DisGeNET - a database of gene-disease associations

Anencephaly, C0002902

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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:	79583
Gene Symbol:	TMEM231

TMEM231

0.100

Biomarker

disease

HPO

Entrez Id:	55165
Gene Symbol:	CEP55

CEP55

0.100

Biomarker

disease

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

0.100

Biomarker

disease

HPO

Entrez Id:	3239
Gene Symbol:	HOXD13

HOXD13

0.100

Biomarker

disease

HPO

Entrez Id:	51339
Gene Symbol:	DACT1

DACT1

0.100

Biomarker

disease

HPO

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

0.100

Biomarker

disease

HPO

Entrez Id:	11041
Gene Symbol:	B4GAT1

B4GAT1

0.100

Biomarker

disease

HPO

Entrez Id:	23322
Gene Symbol:	RPGRIP1L

RPGRIP1L

0.100

Biomarker

disease

HPO

Entrez Id:	27077
Gene Symbol:	B9D1

B9D1

0.100

Biomarker

disease

HPO

Entrez Id:	79867
Gene Symbol:	TCTN2

TCTN2

0.100

Biomarker

disease

HPO

Entrez Id:	84314
Gene Symbol:	TMEM107

TMEM107

0.100

Biomarker

disease

HPO

Entrez Id:	54903
Gene Symbol:	MKS1

MKS1

0.100

Biomarker

disease

HPO

Entrez Id:	6347
Gene Symbol:	CCL2

CCL2

0.100

Biomarker

disease

HPO

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

0.100

Biomarker

disease

HPO

Entrez Id:	51057
Gene Symbol:	WDPCP

WDPCP

0.100

Biomarker

disease

HPO

Entrez Id:	51259
Gene Symbol:	TMEM216

TMEM216

0.100

Biomarker

disease

HPO

Entrez Id:	80776
Gene Symbol:	B9D2

B9D2

0.100

Biomarker

disease

HPO

Entrez Id:	57096
Gene Symbol:	RPGRIP1

RPGRIP1

0.100

Biomarker

disease

HPO

Entrez Id:	79848
Gene Symbol:	CSPP1

CSPP1

0.100

Biomarker

disease

HPO

Entrez Id:	6862
Gene Symbol:	TBXT

TBXT

0.100

Biomarker

disease

HPO

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

0.100

Biomarker

disease

HPO

Entrez Id:	9786
Gene Symbol:	KIAA0586

KIAA0586

0.100

Biomarker

disease

HPO

Entrez Id:	174
Gene Symbol:	AFP

AFP

0.020

Biomarker

disease

BEFREE

Anencephaly in trisomy 18 associated with elevated alpha-1-fetoprotein in amniotic fluid.

83284

1978

Entrez Id:	174
Gene Symbol:	AFP

AFP

0.020

AlteredExpression

disease

BEFREE

By identifying pregnancies with the highest msAFP levels, about 80% of OSB and 95% of anencephaly can be identified as early as 16 weeks gestation.

31700163

2020

Entrez Id:	23513
Gene Symbol:	SCRIB

SCRIB

0.010

GeneticVariation

disease

BEFREE

Of the six NTD cases, three spina bifida cases and one anencephaly case carried digenic variants in the CELSR1 and SCRIB gene; one anencephaly case carried variants in the CELSR1 and DVL3 gene; and one spina bifida case carried variants in the PTK7 and SCRIB genes.

29573971

2018