Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 1

Synonyms

MITOCHONDRIAL COMPLEX I DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/300078

altLabel

MITOCHONDRIAL COMPLEX I DEFICIENCY

NDUFA1

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

MWFE, B. TAURUS, HOMOLOG OF

cui

C4015968

C1838979

C1417620

Gene Locus

Xq24

Gene Symbol

NDUFA1

MWFE

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/300078.0001

http://purl.bioontology.org/ontology/OMIM/300078.0002

http://purl.bioontology.org/ontology/OMIM/300078.0003

MIMTYPEMEANING

Gene with known sequence

notation

300078

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 1

tui

T028

T033

T047

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