Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1

Synonyms

MITOCHONDRIAL COMPLEX I DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/161015

altLabel

MITOCHONDRIAL COMPLEX I DEFICIENCY

UQOR1

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT

NDUFV1

cui

C1417652

C4015968

C1838979

Gene Locus

11q13

Gene Symbol

UQOR1

NDUFV1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/161015.0001

http://purl.bioontology.org/ontology/OMIM/161015.0005

http://purl.bioontology.org/ontology/OMIM/161015.0003

http://purl.bioontology.org/ontology/OMIM/161015.0002

http://purl.bioontology.org/ontology/OMIM/161015.0004

MIMTYPEMEANING

Gene with known sequence

notation

161015

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1

tui

T028

T033

T047

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http://purl.bioontology.org/ontology/MESH/C537475 Medical Subject Headings CUI