DisGeNET - a database of gene-disease associations

Neonatal Death, C0410916

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3778
Gene Symbol:	KCNMA1

KCNMA1

0.300

Biomarker

phenotype

CTD_human

Survival and growth of C57BL/6J mice lacking the BK channel, Kcnma1: lower adult body weight occurs together with higher body fat.

2017

Entrez Id:	54908
Gene Symbol:	SPDL1

SPDL1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	54539
Gene Symbol:	NDUFB11

NDUFB11

0.100

Biomarker

phenotype

HPO

Entrez Id:	84892
Gene Symbol:	POMGNT2

POMGNT2

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	1832
Gene Symbol:	DSP

DSP

0.100

Biomarker

phenotype

HPO

Entrez Id:	4577
Gene Symbol:	TRNV

TRNV

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	2733
Gene Symbol:	GLE1

GLE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3339
Gene Symbol:	HSPG2

HSPG2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2592
Gene Symbol:	GALT

GALT

0.100

Biomarker

phenotype

HPO

Entrez Id:	9786
Gene Symbol:	KIAA0586

KIAA0586

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2629
Gene Symbol:	GBA

GBA

0.100

Biomarker

phenotype

HPO

Entrez Id:	2110
Gene Symbol:	ETFDH

ETFDH

0.100

Biomarker

phenotype

HPO

Entrez Id:	3930
Gene Symbol:	LBR

LBR

0.100

Biomarker

phenotype

HPO

Entrez Id:	56975
Gene Symbol:	FAM20C

FAM20C

0.100

Biomarker

phenotype

HPO

Entrez Id:	23396
Gene Symbol:	PIP5K1C

PIP5K1C

0.100

Biomarker

phenotype

HPO

Entrez Id:	2737
Gene Symbol:	GLI3

GLI3

0.100

Biomarker

phenotype

HPO

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

0.100

Biomarker

phenotype

HPO

Entrez Id:	56975
Gene Symbol:	FAM20C

FAM20C

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2317
Gene Symbol:	FLNB

FLNB

0.100

Biomarker

phenotype

HPO

Entrez Id:	2109
Gene Symbol:	ETFB

ETFB

0.100

Biomarker

phenotype

HPO

Entrez Id:	2108
Gene Symbol:	ETFA

ETFA

0.100

Biomarker

phenotype

HPO

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2294
Gene Symbol:	FOXF1

FOXF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	124997
Gene Symbol:	WDR81

WDR81

0.100

GeneticVariation

phenotype

CLINVAR