DisGeNET - a database of gene-disease associations

Dilated ventricles (finding), C3278923

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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:	134
Gene Symbol:	ADORA1

ADORA1

0.200

Biomarker

phenotype

RGD

A1 adenosine receptor activation induces ventriculomegaly and white matter loss.

12151769

2002

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

0.100

GeneticVariation

phenotype

CLINVAR

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

28807008

2017

Entrez Id:	2475
Gene Symbol:	MTOR

MTOR

0.100

CausalMutation

phenotype

CLINVAR

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

27159400

2016

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9373
Gene Symbol:	PLAA

PLAA

0.100

Biomarker

phenotype

HPO

Entrez Id:	84342
Gene Symbol:	COG8

COG8

0.100

Biomarker

phenotype

HPO

Entrez Id:	83544
Gene Symbol:	DNAL1

DNAL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	57462
Gene Symbol:	MYORG

MYORG

0.100

Biomarker

phenotype

HPO

Entrez Id:	2189
Gene Symbol:	FANCG

FANCG

0.100

Biomarker

phenotype

HPO

Entrez Id:	23230
Gene Symbol:	VPS13A

VPS13A

0.100

Biomarker

phenotype

HPO

Entrez Id:	56270
Gene Symbol:	WDR45B

WDR45B

0.100

Biomarker

phenotype

HPO

Entrez Id:	85016
Gene Symbol:	CFAP300

CFAP300

0.100

Biomarker

phenotype

HPO

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

0.100

Biomarker

phenotype

HPO

Entrez Id:	10300
Gene Symbol:	KATNB1

KATNB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	25914
Gene Symbol:	RTTN

RTTN

0.100

Biomarker

phenotype

HPO

Entrez Id:	57082
Gene Symbol:	KNL1

KNL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	339829
Gene Symbol:	CCDC39

CCDC39

0.100

Biomarker

phenotype

HPO

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

0.100

Biomarker

phenotype

HPO

Entrez Id:	2290
Gene Symbol:	FOXG1

FOXG1

0.100

Biomarker

phenotype

HPO

Entrez Id:	100033413
Gene Symbol:	SNORD116-1

SNORD116-1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4774
Gene Symbol:	NFIA

NFIA

0.100

Biomarker

phenotype

HPO

Entrez Id:	54919
Gene Symbol:	DNAAF5

DNAAF5

0.100

Biomarker

phenotype

HPO

Entrez Id:	2218
Gene Symbol:	FKTN

FKTN

0.100

Biomarker

phenotype

HPO

Entrez Id:	4564
Gene Symbol:	TRNH

TRNH

0.100

Biomarker

phenotype

HPO

Entrez Id:	54499
Gene Symbol:	TMCO1

TMCO1

0.100

Biomarker

phenotype

HPO