DisGeNET - a database of gene-disease associations

Increased tendency to bruise, C0423798

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:	368
Gene Symbol:	ABCC6

ABCC6

0.100

Biomarker

phenotype

HPO

Entrez Id:	59
Gene Symbol:	ACTA2

ACTA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9509
Gene Symbol:	ADAMTS2

ADAMTS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	165
Gene Symbol:	AEBP1

AEBP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	165
Gene Symbol:	AEBP1

AEBP1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	9049
Gene Symbol:	AIP

AIP

0.100

Biomarker

phenotype

HPO

Entrez Id:	22852
Gene Symbol:	ANKRD26

ANKRD26

0.100

Biomarker

phenotype

HPO

Entrez Id:	79798
Gene Symbol:	ARMC5

ARMC5

0.100

Biomarker

phenotype

HPO

Entrez Id:	538
Gene Symbol:	ATP7A

ATP7A

0.100

Biomarker

phenotype

HPO

Entrez Id:	540
Gene Symbol:	ATP7B

ATP7B

0.100

Biomarker

phenotype

HPO

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

0.100

Biomarker

phenotype

HPO

Entrez Id:	54880
Gene Symbol:	BCOR

BCOR

0.100

Biomarker

phenotype

HPO

Entrez Id:	388552
Gene Symbol:	BLOC1S3

BLOC1S3

0.100

Biomarker

phenotype

HPO

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

GeneticVariation

phenotype

CLINVAR

Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

2008

Entrez Id:	715
Gene Symbol:	C1R

C1R

0.100

Biomarker

phenotype

HPO

Entrez Id:	716
Gene Symbol:	C1S

C1S

0.100

Biomarker

phenotype

HPO

Entrez Id:	843
Gene Symbol:	CASP10

CASP10

0.100

Biomarker

phenotype

HPO

Entrez Id:	64072
Gene Symbol:	CDH23

CDH23

0.100

Biomarker

phenotype

HPO

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	113189
Gene Symbol:	CHST14

CHST14

0.100

Biomarker

phenotype

HPO

Entrez Id:	1186
Gene Symbol:	CLCN7

CLCN7

0.100

Biomarker

phenotype

HPO

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1281
Gene Symbol:	COL3A1

COL3A1

0.100

Biomarker

phenotype

HPO