DisGeNET - a database of gene-disease associations

Disproportionate short stature, C0878659

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:	9321
Gene Symbol:	TRIP11

TRIP11

0.400

CausalMutation

phenotype

CLINVAR

Entrez Id:	4882
Gene Symbol:	NPR2

NPR2

0.400

CausalMutation

phenotype

CLINVAR

Entrez Id:	4322
Gene Symbol:	MMP13

MMP13

0.400

CausalMutation

phenotype

CLINVAR

Entrez Id:	3930
Gene Symbol:	LBR

LBR

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2778
Gene Symbol:	GNAS

GNAS

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

0.400

Biomarker

phenotype

HPO

Entrez Id:	4882
Gene Symbol:	NPR2

NPR2

0.400

Biomarker

phenotype

HPO

Entrez Id:	3549
Gene Symbol:	IHH

IHH

0.400

Biomarker

phenotype

HPO

Entrez Id:	5116
Gene Symbol:	PCNT

PCNT

0.400

Biomarker

phenotype

HPO

Entrez Id:	1836
Gene Symbol:	SLC26A2

SLC26A2

0.400

Biomarker

phenotype

HPO

Entrez Id:	4322
Gene Symbol:	MMP13

MMP13

0.400

Biomarker

phenotype

HPO

Entrez Id:	2137
Gene Symbol:	EXTL3

EXTL3

0.100

Biomarker

phenotype

HPO

Entrez Id:	25886
Gene Symbol:	POC1A

POC1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

0.100

Biomarker

phenotype

HPO

Entrez Id:	84068
Gene Symbol:	SLC10A7

SLC10A7

0.100

Biomarker

phenotype

HPO

Entrez Id:	6399
Gene Symbol:	TRAPPC2

TRAPPC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	65992
Gene Symbol:	DDRGK1

DDRGK1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7476
Gene Symbol:	WNT7A

WNT7A

0.100

Biomarker

phenotype

HPO

Entrez Id:	3549
Gene Symbol:	IHH

IHH

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

Entrez Id:	9321
Gene Symbol:	TRIP11

TRIP11

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

Entrez Id:	4322
Gene Symbol:	MMP13

MMP13

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

Entrez Id:	1836
Gene Symbol:	SLC26A2

SLC26A2

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

Entrez Id:	5116
Gene Symbol:	PCNT

PCNT

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

Entrez Id:	4882
Gene Symbol:	NPR2

NPR2

0.400

Biomarker

phenotype

GENOMICS_ENGLAND