DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Diaphragmatic Eventration ×

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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:	5290
Gene Symbol:	PIK3CA

PIK3CA

CUI:	C0011981
Disease:	Diaphragmatic Eventration

Diaphragmatic Eventration

0.100

CausalMutation

CLINVAR

Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.

31568861

2019

Entrez Id:	1123
Gene Symbol:	CHN1

CHN1

CUI:	C0011981
Disease:	Diaphragmatic Eventration

Diaphragmatic Eventration

0.100

GeneticVariation

CLINVAR

Entrez Id:	2737
Gene Symbol:	GLI3

GLI3

CUI:	C0011981
Disease:	Diaphragmatic Eventration

Diaphragmatic Eventration

0.100

SusceptibilityMutation

CLINVAR

Entrez Id:	80144
Gene Symbol:	FRAS1

FRAS1

CUI:	C0011981
Disease:	Diaphragmatic Eventration

Diaphragmatic Eventration

0.100

SusceptibilityMutation

CLINVAR

Entrez Id:	7466
Gene Symbol:	WFS1

WFS1

CUI:	C0011981
Disease:	Diaphragmatic Eventration

Diaphragmatic Eventration

0.100

CausalMutation

CLINVAR

Entrez Id:	341640
Gene Symbol:	FREM2

FREM2

CUI:	C0011981
Disease:	Diaphragmatic Eventration

Diaphragmatic Eventration

0.100

SusceptibilityMutation

CLINVAR