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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	54840
Gene Symbol:	APTX

APTX

aprataxin

0.590

0.500

4.0E-10

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

disease

0.200

None

1.000

2002

2018

Entrez Id:	4361
Gene Symbol:	MRE11

MRE11

MRE11 homolog, double strand break repair nuclease

0.527

0.808

1.3E-12

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

disease

0.110

None

1.000

2011

2011

Entrez Id:	1161
Gene Symbol:	ERCC8

ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

0.551

0.885

2.8E-15

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

disease

0.100

None

Entrez Id:	2290
Gene Symbol:	FOXG1

FOXG1

forkhead box G1

0.522

0.692

0.94

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

disease

0.100

None

Entrez Id:	22907
Gene Symbol:	DHX30

DHX30

DExH-box helicase 30

0.722

0.500

1.00

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

disease

0.100

None

Entrez Id:	284217
Gene Symbol:	LAMA1

LAMA1

laminin subunit alpha 1

0.582

0.808

3.2E-32

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

disease

0.100

None

Entrez Id:	472
Gene Symbol:	ATM

ATM

ATM serine/threonine kinase

0.374

0.885

5.6E-47

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

disease

0.100

None

Entrez Id:	5147
Gene Symbol:	PDE6D

PDE6D

phosphodiesterase 6D

0.623

0.577

6.4E-03

CUI:	C3489733
Disease:	Oculomotor apraxia

Oculomotor apraxia

disease

0.100

None