Disease Term Disease ID Gene Symbol Classification References Source
ACTB-ASSOCIATED SYNDROMIC THROMBOCYTOPENIA ACTB Causal GenCC
THROMBOCYTOPENIA ACTN1 Causal Disgenet
ADAMTS13 Causal Disgenet
ANKRD26 Causal Disgenet
CYCS Causal CTD Disgenet
ERCC6L2 Causal Disgenet
ETV6 Causal CTD Disgenet
F11 Causal Disgenet
FLI1 Causal Disgenet
GATA1 Causal CTD Disgenet
GBA1 Causal Disgenet
GFI1B Causal Disgenet
GNE Causal Disgenet
GP1BA Causal Disgenet
GP1BB Causal CTD Disgenet
GP9 Causal CTD Disgenet
ITGA2B Causal CTD Disgenet
ITGB3 Causal CTD Disgenet
LYST Causal Disgenet
MCFD2 Causal Disgenet
MECOM Causal Disgenet
MPL Causal Disgenet
MYH9 Causal Disgenet
NBEAL2 Causal Disgenet
PTPN11 Causal Disgenet
RUNX1 Causal Disgenet
SLC45A2 Causal Disgenet
SLFN14 Causal Disgenet
SMAD4 Causal Disgenet
SRC Causal Disgenet
THBD Causal Disgenet
THPO Causal Disgenet
TUBB1 Causal Disgenet
VWF Causal Disgenet
WAS Causal Disgenet
ABCG5 Unknown Disgenet
ABCG8 Unknown Disgenet
ACBD5 Unknown Disgenet
ACTB Unknown Disgenet
ACVRL1 Unknown Disgenet
ALB Unknown CTD Disgenet
AP3B1 Unknown Disgenet
AP3D1 Unknown Disgenet
ARPC1B Unknown Disgenet
ASPG Unknown CTD Disgenet
ATRN Unknown Disgenet
BRIP1 Unknown Disgenet
CCL2 Unknown Disgenet
COL4A4 Unknown Disgenet
COL5A1 Unknown Disgenet