Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 6

Synonyms

CHROMOSOME 8 OPEN READING FRAME 38

ID

http://purl.bioontology.org/ontology/OMIM/612392

altLabel

CHROMOSOME 8 OPEN READING FRAME 38

C8ORF38

NDUFAF6

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY

cui

C1838951

C1824247

Gene Locus

8q22.1

Gene Symbol

C8orf38

NDUFAF6

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/612392.0005

http://purl.bioontology.org/ontology/OMIM/612392.0001

http://purl.bioontology.org/ontology/OMIM/612392.0006

http://purl.bioontology.org/ontology/OMIM/612392.0007

http://purl.bioontology.org/ontology/OMIM/612392.0002

http://purl.bioontology.org/ontology/OMIM/612392.0003

http://purl.bioontology.org/ontology/OMIM/612392.0004

MIMTYPEMEANING

Gene with known sequence

notation

612392

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 6

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564021 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/PR_000032176 Protein Ontology LOOM