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:	64207
Gene Symbol:	IRF2BPL

IRF2BPL

interferon regulatory factor 2 binding protein like

0.631

0.462

0.84

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

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

NPHP3-ACAD11 readthrough (NMD candidate)

0.663

0.577

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

Entrez Id:	4604
Gene Symbol:	MYBPC1

MYBPC1

myosin binding protein C1

0.666

0.462

4.8E-05

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

Entrez Id:	166378
Gene Symbol:	SPATA5

SPATA5

spermatogenesis associated 5

0.670

0.654

9.1E-20

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None

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:	51322
Gene Symbol:	WAC

WAC

WW domain containing adaptor with coiled-coil

0.686

0.615

1.00

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

phenotype

0.100

None