DisGeNET - a database of gene-disease associations

JOUBERT SYNDROME 19, C3553846

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23090
Gene Symbol:	ZNF423

ZNF423

0.300

Biomarker

disease

GENOMICS_ENGLAND

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

2012

Entrez Id:	23090
Gene Symbol:	ZNF423

ZNF423

0.300

Biomarker

disease

GENOMICS_ENGLAND