respiratory failure Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A lung disease characterized by inadequate gas exchange by the respiratory system. (Human Disease Ontology, DOID_11162)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002878
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Genes

58 genes associated with the respiratory failure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ACVR1 activin A receptor, type I
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BOLA3 bolA family member 3
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CPT2 carnitine palmitoyltransferase 2
CRYAB crystallin, alpha B
CTSD cathepsin D
DMD dystrophin
ERBB3 erb-b2 receptor tyrosine kinase 3
FLNA filamin A, alpha
FOXRED1 FAD-dependent oxidoreductase domain containing 1
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HRAS Harvey rat sarcoma viral oncogene homolog
IGHMBP2 immunoglobulin mu binding protein 2
INVS inversin
LYRM7 LYR motif containing 7
MCM4 minichromosome maintenance complex component 4
MEGF10 multiple EGF-like-domains 10
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NFU1 NFU1 iron-sulfur cluster scaffold
NPC2 Niemann-Pick disease, type C2
NUBPL nucleotide binding protein-like
PSAP prosaposin
PTEN phosphatase and tensin homolog
SARS2 seryl-tRNA synthetase 2, mitochondrial
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SFTPB surfactant protein B
SMAD4 SMAD family member 4
SMN1 survival of motor neuron 1, telomeric
SUCLG1 succinate-CoA ligase, alpha subunit
SURF1 surfeit 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSFM Ts translation elongation factor, mitochondrial
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