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:	64093
Gene Symbol:	SMOC1

SMOC1

0.100

Biomarker

disease

HPO

Entrez Id:	9126
Gene Symbol:	SMC3

SMC3

0.100

Biomarker

disease

HPO

Entrez Id:	8243
Gene Symbol:	SMC1A

SMC1A

0.100

Biomarker

disease

HPO

Entrez Id:	84464
Gene Symbol:	SLX4

SLX4

0.100

Biomarker

disease

HPO

Entrez Id:	84679
Gene Symbol:	SLC9A7

SLC9A7

0.100

Biomarker

disease

HPO

Entrez Id:	10479
Gene Symbol:	SLC9A6

SLC9A6

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	81031
Gene Symbol:	SLC2A10

SLC2A10

0.100

Biomarker

disease

HPO

Entrez Id:	1836
Gene Symbol:	SLC26A2

SLC26A2

0.100

Biomarker

disease

HPO

Entrez Id:	9990
Gene Symbol:	SLC12A6

SLC12A6

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	6497
Gene Symbol:	SKI

SKI

0.100

Biomarker

disease

HPO

Entrez Id:	25942
Gene Symbol:	SIN3A

SIN3A

0.100

CausalMutation

disease

CLINVAR

Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.

2019

Entrez Id:	6492
Gene Symbol:	SIM1

SIM1

0.100

Biomarker

disease

HPO

Entrez Id:	6473
Gene Symbol:	SHOX

SHOX

0.100

Biomarker

disease

HPO

Entrez Id:	6469
Gene Symbol:	SHH

SHH

0.100

Biomarker

disease

HPO

Entrez Id:	85358
Gene Symbol:	SHANK3

SHANK3

0.100

Biomarker

disease

HPO

Entrez Id:	285590
Gene Symbol:	SH3PXD2B

SH3PXD2B

0.100

Biomarker

disease

HPO

Entrez Id:	55209
Gene Symbol:	SETD5

SETD5

0.100

Biomarker

disease

HPO

Entrez Id:	9723
Gene Symbol:	SEMA3E

SEMA3E

0.100

Biomarker

disease

HPO

Entrez Id:	23314
Gene Symbol:	SATB2

SATB2

0.100

Biomarker

disease

HPO

Entrez Id:	23314
Gene Symbol:	SATB2

SATB2

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	6299
Gene Symbol:	SALL1

SALL1

0.100

Biomarker

disease

HPO

Entrez Id:	860
Gene Symbol:	RUNX2

RUNX2

0.100

Biomarker

disease

HPO

Entrez Id:	6237
Gene Symbol:	RRAS

RRAS

0.100

Biomarker

disease

HPO

Entrez Id:	4920
Gene Symbol:	ROR2

ROR2

0.100

Biomarker

disease

HPO

Entrez Id:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

0.100

Biomarker

disease

HPO