DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Umbilical hernia ×

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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:	64324
Gene Symbol:	NSD1

NSD1

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

GeneticVariation

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

26938784

2016

Entrez Id:	51053
Gene Symbol:	GMNN

GMNN

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

CausalMutation

CLINVAR

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

26637980

2015

Entrez Id:	8425
Gene Symbol:	LTBP4

LTBP4

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

CausalMutation

CLINVAR

Entrez Id:	101929328
Gene Symbol:	KCNMA1-AS1

KCNMA1-AS1

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

CausalMutation

CLINVAR

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

CausalMutation

CLINVAR

Entrez Id:	2737
Gene Symbol:	GLI3

GLI3

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

SusceptibilityMutation

CLINVAR

Entrez Id:	55904
Gene Symbol:	KMT2E

KMT2E

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

GeneticVariation

CLINVAR

Entrez Id:	86
Gene Symbol:	ACTL6A

ACTL6A

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

GeneticVariation

CLINVAR

Entrez Id:	79158
Gene Symbol:	GNPTAB

GNPTAB

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

GeneticVariation

CLINVAR

Entrez Id:	54453
Gene Symbol:	RIN2

RIN2

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

GeneticVariation

CLINVAR

Entrez Id:	165
Gene Symbol:	AEBP1

AEBP1

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

CausalMutation

CLINVAR

Entrez Id:	6654
Gene Symbol:	SOS1

SOS1

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

CausalMutation

CLINVAR

Entrez Id:	5351
Gene Symbol:	PLOD1

PLOD1

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

CausalMutation

CLINVAR

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

CausalMutation

CLINVAR

Entrez Id:	341640
Gene Symbol:	FREM2

FREM2

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

SusceptibilityMutation

CLINVAR

Entrez Id:	80144
Gene Symbol:	FRAS1

FRAS1

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

SusceptibilityMutation

CLINVAR

Entrez Id:	3778
Gene Symbol:	KCNMA1

KCNMA1

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.100

CausalMutation

CLINVAR