DisGeNET - a database of gene-disease associations

rs267606956, PNKP

N. diseases: 2

Disease: Developmental Disabilities ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Developmental Disabilities

CUI:	C0008073
Disease:	Developmental Disabilities

0.010

GeneticVariation

BEFREE

A mutation on this surface (E326K) causes the hereditary neuro-developmental disorder, MCSZ.

2017