Platelet-type bleeding disorder

Disease Term Disease ID Gene Symbol Classification References Source
BLEEDING DISORDER, PLATELET-TYPE, 15 C3554663 ACTN1 Causal Pathogenic evidence from ClinVar 23434115, 24069336, 25949529 ClinVar
Blood Platelet Disorders C0005818 CD36 Causal Pathogenic evidence from ClinVar 7533783, 10946357, 11019968, 11718687, 11950861, 15282206, 24917573, 24960640, 25798958 ClinVar
SLFN14 Causal Pathogenic evidence from ClinVar 26769223 ClinVar
ABCG5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27291889 -
ABCG8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28696550 -
ACTB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22366783 -
AP3D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27900855 -
ARPC1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27965109 -
CDC42 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29394990 -
FERMT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18278053 -
FYB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25876182 -
KDSR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28575652 -
MPIG6B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23112346 -
PLA2G4A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18451993 -
RNU4ATAC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28623346 -
SRC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26936507 -
TBXA2R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7929844, 19828703 -
TPM4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28134622 -
Bleeding Disorder Due To P2RY12 Defect C1853278 P2RY12 Causal Pathogenic evidence from ClinVar 11196645, 12578987, 25428217 ClinVar
MED12L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BLEEDING DISORDER, PLATELET-TYPE, 19 C4015405 PRKACG Causal Pathogenic evidence from ClinVar 25061177 ClinVar
BLEEDING DISORDER, PLATELET-TYPE, 18 C4014584 RASGRP2 Causal Pathogenic evidence from ClinVar 9789079, 15334074, 17576779, 18709451, 24958846, 27235135, 27417588, 27663674, 28637664, 28726538, 28762304 ClinVar
BLEEDING DISORDER, PLATELET-TYPE, 20 C4310797 SLFN14 Causal Pathogenic evidence from ClinVar 26280575, 26769223 ClinVar