DisGeNET - a database of gene-disease associations

LEBER OPTIC ATROPHY AND DYSTONIA, C1839040

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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	4541
Gene Symbol:	ND6

ND6

P03923

NADH dehydrogenase, subunit 6 (complex I)

224

0.544

0.808

0.400

None

1.000

2

2

1994

1996

Entrez Id:	4538
Gene Symbol:	ND4

ND4

P03905

NADH dehydrogenase, subunit 4 (complex I)

Enzyme

214

0.546

0.769

0.300

None

1.000

1

2

1996

1996

Entrez Id:	4535
Gene Symbol:	ND1

ND1

P03886

NADH dehydrogenase, subunit 1 (complex I)

Enzyme

260

0.522

0.769

0.100

None

0

1

Entrez Id:	4537
Gene Symbol:	ND3

ND3

P03897

NADH dehydrogenase, subunit 3 (complex I)

113

0.604

0.654

0.100

None

0

1