Alport syndrome, x-linked

Disease Term Disease ID Gene Symbol Classification References Source
Alport Syndrome, X-Linked C1567742 COL4A5 Causal Pathogenic evidence from ClinVar 14514738 ClinVar
COL4A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12631109, 24052634 -
COL4A4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24052634 -
MYH9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10973259 -
NPHS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26138234 -
X-linked Alport syndrome 88917 COL4A5 Causal Pathogenic evidence from ClinVar - ClinVar
X-linked Alport syndrome-diffuse leiomyomatosis 1018 COL4A5 Causal Pathogenic evidence from ClinVar - ClinVar
COL4A6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -