DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Constipation ×

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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:	5979
Gene Symbol:	RET

RET

CUI:	C0009806
Disease:	Constipation

Constipation

0.130

CausalMutation

CLINVAR

Entrez Id:	55023
Gene Symbol:	PHIP

PHIP

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	2904
Gene Symbol:	GRIN2B

GRIN2B

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	3020
Gene Symbol:	H3-3A

H3-3A

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	1291
Gene Symbol:	COL6A1

COL6A1

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	55023
Gene Symbol:	PHIP

PHIP

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

CausalMutation

CLINVAR

Entrez Id:	9772
Gene Symbol:	TMEM94

TMEM94

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

CausalMutation

CLINVAR

Entrez Id:	23221
Gene Symbol:	RHOBTB2

RHOBTB2

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	134728
Gene Symbol:	IRAK1BP1

IRAK1BP1

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

CausalMutation

CLINVAR

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

CausalMutation

CLINVAR

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

CausalMutation

CLINVAR

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

CausalMutation

CLINVAR

Entrez Id:	51322
Gene Symbol:	WAC

WAC

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

CausalMutation

CLINVAR

Entrez Id:	285175
Gene Symbol:	UNC80

UNC80

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	775
Gene Symbol:	CACNA1C

CACNA1C

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	3145
Gene Symbol:	HMBS

HMBS

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

CausalMutation

CLINVAR

Entrez Id:	5888
Gene Symbol:	RAD51

RAD51

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	7703
Gene Symbol:	PCGF2

PCGF2

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	79631
Gene Symbol:	EFL1

EFL1

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	1778
Gene Symbol:	DYNC1H1

DYNC1H1

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

GeneticVariation

CLINVAR

Entrez Id:	253738
Gene Symbol:	EBF3

EBF3

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

CausalMutation

CLINVAR

Entrez Id:	1654
Gene Symbol:	DDX3X

DDX3X

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

CausalMutation

CLINVAR

Entrez Id:	5530
Gene Symbol:	PPP3CA

PPP3CA

CUI:	C0009806
Disease:	Constipation

Constipation

0.100

CausalMutation

CLINVAR