DisGeNET - a database of gene-disease associations

Abnormality of the dentition, C0262444

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Source: ALL

Results per page

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:	26154
Gene Symbol:	ABCA12

ABCA12

0.100

Biomarker

phenotype

HPO

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	189
Gene Symbol:	AGXT

AGXT

0.100

Biomarker

phenotype

HPO

Entrez Id:	191
Gene Symbol:	AHCY

AHCY

0.100

Biomarker

phenotype

HPO

Entrez Id:	7840
Gene Symbol:	ALMS1

ALMS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	242
Gene Symbol:	ALOX12B

ALOX12B

0.100

Biomarker

phenotype

HPO

Entrez Id:	59344
Gene Symbol:	ALOXE3

ALOXE3

0.100

Biomarker

phenotype

HPO

Entrez Id:	249
Gene Symbol:	ALPL

ALPL

0.100

Biomarker

phenotype

HPO

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	84168
Gene Symbol:	ANTXR1

ANTXR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8289
Gene Symbol:	ARID1A

ARID1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

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

CausalMutation

phenotype

CLINVAR

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

0.100

Biomarker

phenotype

HPO

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

Biomarker

phenotype

HPO

Entrez Id:	1107
Gene Symbol:	CHD3

CHD3

0.100

Biomarker

phenotype

HPO

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

0.100

Biomarker

phenotype

HPO

Entrez Id:	23059
Gene Symbol:	CLUAP1

CLUAP1

0.100

GeneticVariation

phenotype

CLINVAR

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

2017

Entrez Id:	1301
Gene Symbol:	COL11A1

COL11A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	9150
Gene Symbol:	CTDP1

CTDP1

0.100

Biomarker

phenotype

HPO