DisGeNET - a database of gene-disease associations

Generalized hypotonia, C1858120

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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:	23394
Gene Symbol:	ADNP

ADNP

0.100

Biomarker

phenotype

HPO

Entrez Id:	158
Gene Symbol:	ADSL

ADSL

0.100

Biomarker

phenotype

HPO

Entrez Id:	3899
Gene Symbol:	AFF3

AFF3

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	175
Gene Symbol:	AGA

AGA

0.100

Biomarker

phenotype

HPO

Entrez Id:	55750
Gene Symbol:	AGK

AGK

0.100

Biomarker

phenotype

HPO

Entrez Id:	26523
Gene Symbol:	AGO1

AGO1

0.300

Biomarker

phenotype

GENOMICS_ENGLAND

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

2018

Entrez Id:	23287
Gene Symbol:	AGTPBP1

AGTPBP1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	23287
Gene Symbol:	AGTPBP1

AGTPBP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	27245
Gene Symbol:	AHDC1

AHDC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9131
Gene Symbol:	AIFM1

AIFM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9255
Gene Symbol:	AIMP1

AIMP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	210
Gene Symbol:	ALAD

ALAD

0.100

Biomarker

phenotype

HPO

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4329
Gene Symbol:	ALDH6A1

ALDH6A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	501
Gene Symbol:	ALDH7A1

ALDH7A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79087
Gene Symbol:	ALG12

ALG12

0.100

Biomarker

phenotype

HPO

Entrez Id:	79868
Gene Symbol:	ALG13

ALG13

0.100

Biomarker

phenotype

HPO

Entrez Id:	199857
Gene Symbol:	ALG14

ALG14

0.100

Biomarker

phenotype

HPO

Entrez Id:	85365
Gene Symbol:	ALG2

ALG2

0.100

Biomarker

phenotype

HPO

Entrez Id:	79053
Gene Symbol:	ALG8

ALG8

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	79053
Gene Symbol:	ALG8

ALG8

0.100

Biomarker

phenotype

HPO

Entrez Id:	79796
Gene Symbol:	ALG9

ALG9

0.100

Biomarker

phenotype

HPO