Thrombophilia

Disease Term Disease ID Gene Symbol Classification References Source
Thrombophilia C0398623 F2 Causal Pathogenic evidence from ClinVar 16628723 ClinVar
F5 Causal Pathogenic evidence from ClinVar - ClinVar
MTHFR Causal Pathogenic evidence from ClinVar 17493413 ClinVar
PROC Causal Pathogenic evidence from ClinVar - ClinVar
PROS1 Causal Pathogenic evidence from ClinVar - ClinVar
AGGF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DLD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EPB42 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
F13A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
F8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16628723 -
F9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8473507 -
GATA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HABP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HRG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYD88 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PIGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PLAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SERPINA10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10829076, 15461625 -
SERPIND1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2214444 -
SLC4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPTA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPTB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
THBD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12139752 -
Thrombophilia, hereditary C2584620 F5 Causal Pathogenic evidence from ClinVar 9136971 ClinVar
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE C2676759 PROC Causal Pathogenic evidence from ClinVar 1511988, 1593215, 1611081, 7841323, 7841324, 7878626, 25618265 ClinVar
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant C2674321 PROC Causal Pathogenic evidence from ClinVar 1301959, 1347608, 1347706, 1464619, 1498334, 1511989, 1593215, 1771629, 1868249, 2437584, 2602169, 7482420, 7605880, 7792728, 7865674, 8292730, 8398832, 8446940, 8477066, 8499565, 8499568, 8505327, 8560401, 8807339, 8829639, 9798967, 9840027, 10942114, 14642106, 15978566, 16867987, 17152060, 17635713, 18954896, 19822351, 22545135, 22817391, 23332921, 24028705, 24162787, 25618265, 25748729, 27172833, 28111891, 28468828 ClinVar
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT C3278211 PROS1 Causal Pathogenic evidence from ClinVar 7482398, 7545463, 7579449, 7803790, 8298131, 8639833, 8701404, 8765219, 8781426, 8943854, 8977443, 9031443, 9241758, 10447256, 10613647, 10706858, 10790208, 11372770, 11776305, 11858485, 11927129, 12351389, 12632031, 15238143, 15712227, 16461766, 16961608, 18322254, 18954896, 19826897, 20811787, 21285903, 21811774, 26251307, 26985940 ClinVar
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE C3281092 PROS1 Causal Pathogenic evidence from ClinVar 7803790, 12351389, 20484936, 20880255, 22261441 ClinVar
Thrombophilia Due To Elevated Histidine-Rich Glycoprotein C2751091 HRG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9414276 -
Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency C2751090 HRG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9414276, 11057869, 29108964 -
Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator C2676721 PLAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Thrombophilia due to Thrombomodulin Defect C3280976 THBD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7811989, 9198186, 12139752, 23307876, 25049278, 25564403 -