DisGeNET - a database of gene-disease associations

INPP5E, inositol polyphosphate-5-phosphatase E, 56623

N. diseases: 153; N. variants: 25

Disease: Fibrosis, Liver ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0239946
Disease:	Fibrosis, Liver

Fibrosis, Liver

0.110

GeneticVariation

disease

BEFREE

A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs.

2018

CUI:	C0239946
Disease:	Fibrosis, Liver

Fibrosis, Liver

0.110

Biomarker

disease

HPO