Disease Term Disease ID Gene Symbol Classification References Source
Hematuria, Benign Familial C0241908 COL4A3 Causal Pathogenic evidence from ClinVar 9195222, 11961012, 24052634, 25381091 ClinVar
COL4A5 Causal Pathogenic evidence from ClinVar 14514738 ClinVar
COL4A4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8787673, 11961012, 12631110, 24052634 -
MFF-DT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9195222 -
NPHS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26138234 -
Familial hematuria C1305904 COL4A5 Causal Pathogenic evidence from ClinVar - ClinVar
LAMA5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -