lop ear Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. (Human Phenotype Ontology, HP_0000394)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000394
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6 genes associated with the lop ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
C12ORF57 chromosome 12 open reading frame 57
CHD7 chromodomain helicase DNA binding protein 7
COL1A1 collagen, type I, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E