DisGeNET - a database of gene-disease associations

Decreased liver function, C0232744

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:	513
Gene Symbol:	ATP5F1D

ATP5F1D

0.100

CausalMutation

phenotype

CLINVAR

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

2018

Entrez Id:	6341
Gene Symbol:	SCO1

SCO1

0.100

Biomarker

phenotype

HPO

Entrez Id:	84334
Gene Symbol:	COA8

COA8

0.100

Biomarker

phenotype

HPO

Entrez Id:	54931
Gene Symbol:	TRMT10C

TRMT10C

0.100

Biomarker

phenotype

HPO

Entrez Id:	5256
Gene Symbol:	PHKA2

PHKA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	6888
Gene Symbol:	TALDO1

TALDO1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1340
Gene Symbol:	COX6B1

COX6B1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	34
Gene Symbol:	ACADM

ACADM

0.100

Biomarker

phenotype

HPO

Entrez Id:	2592
Gene Symbol:	GALT

GALT

0.100

Biomarker

phenotype

HPO

Entrez Id:	23395
Gene Symbol:	LARS2

LARS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	55005
Gene Symbol:	RMND1

RMND1

0.100

Biomarker

phenotype

HPO

Entrez Id:	100131801
Gene Symbol:	PET100

PET100

0.100

Biomarker

phenotype

HPO

Entrez Id:	8772
Gene Symbol:	FADD

FADD

0.100

Biomarker

phenotype

HPO

Entrez Id:	79053
Gene Symbol:	ALG8

ALG8

0.100

Biomarker

phenotype

HPO

Entrez Id:	4720
Gene Symbol:	NDUFS2

NDUFS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2235
Gene Symbol:	FECH

FECH

0.100

Biomarker

phenotype

HPO

Entrez Id:	7385
Gene Symbol:	UQCRC2

UQCRC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	11274
Gene Symbol:	USP18

USP18

0.100

Biomarker

phenotype

HPO

Entrez Id:	132
Gene Symbol:	ADK

ADK

0.100

Biomarker

phenotype

HPO

Entrez Id:	22796
Gene Symbol:	COG2

COG2

0.100

Biomarker

phenotype

HPO

Entrez Id:	5192
Gene Symbol:	PEX10

PEX10

0.100

Biomarker

phenotype

HPO

Entrez Id:	617
Gene Symbol:	BCS1L

BCS1L

0.100

Biomarker

phenotype

HPO

Entrez Id:	5828
Gene Symbol:	PEX2

PEX2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4570
Gene Symbol:	TRNN

TRNN

0.100

Biomarker

phenotype

HPO