Thrombocythemia

Disease Term Disease ID Gene Symbol Classification References Source
Essential thrombocythemia 3318 CALR Causal Pathogenic evidence from ClinVar - ClinVar
JAK2 Causal Pathogenic evidence from ClinVar - ClinVar
MPL Causal Pathogenic evidence from ClinVar - ClinVar
SH2B3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TET2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TP53 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
THROMBOCYTHEMIA 1 C3277671 CALR Causal Pathogenic evidence from ClinVar 24325359 ClinVar
MPL Causal Pathogenic evidence from ClinVar 18451306, 18528423, 19608689, 20151976 ClinVar
THPO Causal Pathogenic evidence from ClinVar 22453305, 29191945 ClinVar
ATXN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SH2B3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Thrombocythemia, Essential C0040028 CALR Causal Pathogenic evidence from ClinVar 24325256, 24325359 ClinVar
JAK2 Causal Pathogenic evidence from ClinVar 15781101, 15858187, 16484586, 16896569, 19154659, 19636672, 20434300, 21653328, 21825979, 21942426 ClinVar
MPL Causal Pathogenic evidence from ClinVar 8073287, 10971406, 11133753, 11972523, 16470591, 17666371, 18240171, 18422784, 19036112, 19302922, 21659346, 25538044, 28859041 ClinVar
THPO Causal Pathogenic evidence from ClinVar - ClinVar
FGF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15682418 -
IFNA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12924084 -
PDGFA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15682418 -
PDGFB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15682418 -
SH2B3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21653328, 21825979 -
TET2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19262601, 23781511 -
TGFB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15682418 -
TP53 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9258660, 20068225, 21653328 -
THROMBOCYTHEMIA 3 C3281125 JAK2 Causal Pathogenic evidence from ClinVar 16325696, 22397670 ClinVar
THROMBOCYTHEMIA 2 C3275998 MPL Causal Pathogenic evidence from ClinVar 14764528, 18024606, 19483125, 23441089, 25538044 ClinVar