DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Chronic diarrhea ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2186
Gene Symbol:	BPTF

BPTF

CUI:	C0401151
Disease:	Chronic diarrhea

Chronic diarrhea

0.100

GeneticVariation

CLINVAR

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

2017

Entrez Id:	7482
Gene Symbol:	WNT2B

WNT2B

CUI:	C0401151
Disease:	Chronic diarrhea

Chronic diarrhea

0.100

CausalMutation

CLINVAR

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C0401151
Disease:	Chronic diarrhea

Chronic diarrhea

0.100

CausalMutation

CLINVAR

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

CUI:	C0401151
Disease:	Chronic diarrhea

Chronic diarrhea

0.100

CausalMutation

CLINVAR

Entrez Id:	4669
Gene Symbol:	NAGLU

NAGLU

CUI:	C0401151
Disease:	Chronic diarrhea

Chronic diarrhea

0.100

CausalMutation

CLINVAR

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0401151
Disease:	Chronic diarrhea

Chronic diarrhea

0.100

CausalMutation

CLINVAR