Macrothrombocytopenia

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA
C4304021140957MONDO:0015372
ACTN1 Unknown
23434115
Disgenet
GFI1B Unknown
23927492
Disgenet
GP1BA Unknown
21933849
Disgenet
GP1BB Unknown
28064200
Orphanet
ITGA2B Unknown
21454453
Orphanet
ITGB3 Unknown
18065693 19336737
Disgenet Orphanet
TPM4 Unknown
28134622
Disgenet Orphanet
TRPM7 Unknown
27020697
GWAS catalog Orphanet
TUBA4A Unknown
25374358 30760556
Disgenet
TUBA8 Unknown
34704371
Disgenet
TUBB1 Unknown
18849486
Disgenet