DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT ×

Gene: COL4A4 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1286
Gene Symbol:	COL4A4

COL4A4

CUI:	C4746547
Disease:	ALPORT SYNDROME 3, AUTOSOMAL DOMINANT

ALPORT SYNDROME 3, AUTOSOMAL DOMINANT

0.100

GeneticVariation

CLINVAR

Entrez Id:	1286
Gene Symbol:	COL4A4

COL4A4

CUI:	C4746547
Disease:	ALPORT SYNDROME 3, AUTOSOMAL DOMINANT

ALPORT SYNDROME 3, AUTOSOMAL DOMINANT

0.100

CausalMutation

CLINVAR