DisGeNET - a database of gene-disease associations

Spina Bifida, C0080178

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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:	64840
Gene Symbol:	PORCN

PORCN

0.100

Biomarker

disease

HPO

Entrez Id:	2189
Gene Symbol:	FANCG

FANCG

0.100

Biomarker

disease

HPO

Entrez Id:	10459
Gene Symbol:	MAD2L2

MAD2L2

0.100

Biomarker

disease

HPO

Entrez Id:	1387
Gene Symbol:	CREBBP

CREBBP

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	29968
Gene Symbol:	PSAT1

PSAT1

0.100

Biomarker

disease

HPO

Entrez Id:	26227
Gene Symbol:	PHGDH

PHGDH

0.100

Biomarker

disease

HPO

Entrez Id:	4010
Gene Symbol:	LMX1B

LMX1B

0.100

Biomarker

disease

HPO

Entrez Id:	2072
Gene Symbol:	ERCC4

ERCC4

0.100

Biomarker

disease

HPO

Entrez Id:	5889
Gene Symbol:	RAD51C

RAD51C

0.100

Biomarker

disease

HPO

Entrez Id:	6023
Gene Symbol:	RMRP

RMRP

0.100

Biomarker

disease

HPO

Entrez Id:	79728
Gene Symbol:	PALB2

PALB2

0.100

Biomarker

disease

HPO

Entrez Id:	2176
Gene Symbol:	FANCC

FANCC

0.100

Biomarker

disease

HPO

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

0.100

Biomarker

disease

HPO

Entrez Id:	23498
Gene Symbol:	HAAO

HAAO

0.100

Biomarker

disease

HPO

Entrez Id:	84464
Gene Symbol:	SLX4

SLX4

0.100

Biomarker

disease

HPO

Entrez Id:	29089
Gene Symbol:	UBE2T

UBE2T

0.100

Biomarker

disease

HPO

Entrez Id:	2187
Gene Symbol:	FANCB

FANCB

0.100

Biomarker

disease

HPO

Entrez Id:	9573
Gene Symbol:	GDF3

GDF3

0.100

Biomarker

disease

HPO

Entrez Id:	9939
Gene Symbol:	RBM8A

RBM8A

0.100

Biomarker

disease

HPO

Entrez Id:	9790
Gene Symbol:	BMS1

BMS1

0.100

Biomarker

disease

HPO

Entrez Id:	55120
Gene Symbol:	FANCL

FANCL

0.100

Biomarker

disease

HPO

Entrez Id:	8643
Gene Symbol:	PTCH2

PTCH2

0.100

Biomarker

disease

HPO

Entrez Id:	55215
Gene Symbol:	FANCI

FANCI

0.100

Biomarker

disease

HPO

Entrez Id:	28
Gene Symbol:	ABO

ABO

0.010

Biomarker

disease

BEFREE

The geographical correlation between the incidence of spina bifida and anencephaly and the HLA and ABO antigen frequencies are studied.

7008249

1980

Entrez Id:	174
Gene Symbol:	AFP

AFP

0.020

Biomarker

disease

BEFREE

The interpretation of an abnormal amniotic fluid AFP test that is followed by a normal result of a careful ultrasound scan of the fetal back is that there is a 54.5% chance that the fetus has spina bifida if there is a previous history of spina bifida.

6186144

1983