Aortic aneurysm

Disease Term Disease ID Gene Symbol Classification References Source
Aortic Aneurysm C0003486 ACTA2 Causal Pathogenic evidence from ClinVar - ClinVar
LOX Causal Pathogenic evidence from ClinVar 27432961 ClinVar
MYH11 Causal Pathogenic evidence from ClinVar - ClinVar
MYLK Causal Pathogenic evidence from ClinVar - ClinVar
ADAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AGT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21925196 -
ALDH18A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARFGEF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BCR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C12orf57 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHRNG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CRKL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EFEMP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16685658, 17937443 -
Aortic Aneurysm, Abdominal C0162871 ACTA2 Causal Pathogenic evidence from ClinVar - ClinVar
LOX Causal Pathogenic evidence from ClinVar - ClinVar
MYH11 Causal Pathogenic evidence from ClinVar - ClinVar
MYLK Causal Pathogenic evidence from ClinVar - ClinVar
PRKG1 Causal Pathogenic evidence from ClinVar - ClinVar
ACE2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25301841 -
AGT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16514081, 20937366, 22539767, 25301841 -
AGTR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22539767 -
ANKRD44 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27418160 -
ANKRD44-IT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27418160 -
CDKN2B-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20622881, 27418160, 27899403 -
COL3A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2243125, 10388642 -
DAB2IP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20622881, 27899403 -
Aortic Aneurysm, Familial Thoracic 6 C2673186 ACTA2 Causal Pathogenic evidence from ClinVar 17994018, 19409525, 19639654, 20734336, 21212136, 21248741, 21288906, 21733706, 21937134, 22752479, 22831780, 22946110, 24020716, 24243736, 24293535, 24621862, 24998021, 25644172, 25759435, 25944730, 26034244, 26153420, 26888179, 27481187, 27567161, 27611364 ClinVar
ACTA2-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17994018, 19409525, 19639654, 25644172, 26153420 -
Aortic Aneurysm, Thoracic C0162872 ACTA2 Causal Pathogenic evidence from ClinVar 17994018 ClinVar
PRKG1 Causal Pathogenic evidence from ClinVar - ClinVar
ANKRD44 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27418160 -
ANKRD44-IT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27418160 -
CDKN2B-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27418160 -
Aortic Aneurysm, Thoracoabdominal C0340630 ACTA2 Causal Pathogenic evidence from ClinVar 17994018 ClinVar
AORTIC ANEURYSM, FAMILIAL THORACIC 10 C4284414 LOX Causal Pathogenic evidence from ClinVar 26838787, 27432961 ClinVar
Aortic aneurysm, familial thoracic 4 C1851504 MYH11 Causal Pathogenic evidence from ClinVar 16444274, 17666408, 21937134, 26888179, 27611364 ClinVar
AORTIC ANEURYSM, FAMILIAL THORACIC 7 C3151077 MYLK Causal Pathogenic evidence from ClinVar 21055718, 25907466, 26188975, 28401540 ClinVar
AORTIC ANEURYSM, FAMILIAL THORACIC 8 C3809513 PRKG1 Causal Pathogenic evidence from ClinVar 23910461, 27442293 ClinVar
Aneurysm, Dissecting C0002949 AGT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17502491 -
COL1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8757037 -
COL3A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL5A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL5A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Aortic Aneurysm, Ruptured C0741160 ATP7A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2346371, 25449986 -
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 C1853365 COL3A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2243125, 10388642 -