DisGeNET - a database of gene-disease associations

INPP5K, inositol polyphosphate-5-phosphatase K, 51763

N. diseases: 103; N. variants: 10

Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY ×

Variant: rs761612652 ×

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:

rs761612652

Entrez Id:	51763
Gene Symbol:	INPP5K

INPP5K

CUI:	C4479410
Disease:

MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY

0.800

GeneticVariation

UNIPROT

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

28190456

2017

dbSNP:

rs761612652

Entrez Id:	51763
Gene Symbol:	INPP5K

INPP5K

CUI:	C4479410
Disease:

MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY

0.800

GeneticVariation

UNIPROT

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

28190459

2017

dbSNP:

rs761612652

Entrez Id:	51763
Gene Symbol:	INPP5K

INPP5K

CUI:	C4479410
Disease:

MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY

0.800

CausalMutation

CLINVAR