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:	9719
Gene Symbol:	ADAMTSL2

ADAMTSL2

0.100

Biomarker

phenotype

HPO

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	118429
Gene Symbol:	ANTXR2

ANTXR2

0.100

Biomarker

phenotype

HPO

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:	538
Gene Symbol:	ATP7A

ATP7A

0.100

Biomarker

phenotype

HPO

Entrez Id:	126792
Gene Symbol:	B3GALT6

B3GALT6

0.100

Biomarker

phenotype

HPO

Entrez Id:	145173
Gene Symbol:	B3GLCT

B3GLCT

0.100

Biomarker

phenotype

HPO

Entrez Id:	613
Gene Symbol:	BCR

BCR

0.100

Biomarker

phenotype

HPO

Entrez Id:	633
Gene Symbol:	BGN

BGN

0.100

Biomarker

phenotype

HPO

Entrez Id:	727857
Gene Symbol:	BHLHA9

BHLHA9

0.100

Biomarker

phenotype

HPO

Entrez Id:	818
Gene Symbol:	CAMK2G

CAMK2G

0.100

Biomarker

phenotype

HPO

Entrez Id:	147372
Gene Symbol:	CCBE1

CCBE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

0.100

Biomarker

phenotype

HPO

Entrez Id:	22856
Gene Symbol:	CHSY1

CHSY1

0.100

Biomarker

phenotype

HPO

Entrez Id:	25839
Gene Symbol:	COG4

COG4

0.100

Biomarker

phenotype

HPO

Entrez Id:	1301
Gene Symbol:	COL11A1

COL11A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1302
Gene Symbol:	COL11A2

COL11A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1298
Gene Symbol:	COL9A2

COL9A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1311
Gene Symbol:	COMP

COMP

0.100

Biomarker

phenotype

HPO

Entrez Id:	1399
Gene Symbol:	CRKL

CRKL

0.100

Biomarker

phenotype

HPO

Entrez Id:	9244
Gene Symbol:	CRLF1

CRLF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8450
Gene Symbol:	CUL4B

CUL4B

0.100

Biomarker

phenotype

HPO

Entrez Id:	8813
Gene Symbol:	DPM1

DPM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1855
Gene Symbol:	DVL1

DVL1

0.100

Biomarker

phenotype

HPO