DisGeNET - a database of gene-disease associations

INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD, C4479517

Source: ALL

Results per page

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8493
Gene Symbol:	PPM1D

PPM1D

0.600

Biomarker

disease

GENOMICS_ENGLAND

Genome sequencing identifies major causes of severe intellectual disability.

2014

Entrez Id:	8493
Gene Symbol:	PPM1D

PPM1D

0.600

GeneticVariation

disease

CLINVAR

Entrez Id:	8493
Gene Symbol:	PPM1D

PPM1D

0.600

CausalMutation

disease

CLINVAR

Entrez Id:	8493
Gene Symbol:	PPM1D

PPM1D

0.600

Biomarker

disease

CTD_human