DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Abnormal delivery ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	55252
Gene Symbol:	ASXL2

ASXL2

ASXL transcriptional regulator 2

0.617

0.692

1.00

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

Entrez Id:	5530
Gene Symbol:	PPP3CA

PPP3CA

protein phosphatase 3 catalytic subunit alpha

0.568

0.769

1.00

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

0.610

0.808

3.6E-19

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

Entrez Id:	57459
Gene Symbol:	GATAD2B

GATAD2B

GATA zinc finger domain containing 2B

0.593

0.654

1.00

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

Entrez Id:	6329
Gene Symbol:	SCN4A

SCN4A

sodium voltage-gated channel alpha subunit 4

0.554

0.731

1.3E-02

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

1.000

2004

2008

Entrez Id:	80816
Gene Symbol:	ASXL3

ASXL3

ASXL transcriptional regulator 3

0.590

0.577

1.00

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

1.000

2016

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

cyclin dependent kinase 13

0.606

0.692

0.91

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

1.000

2017