Term: | Abnormal cellular immune system morphology |
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Accession: | HP:0010987
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browse the term
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Definition: | An abnormality of the morphology or counts of the cells that make up the immune system. |
Synonyms: | xref: | UMLS:C4023612 |
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LOC126861898 |
BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 |
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IAGP |
ClinVar Annotator: match by term: Abnormal cellular immune system morphology |
ClinVar |
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:21310275 PMID:22857948 PMID:22975586 PMID:23233322 PMID:23283745 PMID:23299917 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24714796 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:28138913 PMID:28408708 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29300372 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
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NCBI chr14:23,424,400...23,425,599
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MYH7 |
myosin heavy chain 7 |
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IAGP |
ClinVar Annotator: match by term: Abnormal cellular immune system morphology |
ClinVar |
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:21310275 PMID:22857948 PMID:22975586 PMID:23233322 PMID:23283745 PMID:23299917 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24714796 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:28138913 PMID:28408708 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29300372 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
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NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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MYOC |
myocilin |
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IAGP |
ClinVar Annotator: match by term: Abnormal cellular immune system morphology |
ClinVar |
PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 PMID:11535458 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12522550 PMID:12872267 PMID:15069026 PMID:17562996 PMID:17615537 PMID:19023451 PMID:20021252 PMID:22933836 PMID:23029558 PMID:23304066 PMID:24732711 PMID:25741868 PMID:26396484 PMID:28492532 PMID:30267046 More...
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NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688
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RAC2 |
Rac family small GTPase 2 |
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IAGP |
ClinVar Annotator: match by term: Abnormal cellular immune system morphology |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30723080 |
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NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
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ATM |
ATM serine/threonine kinase |
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IAGP |
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HPO |
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MIM:208900 |
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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CARD9 |
caspase recruitment domain family member 9 |
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IAGP |
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HPO |
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MIM:212050 |
NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
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CBLB |
Cbl proto-oncogene B |
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IAGP |
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HPO |
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MIM:620430 |
NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
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CD19 |
CD19 molecule |
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IAGP |
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HPO |
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MIM:613493 |
NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
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CD3E |
CD3 epsilon subunit of T-cell receptor complex |
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IAGP |
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HPO |
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MIM:615615 |
NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
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CD81 |
CD81 molecule |
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IAGP |
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HPO |
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MIM:613496 |
NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
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IL2RG |
interleukin 2 receptor subunit gamma |
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IAGP |
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HPO |
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MIM:312863 |
NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108
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IRAK4 |
interleukin 1 receptor associated kinase 4 |
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IAGP |
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HPO |
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MIM:607676 |
NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
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LAT |
linker for activation of T cells |
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IAGP |
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HPO |
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MIM:617514 |
NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784
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MS4A1 |
membrane spanning 4-domains A1 |
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IAGP |
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HPO |
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MIM:613495 |
NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
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RAG1 |
recombination activating 1 |
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IAGP |
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HPO |
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ORPHA:331206 |
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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RAG2 |
recombination activating 2 |
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IAGP |
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HPO |
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ORPHA:331206 |
NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
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SH2D1A |
SH2 domain containing 1A |
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IAGP |
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HPO |
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MIM:308240 |
NCBI chr X:124,346,563...124,373,160
Ensembl chr X:124,227,868...124,373,197
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XIAP |
X-linked inhibitor of apoptosis |
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IAGP |
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HPO |
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MIM:308240 |
NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972
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ZAP70 |
zeta chain of T cell receptor associated protein kinase 70 |
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IAGP |
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HPO |
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MIM:269840 |
NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,744,327
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CD3D |
CD3 delta subunit of T-cell receptor complex |
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IAGP |
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HPO |
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MIM:615617 |
NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,334,537...118,342,705
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CD3G |
CD3 gamma subunit of T-cell receptor complex |
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IAGP |
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HPO |
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MIM:615607 |
NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161
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CDCA7 |
cell division cycle associated 7 |
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IAGP |
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HPO |
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MIM:616910 |
NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997
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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
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HELLS |
helicase, lymphoid specific |
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IAGP |
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HPO |
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MIM:616911 |
NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905
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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
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PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
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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
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TBX2 |
T-box transcription factor 2 |
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IAGP |
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HPO |
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MIM:618223 |
NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466
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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
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ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:521 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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BCR |
BCR activator of RhoGEF and GTPase |
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IAGP |
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HPO |
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ORPHA:521 |
NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
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RUNX1 |
RUNX family transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:521 |
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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CIITA |
class II major histocompatibility complex transactivator |
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IAGP |
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HPO |
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ORPHA:572 |
NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
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PGM3 |
phosphoglucomutase 3 |
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IAGP |
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HPO |
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ORPHA:443811 |
NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936
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RASGRP1 |
RAS guanyl releasing protein 1 |
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IAGP |
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HPO |
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MIM:618534 |
NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
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RFX5 |
regulatory factor X5 |
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IAGP |
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HPO |
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ORPHA:572 |
NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326
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RFXANK |
regulatory factor X associated ankyrin containing protein |
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IAGP |
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HPO |
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ORPHA:572 |
NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869
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RFXAP |
regulatory factor X associated protein |
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IAGP |
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HPO |
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ORPHA:572 |
NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104
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WDR1 |
WD repeat domain 1 |
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IAGP |
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HPO |
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MIM:150550 |
NCBI chr 4:10,074,339...10,116,799
Ensembl chr 4:10,068,089...10,116,972
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ANKRD27 |
ankyrin repeat domain 27 |
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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
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CAPN14 |
calpain 14 |
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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
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GPR35 |
G protein-coupled receptor 35 |
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IAGP |
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HPO |
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ORPHA:171 |
NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159
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MST1 |
macrophage stimulating 1 |
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IAGP |
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HPO |
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ORPHA:171 |
NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501
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SEMA4D |
semaphorin 4D |
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IAGP |
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HPO |
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ORPHA:171 |
NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130
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TCF4 |
transcription factor 4 |
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IAGP |
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HPO |
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ORPHA:171 |
NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
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TLR2 |
toll like receptor 2 |
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IAGP |
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RGD |
PMID:19763595 |
RGD:4145354 |
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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WIPF1 |
WAS/WASL interacting protein family member 1 |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
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ABHD5 |
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
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IAGP |
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HPO |
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ORPHA:98907 |
NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371
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ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:521 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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BCR |
BCR activator of RhoGEF and GTPase |
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IAGP |
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HPO |
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ORPHA:521 |
NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
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NLRP3 |
NLR family pyrin domain containing 3 |
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IAGP |
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HPO |
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ORPHA:1451 |
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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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
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RUNX1 |
RUNX family transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:521 |
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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BCL11A |
BCL11 transcription factor A |
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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
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CALR |
calreticulin |
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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
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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
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DNMT3A |
DNA methyltransferase 3 alpha |
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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
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EPB42 |
erythrocyte membrane protein band 4.2 |
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IAGP |
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HPO |
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MIM:612690 |
NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
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HP |
haptoglobin |
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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
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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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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
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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
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NRAS |
NRAS proto-oncogene, GTPase |
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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
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RUNX1 |
RUNX family transcription factor 1 |
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IAGP |
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RGD |
PMID:21828118 |
RGD:11251708 |
NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667
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ACD |
ACD shelterin complex subunit and telomerase recruitment factor |
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IAGP |
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HPO |
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ORPHA:3322 |
NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810
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CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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ORPHA:53 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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DKC1 |
dyskerin pseudouridine synthase 1 |
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IAGP |
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HPO |
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ORPHA:3322 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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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 PMID:21983886 More...
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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
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ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
DNA:haplotype |
RGD |
PMID:21987080 |
RGD:11340201 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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ORPHA:1426 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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LYST |
lysosomal trafficking regulator |
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IAGP |
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HPO |
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ORPHA:167 |
NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
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PARN |
poly(A)-specific ribonuclease |
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IAGP |
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HPO |
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ORPHA:3322 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
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HPO |
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ORPHA:3322 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:3322 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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ORPHA:3322 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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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
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CD3E |
CD3 epsilon subunit of T-cell receptor complex |
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IAGP |
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HPO |
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MIM:615615 |
NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
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DKC1 |
dyskerin pseudouridine synthase 1 |
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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
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MALT1 |
MALT1 paracaspase |
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IAGP |
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HPO |
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MIM:615468 |
NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477
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NOS3 |
nitric oxide synthase 3 |
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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
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SP110 |
SP110 nuclear body protein |
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IAGP |
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HPO |
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ORPHA:79124 |
NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729
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STIM1 |
stromal interaction molecule 1 |
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IAGP |
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HPO |
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MIM:612783 |
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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ADA |
adenosine deaminase |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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CD28 |
CD28 molecule |
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IAGP |
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HPO |
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ORPHA:2584 ORPHA:3162 |
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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IAGP |
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HPO |
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ORPHA:2584 ORPHA:3162 |
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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DCLRE1C |
DNA cross-link repair 1C |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
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IL17RA |
interleukin 17 receptor A |
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IAGP |
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HPO |
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MIM:613953 |
NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
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IL2RG |
interleukin 2 receptor subunit gamma |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108
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IL7R |
interleukin 7 receptor |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
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LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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NFKB2 |
nuclear factor kappa B subunit 2 |
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IAGP |
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HPO |
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ORPHA:293978 |
NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
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RAG1 |
recombination activating 1 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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RAG2 |
recombination activating 2 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
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RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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TNFRSF13B |
TNF receptor superfamily member 13B |
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IAGP |
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HPO |
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MIM:609529 |
NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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TNFRSF1B |
TNF receptor superfamily member 1B |
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IAGP |
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HPO |
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ORPHA:2584 ORPHA:3162 |
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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SAMD9L |
sterile alpha motif domain containing 9 like |
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IAGP |
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HPO |
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ORPHA:2585 |
NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
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SGCG |
sarcoglycan gamma |
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IAGP |
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HPO |
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ORPHA:353 |
NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
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ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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ORPHA:98849 ORPHA:98850 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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CBL |
Cbl proto-oncogene |
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IAGP |
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HPO |
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ORPHA:98850 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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CYP26C1 |
cytochrome P450 family 26 subfamily C member 1 |
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IAGP |
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HPO |
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ORPHA:398189 |
NCBI chr10:93,060,798...93,069,540
Ensembl chr10:93,060,798...93,069,540
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KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:98849 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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RUNX1 |
RUNX family transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:98850 |
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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SRSF2 |
serine and arginine rich splicing factor 2 |
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IAGP |
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HPO |
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ORPHA:98849 ORPHA:98850 |
NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
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TET2 |
tet methylcytosine dioxygenase 2 |
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IAGP |
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HPO |
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ORPHA:98849 ORPHA:98850 |
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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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
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SLC37A4 |
solute carrier family 37 member 4 |
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IAGP |
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HPO |
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ORPHA:79259 |
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
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CARD9 |
caspase recruitment domain family member 9 |
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IAGP |
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HPO |
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MIM:212050 |
NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
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CBLB |
Cbl proto-oncogene B |
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IAGP |
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HPO |
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MIM:620430 |
NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
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IL2RG |
interleukin 2 receptor subunit gamma |
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IAGP |
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HPO |
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MIM:312863 |
NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108
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IRAK4 |
interleukin 1 receptor associated kinase 4 |
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IAGP |
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HPO |
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MIM:607676 |
NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
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LAT |
linker for activation of T cells |
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IAGP |
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HPO |
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MIM:617514 |
NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784
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MYD88 |
MYD88 innate immune signal transduction adaptor |
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IAGP |
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HPO |
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MIM:612260 |
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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ORAI1 |
ORAI calcium release-activated calcium modulator 1 |
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IAGP |
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HPO |
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MIM:612782 |
NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218
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RAG1 |
recombination activating 1 |
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IAGP |
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HPO |
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ORPHA:331206 |
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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RAG2 |
recombination activating 2 |
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IAGP |
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HPO |
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ORPHA:331206 |
NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
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SP110 |
SP110 nuclear body protein |
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IAGP |
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HPO |
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ORPHA:79124 |
NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729
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CD3D |
CD3 delta subunit of T-cell receptor complex |
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IAGP |
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HPO |
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MIM:615617 |
NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,334,537...118,342,705
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LYST |
lysosomal trafficking regulator |
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IAGP |
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HPO |
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ORPHA:167 |
NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
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PRKDC |
protein kinase, DNA-activated, catalytic subunit |
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IAGP |
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HPO |
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MIM:615966 |
NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
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CEBPE |
CCAAT enhancer binding protein epsilon |
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IAGP |
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HPO |
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MIM:245480 |
NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256
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G |
DKC1 |
dyskerin pseudouridine synthase 1 |
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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
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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
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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
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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
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GATA2 |
GATA binding protein 2 |
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IAGP |
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HPO |
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ORPHA:228423 |
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
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CXCR4 |
C-X-C motif chemokine receptor 4 |
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IAGP |
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HPO |
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ORPHA:51636 |
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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G |
RPS14 |
ribosomal protein S14 |
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IAGP |
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HPO |
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ORPHA:86841 |
NCBI chr 5:150,442,635...150,449,739
Ensembl chr 5:150,442,635...150,449,739
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CARD9 |
caspase recruitment domain family member 9 |
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IAGP |
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HPO |
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MIM:212050 |
NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
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G |
CASP10 |
caspase 10 |
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IAGP |
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HPO |
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ORPHA:3261 |
NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
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FAS |
Fas cell surface death receptor |
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IAGP |
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HPO |
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ORPHA:3261 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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G |
FASLG |
Fas ligand |
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IAGP |
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HPO |
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ORPHA:3261 |
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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G |
HLA-DPB1 |
major histocompatibility complex, class II, DP beta 1 |
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IAGP |
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HPO |
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ORPHA:133 |
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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BLM |
BLM RecQ like helicase |
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IAGP |
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HPO |
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ORPHA:125 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
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G |
CARD9 |
caspase recruitment domain family member 9 |
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IAGP |
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HPO |
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MIM:212050 |
NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
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G |
CASP10 |
caspase 10 |
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IAGP |
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HPO |
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ORPHA:3261 |
NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
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G |
FAS |
Fas cell surface death receptor |
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IAGP |
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HPO |
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ORPHA:3261 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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G |
FASLG |
Fas ligand |
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IAGP |
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HPO |
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ORPHA:3261 |
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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G |
PGM3 |
phosphoglucomutase 3 |
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IAGP |
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HPO |
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ORPHA:443811 |
NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936
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G |
SMARCAL1 |
SNF2 related chromatin remodeling annealing helicase 1 |
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IAGP |
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HPO |
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ORPHA:1830 |
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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G |
BTK |
Bruton tyrosine kinase |
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IAGP |
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HPO |
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MIM:307200 |
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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G |
CBLB |
Cbl proto-oncogene B |
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IAGP |
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HPO |
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MIM:620430 |
NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
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G |
CD19 |
CD19 molecule |
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IAGP |
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HPO |
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MIM:240500 MIM:613493 |
NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
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G |
CD3D |
CD3 delta subunit of T-cell receptor complex |
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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
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G |
CD81 |
CD81 molecule |
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IAGP |
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HPO |
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MIM:613496 |
NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
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G |
CR2 |
complement C3d receptor 2 |
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IAGP |
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HPO |
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MIM:240500 |
NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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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
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G |
DCLRE1C |
DNA cross-link repair 1C |
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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
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G |
ICOS |
inducible T cell costimulator |
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IAGP |
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HPO |
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MIM:240500 MIM:607594 |
NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
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G |
IL21 |
interleukin 21 |
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IAGP |
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HPO |
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MIM:615767 |
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
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G |
IL2RG |
interleukin 2 receptor subunit gamma |
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IAGP |
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HPO |
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MIM:312863 |
NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108
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G |
IRAK4 |
interleukin 1 receptor associated kinase 4 |
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IAGP |
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HPO |
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MIM:607676 |
NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
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G |
MS4A1 |
membrane spanning 4-domains A1 |
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IAGP |
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HPO |
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MIM:613495 |
NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
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G |
RAG1 |
recombination activating 1 |
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IAGP |
|
HPO |
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ORPHA:331206 |
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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G |
RAG2 |
recombination activating 2 |
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IAGP |
|
HPO |
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ORPHA:331206 |
NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
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G |
SH2D1A |
SH2 domain containing 1A |
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IAGP |
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HPO |
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MIM:308240 |
NCBI chr X:124,346,563...124,373,160
Ensembl chr X:124,227,868...124,373,197
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G |
TNFRSF13B |
TNF receptor superfamily member 13B |
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IAGP |
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HPO |
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MIM:240500 |
NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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TNFRSF13C |
TNF receptor superfamily member 13C |
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IAGP |
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HPO |
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MIM:240500 MIM:613494 |
NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
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XIAP |
X-linked inhibitor of apoptosis |
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IAGP |
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HPO |
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MIM:308240 |
NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972
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BLNK |
B cell linker |
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IAGP |
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HPO |
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MIM:613502 |
NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587
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CD28 |
CD28 molecule |
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IAGP |
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HPO |
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ORPHA:3162 |
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
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CD4 |
CD4 molecule |
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IAGP |
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HPO |
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MIM:613949 |
NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799
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CD79A |
CD79a molecule |
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IAGP |
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HPO |
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MIM:613501 |
NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
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CD79B |
CD79b molecule |
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IAGP |
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HPO |
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MIM:612692 |
NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
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CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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IAGP |
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HPO |
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ORPHA:3162 |
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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IGLL1 |
immunoglobulin lambda like polypeptide 1 |
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IAGP |
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HPO |
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MIM:613500 |
NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
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PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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MIM:615214 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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PNP |
purine nucleoside phosphorylase |
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IAGP |
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HPO |
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ORPHA:760 |
NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094
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SMARCAL1 |
SNF2 related chromatin remodeling annealing helicase 1 |
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IAGP |
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HPO |
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MIM:242900 |
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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TNFRSF1B |
TNF receptor superfamily member 1B |
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IAGP |
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HPO |
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ORPHA:3162 |
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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KNSTRN |
kinetochore localized astrin (SPAG5) binding protein |
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IAGP |
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HPO |
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ORPHA:221139 |
NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
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PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
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IAGP |
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HPO |
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ORPHA:221139 |
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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LYST |
lysosomal trafficking regulator |
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IAGP |
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HPO |
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ORPHA:167 |
NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
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RAC2 |
Rac family small GTPase 2 |
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IAGP |
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HPO |
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ORPHA:183707 |
NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
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AK2 |
adenylate kinase 2 |
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IAGP |
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HPO |
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ORPHA:33355 |
NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996
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CDCA7 |
cell division cycle associated 7 |
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IAGP |
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HPO |
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ORPHA:2268 |
NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997
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CTC1 |
CST telomere replication complex component 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
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CYBA |
cytochrome b-245 alpha chain |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
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CYBB |
cytochrome b-245 beta chain |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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CYBC1 |
cytochrome b-245 chaperone 1 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
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DKC1 |
dyskerin pseudouridine synthase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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DNMT3B |
DNA methyltransferase 3 beta |
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IAGP |
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HPO |
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ORPHA:2268 |
NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
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HELLS |
helicase, lymphoid specific |
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IAGP |
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HPO |
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ORPHA:2268 |
NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905
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HLA-B |
major histocompatibility complex, class I, B |
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IAGP |
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HPO |
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ORPHA:36426 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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IKZF1 |
IKAROS family zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:36426 |
NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:169400 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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ORPHA:235 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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MYD88 |
MYD88 innate immune signal transduction adaptor |
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IAGP |
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HPO |
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ORPHA:33226 |
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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G |
NCF2 |
neutrophil cytosolic factor 2 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
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NCF4 |
neutrophil cytosolic factor 4 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017
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NHP2 |
NHP2 ribonucleoprotein |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
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G |
NLRP3 |
NLR family pyrin domain containing 3 |
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IAGP |
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HPO |
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ORPHA:1451 |
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NOP10 |
NOP10 ribonucleoprotein |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
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G |
NPM1 |
nucleophosmin 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
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G |
NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:235 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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G |
PARN |
poly(A)-specific ribonuclease |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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G |
RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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G |
SAMD9L |
sterile alpha motif domain containing 9 like |
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IAGP |
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HPO |
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ORPHA:2585 |
NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
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G |
TAFAZZIN |
tafazzin, phospholipid-lysophospholipid transacylase |
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IAGP |
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HPO |
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ORPHA:111 |
NCBI chr X:154,411,539...154,421,726
Ensembl chr X:154,411,524...154,421,726
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G |
TERC |
telomerase RNA component |
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IAGP |
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HPO |
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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
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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G |
TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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G |
TYMS |
thymidylate synthetase |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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UHRF1 |
ubiquitin like with PHD and ring finger domains 1 |
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IAGP |
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HPO |
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ORPHA:2268 |
NCBI chr19:4,903,080...4,962,154
Ensembl chr19:4,903,080...4,962,154
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USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
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G |
WRAP53 |
WD repeat containing antisense to TP53 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
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G |
ZBTB24 |
zinc finger and BTB domain containing 24 |
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IAGP |
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HPO |
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ORPHA:2268 |
NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239
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BCL11B |
BCL11 transcription factor B |
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IAGP |
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HPO |
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MIM:617237 MIM:618092 |
NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197
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G |
DCLRE1C |
DNA cross-link repair 1C |
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IAGP |
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HPO |
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MIM:602450 |
NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
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G |
EXTL3 |
exostosin like glycosyltransferase 3 |
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IAGP |
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HPO |
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MIM:617425 |
NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
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G |
FOXN1 |
forkhead box N1 |
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IAGP |
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HPO |
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MIM:618806 |
NCBI chr17:28,506,348...28,538,900
Ensembl chr17:28,506,243...28,538,900
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G |
IL2RG |
interleukin 2 receptor subunit gamma |
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IAGP |
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HPO |
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ORPHA:276 |
NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108
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LCP2 |
lymphocyte cytosolic protein 2 |
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IAGP |
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HPO |
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MIM:619374 |
NCBI chr 5:170,246,233...170,297,777
Ensembl chr 5:170,246,233...170,297,815
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G |
PSMB10 |
proteasome 20S subunit beta 10 |
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IAGP |
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HPO |
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MIM:620807 |
NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864
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G |
PSMB9 |
proteasome 20S subunit beta 9 |
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IAGP |
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HPO |
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MIM:620796 |
NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734
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G |
RAC2 |
Rac family small GTPase 2 |
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IAGP |
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HPO |
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MIM:608203 MIM:618986 MIM:618987 |
NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
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G |
RPA1 |
replication protein A1 |
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IAGP |
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HPO |
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MIM:619767 |
NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082
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G |
STN1 |
STN1 subunit of CST complex |
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IAGP |
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HPO |
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MIM:617341 |
NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
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CD8A |
CD8 subunit alpha |
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IAGP |
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HPO |
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MIM:608957 |
NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
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G |
ZAP70 |
zeta chain of T cell receptor associated protein kinase 70 |
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IAGP |
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HPO |
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MIM:269840 ORPHA:911 |
NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,744,327
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BTK |
Bruton tyrosine kinase |
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IAGP |
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HPO |
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MIM:307200 |
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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G |
CD79A |
CD79a molecule |
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IAGP |
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HPO |
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MIM:613501 |
NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
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G |
FNIP1 |
folliculin interacting protein 1 |
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IAGP |
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HPO |
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MIM:619705 |
NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017
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G |
IGLL1 |
immunoglobulin lambda like polypeptide 1 |
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IAGP |
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HPO |
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MIM:613500 |
NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
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G |
SLC39A7 |
solute carrier family 39 member 7 |
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IAGP |
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HPO |
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MIM:619693 |
NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439
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G |
SPI1 |
Spi-1 proto-oncogene |
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IAGP |
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HPO |
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MIM:619707 |
NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369
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G |
TNFRSF9 |
TNF receptor superfamily member 9 |
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IAGP |
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HPO |
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MIM:620282 |
NCBI chr 1:7,915,871...7,940,839
Ensembl chr 1:7,915,871...7,943,165
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WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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MIM:301000 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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G |
GINS1 |
GINS complex subunit 1 |
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IAGP |
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HPO |
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MIM:617827 |
NCBI chr20:25,407,673...25,448,563
Ensembl chr20:25,391,008...25,452,700
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G |
JAK3 |
Janus kinase 3 |
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IAGP |
|
HPO |
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MIM:600802 ORPHA:35078 |
NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
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G |
CEBPE |
CCAAT enhancer binding protein epsilon |
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IAGP |
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HPO |
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MIM:245480 |
NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256
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G |
CEBPE |
CCAAT enhancer binding protein epsilon |
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IAGP |
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HPO |
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MIM:245480 |
NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256
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G |
SMARCD2 |
SWI/SNF related BAF chromatin remodeling complex subunit D2 |
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IAGP |
|
HPO |
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MIM:617475 |
NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065
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G |
ATRX |
ATRX chromatin remodeler |
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IAGP |
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HPO |
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ORPHA:231401 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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G |
CALR |
calreticulin |
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IAGP |
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HPO |
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ORPHA:3318 |
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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G |
DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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G |
EVC |
EvC ciliary complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
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G |
EVC2 |
EvC ciliary complex subunit 2 |
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IAGP |
|
HPO |
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ORPHA:289 |
NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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G |
GATA2 |
GATA binding protein 2 |
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IAGP |
|
HPO |
|
ORPHA:228423 |
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
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G |
GLI1 |
GLI family zinc finger 1 |
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IAGP |
|
HPO |
|
ORPHA:289 |
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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G |
JAK2 |
Janus kinase 2 |
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IAGP |
|
HPO |
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ORPHA:3318 ORPHA:729 |
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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G |
LIG4 |
DNA ligase 4 |
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IAGP |
|
HPO |
|
ORPHA:99812 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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G |
MPL |
MPL proto-oncogene, thrombopoietin receptor |
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IAGP |
|
HPO |
|
ORPHA:3318 |
NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
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G |
NBN |
nibrin |
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IAGP |
|
HPO |
|
ORPHA:647 |
NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
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G |
PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
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ORPHA:3474 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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G |
PRKACA |
protein kinase cAMP-activated catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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G |
PRKACB |
protein kinase cAMP-activated catalytic subunit beta |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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G |
SH2B3 |
SH2B adaptor protein 3 |
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IAGP |
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HPO |
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ORPHA:3318 |
NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
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G |
STS |
steroid sulfatase |
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IAGP |
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HPO |
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ORPHA:281090 |
NCBI chr X:7,147,290...7,354,641
Ensembl chr X:7,147,237...7,804,358
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G |
TET2 |
tet methylcytosine dioxygenase 2 |
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IAGP |
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HPO |
|
ORPHA:3318 |
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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G |
TP53 |
tumor protein p53 |
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IAGP |
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HPO |
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MIM:151623 ORPHA:3318 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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G |
TREM2 |
triggering receptor expressed on myeloid cells 2 |
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IAGP |
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HPO |
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ORPHA:2770 |
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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G |
TYROBP |
transmembrane immune signaling adaptor TYROBP |
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IAGP |
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HPO |
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ORPHA:2770 |
NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
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G |
WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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G |
WIPF1 |
WAS/WASL interacting protein family member 1 |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
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G |
XRCC4 |
X-ray repair cross complementing 4 |
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IAGP |
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HPO |
|
ORPHA:99812 |
NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787
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G |
APC2 |
APC regulator of WNT signaling pathway 2 |
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IAGP |
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HPO |
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ORPHA:821 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
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G |
ATM |
ATM serine/threonine kinase |
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IAGP |
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HPO |
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MIM:208900 |
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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G |
BAX |
BCL2 associated X, apoptosis regulator |
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IAGP |
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HPO |
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MIM:613065 |
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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G |
BCR |
BCR activator of RhoGEF and GTPase |
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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
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G |
BLM |
BLM RecQ like helicase |
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IAGP |
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HPO |
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ORPHA:125 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
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G |
BUB1 |
BUB1 mitotic checkpoint serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:1052 |
NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
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G |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
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IAGP |
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HPO |
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ORPHA:1052 |
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
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G |
BUB3 |
BUB3 mitotic checkpoint protein |
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IAGP |
|
HPO |
|
ORPHA:1052 |
NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
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IAGP |
ClinVar Annotator: match by term: Acute lymphocytic leukemia |
HPO ClinVar |
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 PMID:9166859 PMID:9389568 PMID:9823374 PMID:10389768 PMID:10667595 PMID:10719365 PMID:11518711 PMID:11687599 PMID:15075790 PMID:16234564 PMID:16818274 PMID:16896043 PMID:17218939 PMID:18335566 PMID:18519632 PMID:21085193 PMID:21462282 PMID:22440936 PMID:24733792 PMID:25078331 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26670561 PMID:26681309 PMID:27756164 PMID:27960642 PMID:27993330 PMID:28454591 PMID:28492532 PMID:28640387 PMID:28765326 PMID:28830827 PMID:30207590 PMID:30339520 PMID:31921681 PMID:32191290 PMID:33823155 PMID:35001868 More...
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ORPHA:524 |
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar |
PMID:27993330 |
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NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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G |
CDKN2B-AS1 |
CDKN2B antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar |
PMID:27993330 |
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NCBI chr 9:21,994,791...22,128,142
Ensembl chr 9:21,994,139...22,212,895
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G |
CEP57 |
centrosomal protein 57 |
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IAGP |
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HPO |
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ORPHA:1052 |
NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
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G |
CHEK2 |
checkpoint kinase 2 |
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IAGP |
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HPO |
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ORPHA:524 |
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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G |
CLPB |
ClpB family mitochondrial disaggregase |
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IAGP |
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HPO |
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ORPHA:486 |
NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
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G |
ELANE |
elastase, neutrophil expressed |
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IAGP |
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HPO |
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ORPHA:486 |
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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G |
ERG |
ETS transcription factor ERG |
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IAGP |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar |
PMID:27993330 |
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NCBI chr21:38,367,261...38,661,783
Ensembl chr21:38,380,027...38,661,780
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G |
ETV6 |
ETS variant transcription factor 6 |
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IAGP |
ClinVar Annotator: match by term: Acute lymphoblastic leukemia |
ClinVar |
PMID:26102509 |
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NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
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G |
FLT3 |
fms related receptor tyrosine kinase 3 |
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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
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G |
GFI1 |
growth factor independent 1 transcriptional repressor |
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IAGP |
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HPO |
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ORPHA:486 |
NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
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G |
GNB1 |
G protein subunit beta 1 |
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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 PMID:27108799 PMID:27513193 PMID:28087732 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32901917 PMID:32918542 PMID:32963807 More...
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MIM:613065 |
NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292
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G |
HAX1 |
HCLS1 associated protein X-1 |
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IAGP |
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HPO |
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MIM:610738 |
NCBI chr 1:154,272,629...154,275,875
Ensembl chr 1:154,272,355...154,275,875
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G |
IKZF1 |
IKAROS family zinc finger 1 |
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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
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G |
LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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MIM:606593 ORPHA:235 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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G |
LOC105376032 |
uncharacterized LOC105376032 |
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IAGP |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar |
PMID:25741868 PMID:27993330 |
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NCBI chr 9:37,002,193...37,009,052
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G |
LOC126860438 |
MED14-independent group 3 enhancer GRCh37_chr8:90959982-90961181 |
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IAGP |
ClinVar Annotator: match by term: Acute lymphocytic leukemia |
ClinVar |
PMID:9590180 PMID:16415040 PMID:23555315 PMID:24763289 PMID:25186627 PMID:25318351 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:28492532 PMID:28727877 PMID:29506128 PMID:30322717 PMID:33471991 More...
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NCBI chr 8:89,947,754...89,948,953
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G |
LOC126861452 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394 |
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IAGP |
ClinVar Annotator: match by term: Acute lymphoblastic leukemia |
ClinVar |
PMID:26102509 |
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NCBI chr12:11,884,261...11,885,460
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G |
LOC130001608 |
ATAC-STARR-seq lymphoblastoid silent region 19815 |
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IAGP |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar |
PMID:27993330 |
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NCBI chr 9:22,008,647...22,008,846
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G |
LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
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HPO |
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MIM:605275 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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G |
MDM2 |
MDM2 proto-oncogene |
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IAGP |
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HPO |
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ORPHA:524 |
NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
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G |
NBN |
nibrin |
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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 PMID:12427538 PMID:14559852 PMID:15338273 PMID:15474156 PMID:16415040 PMID:16474176 PMID:16770759 PMID:16810201 PMID:17001621 PMID:17496786 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18023021 PMID:18049891 PMID:18280732 PMID:18606567 PMID:18612309 PMID:18638378 PMID:19393249 PMID:19452044 PMID:19523210 PMID:19584272 PMID:19804756 PMID:19813148 PMID:19908051 PMID:20805886 PMID:21212067 PMID:21302341 PMID:21698754 PMID:22131123 PMID:22373003 PMID:22491912 PMID:22841127 PMID:22864661 PMID:22995991 PMID:23317186 PMID:23525077 PMID:23555315 PMID:24033266 PMID:24093751 PMID:24113799 PMID:24349281 PMID:24396275 PMID:24549055 PMID:24728327 PMID:24763289 PMID:24830725 PMID:24894818 PMID:25117502 PMID:25186627 PMID:25318351 PMID:25503501 PMID:25619955 PMID:25677497 PMID:25712764 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26315354 PMID:26467025 PMID:26534844 PMID:26564480 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26722329 PMID:26787654 PMID:26898890 PMID:26934577 PMID:26979391 PMID:27153395 PMID:27443514 PMID:27616075 PMID:27621404 PMID:27978560 PMID:28076423 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28261280 PMID:28374160 PMID:28376765 PMID:28492532 PMID:28528518 PMID:28591191 PMID:28726808 PMID:28727877 PMID:28796236 PMID:28873162 PMID:28888541 PMID:29093764 PMID:29300386 PMID:29335925 PMID:29371908 PMID:29470806 PMID:29506128 PMID:29522266 PMID:29596542 PMID:29615459 PMID:29659569 PMID:29678143 PMID:29758565 PMID:29785153 PMID:30256826 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30374176 PMID:30441849 PMID:30541756 PMID:30590007 PMID:30613976 PMID:30651582 PMID:30982232 PMID:31159747 PMID:31206626 PMID:31278556 PMID:31415627 PMID:31666926 PMID:31780696 PMID:31874108 PMID:31911633 PMID:32068069 PMID:32427313 PMID:32566746 PMID:32668560 PMID:32832836 PMID:32885271 PMID:32936981 PMID:32980694 PMID:33095795 PMID:33309985 PMID:33471991 PMID:33652732 PMID:33800431 PMID:33840814 PMID:34072463 PMID:34251444 PMID:34284872 PMID:34326862 PMID:34646395 PMID:34964003 PMID:35245693 PMID:35264596 PMID:35534704 PMID:35654374 PMID:35739269 PMID:36155879 PMID:36346689 PMID:36988593 More...
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MIM:613065 |
NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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ORPHA:821 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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G |
NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:235 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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G |
NUP214 |
nucleoporin 214 |
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IAGP |
|
HPO |
|
MIM:613065 |
NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663
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G |
PAX5 |
paired box 5 |
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IAGP |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar |
PMID:25741868 PMID:27993330 PMID:30643249 |
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NCBI chr 9:36,833,269...37,034,268
Ensembl chr 9:36,833,269...37,034,268
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G |
PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
|
HPO |
|
MIM:280000 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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G |
SRP19 |
signal recognition particle 19 |
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IAGP |
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HPO |
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ORPHA:486 |
NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371
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G |
TAL1 |
TAL bHLH transcription factor 1, erythroid differentiation factor |
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IAGP |
|
HPO |
|
MIM:613065 |
NCBI chr 1:47,216,290...47,232,335
Ensembl chr 1:47,216,290...47,232,225
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G |
TAL2 |
TAL bHLH transcription factor 2 |
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IAGP |
|
HPO |
|
MIM:613065 |
NCBI chr 9:105,662,457...105,663,124
Ensembl chr 9:105,662,457...105,663,124
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G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
|
HPO |
|
ORPHA:486 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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G |
TP53 |
tumor protein p53 |
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IAGP |
|
HPO |
|
ORPHA:524 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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G |
TRIP13 |
thyroid hormone receptor interactor 13 |
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IAGP |
|
HPO |
|
ORPHA:1052 |
NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
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G |
CORO7 |
coronin 7 |
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IAGP |
ClinVar Annotator: match by term: Acute megakaryocytic leukemia |
ClinVar |
|
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NCBI chr16:4,354,542...4,416,596
Ensembl chr16:4,354,542...4,425,705
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G |
CORO7-PAM16 |
CORO7-PAM16 readthrough |
|
IAGP |
ClinVar Annotator: match by term: Acute megakaryocytic leukemia |
ClinVar |
|
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NCBI chr16:4,340,251...4,416,596
Ensembl chr16:4,340,251...4,420,494
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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 PMID:28492532 More...
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NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311
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G |
JAK3 |
Janus kinase 3 |
|
IAGP |
ClinVar Annotator: match by term: Acute megakaryocytic leukemia |
ClinVar |
|
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NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
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G |
MDGA1 |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
|
IAGP |
ClinVar Annotator: match by term: Acute megakaryocytic leukemia |
ClinVar |
|
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NCBI chr 6:37,630,679...37,697,883
Ensembl chr 6:37,630,679...37,699,306
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G |
MT-ND6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
IAGP |
ClinVar Annotator: match by term: Acute megakaryocytic leukemia |
ClinVar |
|
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NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
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G |
PCF11 |
PCF11 cleavage and polyadenylation factor subunit |
|
IAGP |
ClinVar Annotator: match by term: Acute megakaryocytic leukemia |
ClinVar |
|
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NCBI chr11:83,157,131...83,187,451
Ensembl chr11:83,156,988...83,187,451
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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 PMID:20600018 PMID:21194675 PMID:21343951 PMID:21659347 PMID:22281088 PMID:22520842 PMID:23335809 PMID:23475934 PMID:23886400 PMID:24778394 PMID:25669429 PMID:25741868 PMID:26376867 PMID:28492532 PMID:29663862 PMID:35227301 More...
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NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
RASAL3 |
RAS protein activator like 3 |
|
IAGP |
ClinVar Annotator: match by term: Acute megakaryocytic leukemia |
ClinVar |
|
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NCBI chr19:15,451,624...15,464,544
Ensembl chr19:15,451,624...15,464,544
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G |
SLC9A2 |
solute carrier family 9 member A2 |
|
IAGP |
ClinVar Annotator: match by term: Acute megakaryocytic leukemia |
ClinVar |
|
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NCBI chr 2:102,619,553...102,711,355
Ensembl chr 2:102,619,553...102,711,355
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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 |
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NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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G |
ELANE |
elastase, neutrophil expressed |
|
IAGP |
|
HPO |
|
MIM:202700 |
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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G |
NF1 |
neurofibromin 1 |
|
IAGP |
ClinVar Annotator: match by term: Acute monoblastic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29290338 PMID:33471991 |
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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RUNX1 |
RUNX family transcription factor 1 |
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IAGP |
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HPO |
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MIM:601399 |
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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SPRED1 |
sprouty related EVH1 domain containing 1 |
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IAGP |
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HPO |
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ORPHA:137605 |
NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
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ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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ADH5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
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IAGP |
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HPO |
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MIM:619151 |
NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801
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ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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ORPHA:98849 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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G |
ATG2B |
autophagy related 2B |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:96,279,195...96,363,341
Ensembl chr14:96,279,195...96,363,341
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BDKRB1 |
bradykinin receptor B1 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
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BDKRB2 |
bradykinin receptor B2 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
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BLM |
BLM RecQ like helicase |
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IAGP |
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HPO |
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ORPHA:125 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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MIM:605724 MIM:613029 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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C14orf132 |
chromosome 14 open reading frame 132 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:96,039,362...96,093,971
Ensembl chr14:96,039,362...96,093,971
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CBFB |
core-binding factor subunit beta |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:25741868 PMID:36241386 |
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NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058
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CDKN2A |
cyclin dependent kinase inhibitor 2A |
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IAGP |
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HPO |
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ORPHA:524 |
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CEBPA |
CCAAT enhancer binding protein alpha |
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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 PMID:15902292 PMID:18768433 PMID:18946494 PMID:19706798 PMID:19731081 PMID:19953636 PMID:21177436 PMID:23716546 PMID:23926458 PMID:24220272 PMID:24728327 PMID:25741868 PMID:26162409 PMID:26721895 PMID:27005833 PMID:27993330 PMID:28250006 PMID:28492532 PMID:29296967 PMID:31867767 PMID:32430494 PMID:33179473 PMID:33345654 PMID:36879149 More...
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MIM:601626 |
NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
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CHEK2 |
checkpoint kinase 2 |
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IAGP |
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HPO |
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ORPHA:524 |
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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CHIC2 |
cysteine rich hydrophobic domain 2 |
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IAGP |
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HPO |
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MIM:601626 |
NCBI chr 4:54,009,789...54,091,879
Ensembl chr 4:53,994,803...54,064,605
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CLPB |
ClpB family mitochondrial disaggregase |
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IAGP |
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HPO |
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ORPHA:486 |
NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
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DDX41 |
DEAD-box helicase 41 |
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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 PMID:28547672 PMID:30963592 PMID:31400013 PMID:33585199 More...
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MIM:616871 |
NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961
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DKC1 |
dyskerin pseudouridine synthase 1 |
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IAGP |
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HPO |
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MIM:305000 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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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
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DNMT3A |
DNA methyltransferase 3 alpha |
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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 PMID:25650308 PMID:25693834 PMID:25741868 PMID:26822784 PMID:26876596 PMID:27317772 PMID:27701732 PMID:27991732 PMID:28252636 PMID:28432085 PMID:28492532 PMID:28941052 PMID:29900417 PMID:30185810 PMID:30478443 PMID:31582562 PMID:31620784 PMID:31640986 PMID:31961069 PMID:32123902 PMID:32385248 PMID:32581362 PMID:34480172 PMID:34632574 PMID:34788385 PMID:36641501 More...
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MIM:601626 |
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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EFL1 |
elongation factor like GTPase 1 |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
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ELANE |
elastase, neutrophil expressed |
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IAGP |
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HPO |
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ORPHA:486 |
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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ERBB3 |
erb-b2 receptor tyrosine kinase 3 |
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IAGP |
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HPO |
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MIM:133180 |
NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
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ETV6 |
ETS variant transcription factor 6 |
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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 PMID:28492532 PMID:31248877 PMID:31704777 PMID:33226740 PMID:33768492 More...
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MIM:601626 |
NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
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FANCD2 |
FA complementation group D2 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:17436244 PMID:23613520 PMID:25741868 PMID:28492532 |
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NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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FLT3 |
fms related receptor tyrosine kinase 3 |
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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
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GATA1 |
GATA binding protein 1 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311
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GATA2 |
GATA binding protein 2 |
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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 PMID:24227816 PMID:24266605 PMID:24345756 PMID:24728327 PMID:25741868 PMID:25879889 PMID:26702063 PMID:26812071 PMID:27418648 PMID:28492532 PMID:29906362 PMID:31340620 PMID:31958074 PMID:32135276 More...
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MIM:601626 MIM:614038 |
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
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GFI1 |
growth factor independent 1 transcriptional repressor |
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IAGP |
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HPO |
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MIM:607847 ORPHA:486 |
NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
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GPATCH1 |
G-patch domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,081,181...33,130,542
Ensembl chr19:33,080,899...33,130,542
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GSKIP |
GSK3B interacting protein |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:96,363,526...96,387,290
Ensembl chr14:96,363,452...96,387,288
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HEATR3 |
HEAT repeat containing 3 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272
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HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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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 |
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NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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INSL6 |
insulin like 6 |
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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 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 9:4,991,976...5,185,639
Ensembl chr 9:5,123,880...5,185,647
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JAK1 |
Janus kinase 1 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754
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JAK2 |
Janus kinase 2 |
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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 PMID:16247455 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16762626 PMID:17989398 PMID:18256599 PMID:19036091 PMID:19074595 PMID:19293426 PMID:20703299 PMID:22397670 PMID:23535062 PMID:24728327 PMID:25043017 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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MIM:601626 ORPHA:71493 |
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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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 PMID:25741868 PMID:28492532 PMID:28724667 PMID:31350202 More...
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MIM:601626 ORPHA:98849 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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G |
KLK2 |
kallikrein related peptidase 2 |
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IAGP |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 PMID:37593117 |
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NCBI chr19:50,873,439...50,880,567
Ensembl chr19:50,861,568...50,880,567
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KRAS |
KRAS proto-oncogene, GTPase |
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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 PMID:12110640 PMID:12720172 PMID:14645534 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17875939 PMID:17910045 PMID:18456719 PMID:18628094 PMID:19047918 PMID:19358724 PMID:20652921 PMID:20805368 PMID:20949522 PMID:20949621 PMID:21062266 PMID:21079152 PMID:21871821 PMID:22495831 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23255105 PMID:24033266 PMID:24703799 PMID:24803665 PMID:25326637 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:28492532 PMID:28583095 PMID:29298116 PMID:29948256 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31117243 PMID:31891627 PMID:34114335 PMID:35794233 More...
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MIM:601626 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
LOC100507346 |
uncharacterized LOC100507346 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32321774 |
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NCBI chr 9:95,463,609...95,470,019
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G |
LOC107303338 |
3p25 FANCD2 Alu-mediated recombination region |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:17436244 PMID:23613520 PMID:25741868 PMID:28492532 |
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NCBI chr 3:10,030,947...10,078,653
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G |
LOC107984703 |
uncharacterized LOC107984703 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,715,483...95,756,779
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G |
LOC110806263 |
TERT 5' regulatory region |
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IAGP |
ClinVar Annotator: match by term: Acute myelocytic leukemia ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:1,294,628...1,298,988
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G |
LOC112272571 |
Sharpr-MPRA regulatory region 11883 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:96,363,212...96,364,247
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G |
LOC126805749 |
BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr 1:64,846,284...64,847,802
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G |
LOC126807619 |
MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:12464997 PMID:25741868 PMID:28492532 |
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NCBI chr 5:177,269,442...177,270,641
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G |
LOC126861451 |
BRD4-independent group 4 enhancer GRCh37_chr12:11991350-11992549 |
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IAGP |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:15806161 |
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NCBI chr12:11,838,416...11,839,615
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G |
LOC126862036 |
MED14-independent group 3 enhancer GRCh37_chr14:96357499-96358698 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,891,162...95,892,361
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G |
LOC126862037 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96552361-96553560 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:96,086,024...96,087,223
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G |
LOC126862038 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96734992-96736191 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:96,268,655...96,269,854
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G |
LOC129390666 |
MPRA-validated peak2244 silencer |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,935,319...95,935,519
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G |
LOC129934333 |
ATAC-STARR-seq lymphoblastoid silent region 11759 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:20923864 PMID:25741868 PMID:28492532 |
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NCBI chr 2:96,265,257...96,265,566
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G |
LOC130056381 |
ATAC-STARR-seq lymphoblastoid active region 8971 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,697,817...95,697,906
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G |
LOC130056382 |
ATAC-STARR-seq lymphoblastoid active region 8972 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,699,577...95,699,766
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G |
LOC130056383 |
ATAC-STARR-seq lymphoblastoid active region 8973 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,712,186...95,712,285
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G |
LOC130056384 |
ATAC-STARR-seq lymphoblastoid active region 8974 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,712,326...95,712,485
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G |
LOC130056385 |
ATAC-STARR-seq lymphoblastoid active region 8975 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,712,526...95,712,745
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G |
LOC130056386 |
ATAC-STARR-seq lymphoblastoid active region 8976 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,713,860...95,713,909
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G |
LOC130056387 |
ATAC-STARR-seq lymphoblastoid silent region 6050 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,714,140...95,714,379
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G |
LOC130056388 |
ATAC-STARR-seq lymphoblastoid active region 8977 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,726,228...95,726,327
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G |
LOC130056389 |
ATAC-STARR-seq lymphoblastoid active region 8978 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:95,726,348...95,726,417
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G |
LOC130056390 |
ATAC-STARR-seq lymphoblastoid active region 8979 |
|
IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:95,729,680...95,729,829
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G |
LOC130056391 |
ATAC-STARR-seq lymphoblastoid active region 8980 |
|
IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:95,729,890...95,729,969
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G |
LOC130056392 |
ATAC-STARR-seq lymphoblastoid silent region 6051 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:96,039,212...96,039,401
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G |
LOC130056393 |
ATAC-STARR-seq lymphoblastoid silent region 6052 |
|
IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:96,039,422...96,039,471
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G |
LOC130056394 |
ATAC-STARR-seq lymphoblastoid active region 8981 |
|
IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:96,052,146...96,052,205
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G |
LOC130056395 |
ATAC-STARR-seq lymphoblastoid active region 8982 |
|
IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:96,078,108...96,078,157
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G |
LOC130056396 |
ATAC-STARR-seq lymphoblastoid active region 8983 |
|
IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:96,126,370...96,126,539
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G |
LOC130056397 |
ATAC-STARR-seq lymphoblastoid active region 8985 |
|
IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:96,361,901...96,361,970
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G |
LOC130064183 |
ATAC-STARR-seq lymphoblastoid silent region 10495 |
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IAGP |
ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:33,302,365...33,302,934
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G |
LOC132090293 |
Neanderthal introgressed variant-containing enhancer experimental_38841 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:96,092,173...96,092,342
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G |
LOC132090294 |
Neanderthal introgressed variant-containing enhancer experimental_38870 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:96,286,395...96,286,564
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G |
LPP |
LIM domain containing preferred translocation partner in lipoma |
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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
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G |
LRP3 |
LDL receptor related protein 3 |
|
IAGP |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,194,330...33,208,864
Ensembl chr19:33,177,603...33,208,864
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G |
LRRC56 |
leucine rich repeat containing 56 |
|
IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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G |
MBD4 |
methyl-CpG binding domain 4, DNA glycosylase |
|
IAGP |
|
HPO |
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MIM:619975 |
NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179
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G |
MDM2 |
MDM2 proto-oncogene |
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IAGP |
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HPO |
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ORPHA:524 |
NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
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G |
MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
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HPO |
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ORPHA:3243 |
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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G |
MFSD11 |
major facilitator superfamily domain containing 11 |
|
IAGP |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
|
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NCBI chr17:76,736,634...76,803,805
Ensembl chr17:76,735,865...76,781,449
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G |
MLF1 |
myeloid leukemia factor 1 |
|
IAGP |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
|
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NCBI chr 3:158,571,194...158,606,456
Ensembl chr 3:158,571,163...158,607,252
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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
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G |
MPL |
MPL proto-oncogene, thrombopoietin receptor |
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IAGP |
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HPO |
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ORPHA:71493 |
NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
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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
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G |
NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:3102434 PMID:18633438 PMID:25741868 |
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NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
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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 PMID:18414213 PMID:23190751 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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G |
NUP214 |
nucleoporin 214 |
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IAGP |
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HPO |
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MIM:601626 |
NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663
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G |
PALB2 |
partner and localizer of BRCA2 |
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IAGP |
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HPO |
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MIM:610832 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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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
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G |
PICALM |
phosphatidylinositol binding clathrin assembly protein |
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IAGP |
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HPO |
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MIM:601626 |
NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882
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G |
PTCH1 |
patched 1 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32321774 |
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NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G |
PTPN6 |
protein tyrosine phosphatase non-receptor type 6 |
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IAGP |
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HPO |
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ORPHA:3243 |
NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
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G |
RHPN2 |
rhophilin Rho GTPase binding protein 2 |
|
IAGP |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr19:32,978,592...33,064,888
Ensembl chr19:32,978,592...33,064,888
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G |
RPL11 |
ribosomal protein L11 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
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G |
RPL15 |
ribosomal protein L15 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374
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G |
RPL18 |
ribosomal protein L18 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
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G |
RPL26 |
ribosomal protein L26 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
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G |
RPL27 |
ribosomal protein L27 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959
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G |
RPL31 |
ribosomal protein L31 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032
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G |
RPL35 |
ribosomal protein L35 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981
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G |
RPL35A |
ribosomal protein L35a |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610
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G |
RPL5 |
ribosomal protein L5 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
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G |
RPL8 |
ribosomal protein L8 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587
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G |
RPL9 |
ribosomal protein L9 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931
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G |
RPS10 |
ribosomal protein S10 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069
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G |
RPS14 |
ribosomal protein S14 |
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IAGP |
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HPO |
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ORPHA:86841 |
NCBI chr 5:150,442,635...150,449,739
Ensembl chr 5:150,442,635...150,449,739
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G |
RPS15A |
ribosomal protein S15a |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383
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G |
RPS17 |
ribosomal protein S17 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459
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G |
RPS19 |
ribosomal protein S19 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
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G |
RPS20 |
ribosomal protein S20 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
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G |
RPS24 |
ribosomal protein S24 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
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G |
RPS26 |
ribosomal protein S26 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
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G |
RPS27 |
ribosomal protein S27 |
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IAGP |
|
HPO |
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ORPHA:124 |
NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155
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G |
RPS28 |
ribosomal protein S28 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
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G |
RPS29 |
ribosomal protein S29 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
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G |
RPS7 |
ribosomal protein S7 |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920
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G |
RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:16199547 PMID:23453664 PMID:23959892 PMID:25607374 PMID:25741868 PMID:28492532 More...
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NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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G |
RTEL1-TNFRSF6B |
RTEL1-TNFRSF6B readthrough (NMD candidate) |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:16199547 PMID:23453664 PMID:23959892 PMID:25607374 PMID:25741868 PMID:28492532 More...
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NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
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G |
RUNX1 |
RUNX family transcription factor 1 |
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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 PMID:20880108 PMID:20955399 PMID:23753029 PMID:23817177 PMID:24100448 PMID:24523240 PMID:25741868 PMID:25840971 PMID:27106701 PMID:27112265 PMID:27137476 PMID:28492532 PMID:28933735 PMID:29365323 PMID:31034769 PMID:31309983 PMID:31876204 PMID:32051554 PMID:32098966 PMID:32208489 PMID:32315381 PMID:32581362 PMID:33692461 PMID:34166225 PMID:35776903 More...
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MIM:601399 MIM:601626 |
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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G |
RUNX1-AS1 |
RUNX1 antisense RNA 1 |
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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 PMID:25741868 PMID:25840971 PMID:28492532 PMID:28933735 PMID:32208489 PMID:32315381 More...
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NCBI chr21:34,836,313...34,885,052
Ensembl chr21:34,836,286...34,884,882
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G |
SAMD9 |
sterile alpha motif domain containing 9 |
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IAGP |
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HPO |
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MIM:619041 |
NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
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G |
SAMD9L |
sterile alpha motif domain containing 9 like |
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IAGP |
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HPO |
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MIM:252270 |
NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
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G |
SBDS |
SBDS ribosome maturation factor |
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IAGP |
|
HPO |
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MIM:260400 ORPHA:811 |
NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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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
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G |
SF3B2 |
splicing factor 3b subunit 2 |
|
IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
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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
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G |
SLC7A10 |
solute carrier family 7 member 10 |
|
IAGP |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,208,664...33,225,850
Ensembl chr19:33,208,664...33,225,850
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G |
SOX3 |
SRY-box transcription factor 3 |
|
IAGP |
ClinVar Annotator: match by term: Acute myelocytic leukemia |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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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
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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
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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
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G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
|
HPO |
|
ORPHA:486 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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G |
TCL1A |
TCL1 family AKT coactivator A |
|
IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
|
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NCBI chr14:95,709,947...95,714,125
Ensembl chr14:95,709,947...95,714,196
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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 PMID:18460650 PMID:18753630 PMID:18931339 PMID:19561322 PMID:19760749 PMID:20301779 PMID:21258621 PMID:21436073 PMID:22853774 PMID:23901009 PMID:24033266 PMID:24833766 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26365799 PMID:26859482 PMID:28154186 PMID:28492532 PMID:28677271 PMID:28813500 PMID:28873162 PMID:29036293 PMID:29483670 PMID:30523342 PMID:31268371 PMID:33850299 PMID:34482403 PMID:35776903 More...
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MIM:601626 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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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
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G |
TGM6 |
transglutaminase 6 |
|
IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:21106500 PMID:23206699 PMID:24755948 PMID:25253745 PMID:26467025 PMID:28492532 PMID:28934387 PMID:30229425 PMID:30670339 PMID:31920494 PMID:32259886 PMID:32426513 More...
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NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
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THPO |
thrombopoietin |
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IAGP |
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HPO |
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ORPHA:71493 |
NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
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TMEM127 |
transmembrane protein 127 |
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IAGP |
ClinVar Annotator: match by term: Acute myelocytic leukemia |
ClinVar |
PMID:20923864 PMID:25741868 PMID:28492532 |
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NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
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TP53 |
tumor protein p53 |
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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 PMID:1999338 PMID:7887414 PMID:8062826 PMID:8099841 PMID:8242752 PMID:8344492 PMID:8425176 PMID:8464896 PMID:8527048 PMID:8633021 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9607760 PMID:9825943 PMID:9891044 PMID:10089074 PMID:10802655 PMID:11051239 PMID:11370630 PMID:11403041 PMID:11782540 PMID:11793474 PMID:12567188 PMID:12826609 PMID:14584079 PMID:14743206 PMID:15355915 PMID:16199549 PMID:16209708 PMID:16258005 PMID:16489069 PMID:16818505 PMID:16861262 PMID:16964264 PMID:17311302 PMID:17417627 PMID:17427234 PMID:17535973 PMID:17599946 PMID:17606709 PMID:17638920 PMID:17881637 PMID:18555592 PMID:18628487 PMID:19147582 PMID:19378321 PMID:19521721 PMID:19556618 PMID:19759556 PMID:19850740 PMID:20013323 PMID:20017945 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20505364 PMID:20520810 PMID:20522432 PMID:21059199 PMID:21159183 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21601526 PMID:21619694 PMID:21672450 PMID:21761402 PMID:22109999 PMID:22186996 PMID:22265402 PMID:22540896 PMID:22703879 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22915647 PMID:22955915 PMID:22983585 PMID:22989750 PMID:22999923 PMID:23172776 PMID:23196062 PMID:23246812 PMID:23264849 PMID:23624782 PMID:23667202 PMID:23887774 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:24728327 PMID:25157968 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25925845 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29522266 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30720243 PMID:30840781 PMID:31105275 PMID:31127191 PMID:31775759 PMID:32187361 PMID:33245408 PMID:33300245 PMID:33580201 PMID:33818021 PMID:34793666 PMID:35127508 PMID:36329109 PMID:36988593 More...
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ORPHA:524 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TSC1 |
TSC complex subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:25741868 PMID:26580448 PMID:28492532 |
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NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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TSR2 |
TSR2 ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:124 |
NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032
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TUNAR |
transmembrane neural differentiation associated intracellular calcium regulator |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr14:95,876,448...95,925,571
Ensembl chr14:95,866,587...95,925,663
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U2AF1 |
U2 small nuclear RNA auxiliary factor 1 |
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IAGP |
ClinVar Annotator: match by term: Acute myeloid leukemia ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
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NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570
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UBE2T |
ubiquitin conjugating enzyme E2 T |
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IAGP |
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HPO |
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MIM:616435 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
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WDR88 |
WD repeat domain 88 |
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IAGP |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,132,114...33,175,799
Ensembl chr19:33,132,090...33,175,799
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WT1 |
WT1 transcription factor |
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IAGP |
ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25145932 PMID:25741868 |
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NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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ZRSR2 |
zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 |
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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
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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
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HPO |
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ORPHA:99646 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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SAMD9L |
sterile alpha motif domain containing 9 like |
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IAGP |
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HPO |
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MIM:159550 ORPHA:2585 |
NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385
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AP002490.1 |
novel transcript |
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IAGP |
ClinVar Annotator: match by term: Acute promyelocytic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:72,014,291...72,020,910
Ensembl chr11:72,014,291...72,020,910
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IL18BP |
interleukin 18 binding protein |
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IAGP |
ClinVar Annotator: match by term: Acute promyelocytic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:71,998,909...72,008,200
Ensembl chr11:71,998,613...72,007,315
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LOC129934333 |
ATAC-STARR-seq lymphoblastoid silent region 11759 |
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IAGP |
ClinVar Annotator: match by term: Acute promyelocytic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32575117 |
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NCBI chr 2:96,265,257...96,265,566
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NUMA1 |
nuclear mitotic apparatus protein 1 |
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IAGP |
ClinVar Annotator: match by term: Acute promyelocytic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
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RARA |
retinoic acid receptor alpha |
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IAGP |
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HPO |
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MIM:612376 |
NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
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SMPD1 |
sphingomyelin phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:77293 |
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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TMEM127 |
transmembrane protein 127 |
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IAGP |
ClinVar Annotator: match by term: Acute promyelocytic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32575117 |
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NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
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NQO2 |
N-ribosyldihydronicotinamide:quinone dehydrogenase 2 |
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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
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TLR8 |
toll like receptor 8 |
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IAGP |
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HPO |
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MIM:301078 |
NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169
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BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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MIM:613029 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia |
ClinVar |
PMID:23623386 PMID:25741868 |
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NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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ETV6 |
ETS variant transcription factor 6 |
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IAGP |
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HPO |
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MIM:616216 |
NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377
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LOC107982234 |
WT1/WT1-AS bi-directional promoter region |
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IAGP |
ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia |
ClinVar |
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
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NCBI chr11:32,430,169...32,437,423
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NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532 |
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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TCF3 |
transcription factor 3 |
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IAGP |
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HPO |
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MIM:619824 |
NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
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WT1 |
WT1 transcription factor |
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IAGP |
ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia |
ClinVar |
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
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NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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ADA |
adenosine deaminase |
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IAGP |
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HPO |
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MIM:102700 ORPHA:277 |
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:79324 |
NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
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ARHGEF1 |
Rho guanine nucleotide exchange factor 1 |
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IAGP |
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HPO |
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MIM:618459 |
NCBI chr19:41,883,184...41,930,141
Ensembl chr19:41,883,173...41,930,150
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ATP11A |
ATPase phospholipid transporting 11A |
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IAGP |
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HPO |
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MIM:619851 |
NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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B2M |
beta-2-microglobulin |
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IAGP |
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HPO |
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MIM:241600 |
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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BTK |
Bruton tyrosine kinase |
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IAGP |
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HPO |
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MIM:300755 |
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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CD79B |
CD79b molecule |
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IAGP |
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HPO |
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MIM:612692 |
NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
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DCLRE1B |
DNA cross-link repair 1B |
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IAGP |
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HPO |
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MIM:620133 |
NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086
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DCLRE1C |
DNA cross-link repair 1C |
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IAGP |
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HPO |
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MIM:602450 MIM:603554 |
NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
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DOCK8 |
dedicator of cytokinesis 8 |
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IAGP |
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HPO |
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ORPHA:217390 |
NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
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FCHO1 |
FCH and mu domain containing endocytic adaptor 1 |
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IAGP |
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HPO |
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MIM:619164 |
NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568
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FNIP1 |
folliculin interacting protein 1 |
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IAGP |
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HPO |
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MIM:619705 |
NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017
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GATA2 |
GATA binding protein 2 |
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IAGP |
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HPO |
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MIM:614172 |
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
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GFI1 |
growth factor independent 1 transcriptional repressor |
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IAGP |
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HPO |
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MIM:613107 |
NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925
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ICOS |
inducible T cell costimulator |
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IAGP |
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HPO |
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MIM:607594 |
NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
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IGHM |
immunoglobulin heavy constant mu |
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IAGP |
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HPO |
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MIM:601495 |
NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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MIM:301081 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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IKZF1 |
IKAROS family zinc finger 1 |
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IAGP |
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HPO |
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MIM:616873 |
NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
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IKZF3 |
IKAROS family zinc finger 3 |
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IAGP |
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HPO |
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MIM:619437 |
NCBI chr17:39,757,715...39,864,312
Ensembl chr17:39,757,715...39,864,312
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IL2RA |
interleukin 2 receptor subunit alpha |
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IAGP |
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HPO |
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MIM:606367 |
NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
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IVNS1ABP |
influenza virus NS1A binding protein |
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IAGP |
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HPO |
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MIM:618969 |
NCBI chr 1:185,296,388...185,317,243
Ensembl chr 1:185,292,931...185,317,273
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JAK3 |
Janus kinase 3 |
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IAGP |
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HPO |
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ORPHA:35078 |
NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
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KNSTRN |
kinetochore localized astrin (SPAG5) binding protein |
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IAGP |
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HPO |
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ORPHA:221139 |
NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
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LRBA |
LPS responsive beige-like anchor protein |
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IAGP |
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HPO |
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MIM:614700 |
NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
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MAP3K14 |
mitogen-activated protein kinase kinase kinase 14 |
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IAGP |
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HPO |
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MIM:620449 |
NCBI chr17:45,263,119...45,317,020
Ensembl chr17:45,263,119...45,317,029
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MCM10 |
minichromosome maintenance 10 replication initiation factor |
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IAGP |
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HPO |
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MIM:619313 |
NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,558...13,211,110
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MYD88 |
MYD88 innate immune signal transduction adaptor |
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IAGP |
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HPO |
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MIM:612260 |
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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MYSM1 |
Myb like, SWIRM and MPN domains 1 |
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IAGP |
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HPO |
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ORPHA:508542 |
NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090
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NBN |
nibrin |
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IAGP |
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HPO |
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MIM:251260 |
NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
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NHEJ1 |
non-homologous end joining factor 1 |
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IAGP |
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HPO |
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ORPHA:169079 |
NCBI chr 2:219,069,357...219,160,815
Ensembl chr 2:219,069,355...219,160,869
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PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
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IAGP |
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HPO |
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MIM:619281 ORPHA:221139 ORPHA:397596 |
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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MIM:616005 ORPHA:397596 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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POLD1 |
DNA polymerase delta 1, catalytic subunit |
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IAGP |
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HPO |
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MIM:620836 |
NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
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POMP |
proteasome maturation protein |
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IAGP |
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HPO |
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MIM:618048 |
NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959
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PRKDC |
protein kinase, DNA-activated, catalytic subunit |
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IAGP |
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HPO |
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MIM:615966 |
NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
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PSMB10 |
proteasome 20S subunit beta 10 |
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IAGP |
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HPO |
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MIM:620807 |
NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:397596 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTPRC |
protein tyrosine phosphatase receptor type C |
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IAGP |
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HPO |
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MIM:619924 |
NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,759,342
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RAC2 |
Rac family small GTPase 2 |
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IAGP |
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HPO |
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MIM:618986 MIM:618987 |
NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
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RAG1 |
recombination activating 1 |
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IAGP |
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HPO |
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MIM:233650 MIM:601457 MIM:603554 ORPHA:231154 |
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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RAG2 |
recombination activating 2 |
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IAGP |
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HPO |
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MIM:233650 MIM:601457 MIM:603554 |
NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
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REL |
REL proto-oncogene, NF-kB subunit |
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IAGP |
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HPO |
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MIM:619652 |
NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612
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RFX5 |
regulatory factor X5 |
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IAGP |
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HPO |
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MIM:620816 |
NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326
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RIPK1 |
receptor interacting serine/threonine kinase 1 |
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IAGP |
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HPO |
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MIM:618108 |
NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187
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SASH3 |
SAM and SH3 domain containing 3 |
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IAGP |
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HPO |
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MIM:301082 |
NCBI chr X:129,779,949...129,795,201
Ensembl chr X:129,779,949...129,795,201
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STAT1 |
signal transducer and activator of transcription 1 |
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IAGP |
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HPO |
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ORPHA:391487 |
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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SYK |
spleen associated tyrosine kinase |
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IAGP |
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HPO |
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MIM:619381 |
NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
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TCF3 |
transcription factor 3 |
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IAGP |
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HPO |
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MIM:616941 MIM:619824 |
NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
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TLR8 |
toll like receptor 8 |
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IAGP |
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HPO |
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MIM:301078 |
NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169
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TRNT1 |
tRNA nucleotidyl transferase 1 |
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IAGP |
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HPO |
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MIM:616084 |
NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435
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UNC119 |
unc-119 lipid binding chaperone |
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IAGP |
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HPO |
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MIM:615518 |
NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
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WDR1 |
WD repeat domain 1 |
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IAGP |
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HPO |
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MIM:150550 |
NCBI chr 4:10,074,339...10,116,799
Ensembl chr 4:10,068,089...10,116,972
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ZBTB24 |
zinc finger and BTB domain containing 24 |
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IAGP |
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HPO |
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MIM:614069 |
NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239
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LIPA |
lipase A, lysosomal acid type |
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IAGP |
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HPO |
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MIM:278000 ORPHA:75233 |
NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
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NEU1 |
neuraminidase 1 |
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IAGP |
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HPO |
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MIM:256550 |
NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905
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NPC1 |
NPC intracellular cholesterol transporter 1 |
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IAGP |
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HPO |
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MIM:257220 |
NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
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NPC2 |
NPC intracellular cholesterol transporter 2 |
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IAGP |
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HPO |
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MIM:607625 |
NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177
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G |
SMPD1 |
sphingomyelin phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:257200 MIM:607616 |
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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G |
FIP1L1 |
factor interacting with PAPOLA and CPSF1 |
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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
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PDGFRA |
platelet derived growth factor receptor alpha |
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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
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G |
WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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G |
WIPF1 |
WAS/WASL interacting protein family member 1 |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
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ADAR |
adenosine deaminase RNA specific |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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G |
ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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ORPHA:98849 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
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NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
FBXW7 |
F-box and WD repeat domain containing 7 |
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IAGP |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
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NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
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G |
HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
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NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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G |
IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:98849 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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G |
LRRC56 |
leucine rich repeat containing 56 |
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IAGP |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
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NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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LSM11 |
LSM11, U7 small nuclear RNA associated |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
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MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
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HPO |
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ORPHA:3243 |
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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MIM:616005 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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G |
PLCG2 |
phospholipase C gamma 2 |
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IAGP |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
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NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
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NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G |
PTPN6 |
protein tyrosine phosphatase non-receptor type 6 |
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IAGP |
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HPO |
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ORPHA:3243 |
NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
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G |
RNASEH2A |
ribonuclease H2 subunit A |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
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G |
RNASEH2B |
ribonuclease H2 subunit B |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
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G |
RNASEH2C |
ribonuclease H2 subunit C |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
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G |
RNU7-1 |
RNA, U7 small nuclear 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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G |
SAMHD1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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G |
SF3B1 |
splicing factor 3b subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
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NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
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G |
SF3B2 |
splicing factor 3b subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
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NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
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G |
SRSF2 |
serine and arginine rich splicing factor 2 |
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IAGP |
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HPO |
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ORPHA:98849 |
NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
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G |
TET2 |
tet methylcytosine dioxygenase 2 |
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IAGP |
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HPO |
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ORPHA:98849 |
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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G |
TP53 |
tumor protein p53 |
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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 PMID:10922393 PMID:11139324 PMID:11782540 PMID:12826609 PMID:15037740 PMID:16818505 PMID:17015838 PMID:17606709 PMID:18307025 PMID:19101993 PMID:20028212 PMID:20128691 PMID:20407015 PMID:20593220 PMID:20805372 PMID:21118481 PMID:21343334 PMID:21356188 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23246812 PMID:23484829 PMID:23630318 PMID:24065105 PMID:24573247 PMID:24702488 PMID:25256166 PMID:25404506 PMID:25741868 PMID:25765855 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27714481 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:33300245 PMID:36988593 More...
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NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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G |
TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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G |
XPO1 |
exportin 1 |
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IAGP |
ClinVar Annotator: match by term: Chronic lymphatic leukemia |
ClinVar |
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NCBI chr 2:61,477,849...61,538,612
Ensembl chr 2:61,476,032...61,538,741
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G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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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 PMID:28492532 PMID:36063163 More...
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MIM:608232 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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G |
BCR |
BCR activator of RhoGEF and GTPase |
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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
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G |
CSF3R |
colony stimulating factor 3 receptor |
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IAGP |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
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NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278
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G |
IKZF1 |
IKAROS family zinc finger 1 |
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IAGP |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
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NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
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G |
JAK2 |
Janus kinase 2 |
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IAGP |
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HPO |
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ORPHA:71493 |
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:8439212 PMID:15696205 PMID:17332249 PMID:17704260 PMID:19047918 PMID:19349489 PMID:19358724 PMID:20949621 PMID:21044336 PMID:21169357 PMID:22683711 PMID:23096712 PMID:24033266 PMID:24138715 PMID:25741868 PMID:26242988 PMID:28492532 PMID:29298116 PMID:31891627 More...
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NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
MPL |
MPL proto-oncogene, thrombopoietin receptor |
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IAGP |
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HPO |
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ORPHA:71493 |
NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
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G |
NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
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NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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G |
SF3B1 |
splicing factor 3b subunit 1 |
|
IAGP |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:25741868 |
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NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
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G |
THPO |
thrombopoietin |
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IAGP |
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HPO |
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ORPHA:71493 |
NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
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G |
ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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ORPHA:98849 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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IAGP |
|
HPO |
|
ORPHA:98849 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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G |
SRSF2 |
serine and arginine rich splicing factor 2 |
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IAGP |
|
HPO |
|
ORPHA:98849 |
NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
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G |
TET2 |
tet methylcytosine dioxygenase 2 |
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IAGP |
|
HPO |
|
ORPHA:98849 |
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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G |
CDC40 |
cell division cycle 40 |
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IAGP |
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HPO |
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MIM:619302 |
NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275
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G |
CXCR2 |
C-X-C motif chemokine receptor 2 |
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IAGP |
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HPO |
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MIM:619407 |
NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
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G |
DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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IAGP |
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HPO |
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ORPHA:811 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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G |
EFL1 |
elongation factor like GTPase 1 |
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IAGP |
|
HPO |
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ORPHA:811 |
NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
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G |
FIBP |
FGF1 intracellular binding protein |
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IAGP |
|
HPO |
|
ORPHA:500095 |
NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
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G |
LRBA |
LPS responsive beige-like anchor protein |
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IAGP |
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HPO |
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MIM:614700 |
NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
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G |
PPIL1 |
peptidylprolyl isomerase like 1 |
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IAGP |
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HPO |
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MIM:619301 |
NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803
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G |
SBDS |
SBDS ribosome maturation factor |
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IAGP |
|
HPO |
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ORPHA:811 |
NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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G |
SLC37A4 |
solute carrier family 37 member 4 |
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IAGP |
|
HPO |
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ORPHA:79259 |
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
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G |
AK2 |
adenylate kinase 2 |
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IAGP |
|
HPO |
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MIM:267500 |
NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996
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G |
ELANE |
elastase, neutrophil expressed |
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IAGP |
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HPO |
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MIM:202700 |
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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IAGP |
ClinVar Annotator: match by term: Cutaneous mastocytosis |
ClinVar HPO |
PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 PMID:11380399 PMID:11493470 PMID:11505412 PMID:15173254 PMID:16352739 PMID:19262599 PMID:19865100 PMID:21689725 PMID:24728327 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
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MIM:154800 ORPHA:280785 ORPHA:280794 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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G |
ELANE |
elastase, neutrophil expressed |
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IAGP |
ClinVar Annotator: match by term: Neutropenia cyclic |
ClinVar HPO |
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MIM:162800 ORPHA:2686 |
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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G |
SLC37A4 |
solute carrier family 37 member 4 |
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IAGP |
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HPO |
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MIM:232240 |
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
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G |
TAFAZZIN |
tafazzin, phospholipid-lysophospholipid transacylase |
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IAGP |
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HPO |
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MIM:302060 |
NCBI chr X:154,411,539...154,421,726
Ensembl chr X:154,411,524...154,421,726
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G |
BACH2 |
BTB domain and CNC homolog 2 |
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IAGP |
|
HPO |
|
MIM:618394 |
NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843
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G |
AP3B1 |
adaptor related protein complex 3 subunit beta 1 |
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IAGP |
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HPO |
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MIM:608233 |
NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762
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G |
CASP8 |
caspase 8 |
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IAGP |
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HPO |
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MIM:607271 |
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
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CTPS1 |
CTP synthase 1 |
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IAGP |
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HPO |
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MIM:615897 |
NCBI chr 1:40,979,696...41,012,565
Ensembl chr 1:40,979,300...41,012,565
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DEF6 |
DEF6 guanine nucleotide exchange factor |
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IAGP |
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HPO |
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MIM:619573 |
NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771
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GATA2 |
GATA binding protein 2 |
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IAGP |
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HPO |
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MIM:614038 |
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
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IL2RA |
interleukin 2 receptor subunit alpha |
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IAGP |
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HPO |
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MIM:606367 |
NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
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IL2RB |
interleukin 2 receptor subunit beta |
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IAGP |
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HPO |
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MIM:618495 |
NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118
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MAGT1 |
magnesium transporter 1 |
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IAGP |
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HPO |
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MIM:300853 |
NCBI chr X:77,825,747...77,895,568
Ensembl chr X:77,825,747...77,899,271
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RFXAP |
regulatory factor X associated protein |
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IAGP |
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HPO |
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MIM:620817 |
NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104
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UNC119 |
unc-119 lipid binding chaperone |
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IAGP |
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HPO |
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MIM:615518 |
NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
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WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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MIM:300299 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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ATRX |
ATRX chromatin remodeler |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CARD10 |
caspase recruitment domain family member 10 |
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IAGP |
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HPO |
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MIM:619632 |
NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542
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CDH23 |
cadherin related 23 |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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ELANE |
elastase, neutrophil expressed |
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IAGP |
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HPO |
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ORPHA:2686 |
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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TP53 |
tumor protein p53 |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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USP48 |
ubiquitin specific peptidase 48 |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606
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USP8 |
ubiquitin specific peptidase 8 |
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IAGP |
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HPO |
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ORPHA:96253 |
NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
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FOXP3 |
forkhead box P3 |
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IAGP |
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HPO |
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MIM:304790 |
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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G |
FOXN1 |
forkhead box N1 |
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IAGP |
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HPO |
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MIM:601705 |
NCBI chr17:28,506,348...28,538,900
Ensembl chr17:28,506,243...28,538,900
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