DisGeNET - a database of gene-disease associations

Clinodactyly of the 5th finger, C1850049

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:	672
Gene Symbol:	BRCA1

BRCA1

0.100

Biomarker

disease

HPO

Entrez Id:	675
Gene Symbol:	BRCA2

BRCA2

0.100

Biomarker

disease

HPO

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

0.100

Biomarker

disease

HPO

Entrez Id:	699
Gene Symbol:	BUB1

BUB1

0.100

Biomarker

disease

HPO

Entrez Id:	701
Gene Symbol:	BUB1B

BUB1B

0.100

Biomarker

disease

HPO

Entrez Id:	9184
Gene Symbol:	BUB3

BUB3

0.100

Biomarker

disease

HPO

Entrez Id:	113246
Gene Symbol:	C12orf57

C12orf57

0.100

Biomarker

disease

HPO

Entrez Id:	124583
Gene Symbol:	CANT1

CANT1

0.100

Biomarker

disease

HPO

Entrez Id:	85478
Gene Symbol:	CCDC65

CCDC65

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	83987
Gene Symbol:	CCDC8

CCDC8

0.100

Biomarker

disease

HPO

Entrez Id:	92002
Gene Symbol:	CCNQ

CCNQ

0.100

Biomarker

disease

HPO

Entrez Id:	10225
Gene Symbol:	CD96

CD96

0.100

Biomarker

disease

HPO

Entrez Id:	8318
Gene Symbol:	CDC45

CDC45

0.100

Biomarker

disease

HPO

Entrez Id:	990
Gene Symbol:	CDC6

CDC6

0.100

Biomarker

disease

HPO

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

0.100

GeneticVariation

disease

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

disease

HPO

Entrez Id:	81620
Gene Symbol:	CDT1

CDT1

0.100

Biomarker

disease

HPO

Entrez Id:	1062
Gene Symbol:	CENPE

CENPE

0.100

Biomarker

disease

HPO

Entrez Id:	55835
Gene Symbol:	CENPJ

CENPJ

0.100

Biomarker

disease

HPO

Entrez Id:	22995
Gene Symbol:	CEP152

CEP152

0.100

Biomarker

disease

HPO

Entrez Id:	55165
Gene Symbol:	CEP55

CEP55

0.100

Biomarker

disease

HPO

Entrez Id:	9702
Gene Symbol:	CEP57

CEP57

0.100

Biomarker

disease

HPO

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

0.100

Biomarker

disease

HPO

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	1139
Gene Symbol:	CHRNA7

CHRNA7

0.100

Biomarker

disease

HPO