DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Apnea ×

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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:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0003578
Disease:	Apnea

Apnea

0.150

CausalMutation

CLINVAR

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C0003578
Disease:	Apnea

Apnea

0.110

GeneticVariation

CLINVAR

Entrez Id:	9786
Gene Symbol:	KIAA0586

KIAA0586

CUI:	C0003578
Disease:	Apnea

Apnea

0.100

CausalMutation

CLINVAR

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

2016

Entrez Id:	113278
Gene Symbol:	SLC52A3

SLC52A3

CUI:	C0003578
Disease:	Apnea

Apnea

0.100

GeneticVariation

CLINVAR

Entrez Id:	9320
Gene Symbol:	TRIP12

TRIP12

CUI:	C0003578
Disease:	Apnea

Apnea

0.100

CausalMutation

CLINVAR

Entrez Id:	816
Gene Symbol:	CAMK2B

CAMK2B

CUI:	C0003578
Disease:	Apnea

Apnea

0.100

GeneticVariation

CLINVAR

Entrez Id:	79053
Gene Symbol:	ALG8

ALG8

CUI:	C0003578
Disease:	Apnea

Apnea

0.100

CausalMutation

CLINVAR