Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		0.600 GeneticVariation CLINVAR Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 30828794

2019
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		0.600 GeneticVariation CLINVAR The clinical spectrum of type IV collagen mutations. 9195222

1997
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		0.600 CausalMutation CLINVAR