DisGeNET - a database of gene-disease associations

Skeletal muscle atrophy, C0541794

Source: ALL

Results per page

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:	5428
Gene Symbol:	POLG

POLG

0.100

CausalMutation

phenotype

CLINVAR

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.

20883824

2011

Entrez Id:	5428
Gene Symbol:	POLG

POLG

0.100

CausalMutation

phenotype

CLINVAR

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

20142534

2010

Entrez Id:	3178
Gene Symbol:	HNRNPA1

HNRNPA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	131377
Gene Symbol:	KLHL40

KLHL40

0.100

Biomarker

phenotype

HPO

Entrez Id:	8988
Gene Symbol:	HSPB3

HSPB3

0.100

Biomarker

phenotype

HPO

Entrez Id:	4578
Gene Symbol:	TRNW

TRNW

0.100

Biomarker

phenotype

HPO

Entrez Id:	54820
Gene Symbol:	NDE1

NDE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

0.100

Biomarker

phenotype

HPO

Entrez Id:	4358
Gene Symbol:	MPV17

MPV17

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	23592
Gene Symbol:	LEMD3

LEMD3

0.100

Biomarker

phenotype

HPO

Entrez Id:	2673
Gene Symbol:	GFPT1

GFPT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79581
Gene Symbol:	SLC52A2

SLC52A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2218
Gene Symbol:	FKTN

FKTN

0.100

Biomarker

phenotype

HPO

Entrez Id:	158
Gene Symbol:	ADSL

ADSL

0.100

Biomarker

phenotype

HPO

Entrez Id:	28982
Gene Symbol:	FLVCR1

FLVCR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4514
Gene Symbol:	COX3

COX3

0.100

Biomarker

phenotype

HPO

Entrez Id:	4758
Gene Symbol:	NEU1

NEU1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	11284
Gene Symbol:	PNKP

PNKP

0.100

Biomarker

phenotype

HPO

Entrez Id:	123606
Gene Symbol:	NIPA1

NIPA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	55773
Gene Symbol:	TBC1D23

TBC1D23

0.100

Biomarker

phenotype

HPO

Entrez Id:	4534
Gene Symbol:	MTM1

MTM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	166379
Gene Symbol:	BBS12

BBS12

0.100

Biomarker

phenotype

HPO

Entrez Id:	9990
Gene Symbol:	SLC12A6

SLC12A6

0.100

Biomarker

phenotype

HPO