Antithrombin deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Antithrombin III Deficiency C0272375 SERPINC1 Causal Pathogenic evidence from ClinVar 1469094, 1547341, 1555650, 1873224, 1906811, 2013320, 2229057, 2365065, 2615648, 2781509, 2794060, 3080419, 3162733, 3179438, 3191114, 3805013, 6435583, 6582486, 7734359, 7832187, 7878627, 7959685, 7981186, 7989582, 7994035, 8274732, 8443391, 8486379, 9031473, 9157604, 9759613, 9845533, 10997988, 11713457, 11794707, 12353073, 12595305, 12894857, 15164384, 16620552, 16908819, 21325262, 23910795, 24082793, 24162787, 24684277, 24956267, 26748602, 27322195, 28300866, 28317092, 31064749 ClinVar
AHCY Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALG6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DPM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DPM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MGAT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MPI Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PMM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SRD5A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary Antithrombin Deficiency C3658294 SERPINC1 Causal Pathogenic evidence from ClinVar 6435583 ClinVar