DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Oculomotor apraxia ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	54840
Gene Symbol:	APTX

APTX

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

0.200

CausalMutation

CLINVAR

Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

2017

Entrez Id:	4361
Gene Symbol:	MRE11

MRE11

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

0.110

CausalMutation

CLINVAR

Entrez Id:	22907
Gene Symbol:	DHX30

DHX30

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

0.100

CausalMutation

CLINVAR

Entrez Id:	5147
Gene Symbol:	PDE6D

PDE6D

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

0.100

GeneticVariation

CLINVAR

Entrez Id:	2290
Gene Symbol:	FOXG1

FOXG1

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

0.100

CausalMutation

CLINVAR

Entrez Id:	284217
Gene Symbol:	LAMA1

LAMA1

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

0.100

CausalMutation

CLINVAR

Entrez Id:	1161
Gene Symbol:	ERCC8

ERCC8

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

0.100

CausalMutation

CLINVAR

Entrez Id:	472
Gene Symbol:	ATM

ATM

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

0.100

CausalMutation

CLINVAR

Entrez Id:	284217
Gene Symbol:	LAMA1

LAMA1

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

0.100

GeneticVariation

CLINVAR