Alport syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| ALPORT SYNDROME | COL4A3 | Causal | GWAS catalog | |||
| COL4A4 | Causal | GWAS catalog | ||||
| COL4A5 | Causal | GWAS catalog, ClinGen | ||||
| ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE | COL4A3 | Causal | GWAS catalog | |||
| ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME | AMMECR1 | Unknown | GWAS catalog | — | ||
| AUTOSOMAL DOMINANT ALPORT SYNDROME | COL4A3 | Causal | ClinVar, GenCC, Orphanet | |||
| COL4A4 | Causal | GWAS catalog, Orphanet | ||||
| AUTOSOMAL RECESSIVE ALPORT SYNDROME | COL4A3 | Causal | GenCC, Orphanet, ClinGen | |||
| COL4A4 | Causal | ClinVar, GenCC, Orphanet, ClinGen |