atelectasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Collapse of part of a lung associated with absence of inflation (air) of that part. (Human Phenotype Ontology, HP_0100750)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100750
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Genes

17 genes associated with the atelectasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
CCDC114 coiled-coil domain containing 114
CCNO cyclin O
COMT catechol-O-methyltransferase
DRC1 dynein regulatory complex subunit 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
FBLN5 fibulin 5
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
OCRL oculocerebrorenal syndrome of Lowe
PAX3 paired box 3
RPGR retinitis pigmentosa GTPase regulator
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TBX1 T-box 1
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
UFD1L ubiquitin fusion degradation 1 like (yeast)