Myelofibrosis

Disease Term Disease ID Gene Symbol Classification References Source
Myelofibrosis C0026987 CALR Causal Pathogenic evidence from ClinVar 24325256, 24325359 ClinVar
JAK2 Causal Pathogenic evidence from ClinVar - ClinVar
MPL Causal Pathogenic evidence from ClinVar 16834459, 16868251 ClinVar
TET2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19262601, 19557078 -
Primary myelofibrosis 824 CALR Causal Pathogenic evidence from ClinVar - ClinVar
JAK2 Causal Pathogenic evidence from ClinVar - ClinVar
MPL Causal Pathogenic evidence from ClinVar - ClinVar
TET2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Primary Myelofibrosis C0001815 CALR Causal Pathogenic evidence from ClinVar 24325256, 24325359 ClinVar
JAK2 Causal Pathogenic evidence from ClinVar 15781101, 15858187, 16293597, 16951397, 19154659, 19287382, 19287384, 19287385, 19636672, 21942426, 24986690, 25157968 ClinVar
MPL Causal Pathogenic evidence from ClinVar 16834459, 16868251, 18528423, 20151976 ClinVar
SH2B3 Causal Pathogenic evidence from ClinVar - ClinVar
EZH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20601953 -
GFI1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MPIG6B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NBEAL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SRC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TBXAS1 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 19262601, 19557078 -
TP53 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Familial myelofibrosis C2931351 VPS45 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23599270 -