DisGeNET - a database of gene-disease associations

INPP5E, inositol polyphosphate-5-phosphatase E, 56623

N. diseases: 153; N. variants: 25

Disease: Skeletal dysplasia ×

Variant: rs121918130 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918130

rs121918130

Entrez Id:	56623
Gene Symbol:	INPP5E

INPP5E

CUI:	C0410528
Disease:

Skeletal dysplasia

A

0.700

CausalMutation

CLINVAR