DisGeNET - a database of gene-disease associations

Short thorax, C0426789

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Source: ALL

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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:	176
Gene Symbol:	ACAN

ACAN

0.100

Biomarker

phenotype

HPO

Entrez Id:	171023
Gene Symbol:	ASXL1

ASXL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	168667
Gene Symbol:	BMPER

BMPER

0.100

Biomarker

phenotype

HPO

Entrez Id:	83987
Gene Symbol:	CCDC8

CCDC8

0.100

Biomarker

phenotype

HPO

Entrez Id:	153241
Gene Symbol:	CEP120

CEP120

0.100

Biomarker

phenotype

HPO

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9820
Gene Symbol:	CUL7

CUL7

0.100

Biomarker

phenotype

HPO

Entrez Id:	9820
Gene Symbol:	CUL7

CUL7

0.100

GeneticVariation

phenotype

CLINVAR

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

2019

Entrez Id:	65992
Gene Symbol:	DDRGK1

DDRGK1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10683
Gene Symbol:	DLL3

DLL3

0.100

Biomarker

phenotype

HPO

Entrez Id:	134218
Gene Symbol:	DNAJC21

DNAJC21

0.100

Biomarker

phenotype

HPO

Entrez Id:	54808
Gene Symbol:	DYM

DYM

0.100

Biomarker

phenotype

HPO

Entrez Id:	79659
Gene Symbol:	DYNC2H1

DYNC2H1

0.100

Biomarker

phenotype

HPO

Entrez Id:	51626
Gene Symbol:	DYNC2LI1

DYNC2LI1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79631
Gene Symbol:	EFL1

EFL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

0.100

Biomarker

phenotype

HPO

Entrez Id:	2121
Gene Symbol:	EVC

EVC

0.100

Biomarker

phenotype

HPO

Entrez Id:	132884
Gene Symbol:	EVC2

EVC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

0.100

Biomarker

phenotype

HPO

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

0.100

Biomarker

phenotype

HPO

Entrez Id:	341640
Gene Symbol:	FREM2

FREM2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2735
Gene Symbol:	GLI1

GLI1

0.100

Biomarker

phenotype

HPO

Entrez Id:	84667
Gene Symbol:	HES7

HES7

0.100

Biomarker

phenotype

HPO

Entrez Id:	9742
Gene Symbol:	IFT140

IFT140

0.100

Biomarker

phenotype

HPO

Entrez Id:	26160
Gene Symbol:	IFT172

IFT172

0.100

Biomarker

phenotype

HPO