member 23 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:71,293,439...71,321,911
Ensembl chr 8:71,293,482...71,320,856 		JBrowse link
G Klf1 KLF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:40,155,476...40,158,651
Ensembl chr19:40,155,480...40,158,607 		JBrowse link
G Man2a1 mannosidase, alpha, class 2A, member 1 ISS OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr 9:111,698,913...111,855,257
Ensembl chr 9:111,698,913...111,867,850 		JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia 		CTD
ClinVar		 PMID:19561605 PMID:24033266 PMID:25044164 PMID:25741868 PMID:28492532 NCBI chr 3:152,392,340...152,434,813
Ensembl chr 3:152,392,308...152,434,800 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr 8:64,414,502...64,474,425
Ensembl chr 8:64,414,301...64,474,418 		JBrowse link
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 chr19:51,838,411...51,858,639
Ensembl chr19:51,833,914...51,872,423 		JBrowse link
congenital dyserythropoietic anemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 3:128,129,664...128,143,520
Ensembl chr 3:128,129,301...128,143,549 		JBrowse link
congenital dyserythropoietic anemia type Ia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO DNA:missense mutations, nonsense mutations:cds:multiple
ClinVar Annotator: match by term: CDAN1-related condition | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia
DNA:missense mutation:cds:p.R1042W (human)
DNA:missense mutations, frameshift mutations, nonsense mutation:cds:multiple
DNA:mutations:multiple 		ClinVar
OMIM
RGD		 PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... RGD:1600473, RGD:40903077, RGD:40903076, RGD:40903075 NCBI chr 3:128,129,664...128,143,520
Ensembl chr 3:128,129,301...128,143,549 		JBrowse link
congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr 3:122,895,754...123,101,099
Ensembl chr 3:122,895,824...123,101,099 		JBrowse link
congenital dyserythropoietic anemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf2 BANF family member 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:151,841,506...151,896,205
Ensembl chr 3:151,853,911...151,896,204 		JBrowse link
G Dzank1 double zinc ribbon and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,309,228...152,361,548
Ensembl chr 3:152,309,228...152,361,548 		JBrowse link
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,194,560...152,235,048
Ensembl chr 3:152,194,696...152,235,052 		JBrowse link
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,094,514...152,103,314
Ensembl chr 3:152,094,658...152,103,313 		JBrowse link
G Ovol2 ovo-like zinc finger 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,130,767...152,160,487
Ensembl chr 3:152,130,767...152,160,487 		JBrowse link
G Pet117 PET117 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,187,473...152,195,173
Ensembl chr 3:152,189,892...152,194,868 		JBrowse link
G Polr3f RNA polymerase III subunit F ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,361,798...152,378,169
Ensembl chr 3:152,361,798...152,378,168 		JBrowse link
G Rbbp9 RB binding protein 9, serine hydrolase ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,378,426...152,392,370
Ensembl chr 3:152,378,699...152,385,489 		JBrowse link
G Rrbp1 ribosome binding protein 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:151,768,386...151,830,255
Ensembl chr 3:151,768,386...151,830,255 		JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE | ClinVar Annotator: match by term: HEMPAS anemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19561605 PMID:19621418 More... NCBI chr 3:152,392,340...152,434,813
Ensembl chr 3:152,392,308...152,434,800 		JBrowse link
G Snx5 sorting nexin 5 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,075,258...152,094,508
Ensembl chr 3:152,075,258...152,094,877 		JBrowse link
G Zfp133 zinc finger protein 133 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,282,744...152,300,892
Ensembl chr 3:152,282,735...152,300,889 		JBrowse link
congenital dyserythropoietic anemia type IIIa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr 8:71,293,439...71,321,911
Ensembl chr 8:71,293,482...71,320,856 		JBrowse link
congenital dyserythropoietic anemia type IIIb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 7:132,629,789...132,659,738
Ensembl chr 7:132,620,595...132,659,738 		JBrowse link
congenital dyserythropoietic anemia type IVa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: CDA, TYPE IVa ClinVar PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 PMID:25741868 More... NCBI chr19:40,168,038...40,174,536
Ensembl chr19:40,168,141...40,175,686 		JBrowse link
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:7795610 PMID:9536098 PMID:11825066 PMID:17576681 More... NCBI chr19:40,155,476...40,158,651
Ensembl chr19:40,155,480...40,158,607 		JBrowse link
congenital dyserythropoietic anemia type IVb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 ClinVar
OMIM		 PMID:18487511 PMID:24443441 PMID:25724378 PMID:28361594 PMID:28492532 More... NCBI chr19:40,155,476...40,158,651
Ensembl chr19:40,155,480...40,158,607 		JBrowse link
congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:15,717,936...15,743,376
Ensembl chr 6:15,717,936...15,743,376 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:15,698,448...15,717,730
Ensembl chr 6:15,698,448...15,717,730 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr13:109,104,122...109,134,903 JBrowse link
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 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO Severe GPI deficiency with neurologic deficits RGD PMID:8499925 PMID:9856489 RGD:1600631, RGD:1600632 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:95,965,396...95,993,261 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:947404 RGD:1600697 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY | ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA | ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW ClinVar
RGD		 PMID:3839771 PMID:5713642 PMID:6815132 PMID:6877904 PMID:7852083 More... RGD:1600886 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr19:67,453,120...67,515,347
Ensembl chr19:67,453,122...67,515,037 		JBrowse link
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:100,998,965...101,042,120
Ensembl chr 6:100,994,417...101,042,118 		JBrowse link
G Rhd Rh blood group, D antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 5:152,371,160...152,405,396
Ensembl chr 5:152,371,200...152,405,395 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:missense mutations:cds:multiple (human) RGD PMID:16227998 PMID:8841202 RGD:10450505, RGD:10450509 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:26002053 PMID:28492532 NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		JBrowse link
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,618,012...91,627,490
Ensembl chr 1:91,617,859...91,627,489 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:92,014,859...92,061,420 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,626,884...89,648,823
Ensembl chr 1:89,628,266...89,649,067 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
G Axl Axl receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:90,392,864...90,424,009 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,263,387...90,266,292
Ensembl chr 1:90,263,827...90,270,287 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,315,472...90,323,143
Ensembl chr 1:90,317,200...90,323,175 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:90,261,629...90,295,749 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,866,258...91,883,921
Ensembl chr 1:91,866,258...91,884,225 		JBrowse link
G C1h19orf47 similar to human chromosome 19 open reading frame 47 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,971,879...92,010,938
Ensembl chr 1:91,971,931...91,999,771 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:31,012,091...31,035,297 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,347,003...90,354,809
Ensembl chr 1:90,347,008...90,354,764 		JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:89,621,460...89,625,812 		JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:86,496,487...86,501,454
Ensembl chr 1:86,496,897...86,500,774 		JBrowse link
G Ceacam4 CEA cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,504,555...89,510,831
Ensembl chr 1:89,504,555...89,510,831 		JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,544,415...89,562,552
Ensembl chr 1:89,544,400...89,562,552 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:89,981,743...90,008,354 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,079,409...90,081,556
Ensembl chr 1:90,078,552...90,081,556 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:91,654,225...91,676,819 		JBrowse link
G Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,359,278...91,372,554
Ensembl chr 1:91,359,272...91,389,730 		JBrowse link
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,299,584...91,307,650
Ensembl chr 1:91,299,561...91,307,649 		JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,780,468...90,859,852 JBrowse link
G Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,543,768...91,557,553
Ensembl chr 1:91,543,768...91,557,553 		JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,437,741...90,453,073
Ensembl chr 1:90,438,224...90,453,073 		JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:89,919,524...89,936,804 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chr14:1,917,353...1,988,188
Ensembl chr14:1,917,324...1,988,678 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,250,262...90,262,592
Ensembl chr 1:90,243,532...90,262,594 		JBrowse link
G Dmrtc2 DMRT-like family C2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,594,120...89,601,761
Ensembl chr 1:89,594,215...89,601,762 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,606,743...92,624,089
Ensembl chr 1:92,607,303...92,614,744 		JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,579,205...91,586,985
Ensembl chr 1:91,579,206...91,587,385 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,665,837...92,667,162
Ensembl chr 1:92,665,481...92,675,307 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,673,119...92,674,899 JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Erich4 glutamate-rich 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,251,345...90,253,085
Ensembl chr 1:90,251,345...90,253,085 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,295,495...90,305,047
Ensembl chr 1:90,293,797...90,305,046 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,597,407...92,606,507
Ensembl chr 1:92,597,258...92,606,506 		JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,502,461...92,540,658
Ensembl chr 1:92,499,498...92,540,658 		JBrowse link
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 More... NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:89,733,741...89,794,962 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:89,943,669...89,953,593 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,938,308...91,948,680
Ensembl chr 1:91,938,278...91,948,683 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,356,182...90,391,923
Ensembl chr 1:90,356,182...90,390,370 		JBrowse link
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:81,235,204...81,276,249
Ensembl chr11:81,235,090...81,276,249 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,628,606...91,650,182
Ensembl chr 1:91,628,608...91,653,350 		JBrowse link
G Lgals5 galectin 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr10:64,351,976...64,355,137
Ensembl chr10:64,351,964...64,355,180 		JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,093,433...90,112,117
Ensembl chr 1:90,093,433...90,112,117 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,727,769...91,759,822
Ensembl chr 1:91,727,769...91,760,006 		JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,588,368...89,594,287
Ensembl chr 1:89,588,368...89,593,890 		JBrowse link
G Map3k10 mitogen activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,083,376...92,101,676
Ensembl chr 1:92,083,376...92,101,676 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,601,326...91,603,019
Ensembl chr 1:91,601,327...91,603,019 		JBrowse link
G Numbl NUMB-like, endocytic adaptor protein ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,677,437...91,701,415
Ensembl chr 1:91,677,242...91,701,424 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611 		JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:91,949,467...91,961,207 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610 		JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:89,812,093...89,897,564 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,012,307...90,017,988
Ensembl chr 1:90,014,027...90,017,997 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:91,911,999...91,937,235 		JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,476,690...92,485,268
Ensembl chr 1:92,476,690...92,485,060 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,589,047...91,600,426
Ensembl chr 1:91,589,047...91,600,337 		JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:89,691,884...89,695,017 		JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 5:153,557,592...153,561,230
Ensembl chr 5:153,557,597...153,561,127 		JBrowse link
G Rpl19 ribosomal protein L19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr10:83,514,509...83,522,352
Ensembl chr10:83,515,464...83,522,352 		JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr10:54,109,692...54,112,822
Ensembl chr10:54,109,362...54,112,822 		JBrowse link
G Rpl35a ribosomal protein L35A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:81,231,114...81,235,094
Ensembl chr 5:163,826,849...163,827,306
Ensembl chr11:163,826,849...163,827,306 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chr14:1,988,792...1,995,236
Ensembl chr14:1,988,793...1,995,225 		JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20116044 PMID:25741868 PMID:28492532 NCBI chr20:5,696,135...5,700,863
Ensembl chr20:5,696,135...5,700,150
Ensembl chr 6:5,696,135...5,700,150 		JBrowse link
G Rps10l6 ribosomal protein S10 like 6 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20116044 PMID:25741868 PMID:28492532 NCBI chr15:20,788,028...21,277,092
Ensembl chr15:20,787,968...20,788,849 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,770,658...92,773,603
Ensembl chr19:56,922,246...56,923,020
Ensembl chr 1:56,922,246...56,923,020 		JBrowse link
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 More... NCBI chr 1:89,608,408...89,614,390
Ensembl chr 7:104,324,520...104,325,132
Ensembl chr 1:104,324,520...104,325,132 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:95,429...101,146
Ensembl chr16:96,484...101,144 		JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:50,994,581...50,999,447 JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,679,034...92,686,320
Ensembl chr 1:92,679,034...92,686,320 		JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,903,297...91,906,565
Ensembl chr 1:91,891,814...91,907,001 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,891,141...91,894,861
Ensembl chr 1:91,893,616...91,897,110 		JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,764,426...91,777,959
Ensembl chr 1:91,764,426...91,778,158 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,609,419...91,618,119
Ensembl chr 1:91,609,420...91,618,042 		JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:91,778,380...91,865,049 		JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,714,276...92,745,489
Ensembl chr 1:92,714,281...92,744,445 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,702,437...92,710,311
Ensembl chr 1:92,702,437...92,710,311 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,019,727...90,029,432
Ensembl chr 1:90,019,745...90,029,427 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:90,307,264...90,314,796
Ensembl chr 1:90,306,289...90,313,320 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,081,026...92,083,208
Ensembl chr 1:92,080,806...92,083,203 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:80,311,269...80,321,678
Ensembl chr11:80,311,214...80,327,828 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr12:32,664,312...32,676,940
Ensembl chr12:32,650,373...32,677,739 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,935,604...89,945,669
Ensembl chr 1:89,933,478...89,956,958 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:89,760,956...89,813,198 		JBrowse link
G Znf780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:92,136,761...92,159,076 JBrowse link
congenital intrinsic factor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:14576042 PMID:14695536 PMID:15738392 PMID:16199547 More... RGD:11049582 NCBI chr 1:218,030,756...218,045,004
Ensembl chr 1:218,030,731...218,045,117 		JBrowse link
Congenital Methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO protein:decreased activity:erythrocyte membrane:
DNA:missense, nonsense mutations:splice junction,cds:multiple 		RGD PMID:7451647 PMID:18343696 RGD:11352693, RGD:11352695 NCBI chr18:80,487,923...80,520,544
Ensembl chr18:14,453,966...14,455,094
Ensembl chr18:14,453,966...14,455,094 		JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Hereditary methemoglobinemia ClinVar PMID:10807796 PMID:11159544 PMID:11295830 PMID:12756024 PMID:16310381 More... NCBI chr 7:116,186,729...116,204,290
Ensembl chr 7:116,186,729...116,204,306 		JBrowse link
congenital nonspherocytic hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO DNA:missense, deletion mutations:cds: RGD PMID:17662886 RGD:11100022 NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:36,310,197...36,320,757 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :1376G>T, 1502T>G (human) 		CTD
RGD		 PMID:4125296 PMID:10666231 PMID:1999409 PMID:24923766 RGD:1599812, RGD:10449107 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO
ISS 		OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470
DNA:mutations:cds: 		MouseDO
RGD		 PMID:17041899 PMID:8417789 PMID:9446754 RGD:1600633, RGD:11051955, RGD:11051849 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:95,965,396...95,993,261 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU ClinVar PMID:8280608 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Hk1 hexokinase 1 ISO DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human)
DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte 		RGD PMID:7655856 PMID:11783948 RGD:1601519, RGD:11353878 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr 4:87,491,828...87,534,838
Ensembl chr 4:87,491,828...87,534,838 		JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:missense mutations:cds:p.A468V, p.I314T (human)
DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:missense mutations:cds:p.T384M, p.Q421K (human) 		RGD PMID:7949104 PMID:11054094 PMID:8161798 PMID:1536957 RGD:11535979, RGD:11535987, RGD:11535983, RGD:11535981 NCBI chr 2:176,840,779...176,849,637
Ensembl chr 2:176,840,764...176,849,644 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413 		JBrowse link
congenital nonspherocytic hemolytic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1 OMIM
ClinVar		 PMID:5448 PMID:16832 PMID:736032 PMID:848857 PMID:853376 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1 ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:157,367,639...157,392,757 		JBrowse link
congenital nonspherocytic hemolytic anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr16:65,185,574...65,228,742
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
congenital nonspherocytic hemolytic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar PMID:25741868 NCBI chr 2:176,849,635...176,867,726
Ensembl chr 2:176,849,635...176,868,538 		JBrowse link
G Pklr pyruvate kinase L/R ISO
ISS 		ClinVar Annotator: match by term: PKLR-related condition | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
OMIM:266200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G338D (mouse)
associated with Anemia, Hemolytic;DNA:mutations:multiple (human)
human gene complementing mouse knockout 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1536957 PMID:1670447 PMID:1896471 PMID:1937486 PMID:2018831 More... RGD:11537470, RGD:11537382, RGD:11535996 NCBI chr 2:176,840,779...176,849,637
Ensembl chr 2:176,840,764...176,849,644 		JBrowse link
congenital nonspherocytic hemolytic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia due to adenylate kinase deficiency 		OMIM
CTD
ClinVar		 PMID:2542324 PMID:9432020 PMID:10233365 PMID:12649162 PMID:15315793 More... NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:36,310,197...36,320,757 		JBrowse link
congenital nonspherocytic hemolytic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 | ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency OMIM
ClinVar		 PMID:4076245 PMID:7989588 PMID:8499925 PMID:8822952 PMID:8822954 More... NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:95,965,396...95,993,261 		JBrowse link
congenital nonspherocytic hemolytic anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
congenital nonspherocytic hemolytic anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr 3:164,508,005...164,538,343
Ensembl chr 3:164,508,005...164,538,306 		JBrowse link
congenital nonspherocytic hemolytic anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency 		CTD
OMIM
ClinVar		 PMID:5901982 PMID:10515893 PMID:10733484 PMID:25741868 PMID:28492532 NCBI chr 8:87,510,251...87,548,896
Ensembl chr 8:87,510,463...87,548,893 		JBrowse link
congenital nonspherocytic hemolytic anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: UMPH1 DEFICIENCY | ClinVar Annotator: match by term: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 		OMIM
CTD
ClinVar		 PMID:6310729 PMID:11369620 PMID:12714505 PMID:12930399 PMID:15238149 More... NCBI chr 4:87,491,828...87,534,838
Ensembl chr 4:87,491,828...87,534,838 		JBrowse link
congenital nonspherocytic hemolytic anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
dehydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DESICCYTOSIS GARDOS 		CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:34201899 PMID:36003639 PMID:36864026 NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:89,086,814...89,102,275 		JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:89,086,814...89,102,275 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr19:67,453,120...67,515,347
Ensembl chr19:67,453,122...67,515,037 		JBrowse link
dehydrated hereditary stomatocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:89,086,814...89,102,275 		JBrowse link
delta beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,081,856...206,155,146
Ensembl chr 1:206,081,878...206,155,150 		JBrowse link
G Art1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:165,890,032...165,899,154
Ensembl chr 1:165,890,086...165,899,146 		JBrowse link
G Art5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:165,885,344...165,895,306
Ensembl chr 1:165,885,280...165,895,306 		JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,578,447...207,665,126
Ensembl chr 1:207,578,449...207,580,856 		JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,465,040...206,518,156
Ensembl chr 1:206,465,040...206,518,156 		JBrowse link
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,183,092...208,225,425
Ensembl chr 1:208,182,788...208,225,407 		JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,994,300...205,998,307
Ensembl chr 1:205,994,738...205,998,784 		JBrowse link
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,665,274...207,681,094
Ensembl chr 1:207,664,885...207,681,092 		JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,802,686...205,811,184
Ensembl chr 1:205,802,686...205,811,093 		JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,084,801...208,087,680
Ensembl chr 1:208,084,787...208,087,498 		JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,954,713...205,957,710
Ensembl chr 1:205,953,197...205,957,944 		JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,024,059...206,059,259
Ensembl chr 1:205,998,801...206,059,227 		JBrowse link
G Chrna10 cholinergic receptor nicotinic alpha 10 subunit ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:165,898,932...165,905,348
Ensembl chr 1:165,899,261...165,903,458 		JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,987,957...205,993,515
Ensembl chr 1:205,990,507...205,993,516 		JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:206,956,944...206,968,821 		JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,831,428...205,865,106
Ensembl chr 1:205,831,336...205,865,106 		JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,825,937...205,829,124
Ensembl chr 1:205,826,049...205,830,458 		JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,596,912...206,613,728
Ensembl chr 1:206,598,942...206,612,441 		JBrowse link
G Eps8l2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,875,825...205,901,109
Ensembl chr 1:205,875,801...205,901,101 		JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,936,189...205,942,121
Ensembl chr 1:205,936,687...205,942,779 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,160,175...207,162,851 JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta OMIM
ClinVar		 PMID:14973 PMID:81926 PMID:88735 PMID:750553 PMID:893136 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Delta-plus-thalassemia | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 PMID:9207479 PMID:11939506 PMID:15921167 PMID:16434382 More... NCBI chr 1:167,636,064...167,643,577 JBrowse link
G Hbe1 hemoglobin subunit epsilon 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:167,694,820...167,872,091
Ensembl chr 1:167,694,825...167,696,280 		JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO ClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Sardinian HPFH | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta OMIM
ClinVar		 PMID:291015 PMID:808940 PMID:811241 PMID:939551 PMID:1373683 More... NCBI chr 1:167,683,760...167,685,315
Ensembl chr 1:167,683,760...167,706,139 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590 		JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,936,979...206,954,594
Ensembl chr 1:206,936,444...206,954,629 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:261,186,119...261,186,682 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,796,956...205,800,543
Ensembl chr 1:205,796,959...205,800,023 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072 		JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,708,389...206,709,396 JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,744,694...205,750,460
Ensembl chr 1:205,744,697...205,748,738 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:205,729,409...205,744,759 		JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,044,157...207,077,891
Ensembl chr 1:207,044,159...207,077,893 		JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:205,755,917...205,756,034 		JBrowse link
G Mir675 microRNA 675 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,161,752...207,161,835 JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,522,523...206,579,502
Ensembl chr 1:206,522,523...206,579,449 		JBrowse link
G Mrgpre MAS related GPR family member E ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,393,141...208,401,252
Ensembl chr 1:208,392,642...208,399,408 		JBrowse link
G Mrgprg MAS related GPR family member G ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,377,008...208,380,916
Ensembl chr 1:208,375,669...208,380,984 		JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,116,930...207,124,702
Ensembl chr 1:207,116,462...207,124,699 		JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,225,775...206,261,280
Ensembl chr 1:206,229,035...206,261,280 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:206,293,869...206,326,006 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,346,400...206,378,367
Ensembl chr 1:206,346,400...206,378,367 		JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,155,826...206,194,384
Ensembl chr 1:206,155,593...206,191,864 		JBrowse link
G Nap1l4 nucleosome assembly protein 1-like 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,139,105...208,175,597
Ensembl chr 1:208,139,113...208,174,569 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:165,906,405...166,003,366
Ensembl chr 1:165,906,405...166,003,366 		JBrowse link
G Olr59 olfactory receptor 59 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,604,972...166,639,634
Ensembl chr 1:166,604,141...166,623,265 		JBrowse link
G Or51a41 olfactory receptor family 51 subfamily A member 41 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,866,293...166,867,300
Ensembl chr 1:166,866,293...166,867,300 		JBrowse link
G Or51a7 olfactory receptor family 51 subfamily A member 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,805,392...166,809,420
Ensembl chr 1:166,807,689...166,808,627 		JBrowse link
G Or51d1 olfactory receptor family 51 subfamily D member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,546,510...166,547,567
Ensembl chr 1:166,546,510...166,547,567 		JBrowse link
G Or51e1 olfactory receptor family 51 subfamily E member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,554,112...166,564,147
Ensembl chr 1:166,554,061...166,564,105 		JBrowse link
G Or51f1 olfactory receptor family 51 subfamily F member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,690,570...166,691,529
Ensembl chr 1:166,690,570...166,691,529 		JBrowse link
G Or51f2 olfactory receptor family 51 subfamily F member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,704,259...166,705,209
Ensembl chr 1:166,704,259...166,705,209 		JBrowse link
G Or51f23c olfactory receptor family 51 subfamily F member 23C ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,643,388...166,644,338
Ensembl chr 1:166,643,388...166,644,338 		JBrowse link
G Or51g1 olfactory receptor family 51 subfamily G member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,850,033...166,850,974
Ensembl chr 1:166,850,033...166,850,974 		JBrowse link
G Or51g2 olfactory receptor family 51 subfamily G member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,833,547...166,834,485
Ensembl chr 1:166,833,547...166,834,485 		JBrowse link
G Or51l1 olfactory receptor family 51 subfamily L member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,928,111...166,929,058
Ensembl chr 1:166,928,111...166,929,058 		JBrowse link
G Or51s1 olfactory receptor family 51 subfamily S member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,727,310...166,728,236
Ensembl chr 1:166,727,313...166,728,281 		JBrowse link
G Or51t1 olfactory receptor, family 51, subfamily T, member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,782,305...166,783,345
Ensembl chr 1:166,782,313...166,783,345 		JBrowse link
G Or51v8b olfactory receptor family 51 subfamily V member 8B ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:167,399,672...167,400,616
Ensembl chr 1:167,399,672...167,400,616 		JBrowse link
G Or52a5 olfactory receptor family 52 subfamily A member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:167,594,870...167,595,817 JBrowse link
G Or52a5b olfactory receptor family 52 subfamily A member 5B ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:167,572,790...167,573,740 JBrowse link
G Or52b4 olfactory receptor family 52 subfamily B member 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,351,005...166,351,946
Ensembl chr 1:166,351,005...166,351,946 		JBrowse link
G Or52e2 olfactory receptor family 52 subfamily E member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,972,967...166,973,920
Ensembl chr 1:166,972,967...166,973,920 		JBrowse link
G Or52e51 olfactory receptor family 52 subfamily E member 51 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:167,068,794...167,069,732
Ensembl chr 1:167,068,794...167,069,732 		JBrowse link
G Or52i2 olfactory receptor family 52 subfamily I member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,517,118...166,518,080
Ensembl chr 1:166,517,118...166,518,080 		JBrowse link
G Or52j3 olfactory receptor family 52 subfamily J member 3 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:167,017,079...167,018,017
Ensembl chr 1:167,017,079...167,018,017 		JBrowse link
G Or52k1 olfactory receptor family 52 subfamily K member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,449,318...166,450,262
Ensembl chr 1:166,449,318...166,450,262 		JBrowse link
G Or52k2 olfactory receptor family 52 subfamily K member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,438,782...166,439,735
Ensembl chr 1:166,438,782...166,439,735 		JBrowse link
G Or52m1 olfactory receptor family 52 subfamily M member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,477,144...166,478,097
Ensembl chr 1:166,477,144...166,478,097 		JBrowse link
G Or52r1c olfactory receptor family 52 subfamily R member 1C ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,887,023...166,887,967
Ensembl chr 1:166,887,008...166,887,967 		JBrowse link
G Osbpl5 oxysterol binding protein-like 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,291,441...208,362,086
Ensembl chr 1:208,291,441...208,362,169 		JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,003,593...166,030,088
Ensembl chr 1:166,003,523...166,030,088 		JBrowse link
G Phlda2 pleckstrin homology-like domain, family A, member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,126,302...208,127,241
Ensembl chr 1:208,126,302...208,127,920 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,763,264...205,796,478
Ensembl chr 1:205,763,549...205,801,557 		JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,966,392...205,972,359
Ensembl chr 1:205,966,392...205,971,600 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,982,279...205,987,361
Ensembl chr 1:205,982,258...205,987,359 		JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,999,607...206,001,615
Ensembl chr19:8,341,868...8,342,071 		JBrowse link
G Prr33 proline rich 33 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,074,382...207,080,233
Ensembl chr 1:207,045,684...207,078,423 		JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,749,173...205,753,350
Ensembl chr 1:205,747,654...205,753,360 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,030,685...166,046,254
Ensembl chr 1:166,017,427...166,044,787 		JBrowse link
G Rnh1 ribonuclease/angiogenin inhibitor 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,698,882...205,711,348
Ensembl chr 1:205,698,882...205,711,582 		JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,975,598...205,978,192
Ensembl chr 1:205,975,894...205,978,191 		JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,235,904...166,260,206
Ensembl chr 1:166,235,900...166,260,944 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,812,435...205,813,246
Ensembl chr 1:205,812,435...205,813,246 		JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,100,032...208,124,382
Ensembl chr 1:208,101,136...208,124,380 		JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,954,713...205,966,188
Ensembl chr 1:205,958,032...205,965,877 		JBrowse link
G Snora52 small nucleolar RNA, H/ACA box 52 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,977,044...205,977,177
Ensembl chr 1:205,977,044...205,977,177 		JBrowse link
G Snora54 small nucleolar RNA, H/ACA box 54 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:208,156,866...208,156,992
Ensembl chr 1:208,156,866...208,156,992 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:166,067,962...166,233,108 		JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,017,602...207,023,076
Ensembl chr 1:207,017,461...207,023,076 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,923,196...205,933,526
Ensembl chr 1:205,923,165...205,933,535 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:207,500,962...207,557,227 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:205,865,564...205,873,933
Ensembl chr 1:205,864,852...205,873,933 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,882,358...207,027,034
Ensembl chr 1:207,024,416...207,027,038 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,082,014...207,099,014
Ensembl chr 1:207,081,812...207,099,423 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,391,120...206,413,809
Ensembl chr 1:206,380,308...206,411,988 		JBrowse link
G Trim21 tripartite motif-containing 21 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,376,829...166,399,441
Ensembl chr 1:166,376,829...166,399,449 		JBrowse link
G Trim68 tripartite motif containing 68 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:166,525,981...166,539,407
Ensembl chr 1:166,525,981...166,539,407 		JBrowse link
G Trpm5 transient receptor potential cation channel, subfamily M, member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,684,811...207,707,380
Ensembl chr 1:207,685,157...207,707,088 		JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,619,566...207,633,885
Ensembl chr 1:207,619,567...207,656,946 		JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:206,001,731...206,021,414
Ensembl chr 1:206,001,731...206,021,413 		JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 1:207,681,420...207,684,244
Ensembl chr 1:207,682,322...207,685,485 		JBrowse link
Delta-Thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Delta-0-thalassemia | ClinVar Annotator: match by term: delta Thalassemia ClinVar PMID:1301204 PMID:1309671 PMID:1398286 PMID:1515647 PMID:1742490 More... NCBI chr 1:167,636,064...167,643,577 JBrowse link
Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,618,012...91,627,490
Ensembl chr 1:91,617,859...91,627,489 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:92,014,859...92,061,420 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,361,898...54,373,776
Ensembl chr10:54,361,898...54,373,776 		JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,391,331...54,400,648
Ensembl chr10:54,391,302...54,400,648 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,329,224...54,353,167
Ensembl chr10:54,329,043...54,353,166 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,626,884...89,648,823
Ensembl chr 1:89,628,266...89,649,067 		JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:54,149,372...54,162,128
Ensembl chr10:54,149,372...54,162,128 		JBrowse link
G Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,716,988...153,757,787
Ensembl chr 5:153,716,988...153,757,787 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,243,116...54,249,675
Ensembl chr10:54,242,850...54,252,285 		JBrowse link
G Axl Axl receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:90,392,864...90,424,009 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,263,387...90,266,292
Ensembl chr 1:90,263,827...90,270,287 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,315,472...90,323,143
Ensembl chr 1:90,317,200...90,323,175 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,266,731...90,295,521
Ensembl chr 1:90,261,629...90,295,749 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,866,258...91,883,921
Ensembl chr 1:91,866,258...91,884,225 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,259,349...54,261,203
Ensembl chr10:54,256,949...54,261,387 		JBrowse link
G Brdt bromodomain testis associated ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr14:2,532,275...2,590,780
Ensembl chr14:2,532,275...2,590,760 		JBrowse link
G Btbd8 BTB domain containing 8 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr14:2,410,093...2,483,114
Ensembl chr14:2,410,093...2,479,202 		JBrowse link
G C14h1orf146 similar to human chromosome 1 open reading frame 146 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr14:2,375,311...2,395,331
Ensembl chr14:2,374,948...2,386,112 		JBrowse link
G C1h19orf47 similar to human chromosome 19 open reading frame 47 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,971,879...92,010,938
Ensembl chr 1:91,971,931...91,999,771 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,347,003...90,354,809
Ensembl chr 1:90,347,008...90,354,764 		JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:89,621,460...89,625,812 		JBrowse link
G Cdc7 cell division cycle 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr14:2,949,538...2,969,656
Ensembl chr14:2,949,539...2,969,656 		JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:86,496,487...86,501,454
Ensembl chr 1:86,496,897...86,500,774 		JBrowse link
G Ceacam4 CEA cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,504,555...89,510,831
Ensembl chr 1:89,504,555...89,510,831 		JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,544,415...89,562,552
Ensembl chr 1:89,544,400...89,562,552 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,562,437...54,588,842
Ensembl chr10:54,562,437...54,588,810 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:89,981,743...90,008,354 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,079,409...90,081,556
Ensembl chr 1:90,078,552...90,081,556 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,408,968...153,435,092
Ensembl chr 5:153,409,147...153,435,961 		JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,521,338...54,546,569
Ensembl chr10:54,521,663...54,543,657 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:91,654,225...91,676,819 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147 		JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,612,230...54,616,375
Ensembl chr10:54,612,230...54,616,713 		JBrowse link
G Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,359,278...91,372,554
Ensembl chr 1:91,359,272...91,389,730 		JBrowse link
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,299,584...91,307,650
Ensembl chr 1:91,299,561...91,307,649 		JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,780,468...90,859,852 JBrowse link
G Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,543,768...91,557,553
Ensembl chr 1:91,543,768...91,557,553 		JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,437,741...90,453,073
Ensembl chr 1:90,438,224...90,453,073 		JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,916,906...89,934,663
Ensembl chr 1:89,919,524...89,936,804 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aase syndrome | 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:19191325 More... NCBI chr14:1,917,353...1,988,188
Ensembl chr14:1,917,324...1,988,678 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,250,262...90,262,592
Ensembl chr 1:90,243,532...90,262,594 		JBrowse link
G Dmrtc2 DMRT-like family C2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,594,120...89,601,761
Ensembl chr 1:89,594,215...89,601,762 		JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,641,450...54,766,502
Ensembl chr10:54,641,450...54,766,026 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,606,743...92,624,089
Ensembl chr 1:92,607,303...92,614,744 		JBrowse link
G E2f2 E2F transcription factor 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,682,789...153,706,087
Ensembl chr 5:153,682,789...153,706,087 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,773,282...54,780,727
Ensembl chr10:54,773,282...54,797,651 		JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,579,205...91,586,985
Ensembl chr 1:91,579,206...91,587,385 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,665,837...92,667,162
Ensembl chr 1:92,665,481...92,675,307 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,673,119...92,674,899 JBrowse link
G Eloa elongin A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,513,246...153,530,819
Ensembl chr 5:153,515,066...153,530,916 		JBrowse link
G Ephx4 epoxide hydrolase 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr14:2,488,282...2,517,558
Ensembl chr14:2,488,290...2,517,757 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:89,957,760...89,966,213 		JBrowse link
G Erich4 glutamate-rich 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,251,345...90,253,085
Ensembl chr 1:90,251,345...90,253,085 		JBrowse link
G Evi5 ecotropic viral integration site 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr14:2,020,524...2,166,593
Ensembl chr14:2,020,581...2,166,593 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,295,495...90,305,047
Ensembl chr 1:90,293,797...90,305,046 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,597,407...92,606,507
Ensembl chr 1:92,597,258...92,606,506 		JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,502,461...92,540,658
Ensembl chr 1:92,499,498...92,540,658 		JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISS 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 MouseDO NCBI chr13:105,117,402...105,139,780
Ensembl chr13:105,117,402...105,139,759 		JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,436,262...153,453,512
Ensembl chr 5:153,436,248...153,453,511 		JBrowse link
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,477,420...153,481,926
Ensembl chr 5:153,478,325...153,481,922 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:871527 PMID:3164080 PMID:8628290 PMID:9536098 PMID:11566888 More... NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr14:2,185,489...2,204,191
Ensembl chr14:2,187,286...2,196,730 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:25492299 RGD:11352737 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859 		JBrowse link
G Glmn glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr14:2,332,052...2,375,366
Ensembl chr14:2,332,497...2,375,695 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:17,145,936...17,160,733
Ensembl chr  X:17,145,938...17,160,619 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,057,760...153,089,890
Ensembl chr 5:153,057,760...153,089,890 		JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:89,733,741...89,794,962 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:89,943,669...89,953,593 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,453,753...54,478,639
Ensembl chr10:54,457,844...54,472,898 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:35213692 NCBI chr19:35,065,915...35,103,779
Ensembl chr19:35,067,060...35,103,978 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776 		JBrowse link
G Hfm1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr14:3,002,103...3,108,567
Ensembl chr14:3,001,906...3,084,401 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,938,308...91,948,680
Ensembl chr 1:91,938,278...91,948,683 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,461,738...153,475,552
Ensembl chr 5:153,461,769...153,475,604 		JBrowse link
G Hnrnpr heterogeneous nuclear ribonucleoprotein R ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,826,482...153,872,272
Ensembl chr 5:153,826,692...153,858,344 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,356,182...90,391,923
Ensembl chr 1:90,356,182...90,390,370 		JBrowse link
G Htr1d 5-hydroxytryptamine receptor 1D ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,939,735...153,960,012
Ensembl chr 5:153,939,516...153,960,012 		JBrowse link
G Id3 inhibitor of DNA binding 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,656,253...153,657,860
Ensembl chr 5:153,630,498...153,657,856 		JBrowse link
G Ifnlr1 interferon, lambda receptor 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,203,597...153,225,911
Ensembl chr 5:153,203,597...153,225,911 		JBrowse link
G Il22ra1 interleukin 22 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,245,067...153,269,865
Ensembl chr 5:153,245,002...153,271,683 		JBrowse link
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... NCBI chr11:81,235,204...81,276,249
Ensembl chr11:81,235,090...81,276,249 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,628,606...91,650,182
Ensembl chr 1:91,628,608...91,653,350 		JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,546,638...54,555,209
Ensembl chr10:54,546,618...54,553,357 		JBrowse link
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:154,066,436...154,121,913
Ensembl chr 5:154,065,543...154,121,775 		JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,619,520...54,641,014
Ensembl chr10:54,619,544...54,629,610 		JBrowse link
G Klf1 KLF transcription factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:40,155,476...40,158,651
Ensembl chr19:40,155,480...40,158,607 		JBrowse link
G Lgals5 galectin 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr10:64,351,976...64,355,137
Ensembl chr10:64,351,964...64,355,180 		JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,093,433...90,112,117
Ensembl chr 1:90,093,433...90,112,117 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,727,769...91,759,822
Ensembl chr 1:91,727,769...91,760,006 		JBrowse link
G Luzp1 leucine zipper protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,989,570...154,065,071
Ensembl chr 5:153,987,683...154,070,438 		JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,588,368...89,594,287
Ensembl chr 1:89,588,368...89,593,890 		JBrowse link
G Lypla2 lysophospholipase 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,481,973...153,486,692
Ensembl chr 5:153,481,974...153,486,601 		JBrowse link
G Map3k10 mitogen activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,083,376...92,101,676
Ensembl chr 1:92,083,376...92,101,676 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,030,057...90,079,423
Ensembl chr 1:90,030,388...90,079,422 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,601,326...91,603,019
Ensembl chr 1:91,601,327...91,603,019 		JBrowse link
G Myom3 myomesin 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,276,306...153,326,847
Ensembl chr 5:153,276,261...153,326,839 		JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,588,304...54,617,715
Ensembl chr10:54,592,990...54,617,715 		JBrowse link
G Numbl NUMB-like, endocytic adaptor protein ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,677,437...91,701,415
Ensembl chr 1:91,677,242...91,701,424 		JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:54,127,398...54,133,227
Ensembl chr10:54,127,611...54,133,285 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611 		JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,299,002...54,313,804
Ensembl chr10:54,302,641...54,314,211 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:54,189,157...54,210,685
Ensembl chr10:54,189,157...54,207,272 		JBrowse link
G Pithd1 PITH domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,489,529...153,500,025
Ensembl chr 5:153,489,529...153,500,261 		JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:91,949,467...91,961,207 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,779,449...92,792,610
Ensembl chr 1:92,779,449...92,792,610 		JBrowse link
G Pnrc2 proline-rich nuclear receptor coactivator 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,387,522...153,390,506
Ensembl chr 5:153,378,863...153,390,748 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr16:56,066...95,060
Ensembl chr16:56,066...95,060 		JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,810,153...89,897,560
Ensembl chr 1:89,812,093...89,897,564 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:90,012,307...90,017,988
Ensembl chr 1:90,014,027...90,017,997 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:91,911,999...91,937,235 		JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,476,690...92,485,268
Ensembl chr 1:92,476,690...92,485,060 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,589,047...91,600,426
Ensembl chr 1:91,589,047...91,600,337 		JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,691,884...89,695,017
Ensembl chr 1:89,691,884...89,695,017 		JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:54,176,325...54,177,696
Ensembl chr10:54,176,325...54,177,696 		JBrowse link
G Rnf227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,559,862...54,561,823
Ensembl chr10:54,559,739...54,561,818 		JBrowse link
G Rpap2 RNA polymerase II associated protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr14:2,253,966...2,332,251
Ensembl chr14:2,253,968...2,332,356 		JBrowse link
G Rpl11 ribosomal protein L11 ISO 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 More... NCBI chr 5:153,557,592...153,561,230
Ensembl chr 5:153,557,597...153,561,127 		JBrowse link
G Rpl17 ribosomal protein L17 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:39088281 NCBI chr18:70,856,275...70,859,388
Ensembl chr 3:111,722,010...111,722,638
Ensembl chr18:111,722,010...111,722,638 		JBrowse link
G Rpl19 ribosomal protein L19 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:83,514,509...83,522,352
Ensembl chr10:83,515,464...83,522,352 		JBrowse link
G 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:20522432 PMID:21056402 PMID:22267198 More... NCBI chr10:54,109,692...54,112,822
Ensembl chr10:54,109,362...54,112,822 		JBrowse link
G Rpl35a ribosomal protein L35A ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... NCBI chr11:81,231,114...81,235,094
Ensembl chr 5:163,826,849...163,827,306
Ensembl chr11:163,826,849...163,827,306 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aase syndrome | 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:19191325 More... NCBI chr14:1,988,792...1,995,236
Ensembl chr14:1,988,793...1,995,225 		JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr14:43,247,536...43,250,784
Ensembl chr14:43,247,588...43,250,782
Ensembl chr 1:43,247,588...43,250,782 		JBrowse link
G Rps10 ribosomal protein S10 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:16199547 PMID:17576681 PMID:20116044 PMID:20159986 More... NCBI chr20:5,696,135...5,700,863
Ensembl chr20:5,696,135...5,700,150
Ensembl chr 6:5,696,135...5,700,150 		JBrowse link
G Rps10l6 ribosomal protein S10 like 6 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:16199547 PMID:17576681 PMID:20116044 PMID:23718193 More... NCBI chr15:20,788,028...21,277,092
Ensembl chr15:20,787,968...20,788,849 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,770,658...92,773,603
Ensembl chr19:56,922,246...56,923,020
Ensembl chr 1:56,922,246...56,923,020 		JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 		CTD
ClinVar		 PMID:17647292 PMID:19953637 PMID:25741868 NCBI chr 1:144,705,150...144,707,736
Ensembl chr 1:144,705,149...144,707,734
Ensembl chr 8:144,705,149...144,707,734 		JBrowse link
G Rps19 ribosomal protein S19 ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 More... NCBI chr 1:89,608,408...89,614,390
Ensembl chr 7:104,324,520...104,325,132
Ensembl chr 1:104,324,520...104,325,132 		JBrowse link
G Rps20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:28492532 PMID:32790018 NCBI chr 5:21,616,687...21,618,068
Ensembl chr 3:42,839,965...43,095,621
Ensembl chr 9:42,839,965...43,095,621
Ensembl chr 5:42,839,965...43,095,621 		JBrowse link
G Rps24 ribosomal protein S24 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 More... NCBI chr16:95,429...101,146
Ensembl chr16:96,484...101,144 		JBrowse link
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19816270 PMID:20116044 PMID:21414820 PMID:22381658 More... NCBI chr 7:1,641,846...1,643,404
Ensembl chr 7:1,641,421...1,643,399 		JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:26136524 PMID:28492532 NCBI chr 6:50,994,581...50,999,447 JBrowse link
G Rpsa ribosomal protein SA ISS 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 MouseDO NCBI chr 8:128,728,761...128,732,736
Ensembl chr 8:128,728,862...128,732,737 		JBrowse link
G Scarna21 small Cajal body-specific RNA 21 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,569,767...54,569,906
Ensembl chr10:54,569,767...54,569,906 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,679,034...92,686,320
Ensembl chr 1:92,679,034...92,686,320 		JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,903,297...91,906,565
Ensembl chr 1:91,891,814...91,907,001 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,891,141...91,894,861
Ensembl chr 1:91,893,616...91,897,110 		JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,764,426...91,777,959
Ensembl chr 1:91,764,426...91,778,158 		JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:54,172,138...54,176,359
Ensembl chr10:54,172,202...54,197,016 		JBrowse link
G Snora66 small nucleolar RNA, H/ACA box 66 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr14:1,991,391...1,991,522
Ensembl chr14:1,991,391...1,991,522 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,273,655...54,273,790
Ensembl chr10:54,273,655...54,273,790 		JBrowse link
G Snord21 small nucleolar RNA, C/D box 21 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr14:1,992,069...1,992,162
Ensembl chr14:1,992,069...1,992,162 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,609,419...91,618,119
Ensembl chr 1:91,609,420...91,618,042 		JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:91,778,380...91,865,049 		JBrowse link
G Srsf10 serine and arginine rich splicing factor 10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,372,307...153,386,520
Ensembl chr 5:153,372,316...153,386,513 		JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,714,276...92,745,489
Ensembl chr 1:92,714,281...92,744,445 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:17,093,059...17,105,942
Ensembl chr  X:17,092,986...17,105,942 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:146,828,818...146,831,485 JBrowse link
G Tcea3 transcription elongation factor A3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,760,401...153,792,934
Ensembl chr 5:153,760,407...153,792,930 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tgfbr3 transforming growth factor beta receptor 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr14:2,634,294...2,810,269
Ensembl chr14:2,634,188...2,810,271 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,702,437...92,710,311
Ensembl chr 1:92,702,437...92,710,311 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,019,727...90,029,432
Ensembl chr 1:90,019,745...90,029,427 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,617,554...54,619,309
Ensembl chr10:54,617,630...54,619,438 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:90,307,264...90,314,796
Ensembl chr 1:90,306,289...90,313,320 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,544,406...54,545,992
Ensembl chr10:54,544,262...54,546,140 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,081,026...92,083,208
Ensembl chr 1:92,080,806...92,083,203 		JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,292,423...54,296,657
Ensembl chr10:54,292,806...54,296,654 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:17,077,057...17,085,802
Ensembl chr  X:17,073,314...17,085,802 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,773,282...54,797,651 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr12:32,664,312...32,676,940
Ensembl chr12:32,650,373...32,677,739 		JBrowse link
G Zfp46 zinc finger protein 46 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:153,802,887...153,813,388
Ensembl chr 5:153,802,834...153,812,941 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,935,604...89,945,669
Ensembl chr 1:89,933,478...89,956,958 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:89,760,956...89,813,198 		JBrowse link
G Znf780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:92,136,761...92,159,076 JBrowse link
Diamond-Blackfan anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr14:1,917,353...1,988,188
Ensembl chr14:1,917,324...1,988,678 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 PMID:35213692 NCBI chr19:35,065,915...35,103,779
Ensembl chr19:35,067,060...35,103,978 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr14:1,988,792...1,995,236
Ensembl chr14:1,988,793...1,995,225 		JBrowse link
G 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 More... NCBI chr 1:89,608,408...89,614,390
Ensembl chr 7:104,324,520...104,325,132
Ensembl chr 1:104,324,520...104,325,132 		JBrowse link
Diamond-Blackfan anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf4 IKAROS family zinc finger 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:23812780 More... NCBI chr 7:1,643,379...1,687,524
Ensembl chr 7:1,644,799...1,687,094 		JBrowse link
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 | ClinVar Annotator: match by term: RPS26-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More... NCBI chr 7:1,641,846...1,643,404
Ensembl chr 7:1,641,421...1,643,399 		JBrowse link
G Suox sulfite oxidase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:28492532 NCBI chr 7:1,687,666...1,691,759
Ensembl chr 7:1,687,666...1,690,235 		JBrowse link
Diamond-Blackfan anemia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 OMIM
ClinVar		 PMID:22431104 PMID:25741868 PMID:28492532 NCBI chr10:54,109,692...54,112,822
Ensembl chr10:54,109,362...54,112,822 		JBrowse link
Diamond-Blackfan anemia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkiras1 NFKB inhibitor interacting Ras-like 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition ClinVar PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 NCBI chr15:9,924,316...9,934,538
Ensembl chr15:9,924,326...9,935,877 		JBrowse link
G Rpl15 ribosomal protein L15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition OMIM
ClinVar		 PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 NCBI chr15:9,934,663...9,937,946
Ensembl chr15:9,934,679...9,938,308 		JBrowse link
Diamond-Blackfan anemia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 6:93,371,293...93,372,731
Ensembl chr13:87,816,954...87,817,267
Ensembl chr 6:87,816,954...87,817,267 		JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: TSR2-related condition ClinVar PMID:24033266 PMID:28492532 NCBI chr  X:23,466,791...23,509,773
Ensembl chr  X:23,467,530...23,509,979 		JBrowse link
G 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:24033266 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:23,507,141...23,515,711
Ensembl chr  X:23,507,142...23,515,659 		JBrowse link
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 7:1,641,846...1,643,404
Ensembl chr 7:1,641,421...1,643,399 		JBrowse link
G 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 chr 7:15,309,964...15,311,333
Ensembl chr16:72,591,164...72,591,373
Ensembl chr 7:72,591,164...72,591,373
Ensembl chr16:72,591,164...72,591,373 		JBrowse link
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:23,507,141...23,515,711
Ensembl chr  X:23,507,142...23,515,659 		JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr10:86,875,758...86,879,457
Ensembl chr10:86,876,024...86,879,441 		JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 2:177,963,499...177,964,708
Ensembl chr 2:177,963,496...177,964,607
Ensembl chr12:177,963,496...177,964,607 		JBrowse link
Diamond-Blackfan anemia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl18 ribosomal protein L18 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 | ClinVar Annotator: match by term: RPL18-related condition OMIM
ClinVar		 PMID:25741868 PMID:28280134 PMID:28492532 NCBI chr 1:105,325,269...105,327,911
Ensembl chr 1:105,325,250...105,327,910 		JBrowse link
Diamond-Blackfan anemia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl35 ribosomal protein L35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 | ClinVar Annotator: match by term: RPL35-related condition OMIM
ClinVar		 PMID:28280134 PMID:28492532 NCBI chr 3:43,162,960...43,166,485
Ensembl chr 3:43,162,764...43,165,947 		JBrowse link
Diamond-Blackfan anemia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps15a ribosomal protein S15a ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 ClinVar
OMIM		 PMID:27909223 NCBI chr 1:181,854,396...181,861,330
Ensembl chr 1:181,854,396...181,861,201 		JBrowse link
Diamond-Blackfan Anemia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 OMIM
ClinVar		 PMID:25741868 PMID:35213692 NCBI chr19:35,065,915...35,103,779
Ensembl chr19:35,067,060...35,103,978 		JBrowse link
Diamond-Blackfan anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr16:56,066...95,060
Ensembl chr16:56,066...95,060 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 | ClinVar Annotator: match by term: RPS24-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 More... NCBI chr16:95,429...101,146
Ensembl chr16:96,484...101,144 		JBrowse link
Diamond-Blackfan anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 		OMIM
CTD
ClinVar		 PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 NCBI chr 1:144,705,150...144,707,736
Ensembl chr 1:144,705,149...144,707,734
Ensembl chr 8:144,705,149...144,707,734 		JBrowse link
Diamond-Blackfan anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fyttd1 forty-two-three domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr11:81,383,040...81,412,604
Ensembl chr11:81,383,040...81,412,599 		JBrowse link
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... NCBI chr11:81,235,204...81,276,249
Ensembl chr11:81,235,090...81,276,249 		JBrowse link
G Lrch3 leucine rich repeats and calponin homology domain containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr11:81,277,581...81,377,339
Ensembl chr11:81,277,581...81,377,337 		JBrowse link
G Rpl35a ribosomal protein L35A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition
CTD Direct Evidence: marker/mechanism
DNA:deletions, duplication:multiple (human)
DNA:deletions, snps:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... RGD:11535072, RGD:11535069 NCBI chr11:81,231,114...81,235,094
Ensembl chr 5:163,826,849...163,827,306
Ensembl chr11:163,826,849...163,827,306 		JBrowse link
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr11:81,420,261...81,469,415
Ensembl chr11:81,412,617...81,469,424 		JBrowse link
Diamond-Blackfan anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More... NCBI chr14:1,917,353...1,988,188
Ensembl chr14:1,917,324...1,988,678 		JBrowse link
G Rpl5 ribosomal protein L5 ISO
ISS 		ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
OMIM:612561
DNA:mutations:multiple (human)
DNA:snps, deletions, insertions:exons, introns:multiple (human)
DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human)
DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human)
DNA:snps, duplication, deletions:exons:multiple (human) 		OMIM
ClinVar
MouseDO
RGD		 PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More... RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128, RGD:11535122 NCBI chr14:1,988,792...1,995,236
Ensembl chr14:1,988,793...1,995,225 		JBrowse link
Diamond-Blackfan anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl11 ribosomal protein L11 ISO
ISS 		ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
OMIM:612562
CTD Direct Evidence: marker/mechanism
DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)
DNA:mutations:multiple (human)
DNA:deletions:exons:g.58_59delCT, g.460delA (human)
DNA:deletions, snp:exons, introns:multiple (human)
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132, RGD:11535122 NCBI chr 5:153,557,592...153,561,230
Ensembl chr 5:153,557,597...153,561,127 		JBrowse link
Diamond-Blackfan anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adi1 acireductone dioxygenase 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 6:51,035,267...51,042,229
Ensembl chr 6:51,034,931...51,042,855 		JBrowse link
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:50,952,357...50,999,493 		JBrowse link
G Rnaseh1 ribonuclease H1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 6:51,011,244...51,020,638
Ensembl chr 6:51,011,234...51,020,627 		JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 More... NCBI chr 6:50,994,581...50,999,447 JBrowse link
G Trappc12 trafficking protein particle complex subunit 12 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 6:51,049,878...51,115,343
Ensembl chr 6:51,049,878...51,115,297 		JBrowse link
Diamond-Blackfan anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 More... NCBI chr20:5,696,135...5,700,863
Ensembl chr20:5,696,135...5,700,150
Ensembl chr 6:5,696,135...5,700,150 		JBrowse link
G Rps10l6 ribosomal protein S10 like 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 ClinVar PMID:9536098 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 More... NCBI chr15:20,788,028...21,277,092
Ensembl chr15:20,787,968...20,788,849 		JBrowse link
Diamond-Blackfan Anemia-Like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epo erythropoietin ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar
OMIM		 PMID:28283061 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar PMID:28492532 PMID:29681510 PMID:34162668 NCBI chr14:90,468,696...90,556,522
Ensembl chr14:90,469,172...90,557,574 		JBrowse link
Diarrhea prodrome + Hemolytic-Uremic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,829,832...55,854,560 		JBrowse link
Distal Renal Tubular Acidosis 4 with Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 NCBI chr18:61,849,821...62,093,876
Ensembl chr18:61,853,149...62,094,075 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 PMID:30028003 NCBI chr 8:83,718,897...83,902,128
Ensembl chr 8:83,718,914...83,900,286 		JBrowse link
Drug-induced Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with breast cancer RGD PMID:23812950 RGD:10755330 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with breast cancer RGD PMID:23812950 RGD:10755330 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Ifnl3 interferon, lambda 3 severity ISO associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) RGD PMID:26933517 RGD:11528554 NCBI chr 1:92,941,988...92,943,628 JBrowse link
Elliptocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41 erythrocyte membrane protein band 4.1 ISO ClinVar Annotator: match by term: Elliptocytosis 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1430200 PMID:2384597 PMID:2384598 PMID:3134067 PMID:3194408 More... NCBI chr 5:149,394,080...149,548,178
Ensembl chr 5:149,394,096...149,543,540 		JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar PMID:25741868 NCBI chr13:88,813,861...88,814,802
Ensembl chr13:88,813,861...88,814,802 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
Elliptocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | ClinVar Annotator: match by term: Elliptocytosis 3 OMIM
ClinVar		 PMID:1391962 PMID:1498324 PMID:7883966 PMID:8667615 PMID:8844207 More... NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:53,760,885...53,797,125
Ensembl chr 9:53,761,331...53,797,118 		JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:53,690,704...53,728,801
Ensembl chr 9:53,690,786...53,727,639 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:53,801,471...53,846,611
Ensembl chr 9:53,801,714...53,875,084 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr15:107,442,800...108,086,486
Ensembl chr15:107,451,634...108,085,808 		JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:53,625,473...53,637,220
Ensembl chr 9:53,626,093...53,637,204 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:53,748,484...53,801,453
Ensembl chr 9:53,740,998...53,760,588 		JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr16:91,088,089...91,111,025
Ensembl chr16:91,076,423...91,111,025 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 9:53,735,512...53,744,672
Ensembl chr 9:53,735,512...53,741,042 		JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25414442 PMID:25640679 More... NCBI chr 9:53,538,788...53,620,253
Ensembl chr 9:53,538,313...53,620,251 		JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome
DNA:mutation:cds:c.412G>A (p.E138K)(human) 		OMIM
CTD
ClinVar
RGD		 PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275 RGD:11344905 NCBI chr 3:161,686,193...161,699,605
Ensembl chr 3:161,689,017...161,699,602 		JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:33,925,458...33,972,851
Ensembl chr  X:33,925,458...33,971,596 		JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,743,660...67,784,109
Ensembl chr19:67,743,490...67,784,084 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,848,836...68,007,491
Ensembl chr19:67,848,844...68,007,491 		JBrowse link
G Aopep aminopeptidase O 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 PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chr17:1,817,001...2,133,008
Ensembl chr17:1,817,001...2,133,104 		JBrowse link
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:34,204,601...34,230,819
Ensembl chr  X:34,204,603...34,228,529 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,534,737...67,537,027 JBrowse link
G Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:33,646,389...33,669,790
Ensembl chr  X:33,624,394...33,669,934 		JBrowse link
G Asb9 ankyrin repeat and SOCS box-containing 9 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:33,588,484...33,633,285
Ensembl chr  X:33,588,484...33,624,397 		JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:66,916,417...66,994,286
Ensembl chr19:66,916,267...66,991,317 		JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:33,859,128...33,921,876
Ensembl chr  X:33,859,129...33,921,874 		JBrowse link
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia 		ClinVar
RGD		 PMID:9536098 PMID:11030417 PMID:11185744 PMID:11430722 PMID:12228710 More... RGD:734658 NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia 		CTD
ClinVar		 PMID:2455662 PMID:3375802 PMID:11301010 PMID:14983014 PMID:16116421 More... NCBI chr10:71,402,035...71,528,083
Ensembl chr10:71,401,151...71,575,206 		JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17436244 PMID:28492532 NCBI chr 4:148,306,436...148,321,668
Ensembl chr 4:148,306,398...148,321,984 		JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:66,881,678...66,911,486
Ensembl chr19:66,881,693...66,911,486 		JBrowse link
G Ca5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:34,106,553...34,166,651
Ensembl chr  X:34,067,403...34,166,653 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,584,319...67,658,533
Ensembl chr19:67,589,258...67,658,136 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,812,169...67,834,986
Ensembl chr19:67,812,164...67,834,985 		JBrowse link
G Cdk10 cyclin-dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr19:68,168,040...68,184,923
Ensembl chr19:68,169,874...68,177,599 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,529,249...67,534,195
Ensembl chr19:67,529,201...67,534,194 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:68,146,672...68,154,952
Ensembl chr19:68,146,672...68,154,952 		JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:33,993,825...34,027,124
Ensembl chr  X:33,993,825...34,027,181 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:68,072,165...68,091,197
Ensembl chr19:68,074,545...68,091,197 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,447,762...67,453,169
Ensembl chr19:67,447,487...67,453,163 		JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,396,143...67,404,214
Ensembl chr19:67,396,143...67,404,214 		JBrowse link
G Dbndd1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr19:68,447,641...68,461,272
Ensembl chr19:68,447,635...68,458,797 		JBrowse link
G Def8 differentially expressed in FDCP 8 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr19:68,383,293...68,404,133
Ensembl chr19:68,383,349...68,404,125 		JBrowse link
G Dorip1 dopamine receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 6:88,701,651...88,710,204
Ensembl chr 6:88,701,818...88,708,820 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:68,118,270...68,143,781
Ensembl chr19:68,118,453...68,143,775 		JBrowse link
G Fanca FA complementation group A disease_progression ISO DNA:missense mutations, splice-site mutations:exon, intron:multiple
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
CTD Direct Evidence: marker/mechanism
DNA:deletions, transitions:exon, intron:multiple 		ClinVar
CTD
RGD		 PMID:1273304 PMID:1792455 PMID:1927896 PMID:2472832 PMID:6720839 More... RGD:11344899, RGD:11344919, RGD:11344914 NCBI chr19:68,210,562...68,271,080
Ensembl chr19:68,212,643...68,271,019 		JBrowse link
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 More... NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:33,035,387...33,051,808 		JBrowse link
G Fancc FA complementation group C onset ISO DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(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
CTD Direct Evidence: marker/mechanism
DNA:deletion: :322delG (human) 		ClinVar
CTD
RGD		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11041907, RGD:11344914 NCBI chr17:1,686,374...1,818,672
Ensembl chr17:1,687,017...1,835,096 		JBrowse link
G Fancd2 FA complementation group D2 ISO DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:11239453 PMID:14667412 PMID:14695169 PMID:16199547 More... RGD:1601137, RGD:11344904 NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:148,234,708...148,299,035 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 More... NCBI chr 4:148,296,478...148,303,037
Ensembl chr 4:148,296,552...148,303,328 		JBrowse link
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 More... NCBI chr20:6,371,153...6,388,366
Ensembl chr20:6,377,234...6,388,365 		JBrowse link
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 More... NCBI chr 1:110,585,054...110,587,870
Ensembl chr 1:110,576,389...110,587,863 		JBrowse link
G Fancg FA complementation group G ISO FANCG, OMIM:602956
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... RGD:1599879 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787 		JBrowse link
G Fanci FA complementation group I ISO DNA:mutations: :multiple
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 anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar
RGD		 PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 More... RGD:11344925 NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:142,736,653...142,792,999 		JBrowse link
G Fancl FA complementation group L ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr14:104,449,403...104,515,297
Ensembl chr14:104,394,590...104,515,297 		JBrowse link
G Fancm FA complementation group M ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		CTD
ClinVar		 PMID:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 More... NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:88,863,306...88,921,652 		JBrowse link
G Fkbp3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 6:88,850,137...88,862,542
Ensembl chr 6:88,843,879...88,863,447 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:104,751,518...104,756,925
Ensembl chr 1:104,749,983...104,757,038 		JBrowse link
G Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 6:88,264,133...88,266,925
Ensembl chr 6:88,109,663...88,266,941 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,537,175...67,570,900
Ensembl chr19:67,534,737...67,571,191 		JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr19:68,461,280...68,480,810
Ensembl chr19:68,461,304...68,480,806 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 disease_progression ISO RGD PMID:16173971 RGD:10450839 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO RGD PMID:16173971 RGD:10450839 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,393,435...67,394,714
Ensembl chr19:67,393,435...67,394,714 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:66,702,497...66,763,948
Ensembl chr19:66,702,680...66,763,937 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:66,769,558...66,802,626
Ensembl chr19:66,769,558...66,838,346 		JBrowse link
G Klhl28 kelch-like family member 28 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 6:88,723,624...88,755,072
Ensembl chr 6:88,727,205...88,752,457 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr19:68,360,950...68,363,877
Ensembl chr19:68,360,950...68,363,877 		JBrowse link
G Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:33,052,063...33,105,550
Ensembl chr  X:33,052,004...33,107,635 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,404,911...67,414,974
Ensembl chr19:67,404,911...67,422,366 		JBrowse link
G Mx1 MX dynamin like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr11:50,269,056...50,294,699
Ensembl chr11:50,269,057...50,292,904 		JBrowse link
G Pabpn1l PABPN1 like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,578,494...67,581,938
Ensembl chr19:67,578,496...67,581,895 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:24136930 More... NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:186,096,312...186,120,302 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,453,120...67,515,347
Ensembl chr19:67,453,122...67,515,037 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:33,672,832...33,687,747
Ensembl chr  X:33,674,923...33,687,636 		JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:33,740,428...33,851,049
Ensembl chr  X:33,740,429...33,851,049 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Prf1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124 		JBrowse link
G Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 6:88,825,227...88,851,342
Ensembl chr 6:88,825,243...88,851,341 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Rad51c RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		CTD
ClinVar		 PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 More... NCBI chr10:72,702,299...72,728,980
Ensembl chr10:72,702,299...72,729,143 		JBrowse link
G Rfwd3 ring finger and WD repeat domain 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:25741868 NCBI chr19:56,145,221...56,177,871
Ensembl chr19:56,145,221...56,177,815 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,437,974...67,447,814
Ensembl chr19:67,437,974...67,447,814 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:68,062,442...68,065,065
Ensembl chr19:68,062,493...68,065,059 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:66,843,808...66,872,412
Ensembl chr19:66,843,808...66,872,412 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 More... NCBI chr10:12,032,131...12,055,685
Ensembl chr10:12,033,048...12,055,650 		JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,425,311...67,437,830
Ensembl chr19:67,425,157...67,434,268 		JBrowse link
G Spata2L spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr19:68,177,599...68,182,122
Ensembl chr19:68,176,615...68,182,069 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr19:68,155,033...68,167,415
Ensembl chr19:68,155,326...68,167,262 		JBrowse link
G Spire2 spire-type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:25741868 PMID:28492532 PMID:29098742 NCBI chr19:68,281,878...68,320,427
Ensembl chr19:68,281,870...68,320,427 		JBrowse link
G Tcf25 TCF25 ribosome quality control complex subunit ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr19:68,323,789...68,358,226
Ensembl chr19:68,323,867...68,358,240 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:22628295 PMID:8438880 PMID:24021704 RGD:10450524, RGD:11049161 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 6:88,755,264...88,819,599
Ensembl chr 6:88,755,264...88,819,598 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,570,954...67,574,722 JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr19:68,365,687...68,374,741
Ensembl chr19:68,365,587...68,374,740 		JBrowse link
G Usp1 ubiquitin specific peptidase 1 ISS MouseDO NCBI chr 5:118,703,056...118,714,426
Ensembl chr 5:118,702,868...118,714,434 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:33,704,582...33,740,305
Ensembl chr  X:33,706,055...33,740,167 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:16199547 PMID:17436244 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr19:68,185,517...68,199,469
Ensembl chr19:68,185,517...68,199,244 		JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:12973351 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 More... NCBI chr14:104,514,815...104,635,549
Ensembl chr14:104,514,100...104,720,933 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,344,422...67,388,400
Ensembl chr19:67,343,434...67,388,399 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:27,235,912...27,261,879
Ensembl chr 8:27,241,522...27,261,331 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 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 More... NCBI chr19:68,199,709...68,212,757
Ensembl chr19:68,199,265...68,212,757 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,190,901...67,232,569
Ensembl chr19:67,190,901...67,232,569 		JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr19:67,242,922...67,299,149
Ensembl chr19:67,179,751...67,299,149 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:34,179,279...34,201,989
Ensembl chr  X:34,179,311...34,201,986 		JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 More... NCBI chr17:1,817,001...2,133,008
Ensembl chr17:1,817,001...2,133,104 		JBrowse link
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 More... NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763 		JBrowse link
G Cdk10 cyclin-dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr19:68,168,040...68,184,923
Ensembl chr19:68,169,874...68,177,599 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr19:68,146,672...68,154,952
Ensembl chr19:68,146,672...68,154,952 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr19:68,072,165...68,091,197
Ensembl chr19:68,074,545...68,091,197 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr19:68,118,270...68,143,781
Ensembl chr19:68,118,453...68,143,775 		JBrowse link
G Fanca FA complementation group A ISO
ISS 		ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A
OMIM:227650 		OMIM
ClinVar
MouseDO		 PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:6720839 More... NCBI chr19:68,210,562...68,271,080
Ensembl chr19:68,212,643...68,271,019 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:33,035,387...33,051,808 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08348157 PMID:08844212 PMID:8882868 PMID:9521584 More... NCBI chr17:1,686,374...1,818,672
Ensembl chr17:1,687,017...1,835,096 		JBrowse link
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:25927356 PMID:28492532 More... NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:148,234,708...148,299,035 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:25927356 PMID:28492532 PMID:36622392 NCBI chr 4:148,296,478...148,303,037
Ensembl chr 4:148,296,552...148,303,328 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:142,736,653...142,792,999 		JBrowse link
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 More... NCBI chr14:104,449,403...104,515,297
Ensembl chr14:104,394,590...104,515,297 		JBrowse link
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 More... NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:88,863,306...88,921,652 		JBrowse link
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 More... NCBI chr10:12,032,131...12,055,685
Ensembl chr10:12,033,048...12,055,650 		JBrowse link
G Spata2L spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr19:68,177,599...68,182,122
Ensembl chr19:68,176,615...68,182,069 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr19:68,155,033...68,167,415
Ensembl chr19:68,155,326...68,167,262 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr19:68,185,517...68,199,469
Ensembl chr19:68,185,517...68,199,244 		JBrowse link
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 More... NCBI chr14:104,514,815...104,635,549
Ensembl chr14:104,514,100...104,720,933 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 More... NCBI chr19:68,199,709...68,212,757
Ensembl chr19:68,199,265...68,212,757 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25168418 NCBI chr19:67,190,901...67,232,569
Ensembl chr19:67,190,901...67,232,569 		JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8368240 PMID:15502827 PMID:16199547 PMID:16679491 PMID:17924555 More... NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:33,035,387...33,051,808 		JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chr17:1,817,001...2,133,008
Ensembl chr17:1,817,001...2,133,104 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:25741868 NCBI chr 2:193,998,350...194,006,873
Ensembl chr 2:193,998,354...194,006,864 		JBrowse link
G Fancc FA complementation group C ISO
ISS 		ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C
OMIM:227645 		OMIM
ClinVar
MouseDO		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... NCBI chr17:1,686,374...1,818,672
Ensembl chr17:1,687,017...1,835,096 		JBrowse link
Fanconi anemia complementation group D1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated susceptibility ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group D1
OMIM:605724 		CTD
OMIM
ClinVar
MouseDO		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
Fanconi anemia complementation group D2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr10:71,402,035...71,528,083
Ensembl chr10:71,401,151...71,575,206 		JBrowse link
G Fancd2 FA complementation group D2 ISO
ISS 		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D | ClinVar Annotator: match by term: Fanconi anemia complementation group D2
OMIM:227646 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 More... NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:148,234,708...148,299,035 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 More... NCBI chr 4:148,296,478...148,303,037
Ensembl chr 4:148,296,552...148,303,328 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:25741868 NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:158,956,974...158,982,733 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D ClinVar PMID:16199547 PMID:17436244 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		JBrowse link
Fanconi anemia complementation group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia complementation group E OMIM
ClinVar		 PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More... NCBI chr20:6,371,153...6,388,366
Ensembl chr20:6,377,234...6,388,365 		JBrowse link
Fanconi anemia complementation group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancf FA complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia complementation group F OMIM
ClinVar		 PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr 1:110,585,054...110,587,870
Ensembl chr 1:110,576,389...110,587,863 		JBrowse link
Fanconi anemia complementation group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group G OMIM
ClinVar		 PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Fanconi anemia complementation group G ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387 		JBrowse link
Fanconi anemia complementation group I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 More... RGD:11344924 NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:142,736,653...142,792,999 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I ClinVar PMID:18414213 PMID:22237560 PMID:22778927 PMID:23524600 PMID:25488682 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
Fanconi anemia complementation group J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brip1 BRCA1 interacting DNA helicase 1 susceptibility ISO DNA:nonsense mutation:cds:p.R798* (human)
ClinVar Annotator: match by term: Fanconi anemia complementation group J
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 More... RGD:11251781 NCBI chr10:71,402,035...71,528,083
Ensembl chr10:71,401,151...71,575,206 		JBrowse link
Fanconi anemia complementation group L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr14:104,449,403...104,515,297
Ensembl chr14:104,394,590...104,515,297 		JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr14:104,514,815...104,635,549
Ensembl chr14:104,514,100...104,720,933 		JBrowse link
Fanconi Anemia Complementation Group M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group M ClinVar PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:26467025 More... NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:88,863,306...88,921,652 		JBrowse link
Fanconi anemia complementation group N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Palb2 partner and localizer of BRCA2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group N 		CTD
OMIM
ClinVar		 PMID:100849 PMID:9536098 PMID:17200668 PMID:17200671 PMID:17200672 More... NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:186,096,312...186,120,302 		JBrowse link
Fanconi anemia complementation group O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsf5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr10:72,913,730...72,957,649
Ensembl chr10:72,914,382...72,957,648 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr10:72,890,665...72,913,598
Ensembl chr10:72,889,827...72,913,598 		JBrowse link
G Rad51c RAD51 paralog C susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition ClinVar
OMIM		 PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 More... NCBI chr10:72,702,299...72,728,980
Ensembl chr10:72,702,299...72,729,143 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr10:72,958,744...73,034,540
Ensembl chr10:72,961,641...73,034,551 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr10:72,863,969...72,888,018
Ensembl chr10:72,864,014...72,888,019 		JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr10:72,729,017...72,859,697
Ensembl chr10:72,728,985...72,853,064 		JBrowse link
Fanconi anemia complementation group P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr10:12,032,131...12,055,685
Ensembl chr10:12,033,048...12,055,650 		JBrowse link
Fanconi anemia complementation group Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr10:2,926,085...2,958,176
Ensembl chr10:2,920,455...2,955,539 		JBrowse link
Fanconi anemia complementation group R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr 3:126,554,210...126,578,888
Ensembl chr 3:126,554,190...126,579,469 		JBrowse link
Fanconi anemia complementation group S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763 		JBrowse link
Fanconi anemia complementation group T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:25741868 NCBI chr11:95,528,831...95,637,565
Ensembl chr11:95,528,831...95,638,549 		JBrowse link
G Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:26046368 NCBI chr13:48,976,193...49,095,870
Ensembl chr13:48,976,193...49,095,857 		JBrowse link
G Ube2t ubiquitin-conjugating enzyme E2T ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T OMIM
ClinVar		 PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532 NCBI chr13:48,955,166...48,965,668
Ensembl chr13:48,955,183...48,966,646 		JBrowse link
Fanconi anemia complementation group U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 4:10,157,130...10,237,089
Ensembl chr 4:10,157,800...10,176,407 		JBrowse link
Fanconi anemia complementation group V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad2l2 mitotic arrest deficient 2 like 2 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 NCBI chr 5:163,846,678...163,859,851
Ensembl chr 5:163,846,687...163,859,851 		JBrowse link
Fanconi anemia complementation group W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr19:56,145,221...56,177,871
Ensembl chr19:56,145,221...56,177,815 		JBrowse link
Fanconi-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slx1b SLX1 homolog B, structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr 1:190,716,759...190,722,307
Ensembl chr 1:190,714,490...190,722,307 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr10:12,032,131...12,055,685
Ensembl chr10:12,033,048...12,055,650 		JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,579,669...156,601,448
Ensembl chr  X:156,579,785...156,601,446 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,787,566...156,802,841
Ensembl chr  X:156,783,776...156,802,450 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:156,367,852...156,438,153 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:157,225,327...157,238,323 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,785,009...156,787,477
Ensembl chr  X:156,785,139...156,787,477 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:156,548,911...156,579,371 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:156,348,615...156,360,799 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr 9:2,073,927...2,076,469
Ensembl chr 9:2,073,184...2,084,185 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr10:64,144,560...64,145,723
Ensembl chr10:64,144,555...64,145,911 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr20:154,630...169,655
Ensembl chr20:154,255...169,648 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr18:139,382...147,037 JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:148,567,674...148,568,972
Ensembl chr  X:148,567,674...148,568,968 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,751,651...157,757,796
Ensembl chr  Y:380,743...385,405
Ensembl chr  X:380,743...385,405 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,208,230...157,216,812
Ensembl chr  X:157,208,230...157,216,711 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:156,503,237...156,507,162
Ensembl chr  X:156,503,190...156,507,161 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:157,189,819...157,197,095 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr18:155,237...187,186
Ensembl chr18:155,309...186,683 		JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,977,859...155,979,373
Ensembl chr  X:155,976,941...156,108,974 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,317,993...157,326,640
Ensembl chr  X:157,317,990...157,326,612 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,246,533...157,253,650
Ensembl chr  X:157,246,533...157,253,650 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr18:142,829...155,123
Ensembl chr18:142,640...155,674 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO
ISS 		CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar
MouseDO		 PMID:5448 PMID:16832 PMID:472761 PMID:511159 PMID:736032 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,238,900...157,245,562
Ensembl chr  X:157,238,892...157,245,560 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:86,566,994...86,567,568
Ensembl chr  X:86,566,994...86,567,568 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:156,306,320...156,331,940
Ensembl chr  X:156,306,320...156,352,158 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:156,839,100...156,863,813 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:156,666,577...156,675,799 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 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 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:157,367,639...157,392,757 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:156,920,081...156,929,825 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:156,748,597...156,775,077 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,289,497...157,290,920 JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr18:142,416...144,482
Ensembl chr18:140,152...146,517 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:156,807,378...156,812,574 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:155,817,340...155,848,220 		JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,056,355...157,076,716
Ensembl chr  X:157,056,355...157,076,716 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,681,717...156,712,031
Ensembl chr  X:156,681,717...156,713,028 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:157,267,107...157,282,891 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,645,505...156,660,011
Ensembl chr  X:156,645,182...156,660,003 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:156,520,751...156,524,828
Ensembl chr  X:156,520,753...156,525,352 		JBrowse link
G Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,946,428...155,952,761
Ensembl chr  X:155,948,069...155,955,308 		JBrowse link
G Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,923,131...155,925,055
Ensembl chr  X:155,923,131...155,925,055 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:156,254,009...156,259,971
Ensembl chr  X:156,254,872...156,259,971 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,812,785...156,821,860
Ensembl chr  X:156,812,411...156,821,838 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,205,850...157,208,057
Ensembl chr  X:157,205,836...157,208,049 		JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,306,043...157,309,849
Ensembl chr  X:157,303,915...157,309,793 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,536,017...156,545,321
Ensembl chr  X:156,536,017...156,545,321 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:156,661,875...156,666,531 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:156,675,658...156,679,545
Ensembl chr  X:156,675,566...156,679,543 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,216,826...157,230,524
Ensembl chr  X:157,216,554...157,225,287 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,076,824...157,110,988
Ensembl chr  X:157,076,609...157,093,768 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,105,455...157,138,510
Ensembl chr  X:157,105,495...157,138,503 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:156,303,203...156,304,811
Ensembl chr  X:156,303,203...156,304,811 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:157,302,528...157,305,380
Ensembl chr  X:157,304,254...157,305,380 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,874,138...155,919,921
Ensembl chr  X:155,874,127...155,917,077 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:156,268,220...156,293,790
Ensembl chr  X:156,268,234...156,294,516 		JBrowse link
Folate-Responsive Megaloblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: SLC19A1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,583,929...11,601,488 		JBrowse link
folic acid deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310277 NCBI chr 2:25,320,895...25,346,004 JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
Ghosal hematodiaphyseal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8702713 PMID:17203301 PMID:18264100 PMID:19114962 PMID:22735388 More... NCBI chr 4:68,631,841...68,803,959
Ensembl chr 4:68,631,838...68,803,969 		JBrowse link
glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency 		CTD
ClinVar		 PMID:5448 PMID:16832 PMID:472761 PMID:736032 PMID:848857 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Ifng interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: G6PD deficiency ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:157,367,639...157,392,757 		JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP:promoter:-592A>C (human)
DNA:SNPs:promoter:-1082G>A, -819T>C (human) 		RGD PMID:15718915 PMID:15718915 RGD:11049178, RGD:11049178 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glutathione peroxidase deficiency 		OMIM
CTD
ClinVar		 PMID:10220143 PMID:25741868 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
Glyoxalase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hagh hydroxyacyl glutathione hydrolase ISO OMIM NCBI chr10:14,379,400...14,394,046
Ensembl chr10:14,382,410...14,394,043 		JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia | ClinVar Annotator: match by term: MOTH-EATEN SKELETAL DYSPLASIA
DNA:mutations:cds:multiple (human) 		OMIM
ClinVar
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr13:96,071,058...96,095,709
Ensembl chr13:96,071,081...96,095,709 		JBrowse link
Heinz body anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase treatment ISO RGD PMID:20692194 RGD:11059501 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1634361 PMID:1686260 PMID:1787098 PMID:2298455 PMID:2468982 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,828,377...15,829,141 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:13856 PMID:620088 PMID:1155453 PMID:1281602 PMID:1581238 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,816,096...15,817,167 		JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:deletion:CDS:p.F41del, p.F42del (human)
ClinVar Annotator: match by term: HEMOGLOBIN BRISTOL | ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:14973 PMID:81926 PMID:88735 PMID:186485 PMID:711920 More... RGD:1600889 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency 		CTD
OMIM
ClinVar		 PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More... NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
hemoglobin C disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN C ClinVar
RGD		 PMID:1680789 PMID:2030155 PMID:2239966 PMID:2412200 PMID:2888754 More... RGD:1600890 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
hemoglobin D disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: Hemoglobin D disease ClinVar PMID:750553 PMID:1177278 PMID:1244906 PMID:2079437 PMID:2307460 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
hemoglobin E disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Hemoglobin E disease ClinVar PMID:1960615 PMID:3031297 PMID:4351905 PMID:5658717 PMID:5863839 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
hemoglobin H disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL | ClinVar Annotator: match by term: Hemoglobin H disease | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar		 PMID:1634361 PMID:1686260 PMID:1787098 PMID:2298455 PMID:2468982 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,828,377...15,829,141 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL | ClinVar Annotator: match by term: Hemoglobin H disease | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar		 PMID:13856 PMID:1281602 PMID:1581238 PMID:1634361 PMID:1686260 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,816,096...15,817,167 		JBrowse link
Hemoglobin M Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) ClinVar PMID:1163074 PMID:4086306 PMID:4301455 PMID:4413625 PMID:4841979 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
Hemoglobin SC Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
hemoglobinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN ADANA | ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA | ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO | ClinVar Annotator: match by term: HEMOGLOBIN HOPKINS 2 | ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS) | ClinVar Annotator: match by term: HEMOGLOBIN OLIVIERE ClinVar PMID:646867 PMID:740406 PMID:943846 PMID:4503918 PMID:4503919 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,828,377...15,829,141 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Abnormal hemoglobin | ClinVar Annotator: match by term: HEMOGLOBIN AGRINIO | ClinVar Annotator: match by term: HEMOGLOBIN CLINICO-MADRID | ClinVar Annotator: match by term: HEMOGLOBIN ICARIA | ClinVar Annotator: match by term: HEMOGLOBIN MONTGOMERY | ClinVar Annotator: match by term: HEMOGLOBIN SALLANCHES | ClinVar Annotator: match by term: HEMOGLOBIN SEAL ROCK | ClinVar Annotator: match by term: HEMOGLOBIN SINAI | ClinVar Annotator: match by term: HEMOGLOBIN SUN PRAIRIE | ClinVar Annotator: match by term: Hemoglobin Val de Marne ClinVar PMID:486536 PMID:620088 PMID:1115799 PMID:1517104 PMID:2079430 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,816,096...15,817,167 		JBrowse link
G Hbb hemoglobin subunit beta severity ISO ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN BORAS | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8114 PMID:14597 PMID:20942 PMID:81926 PMID:88735 More... RGD:10449038 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Hemoglobinopathy ClinVar PMID:7510147 PMID:15315794 PMID:23491071 NCBI chr 1:167,636,064...167,643,577 JBrowse link
hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IDA RGD PMID:11952820 RGD:704364 NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:156,569,860...156,619,868 		JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:3136561 RGD:11100010 NCBI chr 3:30,560,172...30,604,758 JBrowse link
G Ak1 adenylate kinase 1 ISO RGD PMID:10233365 RGD:1300279 NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:36,310,197...36,320,757 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 IEP mRNA:increased expression:liver (rat) RGD PMID:17082564 RGD:1599038 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:22,890,689...22,914,043 		JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 NCBI chr16:75,578,824...75,757,464
Ensembl chr16:75,578,824...75,757,464 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25411909 NCBI chr12:15,824,431...15,858,266
Ensembl chr12:15,825,124...15,858,281 		JBrowse link
G Epb41 erythrocyte membrane protein band 4.1 ISO RGD PMID:9927493 RGD:11252099 NCBI chr 5:149,394,080...149,548,178
Ensembl chr 5:149,394,096...149,543,540 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:10733367 PMID:16629641 PMID:20446436 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:15982355 RGD:11040945 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia 		CTD
ClinVar		 PMID:2502894 PMID:4794122 PMID:8562390 PMID:12064901 PMID:25741868 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO DNA:missense mutation:cds: 473C>T (p.158L)(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:10515893 PMID:10733484 RGD:11049537 NCBI chr 8:87,510,251...87,548,896
Ensembl chr 8:87,510,463...87,548,893 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO DNA:polymorphism:cds:p.G368R(human)
ClinVar Annotator: match by term: Hemolytic anemia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8822954 PMID:32581362 PMID:22930244 RGD:11051847 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:95,965,396...95,993,261 		JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:13931269 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN HYOGO | ClinVar Annotator: match by term: HEMOGLOBIN LUFKIN | ClinVar Annotator: match by term: HEMOGLOBIN MANHATTAN | ClinVar Annotator: match by term: HEMOGLOBIN MIZUHO | ClinVar Annotator: match by term: HEMOGLOBIN NIJKERK | ClinVar Annotator: match by term: HEMOGLOBIN OLMSTED | ClinVar Annotator: match by term: HEMOGLOBIN PERTH | ClinVar Annotator: match by term: HEMOGLOBIN SABINE | ClinVar Annotator: match by term: HEMOGLOBIN VOLGA | ClinVar Annotator: match by term: HEMOGLOBIN ZURICH | ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:24022 PMID:42311 PMID:439565 PMID:893142 PMID:952960 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9884342 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Hp haptoglobin ISO associated with Malaria RGD PMID:16637741 RGD:11041791 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Itpa inosine triphosphatase treatment ISO 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) 		CTD
RGD		 PMID:20547162 PMID:21274861 PMID:23933495 RGD:10766472, RGD:10766479 NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:138,338,349...138,350,329 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO RGD PMID:16740138 RGD:1599123 NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:75,336,687...75,352,959 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 NCBI chr19:67,453,120...67,515,347
Ensembl chr19:67,453,122...67,515,037 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:9827908 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 2:176,840,779...176,849,637
Ensembl chr 2:176,840,764...176,849,644 		JBrowse link
G Rhag Rh-associated glycoprotein ISO Rh(null) syndrome, OMIM:180297 RGD PMID:10467273 RGD:1599622 NCBI chr 9:27,566,349...27,594,390
Ensembl chr 9:27,566,356...27,594,390 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia 		CTD
ClinVar		 PMID:893429 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 More... NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:11304553 RGD:11035277 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:8844207 PMID:10192450 PMID:25741868 PMID:27667160 PMID:28492532 More... NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia 		CTD
ClinVar		 PMID:9005995 PMID:25741868 NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2876430 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413 		JBrowse link
hemolytic disease of the fetus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 5:138,074,155...138,088,340
Ensembl chr 5:138,065,824...138,087,015 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Kel Kell metallo-endopeptidase (Kell blood group) ISO ClinVar Annotator: match by term: KELL K/k BLOOD GROUP POLYMORPHISM ClinVar PMID:7849312 PMID:8652402 PMID:25741868 NCBI chr 4:71,534,882...71,552,297
Ensembl chr 4:71,534,882...71,552,306 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM ClinVar NCBI chr18:73,840,568...73,883,925
Ensembl chr18:73,840,569...73,870,489 		JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 9:22,897,099...22,911,640
Ensembl chr 9:22,902,471...22,914,620 		JBrowse link
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 NCBI chr  X:122,243,736...122,248,217
Ensembl chr  X:122,234,454...122,248,422 		JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd46 CD46 molecule susceptibility ISO DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human) 		RGD PMID:14615110 PMID:16189652 PMID:14566051 RGD:11352767, RGD:11531138, RGD:11352770 NCBI chr13:109,104,122...109,134,903 JBrowse link
G Cfh complement factor H ISO
ISS 		DNA:mutations, polymorphisms:promoter, exon:multiple
ClinVar Annotator: match by term: Hereditary hemolytic uremic syndrome 		ClinVar
MouseDO
RGD		 PMID:30595568 PMID:14583443 RGD:11041164 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr10:74,348,931...74,374,509
Ensembl chr10:74,350,246...74,374,478 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G F2 coagulation factor II, thrombin ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:110,852,190...110,855,598 		JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134, RGD:6909171 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:52,205,314...52,220,260 		JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:24,859,502...24,901,747 		JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chr 4:150,275,389...150,310,846
Ensembl chr 4:150,275,501...150,313,013 		JBrowse link
hereditary elliptocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41 erythrocyte membrane protein band 4.1 ISO
ISS 		ClinVar Annotator: match by term: Hereditary elliptocytosis
OMIM:130600 | OMIM:611804
associated with Myelodysplastic-Myeloproliferative Diseases 		ClinVar
MouseDO
RGD		 PMID:17994571 RGD:11252097 NCBI chr 5:149,394,080...149,548,178
Ensembl chr 5:149,394,096...149,543,540 		JBrowse link
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Elliptocytosis ClinVar PMID:25741868 NCBI chr13:88,813,861...88,814,802
Ensembl chr13:88,813,861...88,814,802 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
ClinVar Annotator: match by term: Elliptocytosis | ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary 		CTD
ClinVar
RGD		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... RGD:13208947 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:insertion:intron:
ClinVar Annotator: match by term: Elliptocytosis 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:11154235 RGD:11059523 NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Elliptocytosis 		CTD
ClinVar		 PMID:1975598 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 More... NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		JBrowse link
hereditary folate malabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: SLC46A1-related condition ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 More... NCBI chr10:63,867,503...63,890,872
Ensembl chr10:63,867,503...63,890,872 		JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: SLC46A1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr10:63,859,551...63,865,987
Ensembl chr10:63,859,504...63,866,869 		JBrowse link
hereditary pyropoikilocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 NCBI chr13:88,813,861...88,814,802
Ensembl chr13:88,813,861...88,814,802 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse) 		ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:8640229 More... RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr16:75,578,824...75,757,464
Ensembl chr16:75,578,824...75,757,464 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:31,012,091...31,035,297 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:54,460,636...54,483,049
Ensembl chr19:54,468,690...54,514,496 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar
RGD		 PMID:28492532 PMID:1558976 RGD:1598910 NCBI chr 3:128,433,460...128,451,683
Ensembl chr 3:128,433,464...128,451,683 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:95,965,396...95,993,261 		JBrowse link
G Klf1 KLF transcription factor 1 ISO
ISS 		DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO
RGD		 PMID:20691777 RGD:10769342 NCBI chr19:40,155,476...40,158,651
Ensembl chr19:40,155,480...40,158,607 		JBrowse link
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:25741868 NCBI chr13:88,813,861...88,814,802
Ensembl chr13:88,813,861...88,814,802 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human) 		ClinVar
CTD
RGD		 PMID:1378323 PMID:25741868 PMID:28492532 PMID:36231035 PMID:8282779 More... RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds: 		ClinVar
RGD		 PMID:2794061 PMID:3597773 PMID:8857939 PMID:8941647 PMID:15384986 More... RGD:11059521, RGD:11059522 NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 More... RGD:11059526 NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:80,311,269...80,321,678
Ensembl chr11:80,311,214...80,327,828 		JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 4:120,001,977...120,101,090
Ensembl chr 4:120,002,054...120,101,091 		JBrowse link
G Ank1 ankyrin 1 ISO
ISS 		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
OMIM:182900
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More... NCBI chr16:75,578,824...75,757,464
Ensembl chr16:75,578,824...75,757,464 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:128,433,460...128,451,683
Ensembl chr 3:128,433,464...128,451,683 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 ClinVar PMID:25741868 NCBI chr10:52,355,739...52,382,235
Ensembl chr10:52,355,739...52,382,235 		JBrowse link
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition ClinVar PMID:25741868 NCBI chr 6:100,998,965...101,042,120
Ensembl chr 6:100,994,417...101,042,118 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition | ClinVar Annotator: match by term: Spherocytosis type 2 OMIM
ClinVar		 PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 More... NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 ClinVar PMID:25741868 NCBI chr13:88,813,861...88,814,802
Ensembl chr13:88,813,861...88,814,802 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO
ISS 		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:270970
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8844207 More... NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4
OMIM:612653 		CTD
ClinVar
MouseDO		 PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 5
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr 3:128,433,460...128,451,683
Ensembl chr 3:128,433,464...128,451,683 		JBrowse link
Hexokinase Deficiency Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Hexokinase deficiency hemolytic anemia ClinVar PMID:6848140 PMID:7655856 PMID:11783948 PMID:12211198 PMID:12393545 More... NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
Homocystinuria-megaloblastic anemia cblD type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE ClinVar
OMIM		 PMID:15292234 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chr 3:55,117,832...55,135,735
Ensembl chr 3:55,117,833...55,135,851 		JBrowse link
homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE 		CTD
OMIM
ClinVar		 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:36,695,460...36,727,807 		JBrowse link
G Per3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE ClinVar PMID:25741868 NCBI chr 5:166,740,914...166,778,243
Ensembl chr 5:166,743,050...166,777,999 		JBrowse link
homocystinuria-megaloblastic anemia cblG type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO 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 ClinVar PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:25741868 NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:36,695,460...36,727,807 		JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:68,781,168...68,784,194
Ensembl chr19:68,781,168...68,786,178 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:11,121,504...11,142,261
Ensembl chr10:11,121,553...11,142,491 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G C13h1orf105 similar to human chromosome 1 open reading frame 105 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr13:76,846,595...76,889,660
Ensembl chr13:76,846,597...76,889,595 		JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:61,849,821...62,093,876
Ensembl chr18:61,853,149...62,094,075 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:78,862,286...78,877,353 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:173,988,443...173,994,320
Ensembl chr 3:173,988,460...173,995,539 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:33027564 PMID:37236975 NCBI chr 5:126,573,366...126,599,940
Ensembl chr 5:126,573,338...126,599,936 		JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:95,853,735...96,070,327
Ensembl chr13:95,854,534...96,070,330 		JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr10:50,996,796...51,363,977
Ensembl chr10:50,996,796...51,363,963 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:34645488 NCBI chr 1:212,423,444...212,444,357
Ensembl chr 1:212,423,447...212,443,598 		JBrowse link
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr12:24,963,174...24,988,473
Ensembl chr12:24,963,174...24,988,388 		JBrowse link
G Fen1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:216,270,016...216,274,873
Ensembl chr 1:216,269,163...216,275,016 		JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:34,414,834...34,455,878
Ensembl chr10:34,414,733...34,456,645 		JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:11499682 PMID:12114478 PMID:12485195 PMID:25741868 NCBI chr19:66,094,718...66,097,420
Ensembl chr19:66,094,700...66,153,977 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 More... NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:17,580,380...17,595,894 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 7:71,939,916...71,971,685
Ensembl chr 7:71,939,973...71,971,680 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 6:27,507,878...27,724,033
Ensembl chr 6:27,507,627...27,724,031 		JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More... NCBI chr12:32,337,281...32,350,838
Ensembl chr12:32,334,075...32,363,024 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,816,096...15,817,167 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590 		JBrowse link
G Kif19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:100,298,912...100,325,591
Ensembl chr10:100,299,275...100,325,767 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:205,729,409...205,744,759 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33027564 More... NCBI chr11:96,991,956...97,008,127
Ensembl chr11:96,991,590...97,007,851 		JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 3:177,358,639...177,360,599
Ensembl chr 3:177,340,870...177,364,651 		JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:198,692,857...198,706,953
Ensembl chr 2:198,693,101...198,705,738 		JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:63,152,303...63,253,543
Ensembl chr10:63,152,103...63,253,543 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28492532 PMID:31130284 NCBI chr 9:118,362,547...118,485,954
Ensembl chr 9:118,362,621...118,485,952 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:216,279,057...216,311,155
Ensembl chr 1:216,279,057...216,311,178 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 More... NCBI chr 3:57,022,822...57,220,752
Ensembl chr 3:57,022,822...57,220,709 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:3,902,120...3,906,383
Ensembl chr20:3,902,120...3,906,383 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 More... NCBI chr19:67,453,120...67,515,347
Ensembl chr19:67,453,122...67,515,037 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr13:76,876,894...76,879,420
Ensembl chr13:76,872,922...76,880,224 		JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 1:216,966,104...216,977,549
Ensembl chr 1:216,966,462...216,980,506 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:9326927 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 3:97,470,891...97,480,196
Ensembl chr 3:97,470,881...97,480,196 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 More... NCBI chr 2:176,478,616...176,493,269
Ensembl chr 2:176,478,596...176,494,684 		JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:45,407,823...45,502,773
Ensembl chr 6:45,407,965...45,502,771 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 3:119,886,129...120,433,465
Ensembl chr 3:119,885,878...120,433,677 		JBrowse link
G Serpina11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:128,668,030...128,677,476
Ensembl chr 6:128,668,034...128,677,454 		JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,042,255...17,045,769 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More... NCBI chr 1:262,964,345...263,052,898
Ensembl chr 1:262,965,011...263,052,634 		JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329 PMID:21394828 PMID:25741868 PMID:28492532 PMID:31680349 More... NCBI chr 6:53,751,415...53,792,300
Ensembl chr 6:53,751,415...53,792,294 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:65,464,948...65,510,846
Ensembl chr10:65,464,969...65,510,846 		JBrowse link
G Svopl SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:67,663,652...67,725,691
Ensembl chr 4:67,664,810...67,725,549 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28749478 NCBI chr16:76,473,026...76,507,404
Ensembl chr16:76,473,859...76,503,951 		JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:11,003,036...11,038,466
Ensembl chr10:11,003,036...11,038,466 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 5:162,113,732...162,339,121
Ensembl chr 5:162,113,732...162,339,099 		JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 8:131,887,728...131,983,866
Ensembl chr 8:131,887,753...131,983,866 		JBrowse link
hypochromic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO
IAGP 		DNA:missense mutation:cds:p.G185R (human)
DNA:deletion, missense mutation:cds:428_430delGTG, p.G212V (human) 		RGD PMID:9241278 PMID:9448300 PMID:16439678 RGD:9743973, RGD:729808, RGD:1580430 NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941 		JBrowse link
hypochromic microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:30,812,033...30,816,885
Ensembl chr19:30,797,202...30,815,029 		JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:112,647,642...112,695,400 		JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318 		JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcytic anemia with liver iron overload 		CTD
ClinVar		 PMID:15459009 PMID:16160008 PMID:16439678 PMID:25741868 PMID:28492532 More... NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941 		JBrowse link
G Steap3 STEAP3 metalloreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:33,904,710...33,950,100
Ensembl chr13:33,904,710...33,950,080 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO ClinVar Annotator: match by term: SLC11A2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35457224 NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Steap3 STEAP3 metalloreductase ISO ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 | ClinVar Annotator: match by term: STEAP3-related condition OMIM
ClinVar		 PMID:22031863 PMID:25741868 PMID:28492532 NCBI chr13:33,904,710...33,950,100
Ensembl chr13:33,904,710...33,950,080 		JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 6:136,132,567...136,140,008
Ensembl chr 6:136,132,567...136,140,008 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:82,473,097...82,818,564
Ensembl chr17:82,473,129...82,818,564 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:136,154,905...136,241,259
Ensembl chr 6:136,154,905...136,237,570 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:7573042 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 More... NCBI chr17:81,293,619...81,501,694
Ensembl chr17:81,293,619...81,501,694 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:81,992,284...82,014,676
Ensembl chr17:81,992,292...82,014,592 		JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:82,262,303...82,348,974
Ensembl chr17:82,262,351...82,349,229 		JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:81,649,866...81,847,970
Ensembl chr17:81,653,687...81,792,732 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:82,028,779...82,074,717
Ensembl chr17:82,028,703...82,075,013 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:136,025,097...136,128,363
Ensembl chr 6:136,027,157...136,128,363 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:81,510,740...81,554,036
Ensembl chr17:81,521,200...81,577,639 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:81,568,272...81,585,746 		JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO 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 ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 6:136,132,567...136,140,008
Ensembl chr 6:136,132,567...136,140,008 		JBrowse link
G Cblif cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine: 		RGD PMID:15738392 PMID:10435666 RGD:11049583, RGD:11049586 NCBI chr 1:218,030,756...218,045,004
Ensembl chr 1:218,030,731...218,045,117 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:136,154,905...136,241,259
Ensembl chr 6:136,154,905...136,237,570 		JBrowse link
G Cubn cubilin ISO DNA:missense mutation:cds:p.P1297L (human)
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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:7573042 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 More... RGD:61796 NCBI chr17:81,293,619...81,501,694
Ensembl chr17:81,293,619...81,501,694 		JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO DNA:mutation:splice site:
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type 		ClinVar
OMIM
RGD		 PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... RGD:11071839 NCBI chr 6:136,132,567...136,140,008
Ensembl chr 6:136,132,567...136,140,008 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:136,154,905...136,241,259
Ensembl chr 6:136,154,905...136,237,570 		JBrowse link
Immuno-Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Immuno-hemolytic anemia ClinVar PMID:32853638 PMID:33087723 NCBI chr10:5,389,574...5,391,265
Ensembl chr10:5,389,334...5,391,847 		JBrowse link
Immunodeficiency 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpp9 dipeptidyl peptidase 9 ISO ClinVar Annotator: match by term: Hatipoglu immunodeficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:36112693 NCBI chr 9:1,098,505...1,133,500
Ensembl chr 9:1,095,929...1,177,715 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BCL11 transcription factor A ISO 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 OMIM
ClinVar		 PMID:22542183 PMID:25418537 PMID:25741868 PMID:27453576 PMID:28492532 More... NCBI chr14:102,230,147...102,325,289
Ensembl chr14:102,231,113...102,325,623 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 1:89,980,660...90,008,357
Ensembl chr 1:89,981,743...90,008,354 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611 		JBrowse link
iron deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein IEP mRNA:decreased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971 		JBrowse link
G Atp7a ATPase copper transporting alpha severity ISO
IEP 		mRNA:increased expression:duodenum (mouse)
DNA:deletion:cds:p.A799_L800del (mouse)
mRNA:increased expression:small intestine mucosa (rat) 		RGD PMID:23776592 PMID:23776592 PMID:15637178 RGD:11252172, RGD:11252172, RGD:2315589 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G C1qa complement C1q A chain IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732 		JBrowse link
G Crp C-reactive protein IEP protein:increased expression:plasma RGD PMID:19730160 RGD:5131463 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Cst3 cystatin C IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:156,790,079...156,793,937 		JBrowse link
G Fn1 fibronectin 1 IEP mRNA:increased expression:hippocampus: RGD PMID:18723004 RGD:2301196 NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP
ISO 		associated with Renal Insufficiency, Chronic RGD PMID:7861256 PMID:24691014 RGD:11352760, RGD:11352819 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:plasma: RGD PMID:25097522 RGD:11059505 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO
IEP 		mRNA:decreased expression:liver RGD PMID:17218383 PMID:22457245 RGD:11041606, RGD:11041634 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Hfe homeostatic iron regulator ISO associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) RGD PMID:29194702 RGD:14701052 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Hp haptoglobin ISO protein:decreased expression:serum RGD PMID:647925 RGD:11041798 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Il6 interleukin 6 treatment IEP associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) RGD PMID:18808386 PMID:31524964 RGD:11062011, RGD:598092517 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:duodenal mucosa (rat)
protein:altered activity:intestinal villus of duodenum (rat) 		RGD PMID:18549630 PMID:10095770 RGD:12904038, RGD:12910699 NCBI chr 8:64,124,152...64,207,702
Ensembl chr 8:64,154,945...64,205,520 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:SNP: :807C>T (human) RGD PMID:12225391 RGD:11530068 NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:48,253,412...48,354,509 		JBrowse link
G Kat5 lysine acetyltransferase 5 IEP mRNA:increased expression:hippocampus (rat) RGD PMID:18723004 RGD:2301196 NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:212,325,090...212,332,587 		JBrowse link
G Mb myoglobin IEP protein:decreased expression:skeletal muscle RGD PMID:956378 RGD:488078620 NCBI chr 7:110,640,511...110,647,742
Ensembl chr 7:110,640,512...110,647,958 		JBrowse link
G Pon1 paraoxonase 1 treatment ISO protein:decreased activity:serum (human) RGD PMID:16684543 PMID:26926576 RGD:11552586, RGD:11553834 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 IEP
ISO 		protein:increased expression:nasal cavity olfactory epithelium
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17116712 PMID:17116743 RGD:2311409 NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:decreased expression:erythrocyte, membrane (rat) RGD PMID:1317772 RGD:10450513 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17057260 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Tf transferrin susceptibility ISO DNA:missense mutation:exon:p.G277S
ClinVar Annotator: match by term: Iron deficiency anemia 		ClinVar
RGD		 PMID:11703331 PMID:12752114 PMID:16398662 PMID:25741868 PMID:28492532 More... RGD:1601513 NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:112,647,642...112,695,400 		JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:placenta: 		CTD
RGD		 PMID:16733738 PMID:17162259 PMID:17163184 PMID:15104997 PMID:17877204 More... RGD:11062096, RGD:11062105, RGD:11062104 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318 		JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18408718 PMID:22169218 NCBI chr 7:111,871,504...111,902,127
Ensembl chr 7:111,871,031...111,902,116 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:rs1800629 (human) RGD PMID:18716131 RGD:10450563 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
kernicterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20194756 PMID:28167773 NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:96,144,786...96,256,264 		JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdfic MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 4:44,938,301...45,018,157
Ensembl chr 4:44,938,480...45,018,156 		JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chr16:76,473,026...76,507,404
Ensembl chr16:76,473,859...76,503,951 		JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:89,835,071...89,932,616
Ensembl chr 3:89,835,077...89,887,350 		JBrowse link
macrocytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISS MouseDO NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Macrocytic anemia ClinVar PMID:25741868 PMID:28099038 PMID:28492532 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:118,607,312...118,667,087
Ensembl chr 9:118,606,891...118,666,957 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr 9:118,529,988...118,604,796
Ensembl chr 9:118,529,943...118,604,796 		JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:118,338,592...118,346,277
Ensembl chr 9:118,338,604...118,342,634 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:118,320,479...118,334,810
Ensembl chr 9:118,320,489...118,324,418 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:118,362,547...118,485,954
Ensembl chr 9:118,362,621...118,485,952 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:118,690,057...118,833,452 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:118,194,735...118,204,354
Ensembl chr 9:118,194,444...118,204,442 		JBrowse link
Malarial Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor 3A severity
susceptibility 		ISO DNA:polymorphism: :p.F176V (human) RGD PMID:20231419 PMID:23045477 RGD:11040771, RGD:11344971 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) severity ISO DNA:snp:promoter:g.-5699T>C (human) RGD PMID:16960783 RGD:10450507 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
G Tlr9 toll-like receptor 9 susceptibility ISO DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) RGD PMID:23045477 RGD:11344971 NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148 		JBrowse link
megaloblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein susceptibility ISO ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism ClinVar
RGD		 PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... RGD:1599101 NCBI chr 6:136,132,567...136,140,008
Ensembl chr 6:136,132,567...136,140,008 		JBrowse link
G Cdc42bpb CDC42 binding protein kinase beta ISO ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism ClinVar PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More... NCBI chr 6:136,154,905...136,241,259
Ensembl chr 6:136,154,905...136,237,570 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism ClinVar PMID:7573042 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 More... NCBI chr17:81,293,619...81,501,694
Ensembl chr17:81,293,619...81,501,694 		JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310276 PMID:21310277 NCBI chr 2:25,320,895...25,346,004 JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7430361 NCBI chr  X:8,490,405...8,594,065
Ensembl chr  X:8,490,344...8,594,375 		JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chr13:79,135,118...79,149,316
Ensembl chr13:79,135,059...79,149,315 		JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:4627864 PMID:7849710 RGD:1580450 NCBI chr14:83,036,935...83,052,187
Ensembl chr14:83,036,935...83,051,552 		JBrowse link
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: DHFR-related condition | ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency
CTD Direct Evidence: marker/mechanism
DNA:mutation:c.458A>T(human) 		OMIM
ClinVar
CTD
RGD		 PMID:1060915 PMID:1099447 PMID:6700662 PMID:21310276 PMID:21310277 More... RGD:11039540 NCBI chr 2:25,320,895...25,346,004 JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr 2:25,179,400...25,320,857
Ensembl chr 2:25,179,400...25,321,102 		JBrowse link
methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO DNA:missense mutation:cds:p.S127P (human) RGD PMID:2107882 RGD:1599659 NCBI chr18:80,487,923...80,520,544
Ensembl chr18:14,453,966...14,455,094
Ensembl chr18:14,453,966...14,455,094 		JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16469290 PMID:11295830 RGD:1599771 NCBI chr 7:116,186,729...116,204,290
Ensembl chr 7:116,186,729...116,204,306 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12030840 NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:66,971,261...66,978,149 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:20562208 RGD:10755319 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3026948 NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,828,377...15,829,141 		JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15929117 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
methemoglobinemia and ambiguous genitalia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: CYB5A-related condition | ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868 More... NCBI chr18:80,487,923...80,520,544
Ensembl chr18:14,453,966...14,455,094
Ensembl chr18:14,453,966...14,455,094 		JBrowse link
Methemoglobinemia, Alpha-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Methemoglobinemia, alpha type OMIM
ClinVar		 PMID:3026948 PMID:3957697 PMID:5896605 PMID:5964191 PMID:6998928 More... NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,828,377...15,829,141 		JBrowse link
Methemoglobinemia, Beta-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE | ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type OMIM
ClinVar		 PMID:14973 PMID:81926 PMID:88735 PMID:604314 PMID:750553 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Microcytic anemia ClinVar PMID:34140661 NCBI chr 1:165,440,705...165,563,514
Ensembl chr 1:165,440,861...165,583,815 		JBrowse link
G Dnm2 dynamin 2 ISS OMIM:206200 MouseDO NCBI chr 8:28,254,344...28,336,297
Ensembl chr 8:28,254,529...28,336,295 		JBrowse link
G Tmprss6 transmembrane serine protease 6 ISO 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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18408718 PMID:18596229 More... NCBI chr 7:111,871,504...111,902,127
Ensembl chr 7:111,871,031...111,902,116 		JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:111,262,792...111,368,099
Ensembl chr  X:111,262,792...111,368,099 		JBrowse link
G Gng5-ps4 G protein subunit gamma 5, pseudogene 4 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr11:58,096,275...58,096,795
Ensembl chr11:58,096,362...58,096,565 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:111,470,972...111,517,356
Ensembl chr  X:111,509,060...111,517,348 		JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:111,084,830...111,245,419
Ensembl chr  X:111,085,712...111,245,417 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slf2 SMC5-SMC6 complex localization factor 2 ISO ClinVar Annotator: match by term: Atelis syndrome 1 OMIM
ClinVar		 PMID:36333305 NCBI chr 1:253,731,979...253,794,577
Ensembl chr 1:253,732,025...253,794,577 		JBrowse link
Myelocerebellar Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome ClinVar NCBI chr 4:32,119,318...32,139,008
Ensembl chr 4:32,117,137...32,171,759 		JBrowse link
G Samd9l sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome | ClinVar Annotator: match by term: Myelocerebellar disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:283689 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 More... NCBI chr 4:32,316,748...32,331,112
Ensembl chr 4:32,222,623...32,331,067 		JBrowse link
MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities ClinVar
OMIM		 PMID:29784638 NCBI chr 4:126,239,354...126,269,702
Ensembl chr 4:126,239,902...126,266,904 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:98,084,049...98,135,663
Ensembl chr11:98,085,397...98,137,420 		JBrowse link
G Pus1 pseudouridine synthase 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 		CTD
ClinVar
MouseDO		 PMID:17056637 PMID:19731322 PMID:25058219 PMID:25741868 PMID:26556812 More... NCBI chr12:51,539,659...51,548,975
Ensembl chr12:51,540,212...51,548,973 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:98,136,530...98,142,320
Ensembl chr11:98,115,386...98,142,668 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition OMIM
ClinVar		 PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 More... NCBI chr12:51,539,659...51,548,975
Ensembl chr12:51,540,212...51,548,973 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:98,084,049...98,135,663
Ensembl chr11:98,085,397...98,137,420 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 | ClinVar Annotator: match by term: YARS2-related condition OMIM
ClinVar		 PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 More... NCBI chr11:98,136,530...98,142,320
Ensembl chr11:98,115,386...98,142,668 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584 		JBrowse link
NADH Cytochrome B5 Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5r3 cytochrome b5 reductase 3 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 methemoglobin reductase deficiency | ClinVar Annotator: match by term: NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,3'UTR: 		OMIM
ClinVar
CTD
RGD		 PMID:1159544 PMID:1400360 PMID:1707593 PMID:1898726 PMID:2107882 More... RGD:11040533 NCBI chr 7:116,186,729...116,204,290
Ensembl chr 7:116,186,729...116,204,306 		JBrowse link
neonatal anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin, beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism CTD PMID:9005995 NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		JBrowse link
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ireb2 iron responsive element binding protein 2 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 NCBI chr 8:64,124,152...64,207,702
Ensembl chr 8:64,154,945...64,205,520 		JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:28973083 PMID:30368668 More... NCBI chr11:96,991,956...97,008,127
Ensembl chr11:96,991,590...97,007,851 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:20301303 PMID:21387466 More... NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350 		JBrowse link
Ovalocytosis, Malaysian-Melanesian-Filipino Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:deletion, missense mutation:cds:c.1198_1224del, p.K56E (human)
ClinVar Annotator: match by term: Elliptocytosis 4 | ClinVar Annotator: match by term: Southeast Asian ovalocytosis
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... RGD:10450479 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
overhydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rh-associated glycoprotein ISO ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis | ClinVar Annotator: match by term: Potassium sodium disorder of erythrocyte | ClinVar Annotator: match by term: RHAG-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19831342 PMID:21859730 PMID:23967154 PMID:25741868 PMID:28492532 NCBI chr 9:27,566,349...27,594,390
Ensembl chr 9:27,566,356...27,594,390 		JBrowse link
pancytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9051142 PMID:17505274 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860 		JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310276 NCBI chr 2:25,320,895...25,346,004 JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:12750163 RGD:11041567 NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:13,544,389...13,624,729 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:9051142 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Ercc6l2 ERCC excision repair 6 like 2 ISO ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:25741868 PMID:29987015 NCBI chr17:1,055,881...1,323,207
Ensembl chr17:1,222,139...1,316,056 		JBrowse link
G Fancc FA complementation group C ISO Low dose of mitomycin C 0.3mg/kg RGD PMID:9531583 PMID:10627482 RGD:11045793, RGD:11045794 NCBI chr17:1,686,374...1,818,672
Ensembl chr17:1,687,017...1,835,096 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038 		JBrowse link
G Mocos molybdenum cofactor sulfurase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29935280 NCBI chr18:16,206,402...16,251,928
Ensembl chr18:16,206,402...16,251,928 		JBrowse link
G Nudt15 nudix hydrolase 15 ISS MouseDO NCBI chr15:55,117,312...55,123,983 JBrowse link
G Rpl27a ribosomal protein L27A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21674502 NCBI chr 1:172,971,957...172,977,591 JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:45,329,044...45,564,925 		JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21346251 NCBI chr10:63,859,551...63,865,987
Ensembl chr10:63,859,504...63,866,869 		JBrowse link
G Tcn2 transcobalamin 2 ISO ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:7980584 PMID:16199547 PMID:20352340 PMID:28492532 NCBI chr14:83,036,935...83,052,187
Ensembl chr14:83,036,935...83,051,552 		JBrowse link
paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased processing:erythrocyte RGD PMID:6915939 RGD:11040769 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G 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 More... NCBI chr 3:38,668,174...38,759,468
Ensembl chr 3:38,668,174...38,759,468 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human)
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More... RGD:11087560 NCBI chr  X:33,672,832...33,687,747
Ensembl chr  X:33,674,923...33,687,636 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO CTD Direct Evidence: marker/mechanism CTD PMID:25417052 NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr  X:33,672,832...33,687,747
Ensembl chr  X:33,674,923...33,687,636 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 ClinVar PMID:25741868 NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268 		JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268 		JBrowse link
pernicious anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO RGD PMID:4434116 PMID:167441 RGD:11049584, RGD:11049587 NCBI chr 1:218,030,756...218,045,004
Ensembl chr 1:218,030,731...218,045,117 		JBrowse link
pure red-cell aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide IEP mRNA:increased expression:liver RGD PMID:25580431 RGD:11041717 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human) RGD PMID:18689790 RGD:11041748 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human) RGD PMID:18689790 RGD:11041748 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
pyridoxine deficiency anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase IDA RGD PMID:11575573 RGD:1598897 NCBI chr 3:164,029,338...164,044,562
Ensembl chr 3:164,029,338...164,044,587 		JBrowse link
Refractory Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat-containing 5 ISO RGD PMID:18426652 RGD:11038658 NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,572,080...103,582,155 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum: RGD PMID:10214861 RGD:11049479 NCBI chr 1:104,751,518...104,756,925
Ensembl chr 1:104,749,983...104,757,038 		JBrowse link
G 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 PMID:17654685 RGD:10755539, RGD:10755539 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208 		JBrowse link
G Tcn2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chr14:83,036,935...83,052,187
Ensembl chr14:83,036,935...83,051,552 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:18426652 RGD:11038658 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10870480 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Ybx1 Y box binding protein 1 ISO RGD PMID:14604279 RGD:1580637 NCBI chr 5:138,167,444...138,188,155
Ensembl chr 5:138,167,444...138,184,188 		JBrowse link
Refractory Anemia with Excess of Blasts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat-containing 5 ISO RGD PMID:18426652 RGD:11038658 NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,572,080...103,582,155 		JBrowse link
G C3 complement C3 disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Cfb complement factor B disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:18426652 RGD:11038658 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 disease_progression ISO RGD PMID:25200248 RGD:11038682 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:224,662,654...224,746,186 		JBrowse link
Rh deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rh-associated glycoprotein ISO ClinVar Annotator: match by term: Rh-null, regulator type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9442063 PMID:10467273 PMID:25741868 PMID:28492532 PMID:32036089 More... NCBI chr 9:27,566,349...27,594,390
Ensembl chr 9:27,566,356...27,594,390 		JBrowse link
G Rhd Rh blood group, D antigen ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 5:152,371,160...152,405,396
Ensembl chr 5:152,371,200...152,405,395 		JBrowse link
G Rsrp1 arginine and serine rich protein 1 ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 5:152,431,448...152,435,202
Ensembl chr 5:152,431,478...152,435,126 		JBrowse link
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:80,977,562...80,988,041 		JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:36,563,704...36,611,814 		JBrowse link
G Bcl11a BCL11 transcription factor A severity
treatment 		ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698 PMID:22360576 PMID:21998251 RGD:11099970, RGD:11100007, RGD:11099996 NCBI chr14:102,230,147...102,325,289
Ensembl chr14:102,231,113...102,325,623 		JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:7554454 PMID:3896597 RGD:11040773, RGD:11040777 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:31,012,091...31,035,297 		JBrowse link
G Cd36 CD36 molecule treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255 PMID:20015873 RGD:6893506, RGD:11041114 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		JBrowse link
G Cfb complement factor B ISO protein:decreased activity RGD PMID:10440069 PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:247,879,078...247,916,798 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:54,460,636...54,483,049
Ensembl chr19:54,468,690...54,514,496 		JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:26286849 PMID:8191393 RGD:11565074, RGD:11565080 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246 		JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:212,511,680...212,523,369 		JBrowse link
G Gch1 GTP cyclohydrolase 1 sexual_dimorphism ISO DNA:SNP, haplotype:rs8007267 (human) RGD PMID:24136375 RGD:329961567 NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO protein:decreased expression:penis RGD PMID:19951064 PMID:20846340 PMID:22620981 RGD:11352756, RGD:11352775, RGD:11352757 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:23049400 RGD:10450863 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:429843 More... RGD:1600892 NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Hbe1 hemoglobin subunit epsilon 1 treatment ISO DNA:SNP: :rs7130110 (human) RGD PMID:12124399 PMID:23409025 RGD:11353858, RGD:11353860 NCBI chr 1:167,694,820...167,872,091
Ensembl chr 1:167,694,825...167,696,280 		JBrowse link
G Hk1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:53,570,364...53,577,802 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO
IMP 		RGD PMID:11238038 PMID:20306336 RGD:10755563, RGD:10755565 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:38,375,132...38,378,003 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:55,176,560...55,200,791 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association 		ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human) 		RGD PMID:22924497 PMID:20113291 PMID:22924497 RGD:10449403, RGD:10449420, RGD:10449403 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090 		JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Nppb natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20408845 PMID:21689089 RGD:5685653 NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:163,699,839...163,701,310 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:92,090,235...92,151,839 		JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:110,547,153...110,557,747 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G Selp selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chr13:79,009,379...79,044,994
Ensembl chr13:79,009,475...79,044,987 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:603903 MouseDO NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:14965870 PMID:8140855 RGD:10449460 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:80,311,269...80,321,678
Ensembl chr11:80,311,214...80,327,828 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801 		JBrowse link
sickle cell disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Sickle cell disease OMIM
ClinVar		 PMID:14973 PMID:81926 PMID:88735 PMID:429843 PMID:721614 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
Sickle Cell Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serpin family F member 1 ISO protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
Sickle Cell Trait term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) ClinVar PMID:284392 PMID:974261 PMID:1891024 PMID:5097135 PMID:5481775 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Hp haptoglobin ISO RGD PMID:21595649 PMID:19023114 RGD:5147416, RGD:5147440 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16892088 PMID:18637800 PMID:18398482 RGD:11038732 NCBI chr  X:73,361,296...73,502,464
Ensembl chr  X:73,361,310...73,502,547 		JBrowse link
G Alad aminolevulinate dehydratase ISO protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:80,977,562...80,988,041 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 susceptibility ISO DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16716198 PMID:16892088 PMID:7949148 RGD:1599037 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:22,890,689...22,914,043 		JBrowse link
G Calr calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chr19:40,213,367...40,218,262
Ensembl chr19:40,213,239...40,219,236 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chr16:18,838,436...18,842,022
Ensembl chr16:18,838,436...18,842,022 		JBrowse link
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chr 6:129,752,902...129,763,278
Ensembl chr 6:129,752,840...129,763,278 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,804,774...26,828,398 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia ClinVar PMID:9389715 PMID:32906214 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,309...6,853 		JBrowse link
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:51,539,659...51,548,975
Ensembl chr12:51,540,212...51,548,973 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chr 8:128,713,180...128,725,968
Ensembl chr 8:128,713,131...128,725,966 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318 		JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human) 		OMIM
ClinVar
CTD
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More... RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:22,890,689...22,914,043 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory ClinVar NCBI chr  X:22,914,943...22,937,713
Ensembl chr  X:22,914,944...22,936,011 		JBrowse link
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 chr 8:128,713,180...128,725,968
Ensembl chr 8:128,713,131...128,725,966 		JBrowse link
sideroblastic anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hscb HscB mitochondrial iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 5 OMIM
ClinVar		 PMID:25741868 PMID:32634119 NCBI chr12:51,481,318...51,491,689
Ensembl chr12:51,481,326...51,501,507 		JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 4:141,236,937...141,259,700
Ensembl chr 4:141,236,979...141,259,698 		JBrowse link
Stomatocytosis II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:25741868 NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:89,086,814...89,102,275 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr19:67,453,120...67,515,347
Ensembl chr19:67,453,122...67,515,037 		JBrowse link
thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 treatment ISO DNA:deletion: : (human) RGD PMID:26691424 RGD:12798507 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN TUNIS-BIZERTE | ClinVar Annotator: match by term: Thalassemia ClinVar PMID:7786798 PMID:25741868 NCBI chr10:15,828,291...15,829,138
Ensembl chr10:15,828,377...15,829,141 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Thalassemia ClinVar PMID:826080 PMID:3401329 PMID:4041267 PMID:5453914 PMID:5643522 More... NCBI chr10:15,816,099...15,816,943
Ensembl chr10:15,816,096...15,817,167 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN J (BALTIMORE) | ClinVar Annotator: match by term: Hemoglobin Lepore trait | ClinVar Annotator: match by term: Thalassemia ClinVar PMID:511585 PMID:700140 PMID:701081 PMID:857849 PMID:1347969 More... NCBI chr 1:167,662,310...167,663,721
Ensembl chr 1:167,630,245...167,663,873 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Hemoglobin Lepore trait | ClinVar Annotator: match by term: Thalassemia ClinVar PMID:701081 PMID:1347969 PMID:1398286 PMID:1693293 PMID:1742490 More... NCBI chr 1:167,636,064...167,643,577 JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A ISS MouseDO NCBI chr 1:105,136,521...105,139,596
Ensembl chr 1:105,136,525...105,139,774 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a2 solute carrier family 19 member 2 ISO
ISS 		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:249270
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chr13:79,135,118...79,149,316
Ensembl chr13:79,135,059...79,149,315 		JBrowse link
Thrombocytopenia, Anemia, and Myelofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr20:3,761,832...3,765,679
Ensembl chr20:3,762,182...3,765,679 		JBrowse link
triosephosphate isomerase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpi1 triosephosphate isomerase 1 ISO
ISS 		OMIM:615512
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Triosephosphate isomerase deficiency 		OMIM
MouseDO
CTD
ClinVar		 PMID:2876430 PMID:7485100 PMID:7628118 PMID:8244340 PMID:8503454 More... NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413 		JBrowse link
twin-to-twin transfusion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO RGD PMID:23208016 RGD:11035270 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 severity ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:24840051 RGD:10450860 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:22833547 RGD:242905184 NCBI chr20:9,471,136...9,564,286
Ensembl chr20:9,471,167...9,564,286 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:23643401 RGD:11100023 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
X-linked congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr  X:143,600,763...143,788,407
Ensembl chr  X:143,600,767...143,788,432 		JBrowse link
X-linked dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human)
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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human) 		ClinVar
CTD
OMIM
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More... RGD:1598600, RGD:11038735, RGD:11038734 NCBI chr  X:73,361,296...73,502,464
Ensembl chr  X:73,361,310...73,502,547 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar PMID:25741868 NCBI chr  X:22,890,650...22,914,046
Ensembl chr  X:22,890,689...22,914,043 		JBrowse link
X-linked thrombocytopenia with beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More... NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human)
DNA:missense mutation: :p.D218G, 653A>G (human)
DNA:missense mutation: :p.M205V, 613G>A (human) 		OMIM
ClinVar
RGD		 PMID:871527 PMID:3164080 PMID:9536098 PMID:10700180 PMID:11418466 More... RGD:10450749, RGD:10450743, RGD:10450740 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
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 chr  X:34,179,279...34,201,989
Ensembl chr  X:34,179,311...34,201,986 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      hematopoietic system disease 3840
        anemia 865
          Congenital Dyserythropoiesis with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin 0
          Drug-induced Anemia 3
          MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND 1
          Malarial Anemia 3
          Mosaic Variegated Aneuploidy Syndrome 5 1
          Refractory Anemia + 32
          Thrombocytopenia, Anemia, and Myelofibrosis 1
          X-Linked Anemia without Thrombocytopenia 0
          X-linked dyserythropoietic anemia 1
          autosomal dominant tubulointerstitial kidney disease 4 1
          folic acid deficiency anemia + 4
          hypochromic anemia + 30
          macrocytic anemia + 31
          microcytic anemia + 259
          neonatal anemia + 2
          normocytic anemia + 756
          pancytopenia + 23
          protein-deficiency anemia 0
          pyridoxine deficiency anemia 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      Hemic and Lymphatic Diseases 4334
        hematopoietic system disease 3840
          anemia 865
            Congenital Dyserythropoiesis with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin 0
            Drug-induced Anemia 3
            MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND 1
            Malarial Anemia 3
            Mosaic Variegated Aneuploidy Syndrome 5 1
            Refractory Anemia + 32
            Thrombocytopenia, Anemia, and Myelofibrosis 1
            X-Linked Anemia without Thrombocytopenia 0
            X-linked dyserythropoietic anemia 1
            autosomal dominant tubulointerstitial kidney disease 4 1
            folic acid deficiency anemia + 4
            hypochromic anemia + 30
            macrocytic anemia + 31
            microcytic anemia + 259
            neonatal anemia + 2
            normocytic anemia + 756
            pancytopenia + 23
            protein-deficiency anemia 0
            pyridoxine deficiency anemia 1
paths to the root