DisGeNET - a database of gene-disease associations

Premature Birth, C0151526

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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:	55644
Gene Symbol:	OSGEP

OSGEP

0.100

Biomarker

phenotype

HPO

Entrez Id:	84942
Gene Symbol:	WDR73

WDR73

0.100

Biomarker

phenotype

HPO

Entrez Id:	1301
Gene Symbol:	COL11A1

COL11A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1278
Gene Symbol:	COL1A2

COL1A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

0.100

Biomarker

phenotype

HPO

Entrez Id:	219844
Gene Symbol:	HYLS1

HYLS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2776
Gene Symbol:	GNAQ

GNAQ

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	5373
Gene Symbol:	PMM2

PMM2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	4693
Gene Symbol:	NDP

NDP

0.100

Biomarker

phenotype

HPO

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	9325
Gene Symbol:	TRIP4

TRIP4

0.100

Biomarker

phenotype

HPO

Entrez Id:	55252
Gene Symbol:	ASXL2

ASXL2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	1778
Gene Symbol:	DYNC1H1

DYNC1H1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	54551
Gene Symbol:	MAGEL2

MAGEL2

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	4851
Gene Symbol:	NOTCH1

NOTCH1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

0.100

Biomarker

phenotype

HPO

Entrez Id:	5745
Gene Symbol:	PTH1R

PTH1R

0.100

Biomarker

phenotype

HPO

Entrez Id:	9509
Gene Symbol:	ADAMTS2

ADAMTS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	103091864
Gene Symbol:	SNHG22

SNHG22

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	55869
Gene Symbol:	HDAC8

HDAC8

0.100

Biomarker

phenotype

HPO

Entrez Id:	1187
Gene Symbol:	CLCNKA

CLCNKA

0.100

Biomarker

phenotype

HPO

Entrez Id:	57479
Gene Symbol:	PRR12

PRR12

0.100

CausalMutation

phenotype

CLINVAR