DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Infantile Refsum Disease (disorder) ×

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:	5830
Gene Symbol:	PEX5

PEX5

CUI:	C0282527
Disease:	Infantile Refsum Disease (disorder)

Infantile Refsum Disease (disorder)

0.500

GermlineCausalMutation

ORPHANET

Entrez Id:	5830
Gene Symbol:	PEX5

PEX5

CUI:	C0282527
Disease:	Infantile Refsum Disease (disorder)

Infantile Refsum Disease (disorder)

0.500

Biomarker

GENOMICS_ENGLAND