DisGeNET - a database of gene-disease associations

Hypoplastic feet, C1848673

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:	23287
Gene Symbol:	AGTPBP1

AGTPBP1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	171023
Gene Symbol:	ASXL1

ASXL1

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:	582
Gene Symbol:	BBS1

BBS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	633
Gene Symbol:	BGN

BGN

0.100

Biomarker

phenotype

HPO

Entrez Id:	650
Gene Symbol:	BMP2

BMP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	658
Gene Symbol:	BMPR1B

BMPR1B

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:	79140
Gene Symbol:	CCDC28B

CCDC28B

0.100

Biomarker

phenotype

HPO

Entrez Id:	57003
Gene Symbol:	CCDC47

CCDC47

0.100

Biomarker

phenotype

HPO

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

0.100

GeneticVariation

phenotype

CLINVAR

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

2017

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

0.100

Biomarker

phenotype

HPO

Entrez Id:	1062
Gene Symbol:	CENPE

CENPE

0.100

Biomarker

phenotype

HPO

Entrez Id:	153241
Gene Symbol:	CEP120

CEP120

0.100

Biomarker

phenotype

HPO

Entrez Id:	10087
Gene Symbol:	CERT1

CERT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	22856
Gene Symbol:	CHSY1

CHSY1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9382
Gene Symbol:	COG1

COG1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1301
Gene Symbol:	COL11A1

COL11A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1281
Gene Symbol:	COL3A1

COL3A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1311
Gene Symbol:	COMP

COMP

0.100

Biomarker

phenotype

HPO