Thrombocytopenia

Disease Term Disease ID Gene Symbol Classification References Source
THROMBOCYTOPENIA
C0040034MESH:D013921MONDO:0002049
PTPRJ Unknown — Disgenet
RAP1B Unknown — Disgenet
RASGRP2 Unknown — Disgenet
SERPINC1 Unknown — Disgenet
SPARC Unknown
27725143
CTD Disgenet
STXBP2 Unknown — Disgenet
TBXAS1 Unknown — Disgenet
TLN1 Unknown
30888838 35861643
GWAS catalog
TNF Unknown — Disgenet
TNFRSF10A Unknown
19652058
CTD Disgenet
TPM4 Unknown — Disgenet
TPP2 Unknown — Disgenet
VPS33B Unknown — Disgenet
WDR1 Unknown
17515402
CTD Disgenet
XDH Unknown
2510358
CTD Disgenet
THROMBOCYTOPENIA 1
313900C1839163MESH:C564052MONDO:0010743
WAS Causal
20301357
CTD ClinVar Disgenet HPO
THROMBOCYTOPENIA 10
620484C5882682MONDO:0957578
PTPRJ Causal — ClinGen ClinVar Disgenet GenCC HPO
THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
620654C5882734MONDO:0958000
RAP1B Causal — ClinVar Disgenet GenCC HPO
THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY
620757C5935593MONDO:0958325
GNE Causal — ClinVar Disgenet HPO
THROMBOCYTOPENIA 13, SYNDROMIC
620776C5935599MONDO:0958333
GALE Causal — ClinVar Disgenet HPO
THROMBOCYTOPENIA 2
188000C1861185MONDO:0008555OMIM:188000
ANKRD26 Causal
21211618 21467542 23677566 24030261 24430186 25902755 26175287 28109976 30747248
CTD ClinGen ClinVar Disgenet HPO
MASTL Unknown — Disgenet
THROMBOCYTOPENIA 3
273900C2678311MESH:C567487MONDO:0010120
FYB1 Causal
25516138 25876182
CTD ClinGen ClinVar Disgenet GWAS catalog HPO
THROMBOCYTOPENIA 4
612004C2677608MESH:C567438MONDO:0012775MONDO_0012775
CYCS Causal
18345000 21192676 24099549 24326104 26123826 27479822 27861742 29287084 30051457
CTD ClinGen ClinVar Disgenet GWAS catalog HPO
ARHGEF3 Unknown
39024449
GWAS catalog
BAK1 Unknown
39024449
GWAS catalog
CDKN2A Unknown
39024449
GWAS catalog
GCSAML Unknown
39024449
GWAS catalog
GTF3C5 Unknown
39024449
GWAS catalog
HBS1L Unknown
39024449
GWAS catalog
JAK2 Unknown
39024449
GWAS catalog
JMJD1C Unknown
39024449
GWAS catalog
PNPLA3 Unknown
39024449
GWAS catalog
PPARG Unknown
39024449
GWAS catalog
SIRPA Unknown
39024449
GWAS catalog
THADA Unknown
39024449
GWAS catalog
THPO Unknown
39024449
GWAS catalog
TPM4 Unknown
39024449
GWAS catalog
TUBB1 Unknown
39024449
GWAS catalog
ZNF474 Unknown
40465716
GWAS catalog
ZNF475 Unknown
40465716
GWAS catalog
THROMBOCYTOPENIA 5
616216C4015537MONDO:0014536OMIM:616216
ETV6 Causal — CTD ClinGen ClinVar Disgenet GenCC HPO
CLDN16 Unknown — Disgenet
THROMBOCYTOPENIA 6
616937C4310789MONDO:0014837OMIM:616937
SRC Causal
26936507 31204551
CTD ClinGen ClinVar Disgenet GWAS catalog HPO
THROMBOCYTOPENIA 7
619130C5436874MONDO:0030867
IKZF5 Causal
22674643 31217188 32419556
ClinGen ClinVar Disgenet GWAS catalog HPO
THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY
620475C5882677
ACTB Unknown — Disgenet HPO
THROMBOCYTOPENIA 9
620478C5882678MONDO:0957572
THPO Causal
10583217 28466964 32150607 9425899
ClinVar Disgenet GWAS catalog HPO
THROMBOCYTOPENIA DUE TO PLATELET ALLOIMMUNIZATION
C0272286
FCGR3A Unknown — Disgenet
THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
314050
GATA1 Unknown — HPO
THROMBOCYTOPENIA, ANASARCA, FEVER, RENAL INSUFFICIENCY, ORGANOMEGALY SYNDROME
C4552543
ARID2 Unknown — Disgenet