DisGeNET - a database of gene-disease associations

INPPL1, inositol polyphosphate phosphatase like 1, 3636

N. diseases: 133; N. variants: 16

Disease: Opsismodysplasia ×

Variant: rs397514508 ×

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:

rs397514508

Entrez Id:	3636
Gene Symbol:	INPPL1

INPPL1

CUI:	C0432219
Disease:

Opsismodysplasia

0.700

CausalMutation

CLINVAR

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

23273567

2013