DisGeNET - a database of gene-disease associations

Absent reflex, C0234146

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Source: ALL

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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:	16
Gene Symbol:	AARS1

AARS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	18
Gene Symbol:	ABAT

ABAT

0.300

Biomarker

phenotype

CTD_human

4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.

10407778

1999

Entrez Id:	51099
Gene Symbol:	ABHD5

ABHD5

0.100

Biomarker

phenotype

HPO

Entrez Id:	55331
Gene Symbol:	ACER3

ACER3

0.100

Biomarker

phenotype

HPO

Entrez Id:	50
Gene Symbol:	ACO2

ACO2

0.100

Biomarker

phenotype

HPO

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	112
Gene Symbol:	ADCY6

ADCY6

0.100

Biomarker

phenotype

HPO

Entrez Id:	375790
Gene Symbol:	AGRN

AGRN

0.100

Biomarker

phenotype

HPO

Entrez Id:	9131
Gene Symbol:	AIFM1

AIFM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

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:	29929
Gene Symbol:	ALG6

ALG6

0.100

Biomarker

phenotype

HPO

Entrez Id:	54840
Gene Symbol:	APTX

APTX

0.100

Biomarker

phenotype

HPO

Entrez Id:	340075
Gene Symbol:	ARSI

ARSI

0.100

Biomarker

phenotype

HPO

Entrez Id:	427
Gene Symbol:	ASAH1

ASAH1

0.100

Biomarker

phenotype

HPO

Entrez Id:	51008
Gene Symbol:	ASCC1

ASCC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	476
Gene Symbol:	ATP1A1

ATP1A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

0.100

Biomarker

phenotype

HPO

Entrez Id:	6310
Gene Symbol:	ATXN1

ATXN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6314
Gene Symbol:	ATXN7

ATXN7

0.300

Biomarker

phenotype

CTD_human

Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.

25664129

2014

Entrez Id:	148789
Gene Symbol:	B3GALNT2

B3GALNT2

0.100

Biomarker

phenotype

HPO

Entrez Id:	11041
Gene Symbol:	B4GAT1

B4GAT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23299
Gene Symbol:	BICD2

BICD2

0.100

Biomarker

phenotype

HPO

Entrez Id:	274
Gene Symbol:	BIN1

BIN1

0.100

Biomarker

phenotype

HPO