DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Abnormal delivery ×

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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

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:	51371
Gene Symbol:	POMP

POMP

proteasome maturation protein

0.674

0.346

0.91

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

Entrez Id:	54551
Gene Symbol:	MAGEL2

MAGEL2

MAGE family member L2

0.560

0.654

0.98

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

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:	93627
Gene Symbol:	TBCK

TBCK

TBC1 domain containing kinase

0.650

0.654

2.1E-15

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None