DisGeNET - a database of gene-disease associations

Contracture of tendo achilles, C0410264

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:	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:	2273
Gene Symbol:	FHL1

FHL1

0.100

Biomarker

disease

HPO

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

0.100

Biomarker

disease

HPO

Entrez Id:	2010
Gene Symbol:	EMD

EMD

0.100

Biomarker

disease

HPO

Entrez Id:	339855
Gene Symbol:	KY

KY

0.100

Biomarker

disease

HPO

Entrez Id:	3094
Gene Symbol:	HINT1

HINT1

0.100

Biomarker

disease

HPO

Entrez Id:	203859
Gene Symbol:	ANO5

ANO5

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	6445
Gene Symbol:	SGCG

SGCG

0.100

Biomarker

disease

HPO

Entrez Id:	4556
Gene Symbol:	TRNE

TRNE

0.100

Biomarker

disease

HPO

Entrez Id:	6442
Gene Symbol:	SGCA

SGCA

0.100

Biomarker

disease

HPO

Entrez Id:	2705
Gene Symbol:	GJB1

GJB1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	4976
Gene Symbol:	OPA1

OPA1

0.100

Biomarker

disease

HPO

Entrez Id:	1292
Gene Symbol:	COL6A2

COL6A2

0.100

Biomarker

disease

HPO

Entrez Id:	55768
Gene Symbol:	NGLY1

NGLY1

0.100

Biomarker

disease

HPO

Entrez Id:	4000
Gene Symbol:	LMNA

LMNA

0.100

Biomarker

disease

HPO

Entrez Id:	79188
Gene Symbol:	TMEM43

TMEM43

0.100

Biomarker

disease

HPO

Entrez Id:	23345
Gene Symbol:	SYNE1

SYNE1

0.100

Biomarker

disease

HPO

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

0.100

Biomarker

disease

HPO

Entrez Id:	10585
Gene Symbol:	POMT1

POMT1

0.100

Biomarker

disease

HPO

Entrez Id:	1180
Gene Symbol:	CLCN1

CLCN1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	26090
Gene Symbol:	ABHD12

ABHD12

0.100

Biomarker

disease

HPO

Entrez Id:	9499
Gene Symbol:	MYOT

MYOT

0.100

Biomarker

disease

HPO

Entrez Id:	57679
Gene Symbol:	ALS2

ALS2

0.100

Biomarker

disease

HPO

Entrez Id:	9215
Gene Symbol:	LARGE1

LARGE1

0.100

Biomarker

disease

HPO