DisGeNET - a database of gene-disease associations

Short palm, C1843108

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:	22856
Gene Symbol:	CHSY1

CHSY1

0.100

Biomarker

phenotype

HPO

Entrez Id:	25942
Gene Symbol:	SIN3A

SIN3A

0.100

Biomarker

phenotype

HPO

Entrez Id:	79641
Gene Symbol:	ROGDI

ROGDI

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	9321
Gene Symbol:	TRIP11

TRIP11

0.100

Biomarker

phenotype

HPO

Entrez Id:	10743
Gene Symbol:	RAI1

RAI1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	2239
Gene Symbol:	GPC4

GPC4

0.100

Biomarker

phenotype

HPO

Entrez Id:	54551
Gene Symbol:	MAGEL2

MAGEL2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	818
Gene Symbol:	CAMK2G

CAMK2G

0.100

Biomarker

phenotype

HPO

Entrez Id:	79659
Gene Symbol:	DYNC2H1

DYNC2H1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8450
Gene Symbol:	CUL4B

CUL4B

0.100

Biomarker

phenotype

HPO

Entrez Id:	9791
Gene Symbol:	PTDSS1

PTDSS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	791114
Gene Symbol:	PWRN1

PWRN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23522
Gene Symbol:	KAT6B

KAT6B

0.100

Biomarker

phenotype

HPO

Entrez Id:	1301
Gene Symbol:	COL11A1

COL11A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10743
Gene Symbol:	RAI1

RAI1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8200
Gene Symbol:	GDF5

GDF5

0.100

Biomarker

phenotype

HPO

Entrez Id:	25839
Gene Symbol:	COG4

COG4

0.100

Biomarker

phenotype

HPO

Entrez Id:	5745
Gene Symbol:	PTH1R

PTH1R

0.100

Biomarker

phenotype

HPO

Entrez Id:	2121
Gene Symbol:	EVC

EVC

0.100

Biomarker

phenotype

HPO

Entrez Id:	7681
Gene Symbol:	MKRN3

MKRN3

0.100

Biomarker

phenotype

HPO

Entrez Id:	55012
Gene Symbol:	PPP2R3C

PPP2R3C

0.100

Biomarker

phenotype

HPO

Entrez Id:	55777
Gene Symbol:	MBD5

MBD5

0.100

Biomarker

phenotype

HPO

Entrez Id:	2719
Gene Symbol:	GPC3

GPC3

0.100

Biomarker

phenotype

HPO

Entrez Id:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

0.100

Biomarker

phenotype

HPO