Macrothrombocytopenia

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal dominant macrothrombocytopenia 140957, C4304021 ACTN1 Causal Pathogenic evidence from ClinVar 23434115 ClinVar
GP1BB Causal Pathogenic evidence from ClinVar 28064200 ClinVar
ITGA2B Causal Pathogenic evidence from ClinVar 21454453 ClinVar
ITGB3 Causal Pathogenic evidence from ClinVar 18065693, 19336737 ClinVar
TUBB1 Causal Pathogenic evidence from ClinVar 18849486 ClinVar
GFI1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28439885 -
TPM4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28134622 -
Macrothrombocytopenia C2751260 ACTN1 Causal Pathogenic evidence from ClinVar 31064749 ClinVar
GP1BA Causal Pathogenic evidence from ClinVar 31064749 ClinVar
GP1BB Causal Pathogenic evidence from ClinVar - ClinVar
GP9 Causal Pathogenic evidence from ClinVar 31064749 ClinVar
ITGA2B Causal Pathogenic evidence from ClinVar - ClinVar
ITGB3 Causal Pathogenic evidence from ClinVar - ClinVar
TUBB1 Causal Pathogenic evidence from ClinVar 31064749 ClinVar
CHRNE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31064749 -
FLNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21960593 -
GATA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PRKACG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SEPTIN5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC35A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30115659 -
TPM4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28134622 -
TRPM7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27020697 -
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related C2751259 TUBB1 Causal Pathogenic evidence from ClinVar 18849486, 24344610 ClinVar
Severe autosomal recessive macrothrombocytopenia 438207 PRKACG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -