DisGeNET - a database of gene-disease associations

Clinodactyly, C4551485

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Source: ALL

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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:	6833
Gene Symbol:	ABCC8

ABCC8

0.100

Biomarker

disease

HPO

Entrez Id:	25
Gene Symbol:	ABL1

ABL1

0.300

Biomarker

disease

GENOMICS_ENGLAND

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

2017

Entrez Id:	10195
Gene Symbol:	ALG3

ALG3

0.100

Biomarker

disease

HPO

Entrez Id:	257
Gene Symbol:	ALX3

ALX3

0.100

Biomarker

disease

HPO

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

0.100

Biomarker

disease

HPO

Entrez Id:	196528
Gene Symbol:	ARID2

ARID2

0.100

Biomarker

disease

HPO

Entrez Id:	545
Gene Symbol:	ATR

ATR

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

0.100

Biomarker

disease

HPO

Entrez Id:	79370
Gene Symbol:	BCL2L14

BCL2L14

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	79370
Gene Symbol:	BCL2L14

BCL2L14

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	54880
Gene Symbol:	BCOR

BCOR

0.100

Biomarker

disease

HPO

Entrez Id:	2186
Gene Symbol:	BPTF

BPTF

0.100

Biomarker

disease

HPO

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

Biomarker

disease

HPO

Entrez Id:	672
Gene Symbol:	BRCA1

BRCA1

0.100

Biomarker

disease

HPO

Entrez Id:	8913
Gene Symbol:	CACNA1G

CACNA1G

0.100

Biomarker

disease

HPO

Entrez Id:	28952
Gene Symbol:	CCDC22

CCDC22

0.100

Biomarker

disease

HPO

Entrez Id:	10225
Gene Symbol:	CD96

CD96

0.100

Biomarker

disease

HPO

Entrez Id:	998
Gene Symbol:	CDC42

CDC42

0.100

Biomarker

disease

HPO

Entrez Id:	990
Gene Symbol:	CDC6

CDC6

0.100

Biomarker

disease

HPO

Entrez Id:	999
Gene Symbol:	CDH1

CDH1

0.100

Biomarker

disease

HPO

Entrez Id:	8558
Gene Symbol:	CDK10

CDK10

0.100

Biomarker

disease

HPO

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

0.100

Biomarker

disease

HPO

Entrez Id:	9702
Gene Symbol:	CEP57

CEP57

0.100

Biomarker

disease

HPO

Entrez Id:	22856
Gene Symbol:	CHSY1

CHSY1

0.100

Biomarker

disease

HPO

Entrez Id:	23529
Gene Symbol:	CLCF1

CLCF1

0.100

Biomarker

disease

HPO