Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal cellular immune system morphology
go back to main search page
Accession:HP:0010987 term browser browse the term
Definition:An abnormality of the morphology or counts of the cells that make up the immune system.
Synonyms:xref: UMLS:C4023612



show annotations for term's descendants           Sort by:
Abnormal cellular immune system morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Abnormal cellular immune system morphology ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Abnormal cellular immune system morphology ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYOC myocilin IAGP ClinVar Annotator: match by term: Abnormal cellular immune system morphology ClinVar PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More... NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP ClinVar Annotator: match by term: Abnormal cellular immune system morphology ClinVar PMID:25741868 PMID:28492532 PMID:30723080 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
Abnormal B cell count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase IAGP HPO MIM:208900 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G CARD9 caspase recruitment domain family member 9 IAGP HPO MIM:212050 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
JBrowse link
G CBLB Cbl proto-oncogene B IAGP HPO MIM:620430 NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
JBrowse link
G CD19 CD19 molecule IAGP HPO MIM:613493 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP HPO MIM:615615 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
JBrowse link
G CD81 CD81 molecule IAGP HPO MIM:613496 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO MIM:312863 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 IAGP HPO MIM:607676 NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
JBrowse link
G LAT linker for activation of T cells IAGP HPO MIM:617514 NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784
JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP HPO MIM:613495 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
JBrowse link
G RAG1 recombination activating 1 IAGP HPO ORPHA:331206 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP HPO ORPHA:331206 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G SH2D1A SH2 domain containing 1A IAGP HPO MIM:308240 NCBI chr  X:124,346,563...124,373,160
Ensembl chr  X:124,227,868...124,373,197
JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO MIM:308240 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972
JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO MIM:269840 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,744,327
JBrowse link
Abnormal B cell morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD3D CD3 delta subunit of T-cell receptor complex IAGP HPO MIM:615617 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,334,537...118,342,705
JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP HPO MIM:615607 NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161
JBrowse link
G CDCA7 cell division cycle associated 7 IAGP HPO MIM:616910 NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit severity IAGP DNA:SNP: :p.K751Q (rs13181) RGD PMID:19484764 RGD:11252204 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G HELLS helicase, lymphoid specific IAGP HPO MIM:616911 NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C RGD PMID:17712558 RGD:6893517 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA:snp:cds:p.R620W (rs2476601) RGD PMID:23287625 RGD:11533998 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G TBX2 T-box transcription factor 2 IAGP HPO MIM:618223 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466
JBrowse link
G XRCC1 X-ray repair cross complementing 1 severity
no_association
IAGP DNA:SNP: :p.R399Q (rs25487)
DNA:SNP: :p.R194W (rs1799782), p.R280H (25489)
RGD PMID:19484764 PMID:19484764 RGD:11252204, RGD:11252204 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
JBrowse link
Abnormal basophil morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO ORPHA:521 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:521 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO ORPHA:521 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
Abnormal CD4:CD8 ratio term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIITA class II major histocompatibility complex transactivator IAGP HPO ORPHA:572 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO MIM:618534 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G RFX5 regulatory factor X5 IAGP HPO ORPHA:572 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP HPO ORPHA:572 NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869
JBrowse link
G RFXAP regulatory factor X associated protein IAGP HPO ORPHA:572 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104
JBrowse link
G WDR1 WD repeat domain 1 IAGP HPO MIM:150550 NCBI chr 4:10,074,339...10,116,799
Ensembl chr 4:10,068,089...10,116,972
JBrowse link
Abnormal eosinophil count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD27 ankyrin repeat domain 27 IAGP DNA:SNPs:intron: (rs3815700, rs10410895) RGD PMID:25407941 RGD:11100048 NCBI chr19:32,597,006...32,675,180
Ensembl chr19:32,597,006...32,676,597
JBrowse link
Abnormal eosinophil morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN14 calpain 14 IAGP DNA:snps:multiple RGD PMID:25017104 RGD:11100049 NCBI chr 2:31,173,056...31,233,957
Ensembl chr 2:31,173,056...31,233,858
JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159
JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501
JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130
JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
JBrowse link
G TLR2 toll like receptor 2 IAGP RGD PMID:19763595 RGD:4145354 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
Abnormal granulocyte morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase IAGP HPO ORPHA:98907 NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371
JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO ORPHA:521 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:521 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:1451 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:missense mutations:cds:p.L55M, p.Q192R RGD PMID:19967651 RGD:11552576 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO ORPHA:521 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
Abnormal leukocyte count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL11A BCL11 transcription factor A IAGP DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G CALR calreticulin IAGP DNA:insertions, deletions, insertion/deletions:multiple
DNA:frameshift mutations:cds:p.L367fs*46, p.K385fs*47
RGD PMID:26375990 PMID:24997152 RGD:11097407, RGD:11352753 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity IAGP DNA:SNP:intron:g.+781C>T RGD PMID:24609754 RGD:150520201 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:p.R882H(human) RGD PMID:26072070 RGD:11041131 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP HPO MIM:612690 NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G HP haptoglobin IAGP DNA:missense mutations, duplication:cds, exons, introns:p.A52D, p.E53K, 31-207dup RGD PMID:24567965 RGD:11041787 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP associated with Myelodysplastic Syndromes;DNA:mutations:cds:p.R132S,R132C(human) RGD PMID:22033490 RGD:11522729 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 no_association IAGP associated with Leukemia, Myeloid, Acute; DNA:mutation:cds:p.R172(human)
associated with Leukemia, Myeloid, Acute; DNA:mutation:exon:
RGD PMID:20368543 PMID:23815907 RGD:11522718, RGD:11522728 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP associated with Leukemia, Myeloid, Acute;DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP RGD PMID:21828118 RGD:11251708 NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667
JBrowse link
Abnormal leukocyte morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO ORPHA:3322 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810
JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:3322 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G EPHX1 epoxide hydrolase 1 no_association
susceptibility
IAGP DNA:missense mutation, haplotype:exon:p.H139R (human)
DNA:polymorphism
DNA:SNPs:exon:rs1051740, rs2234922
DNA:polymorphisms:exon
DNA:missense mutation, haplotype:exon:p.Y113H (human)
RGD PMID:21983886 PMID:20731606 PMID:22200898 PMID:22930568 PMID:19593802 More... RGD:11252110, RGD:11252115, RGD:11252114, RGD:11252113, RGD:11252111, RGD:11252110 NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP DNA:haplotype RGD PMID:21987080 RGD:11340201 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G LBR lamin B receptor IAGP HPO ORPHA:1426 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:3322 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:3322 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:3322 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:3322 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility IAGP DNA:missense mutation, haplotype: :p.R399Q (human) RGD PMID:21983886 RGD:11252110 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
JBrowse link
Abnormal lymphocyte count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP HPO MIM:615615 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G MALT1 MALT1 paracaspase IAGP HPO MIM:615468 NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477
JBrowse link
G NOS3 nitric oxide synthase 3 IAGP associated with Beta-Thalassemia;DNA:repeats:intron: RGD PMID:25699607 RGD:11533642 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G SP110 SP110 nuclear body protein IAGP HPO ORPHA:79124 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729
JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO MIM:612783 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
JBrowse link
Abnormal lymphocyte morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IAGP HPO ORPHA:39041 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G CD28 CD28 molecule IAGP HPO ORPHA:2584 ORPHA:3162 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:39041 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:2584 ORPHA:3162 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO ORPHA:39041 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO MIM:613953 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO ORPHA:39041 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
G IL7R interleukin 7 receptor IAGP HPO ORPHA:39041 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:39041 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO ORPHA:293978 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G RAG1 recombination activating 1 IAGP HPO ORPHA:39041 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP HPO ORPHA:39041 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:39041 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP HPO MIM:609529 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IAGP HPO ORPHA:2584 ORPHA:3162 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
Abnormal macrophage morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO ORPHA:2585 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
JBrowse link
G SGCG sarcoglycan gamma IAGP HPO ORPHA:353 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
Abnormal mast cell morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 ORPHA:98850 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:98850 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CYP26C1 cytochrome P450 family 26 subfamily C member 1 IAGP HPO ORPHA:398189 NCBI chr10:93,060,798...93,069,540
Ensembl chr10:93,060,798...93,069,540
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO ORPHA:98850 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 ORPHA:98850 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:98849 ORPHA:98850 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
Abnormal myeloid leukocyte morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression IAGP DNA:SNPs, haplotypes: :p.D312N, p.K751Q RGD PMID:21394217 RGD:11252209 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
JBrowse link
Abnormal natural killer cell count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD9 caspase recruitment domain family member 9 IAGP HPO MIM:212050 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
JBrowse link
G CBLB Cbl proto-oncogene B IAGP HPO MIM:620430 NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO MIM:312863 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 IAGP HPO MIM:607676 NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
JBrowse link
G LAT linker for activation of T cells IAGP HPO MIM:617514 NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP HPO MIM:612260 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP HPO MIM:612782 NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218
JBrowse link
G RAG1 recombination activating 1 IAGP HPO ORPHA:331206 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP HPO ORPHA:331206 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G SP110 SP110 nuclear body protein IAGP HPO ORPHA:79124 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729
JBrowse link
Abnormal natural killer cell morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD3D CD3 delta subunit of T-cell receptor complex IAGP HPO MIM:615617 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,334,537...118,342,705
JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit IAGP HPO MIM:615966 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
JBrowse link
Abnormal neutrophil count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEBPE CCAAT enhancer binding protein epsilon IAGP HPO MIM:245480 NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DPYD dihydropyrimidine dehydrogenase treatment IAGP associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 RGD PMID:23942539 RGD:11251737 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment IAGP associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment IAGP associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) RGD PMID:21047201 RGD:11098572 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO ORPHA:228423 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
JBrowse link
Abnormal neutrophil morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 IAGP HPO ORPHA:51636 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link
G RPS14 ribosomal protein S14 IAGP HPO ORPHA:86841 NCBI chr 5:150,442,635...150,449,739
Ensembl chr 5:150,442,635...150,449,739
JBrowse link
Abnormal proportion of CD4-positive T cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD9 caspase recruitment domain family member 9 IAGP HPO MIM:212050 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:133 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
JBrowse link
Abnormal proportion of CD8-positive T cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G CARD9 caspase recruitment domain family member 9 IAGP HPO MIM:212050 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936
JBrowse link
Abnormal proportion of naive CD4 T cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
JBrowse link
Abnormal T cell count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase IAGP HPO MIM:307200 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CBLB Cbl proto-oncogene B IAGP HPO MIM:620430 NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
JBrowse link
G CD19 CD19 molecule IAGP HPO MIM:240500 MIM:613493 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP DNA:nonsense mutation:cds: RGD PMID:12824768 RGD:1358439 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,334,537...118,342,705
JBrowse link
G CD81 CD81 molecule IAGP HPO MIM:613496 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO MIM:240500 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP DNA:splice site,nonsense, missense mutations:cds, splice junction: RGD PMID:25329329 RGD:11053601 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA RGD PMID:26476407 RGD:11251730 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G ICOS inducible T cell costimulator IAGP HPO MIM:240500 MIM:607594 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IL21 interleukin 21 IAGP HPO MIM:615767 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO MIM:312863 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 IAGP HPO MIM:607676 NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP HPO MIM:613495 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
JBrowse link
G RAG1 recombination activating 1 IAGP HPO ORPHA:331206 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP HPO ORPHA:331206 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G SH2D1A SH2 domain containing 1A IAGP HPO MIM:308240 NCBI chr  X:124,346,563...124,373,160
Ensembl chr  X:124,227,868...124,373,197
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP HPO MIM:240500 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP HPO MIM:240500 MIM:613494 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO MIM:308240 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972
JBrowse link
Abnormal T cell morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLNK B cell linker IAGP HPO MIM:613502 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587
JBrowse link
G CD28 CD28 molecule IAGP HPO ORPHA:3162 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
JBrowse link
G CD4 CD4 molecule IAGP HPO MIM:613949 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799
JBrowse link
G CD79A CD79a molecule IAGP HPO MIM:613501 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G CD79B CD79b molecule IAGP HPO MIM:612692 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:3162 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP HPO MIM:613500 NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO MIM:615214 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PNP purine nucleoside phosphorylase IAGP HPO ORPHA:760 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094
JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO MIM:242900 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IAGP HPO ORPHA:3162 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
Abnormal T cell subset distribution term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
Abnormality of neutrophil physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LYST lysosomal trafficking regulator IAGP HPO ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO ORPHA:183707 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
Abnormality of neutrophils term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK2 adenylate kinase 2 IAGP HPO ORPHA:33355 NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996
JBrowse link
G CDCA7 cell division cycle associated 7 IAGP HPO ORPHA:2268 NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP HPO ORPHA:379 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO ORPHA:379 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO ORPHA:379 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO ORPHA:2268 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
JBrowse link
G HELLS helicase, lymphoid specific IAGP HPO ORPHA:2268 NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:36426 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO ORPHA:36426 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:169400 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP HPO ORPHA:33226 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:379 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP HPO ORPHA:379 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP HPO ORPHA:379 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017
JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:1451 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO ORPHA:2585 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO ORPHA:111 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726
JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
G UHRF1 ubiquitin like with PHD and ring finger domains 1 IAGP HPO ORPHA:2268 NCBI chr19:4,903,080...4,962,154
Ensembl chr19:4,903,080...4,962,154
JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP HPO ORPHA:2268 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239
JBrowse link
Abnormally low T cell receptor excision circle level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL11B BCL11 transcription factor B IAGP HPO MIM:617237 MIM:618092 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO MIM:602450 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO MIM:617425 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
JBrowse link
G FOXN1 forkhead box N1 IAGP HPO MIM:618806 NCBI chr17:28,506,348...28,538,900
Ensembl chr17:28,506,243...28,538,900
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO ORPHA:276 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
G LCP2 lymphocyte cytosolic protein 2 IAGP HPO MIM:619374 NCBI chr 5:170,246,233...170,297,777
Ensembl chr 5:170,246,233...170,297,815
JBrowse link
G PSMB10 proteasome 20S subunit beta 10 IAGP HPO MIM:620807 NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP HPO MIM:620796 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO MIM:608203 MIM:618986 MIM:618987 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
G RPA1 replication protein A1 IAGP HPO MIM:619767 NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082
JBrowse link
G STN1 STN1 subunit of CST complex IAGP HPO MIM:617341 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
JBrowse link
Absence of CD8-positive T cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD8A CD8 subunit alpha IAGP HPO MIM:608957 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO MIM:269840 ORPHA:911 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,744,327
JBrowse link
Absent circulating B cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase IAGP HPO MIM:307200 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CD79A CD79a molecule IAGP HPO MIM:613501 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G FNIP1 folliculin interacting protein 1 IAGP HPO MIM:619705 NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017
JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP HPO MIM:613500 NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
JBrowse link
G SLC39A7 solute carrier family 39 member 7 IAGP HPO MIM:619693 NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439
JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP HPO MIM:619707 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369
JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 IAGP HPO MIM:620282 NCBI chr 1:7,915,871...7,940,839
Ensembl chr 1:7,915,871...7,943,165
JBrowse link
Absent microvilli on the surface of peripheral blood lymphocytes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:301000 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
Absent natural killer cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GINS1 GINS complex subunit 1 IAGP HPO MIM:617827 NCBI chr20:25,407,673...25,448,563
Ensembl chr20:25,391,008...25,452,700
JBrowse link
G JAK3 Janus kinase 3 IAGP HPO MIM:600802 ORPHA:35078 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
Absent neutrophil lactoferrin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEBPE CCAAT enhancer binding protein epsilon IAGP HPO MIM:245480 NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256
JBrowse link
Absent neutrophil specific granules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEBPE CCAAT enhancer binding protein epsilon IAGP HPO MIM:245480 NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256
JBrowse link
G SMARCD2 SWI/SNF related BAF chromatin remodeling complex subunit D2 IAGP HPO MIM:617475 NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065
JBrowse link
Acute leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:231401 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G CALR calreticulin IAGP HPO ORPHA:3318 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO ORPHA:289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO ORPHA:228423 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:3318 ORPHA:729 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:99812 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:3318 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G NBN nibrin IAGP HPO ORPHA:647 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO ORPHA:3318 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G STS steroid sulfatase IAGP HPO ORPHA:281090 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:3318 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TP53 tumor protein p53 IAGP HPO MIM:151623 ORPHA:3318 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:2770 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO ORPHA:2770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO ORPHA:99812 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787
JBrowse link
Acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO MIM:208900 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G BAX BCL2 associated X, apoptosis regulator IAGP HPO MIM:613065 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP ClinVar Annotator: match by term: Acute lymphocytic leukemia ClinVar
HPO
PMID:25741868 PMID:28492532 MIM:613065 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Acute lymphocytic leukemia HPO
ClinVar
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More... ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2B-AS1 CDKN2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr 9:21,994,791...22,128,142
Ensembl chr 9:21,994,139...22,212,895
JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:486 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G ERG ETS transcription factor ERG IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr21:38,367,261...38,661,783
Ensembl chr21:38,380,027...38,661,780
JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP ClinVar Annotator: match by term: Acute lymphoblastic leukemia ClinVar PMID:26102509 NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar
HPO
PMID:11290608 PMID:11442493 PMID:14670924 MIM:613065 NCBI chr13:28,003,274...28,100,576
Ensembl chr13:28,003,274...28,100,592
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO ORPHA:486 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Acute lymphoblastic leukemia
ClinVar Annotator: match by term: Acute lymphocytic leukemia
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
HPO
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... MIM:613065 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292
JBrowse link
G HAX1 HCLS1 associated protein X-1 IAGP HPO MIM:610738 NCBI chr 1:154,272,629...154,275,875
Ensembl chr 1:154,272,355...154,275,875
JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar Annotator: match by term: Acute lymphocytic leukemia
ClinVar
HPO
PMID:25741868 PMID:27993330 PMID:28492532 MIM:616873 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO MIM:606593 ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LOC105376032 uncharacterized LOC105376032 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:25741868 PMID:27993330 NCBI chr 9:37,002,193...37,009,052 JBrowse link
G LOC126860438 MED14-independent group 3 enhancer GRCh37_chr8:90959982-90961181 IAGP ClinVar Annotator: match by term: Acute lymphocytic leukemia ClinVar PMID:9590180 PMID:16415040 PMID:23555315 PMID:24763289 PMID:25186627 More... NCBI chr 8:89,947,754...89,948,953 JBrowse link
G LOC126861452 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394 IAGP ClinVar Annotator: match by term: Acute lymphoblastic leukemia ClinVar PMID:26102509 NCBI chr12:11,884,261...11,885,460 JBrowse link
G LOC130001608 ATAC-STARR-seq lymphoblastoid silent region 19815 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr 9:22,008,647...22,008,846 JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO MIM:605275 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G NBN nibrin IAGP ClinVar Annotator: match by term: Acute lymphatic leukemia
ClinVar Annotator: match by term: Acute lymphocytic leukemia
ClinVar Annotator: match by term: Acute lymphoblastic leukemia
ClinVar
HPO
PMID:2952226 PMID:9590180 PMID:11325820 PMID:12353271 PMID:12376507 More... MIM:613065 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G NUP214 nucleoporin 214 IAGP HPO MIM:613065 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663
JBrowse link
G PAX5 paired box 5 IAGP ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:25741868 PMID:27993330 PMID:30643249 NCBI chr 9:36,833,269...37,034,268
Ensembl chr 9:36,833,269...37,034,268
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G SRP19 signal recognition particle 19 IAGP HPO ORPHA:486 NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371
JBrowse link
G TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor IAGP HPO MIM:613065 NCBI chr 1:47,216,290...47,232,335
Ensembl chr 1:47,216,290...47,232,225
JBrowse link
G TAL2 TAL bHLH transcription factor 2 IAGP HPO MIM:613065 NCBI chr 9:105,662,457...105,663,124
Ensembl chr 9:105,662,457...105,663,124
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:486 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
JBrowse link
Acute megakaryocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CORO7 coronin 7 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr16:4,354,542...4,416,596
Ensembl chr16:4,354,542...4,425,705
JBrowse link
G CORO7-PAM16 CORO7-PAM16 readthrough IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr16:4,340,251...4,416,596
Ensembl chr16:4,340,251...4,420,494
JBrowse link
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar PMID:15070711 PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 More... NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311
JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr 6:37,630,679...37,697,883
Ensembl chr 6:37,630,679...37,699,306
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G PCF11 PCF11 cleavage and polyadenylation factor subunit IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr11:83,157,131...83,187,451
Ensembl chr11:83,156,988...83,187,451
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar PMID:9735393 PMID:10848731 PMID:10866302 PMID:16773562 PMID:17941496 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RASAL3 RAS protein activator like 3 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr19:15,451,624...15,464,544
Ensembl chr19:15,451,624...15,464,544
JBrowse link
G SLC9A2 solute carrier family 9 member A2 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar NCBI chr 2:102,619,553...102,711,355
Ensembl chr 2:102,619,553...102,711,355
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Acute megakaryocytic leukemia ClinVar PMID:11370630 PMID:20522432 PMID:25741868 PMID:28492532 PMID:33300245 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
Acute monocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELANE elastase, neutrophil expressed IAGP HPO MIM:202700 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Acute monoblastic leukemia ClinVar PMID:25741868 PMID:28492532 PMID:29290338 PMID:33471991 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO MIM:601399 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
JBrowse link
Acute myeloid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide IAGP HPO MIM:619151 NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G ATG2B autophagy related 2B IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,279,195...96,363,341
Ensembl chr14:96,279,195...96,363,341
JBrowse link
G BDKRB1 bradykinin receptor B1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
JBrowse link
G BDKRB2 bradykinin receptor B2 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO MIM:605724 MIM:613029 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G C14orf132 chromosome 14 open reading frame 132 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,039,362...96,093,971
Ensembl chr14:96,039,362...96,093,971
JBrowse link
G CBFB core-binding factor subunit beta IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:25741868 PMID:36241386 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Leukemia, acute myelogenous
ClinVar
HPO
PMID:11242107 PMID:12661007 PMID:12692518 PMID:14726504 PMID:15575056 More... MIM:601626 NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CHIC2 cysteine rich hydrophobic domain 2 IAGP HPO MIM:601626 NCBI chr 4:54,009,789...54,091,879
Ensembl chr 4:53,994,803...54,064,605
JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:486 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
JBrowse link
G DDX41 DEAD-box helicase 41 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
HPO
ClinVar
PMID:25741868 PMID:25920683 PMID:26712909 PMID:27133828 PMID:28492532 More... MIM:616871 NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO MIM:305000 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia HPO
ClinVar
PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:30755392 MIM:260400 MIM:617052 ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar
HPO
PMID:21067377 PMID:22722925 PMID:24614070 PMID:24622842 PMID:24656771 More... MIM:601626 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO MIM:133180 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar
HPO
PMID:15806161 PMID:25581430 PMID:25741868 PMID:25807284 PMID:27666367 More... MIM:601626 NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:17436244 PMID:23613520 PMID:25741868 PMID:28492532 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar
HPO
PMID:11290608 PMID:11442493 PMID:12384447 PMID:14670924 PMID:25741868 MIM:601626 NCBI chr13:28,003,274...28,100,576
Ensembl chr13:28,003,274...28,100,592
JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311
JBrowse link
G GATA2 GATA binding protein 2 IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
HPO
PMID:21892158 PMID:21892162 PMID:23502222 PMID:24033149 PMID:24077845 More... MIM:601626 MIM:614038 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO MIM:607847 ORPHA:486 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
JBrowse link
G GPATCH1 G-patch domain containing 1 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:33,081,181...33,130,542
Ensembl chr19:33,080,899...33,130,542
JBrowse link
G GSKIP GSK3B interacting protein IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,363,526...96,387,290
Ensembl chr14:96,363,452...96,387,288
JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar PMID:25741868 PMID:27993330 PMID:29950729 PMID:30231226 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G INSL6 insulin like 6 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 9:4,991,976...5,185,639
Ensembl chr 9:5,123,880...5,185,647
JBrowse link
G JAK1 Janus kinase 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754
JBrowse link
G JAK2 Janus kinase 2 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar
HPO
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... MIM:601626 ORPHA:71493 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar
HPO
PMID:7513208 PMID:8589724 PMID:9657776 PMID:19865100 PMID:24728327 More... MIM:601626 ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G KLK2 kallikrein related peptidase 2 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:25741868 PMID:37593117 NCBI chr19:50,873,439...50,880,567
Ensembl chr19:50,861,568...50,880,567
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myeloblastic leukemia
ClinVar
HPO
PMID:7773929 PMID:8246952 PMID:8439212 PMID:8955068 PMID:9362444 More... MIM:601626 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32321774 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC107303338 3p25 FANCD2 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:17436244 PMID:23613520 PMID:25741868 PMID:28492532 NCBI chr 3:10,030,947...10,078,653 JBrowse link
G LOC107984703 uncharacterized LOC107984703 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,715,483...95,756,779 JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:1,294,628...1,298,988 JBrowse link
G LOC112272571 Sharpr-MPRA regulatory region 11883 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,363,212...96,364,247 JBrowse link
G LOC126805749 BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr 1:64,846,284...64,847,802 JBrowse link
G LOC126807619 MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:12464997 PMID:25741868 PMID:28492532 NCBI chr 5:177,269,442...177,270,641 JBrowse link
G LOC126861451 BRD4-independent group 4 enhancer GRCh37_chr12:11991350-11992549 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:15806161 NCBI chr12:11,838,416...11,839,615 JBrowse link
G LOC126862036 MED14-independent group 3 enhancer GRCh37_chr14:96357499-96358698 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,891,162...95,892,361 JBrowse link
G LOC126862037 CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96552361-96553560 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,086,024...96,087,223 JBrowse link
G LOC126862038 CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96734992-96736191 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,268,655...96,269,854 JBrowse link
G LOC129390666 MPRA-validated peak2244 silencer IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,935,319...95,935,519 JBrowse link
G LOC129934333 ATAC-STARR-seq lymphoblastoid silent region 11759 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:20923864 PMID:25741868 PMID:28492532 NCBI chr 2:96,265,257...96,265,566 JBrowse link
G LOC130056381 ATAC-STARR-seq lymphoblastoid active region 8971 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,697,817...95,697,906 JBrowse link
G LOC130056382 ATAC-STARR-seq lymphoblastoid active region 8972 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,699,577...95,699,766 JBrowse link
G LOC130056383 ATAC-STARR-seq lymphoblastoid active region 8973 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,712,186...95,712,285 JBrowse link
G LOC130056384 ATAC-STARR-seq lymphoblastoid active region 8974 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,712,326...95,712,485 JBrowse link
G LOC130056385 ATAC-STARR-seq lymphoblastoid active region 8975 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,712,526...95,712,745 JBrowse link
G LOC130056386 ATAC-STARR-seq lymphoblastoid active region 8976 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,713,860...95,713,909 JBrowse link
G LOC130056387 ATAC-STARR-seq lymphoblastoid silent region 6050 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,714,140...95,714,379 JBrowse link
G LOC130056388 ATAC-STARR-seq lymphoblastoid active region 8977 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,726,228...95,726,327 JBrowse link
G LOC130056389 ATAC-STARR-seq lymphoblastoid active region 8978 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,726,348...95,726,417 JBrowse link
G LOC130056390 ATAC-STARR-seq lymphoblastoid active region 8979 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,729,680...95,729,829 JBrowse link
G LOC130056391 ATAC-STARR-seq lymphoblastoid active region 8980 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,729,890...95,729,969 JBrowse link
G LOC130056392 ATAC-STARR-seq lymphoblastoid silent region 6051 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,039,212...96,039,401 JBrowse link
G LOC130056393 ATAC-STARR-seq lymphoblastoid silent region 6052 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,039,422...96,039,471 JBrowse link
G LOC130056394 ATAC-STARR-seq lymphoblastoid active region 8981 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,052,146...96,052,205 JBrowse link
G LOC130056395 ATAC-STARR-seq lymphoblastoid active region 8982 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,078,108...96,078,157 JBrowse link
G LOC130056396 ATAC-STARR-seq lymphoblastoid active region 8983 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,126,370...96,126,539 JBrowse link
G LOC130056397 ATAC-STARR-seq lymphoblastoid active region 8985 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,361,901...96,361,970 JBrowse link
G LOC130064183 ATAC-STARR-seq lymphoblastoid silent region 10495 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar PMID:25741868 PMID:28492532 NCBI chr19:33,302,365...33,302,934 JBrowse link
G LOC132090293 Neanderthal introgressed variant-containing enhancer experimental_38841 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,092,173...96,092,342 JBrowse link
G LOC132090294 Neanderthal introgressed variant-containing enhancer experimental_38870 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:96,286,395...96,286,564 JBrowse link
G LPP LIM domain containing preferred translocation partner in lipoma IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar
HPO
PMID:25741868 MIM:601626 NCBI chr 3:188,153,021...188,890,671
Ensembl chr 3:188,153,284...188,890,671
JBrowse link
G LRP3 LDL receptor related protein 3 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:33,194,330...33,208,864
Ensembl chr19:33,177,603...33,208,864
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase IAGP HPO MIM:619975 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179
JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:3243 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MFSD11 major facilitator superfamily domain containing 11 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar NCBI chr17:76,736,634...76,803,805
Ensembl chr17:76,735,865...76,781,449
JBrowse link
G MLF1 myeloid leukemia factor 1 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar NCBI chr 3:158,571,194...158,606,456
Ensembl chr 3:158,571,163...158,607,252
JBrowse link
G MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar
HPO
PMID:25741868 MIM:601626 NCBI chr10:21,533,756...21,743,630
Ensembl chr10:21,524,646...21,743,630
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:71493 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G NPM1 nucleophosmin 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
HPO
PMID:15659725 PMID:20026798 PMID:25741868 PMID:28492532 PMID:32581362 MIM:601626 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar PMID:3102434 PMID:18633438 PMID:25741868 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:17565729 More... NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NUP214 nucleoporin 214 IAGP HPO MIM:601626 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO MIM:610832 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PHF6 PHD finger protein 6 severity IAGP DNA:mutations:multiple RGD PMID:31186809 RGD:155260286 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791
JBrowse link
G PICALM phosphatidylinositol binding clathrin assembly protein IAGP HPO MIM:601626 NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32321774 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP HPO ORPHA:3243 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G RHPN2 rhophilin Rho GTPase binding protein 2 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:32,978,592...33,064,888
Ensembl chr19:32,978,592...33,064,888
JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374
JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959
JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032
JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981
JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610
JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587
JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931
JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069
JBrowse link
G RPS14 ribosomal protein S14 IAGP HPO ORPHA:86841 NCBI chr 5:150,442,635...150,449,739
Ensembl chr 5:150,442,635...150,449,739
JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383
JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459
JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155
JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:16199547 PMID:23453664 PMID:23959892 PMID:25607374 PMID:25741868 More... NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:16199547 PMID:23453664 PMID:23959892 PMID:25607374 PMID:25741868 More... NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
HPO
PMID:12172547 PMID:16199547 PMID:18723428 PMID:19808697 PMID:20722699 More... MIM:601399 MIM:601626 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G RUNX1-AS1 RUNX1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar PMID:16199547 PMID:18723428 PMID:19808697 PMID:20722699 PMID:24100448 More... NCBI chr21:34,836,313...34,885,052
Ensembl chr21:34,836,286...34,884,882
JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO MIM:619041 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO MIM:252270 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO MIM:260400 ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
HPO
ClinVar
ORPHA:75564 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar
HPO
PMID:25741868 MIM:601626 NCBI chr19:4,360,370...4,400,547
Ensembl chr19:4,360,370...4,400,547
JBrowse link
G SLC7A10 solute carrier family 7 member 10 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:33,208,664...33,225,850
Ensembl chr19:33,208,664...33,225,850
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G SRP19 signal recognition particle 19 IAGP HPO ORPHA:486 NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371
JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO MIM:260400 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar
HPO
ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:486 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TCL1A TCL1 family AKT coactivator A IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,709,947...95,714,125
Ensembl chr14:95,709,947...95,714,196
JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar
HPO
PMID:15814878 PMID:16247010 PMID:17392301 PMID:17460043 PMID:18042801 More... MIM:601626 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:75564 ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TGM6 transglutaminase 6 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:21106500 PMID:23206699 PMID:24755948 PMID:25253745 PMID:26467025 More... NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
JBrowse link
G THPO thrombopoietin IAGP HPO ORPHA:71493 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
JBrowse link
G TMEM127 transmembrane protein 127 IAGP ClinVar Annotator: match by term: Acute myelocytic leukemia ClinVar PMID:20923864 PMID:25741868 PMID:28492532 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar
HPO
PMID:253702 PMID:1631137 PMID:1631151 PMID:1975675 PMID:1978757 More... ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar PMID:25741868 PMID:26580448 PMID:28492532 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032
JBrowse link
G TUNAR transmembrane neural differentiation associated intracellular calcium regulator IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar NCBI chr14:95,876,448...95,925,571
Ensembl chr14:95,866,587...95,925,663
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO MIM:616435 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
JBrowse link
G WDR88 WD repeat domain 88 IAGP ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar PMID:28492532 NCBI chr19:33,132,114...33,175,799
Ensembl chr19:33,132,090...33,175,799
JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Acute myelogenous leukemia
ClinVar Annotator: match by term: Acute myeloid leukemia
ClinVar PMID:25145932 PMID:25741868 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP DNA:missense mutations:multiple (human) RGD PMID:22343920 RGD:151232292 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,156...15,830,694
JBrowse link
Acute myelomonocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO MIM:159550 ORPHA:2585 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
JBrowse link
Acute promyelocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP002490.1 novel transcript IAGP ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:72,014,291...72,020,910
Ensembl chr11:72,014,291...72,020,910
JBrowse link
G IL18BP interleukin 18 binding protein IAGP ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:71,998,909...72,008,200
Ensembl chr11:71,998,613...72,007,315
JBrowse link
G LOC129934333 ATAC-STARR-seq lymphoblastoid silent region 11759 IAGP ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 PMID:32575117 NCBI chr 2:96,265,257...96,265,566 JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G RARA retinoic acid receptor alpha IAGP HPO MIM:612376 NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G TMEM127 transmembrane protein 127 IAGP ClinVar Annotator: match by term: Acute promyelocytic leukemia ClinVar PMID:25741868 PMID:28492532 PMID:32575117 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
JBrowse link
Agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NQO2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 IAGP associated with schizophrenia;DNA:SNPs:exons, intron:multiple RGD PMID:14617031 RGD:11073696 NCBI chr 6:2,999,894...3,019,755
Ensembl chr 6:2,987,987...3,019,755
JBrowse link
G TLR8 toll like receptor 8 IAGP HPO MIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169
JBrowse link
B Acute Lymphoblastic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP HPO MIM:613029 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:23623386 PMID:25741868 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G ETV6 ETS variant transcription factor 6 IAGP HPO MIM:616216 NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chr11:32,430,169...32,437,423 JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G TCF3 transcription factor 3 IAGP HPO MIM:619824 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
B lymphocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IAGP HPO MIM:102700 ORPHA:277 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 IAGP HPO MIM:618459 NCBI chr19:41,883,184...41,930,141
Ensembl chr19:41,883,173...41,930,150
JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP HPO MIM:619851 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G B2M beta-2-microglobulin IAGP HPO MIM:241600 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO MIM:300755 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CD79B CD79b molecule IAGP HPO MIM:612692 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP HPO MIM:620133 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO MIM:602450 MIM:603554 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP HPO ORPHA:217390 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G FCHO1 FCH and mu domain containing endocytic adaptor 1 IAGP HPO MIM:619164 NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568
JBrowse link
G FNIP1 folliculin interacting protein 1 IAGP HPO MIM:619705 NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017
JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO MIM:614172 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO MIM:613107 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
JBrowse link
G ICOS inducible T cell costimulator IAGP HPO MIM:607594 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP HPO MIM:601495 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO MIM:301081 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO MIM:616873 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G IKZF3 IKAROS family zinc finger 3 IAGP HPO MIM:619437 NCBI chr17:39,757,715...39,864,312
Ensembl chr17:39,757,715...39,864,312
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO MIM:606367 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IVNS1ABP influenza virus NS1A binding protein IAGP HPO MIM:618969 NCBI chr 1:185,296,388...185,317,243
Ensembl chr 1:185,292,931...185,317,273
JBrowse link
G JAK3 Janus kinase 3 IAGP HPO ORPHA:35078 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
JBrowse link
G MAP3K14 mitogen-activated protein kinase kinase kinase 14 IAGP HPO MIM:620449 NCBI chr17:45,263,119...45,317,020
Ensembl chr17:45,263,119...45,317,029
JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor IAGP HPO MIM:619313 NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,558...13,211,110
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP HPO MIM:612260 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 IAGP HPO ORPHA:508542 NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090
JBrowse link
G NBN nibrin IAGP HPO MIM:251260 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
JBrowse link
G NHEJ1 non-homologous end joining factor 1 IAGP HPO ORPHA:169079 NCBI chr 2:219,069,357...219,160,815
Ensembl chr 2:219,069,355...219,160,869
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO MIM:619281 ORPHA:221139 ORPHA:397596 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO MIM:616005 ORPHA:397596 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO MIM:620836 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G POMP proteasome maturation protein IAGP HPO MIM:618048 NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit IAGP HPO MIM:615966 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
JBrowse link
G PSMB10 proteasome 20S subunit beta 10 IAGP HPO MIM:620807 NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:397596 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C IAGP HPO MIM:619924 NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,759,342
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO MIM:618986 MIM:618987 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
JBrowse link
G RAG1 recombination activating 1 IAGP HPO MIM:233650 MIM:601457 MIM:603554 ORPHA:231154 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP HPO MIM:233650 MIM:601457 MIM:603554 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G REL REL proto-oncogene, NF-kB subunit IAGP HPO MIM:619652 NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612
JBrowse link
G RFX5 regulatory factor X5 IAGP HPO MIM:620816 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326
JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 IAGP HPO MIM:618108 NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187
JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO MIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201
JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
G SYK spleen associated tyrosine kinase IAGP HPO MIM:619381 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
G TCF3 transcription factor 3 IAGP HPO MIM:616941 MIM:619824 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
JBrowse link
G TLR8 toll like receptor 8 IAGP HPO MIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169
JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO MIM:616084 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435
JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP HPO MIM:615518 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
JBrowse link
G WDR1 WD repeat domain 1 IAGP HPO MIM:150550 NCBI chr 4:10,074,339...10,116,799
Ensembl chr 4:10,068,089...10,116,972
JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP HPO MIM:614069 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239
JBrowse link
Bone-marrow foam cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPA lipase A, lysosomal acid type IAGP HPO MIM:278000 ORPHA:75233 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G NEU1 neuraminidase 1 IAGP HPO MIM:256550 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP HPO MIM:257220 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 IAGP HPO MIM:607625 NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO MIM:257200 MIM:607616 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
Chronic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP DNA:gene fusion RGD PMID:22806436 RGD:11075089 NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP DNA:gene fusion RGD PMID:22806436 RGD:11075089 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
Chronic lymphatic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:3243 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO MIM:616005 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP HPO ORPHA:3243 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Chronic lymphocytic leukemia
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G XPO1 exportin 1 IAGP ClinVar Annotator: match by term: Chronic lymphatic leukemia ClinVar NCBI chr 2:61,477,849...61,538,612
Ensembl chr 2:61,476,032...61,538,741
JBrowse link
Chronic myelogenous leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Chronic myelocytic leukemia
ClinVar Annotator: match by term: Chronic myelogenous leukemia
ClinVar Annotator: match by term: Chronic myeloid leukemia
ClinVar
HPO
PMID:10988075 PMID:11423618 PMID:12130516 PMID:25686603 PMID:25741868 More... MIM:608232 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar
HPO
PMID:25741868 PMID:28492532 MIM:608232 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G CSF3R colony stimulating factor 3 receptor IAGP ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278
JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:71493 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:8439212 PMID:15696205 PMID:17332249 PMID:17704260 PMID:19047918 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:71493 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:25741868 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
JBrowse link
G THPO thrombopoietin IAGP HPO ORPHA:71493 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
JBrowse link
Chronic myelomonocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
Chronic neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC40 cell division cycle 40 IAGP HPO MIM:619302 NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 IAGP HPO MIM:619407 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO ORPHA:500095 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 IAGP HPO MIM:619301 NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
JBrowse link
Congenital agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK2 adenylate kinase 2 IAGP HPO MIM:267500 NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996
JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO MIM:202700 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
Cutaneous mastocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Cutaneous mastocytosis ClinVar
HPO
PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... MIM:154800 ORPHA:280785 ORPHA:280794 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
Cyclic neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELANE elastase, neutrophil expressed IAGP ClinVar Annotator: match by term: Neutropenia cyclic ClinVar
HPO
MIM:162800 ORPHA:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:232240 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO MIM:302060 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726
JBrowse link
Decreased basophil count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACH2 BTB domain and CNC homolog 2 IAGP HPO MIM:618394 NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843
JBrowse link
Decreased CD4:CD8 ratio term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP HPO MIM:608233 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762
JBrowse link
G CASP8 caspase 8 IAGP HPO MIM:607271 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CTPS1 CTP synthase 1 IAGP HPO MIM:615897 NCBI chr 1:40,979,696...41,012,565
Ensembl chr 1:40,979,300...41,012,565
JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO MIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771
JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO MIM:614038 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO MIM:606367 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO MIM:618495 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118
JBrowse link
G MAGT1 magnesium transporter 1 IAGP HPO MIM:300853 NCBI chr  X:77,825,747...77,895,568
Ensembl chr  X:77,825,747...77,899,271
JBrowse link
G RFXAP regulatory factor X associated protein IAGP HPO MIM:620817 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104
JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP HPO MIM:615518 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:300299 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
Decreased eosinophil count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:96253 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:96253 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CARD10 caspase recruitment domain family member 10 IAGP HPO MIM:619632 NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542
JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:96253 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:96253 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:96253 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP HPO ORPHA:96253 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606
JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:96253 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
JBrowse link
Decreased FOXP3-expressing T cell count term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP3 forkhead box P3 IAGP HPO MIM:304790 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
Decreased helper T cell proportion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXN1 forkhead box N1 IAGP HPO MIM:601705 NCBI chr17:28,506,348...28,538,900
Ensembl chr17:28,506,243...28,538,900
JBrowse link
Decreased proportion of CD3-positive T cells term browser