DisGeNET - a database of gene-disease associations

High, narrow palate, C1837404

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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:	368
Gene Symbol:	ABCC6

ABCC6

0.100

Biomarker

phenotype

HPO

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

0.100

GeneticVariation

phenotype

CLINVAR

First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

9452087

1998

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	59
Gene Symbol:	ACTA2

ACTA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	139285
Gene Symbol:	AMER1

AMER1

0.100

Biomarker

phenotype

HPO

Entrez Id:	84168
Gene Symbol:	ANTXR1

ANTXR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	324
Gene Symbol:	APC

APC

0.100

Biomarker

phenotype

HPO

Entrez Id:	196528
Gene Symbol:	ARID2

ARID2

0.100

Biomarker

phenotype

HPO

Entrez Id:	80816
Gene Symbol:	ASXL3

ASXL3

0.100

Biomarker

phenotype

HPO

Entrez Id:	1822
Gene Symbol:	ATN1

ATN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	538
Gene Symbol:	ATP7A

ATP7A

0.100

Biomarker

phenotype

HPO

Entrez Id:	26053
Gene Symbol:	AUTS2

AUTS2

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	582
Gene Symbol:	BBS1

BBS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	54880
Gene Symbol:	BCOR

BCOR

0.100

Biomarker

phenotype

HPO

Entrez Id:	613
Gene Symbol:	BCR

BCR

0.100

Biomarker

phenotype

HPO

Entrez Id:	657
Gene Symbol:	BMPR1A

BMPR1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

CausalMutation

phenotype

CLINVAR

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

16474404

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

Biomarker

phenotype

HPO

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

CausalMutation

phenotype

CLINVAR

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

16439621

2006

Entrez Id:	867
Gene Symbol:	CBL

CBL

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	28952
Gene Symbol:	CCDC22

CCDC22

0.100

Biomarker

phenotype

HPO

Entrez Id:	79140
Gene Symbol:	CCDC28B

CCDC28B

0.100

Biomarker

phenotype

HPO

Entrez Id:	8318
Gene Symbol:	CDC45

CDC45

0.100

Biomarker

phenotype

HPO

Entrez Id:	990
Gene Symbol:	CDC6

CDC6

0.100

Biomarker

phenotype

HPO

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