DisGeNET - a database of gene-disease associations

Hydranencephaly and Abnormal Genitalia, C1846172

Gene: ARX ×

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:	170302
Gene Symbol:	ARX

ARX

0.600

Biomarker

disease

GENOMICS_ENGLAND

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

2004

Entrez Id:	170302
Gene Symbol:	ARX

ARX

0.600

CausalMutation

disease

CLINVAR

Entrez Id:	170302
Gene Symbol:	ARX

ARX

0.600

Biomarker

disease

CTD_human