down-sloping shoulders Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Low set, steeply sloping shoulders. (Human Phenotype Ontology, HP_0200021)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0200021
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Genes

12 genes associated with the down-sloping shoulders phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CHD7 chromodomain helicase DNA binding protein 7
EFNB1 ephrin-B1
EYA1 EYA transcriptional coactivator and phosphatase 1
IRX5 iroquois homeobox 5
LMNA lamin A/C
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
PIEZO2 piezo-type mechanosensitive ion channel component 2
PTCH1 patched 1
PTCH2 patched 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SUFU suppressor of fused homolog (Drosophila)
TRPV4 transient receptor potential cation channel, subfamily V, member 4