Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 1

Synonyms

MITOCHONDRIAL COMPLEX I DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/606934

altLabel

MITOCHONDRIAL COMPLEX I DEFICIENCY

COMPLEX I INTERMEDIATE-ASSOCIATED PROTEIN 30

NDUFAF1

CIA30

NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 1

NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 1

CGI65

cui

C1425806

C1838979

Gene Locus

15q13.3

Gene Symbol

NDUFAF1

CIA30

CGI65

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/606934.0001

http://purl.bioontology.org/ontology/OMIM/606934.0004

http://purl.bioontology.org/ontology/OMIM/606934.0002

http://purl.bioontology.org/ontology/OMIM/606934.0003

MIMTYPEMEANING

Gene with known sequence

notation

606934

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 1

tui

T028

T047

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