Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
ALPORT SYNDROME	MONDO:0018965	COL4A3	Causal	14507670 14633121 14871398 16775036 24262798 26346198 28495876 32743880 33532864 33718859 33838161 7987396	GWAS catalog
		COL4A4	Causal	10534397 11961012 21196518 24522496 31892712 33532864 7987396 9195222 9792860	GWAS catalog
		COL4A5	Causal	2349482 1474765 8651296	GWAS catalog
ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE	MONDO:0957811	COL4A3	Causal	7987396 7633417 9792860 7987301 7780062 7783419 17726307 18436078 23297803 23927549 26194984 28509228 28856578 29946535 31925849 33524082 34888854	GWAS catalog
ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME	MONDO:0010263	AMMECR1	Unknown	27811305	GWAS catalog
AUTOSOMAL DOMINANT ALPORT SYNDROME	88918 MONDO:0007086	COL4A3	Causal	20301386	ClinVar GenCC Orphanet
AUTOSOMAL DOMINANT ALPORT SYNDROME	88918 MONDO:0007086	COL4A4	Causal	11572889 15086897 19129241 20301386 9269635	GWAS catalog Orphanet
AUTOSOMAL RECESSIVE ALPORT SYNDROME	88919 MONDO:0008762	COL4A3	Causal	20301386	GenCC Orphanet
AUTOSOMAL RECESSIVE ALPORT SYNDROME	88919 MONDO:0008762	COL4A4	Causal	20301386	ClinVar GenCC Orphanet

Alport syndrome