Angioedema

Disease Term Disease ID Gene Symbol Classification References Source
Angioedemas, Hereditary C0019243 PLG Causal Pathogenic evidence from ClinVar - ClinVar
SERPING1 Causal Pathogenic evidence from ClinVar 7883978, 9734886, 19477491, 23406939, 23634741, 23844784, 23866957 ClinVar
F12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16638441, 17186468, 17825897, 19178938, 19474702, 19477491, 20490261, 25744496, 25790805 -
GRK6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16638441, 17186468, 17825897, 19178938, 19474702, 20490261, 25744496, 25790805 -
KNG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9734886 -
PLG-related hereditary angioedema with normal C1Inh 537072 PLG Causal Pathogenic evidence from ClinVar - ClinVar
Acquired angioedema C2931758 SERPING1 Causal Pathogenic evidence from ClinVar 9734886, 23406939 ClinVar
KNG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9734886 -
Hereditary angioedema type 1 100050 SERPING1 Causal Pathogenic evidence from ClinVar - ClinVar
Hereditary angioedema type 2 100051 SERPING1 Causal Pathogenic evidence from ClinVar - ClinVar
Hereditary Angioedema Type I C2717906 SERPING1 Causal Pathogenic evidence from ClinVar 1363816, 1451784, 1644161, 2118657, 2296585, 2365061, 3178731, 7814636, 7883978, 8172583, 8529136, 8755917, 12773530, 14635117, 15806011, 16409206, 18387221, 22994404, 24456027, 28194776, 29753808 ClinVar
C1S Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3184114 -
Hereditary Angioedema Type II C1862892 SERPING1 Causal Pathogenic evidence from ClinVar 1644161, 15806011, 18387221, 24456027 ClinVar
C1S Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3184114 -
Hereditary Angioedema Types I and II C2717905 SERPING1 Causal Pathogenic evidence from ClinVar 1644161, 15806011, 18387221 ClinVar
C1S Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3184114 -
ANGPT1-related hereditary angioedema with normal C1Inh 537891 ANGPT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
F12-related hereditary angioedema with normal C1Inh 100054 F12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary Angioedema Type III C1857728 F12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2882793, 16638441, 17186468, 17381464, 19178938, 20384613, 21849258, 23994767, 25524745, 26193639, 27003566, 30463937 -
GRK6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary angioedema with normal C1 esterase inhibitor activity C1960459 F12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20384613 -