DisGeNET - a database of gene-disease associations

Thin skin, C0423757

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:	25
Gene Symbol:	ABL1

ABL1

0.100

CausalMutation

phenotype

CLINVAR

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

2017

Entrez Id:	25
Gene Symbol:	ABL1

ABL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9509
Gene Symbol:	ADAMTS2

ADAMTS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9049
Gene Symbol:	AIP

AIP

0.100

Biomarker

phenotype

HPO

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	375
Gene Symbol:	ARF1

ARF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10564
Gene Symbol:	ARFGEF2

ARFGEF2

0.100

Biomarker

phenotype

HPO

Entrez Id:	79798
Gene Symbol:	ARMC5

ARMC5

0.100

Biomarker

phenotype

HPO

Entrez Id:	11285
Gene Symbol:	B4GALT7

B4GALT7

0.100

Biomarker

phenotype

HPO

Entrez Id:	715
Gene Symbol:	C1R

C1R

0.100

Biomarker

phenotype

HPO

Entrez Id:	64072
Gene Symbol:	CDH23

CDH23

0.100

Biomarker

phenotype

HPO

Entrez Id:	1147
Gene Symbol:	CHUK

CHUK

0.100

Biomarker

phenotype

HPO

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1281
Gene Symbol:	COL3A1

COL3A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1289
Gene Symbol:	COL5A1

COL5A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1290
Gene Symbol:	COL5A2

COL5A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1371
Gene Symbol:	CPOX

CPOX

0.100

Biomarker

phenotype

HPO

Entrez Id:	80169
Gene Symbol:	CTC1

CTC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1643
Gene Symbol:	DDB2

DDB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1896
Gene Symbol:	EDA

EDA

0.100

Biomarker

phenotype

HPO

Entrez Id:	1896
Gene Symbol:	EDA

EDA

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	10913
Gene Symbol:	EDAR

EDAR

0.100

Biomarker

phenotype

HPO

Entrez Id:	128178
Gene Symbol:	EDARADD

EDARADD

0.100

Biomarker

phenotype

HPO