prominent nose Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. (Human Phenotype Ontology, HP_0000448)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000448
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Genes

25 genes associated with the prominent nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
ASPH aspartate beta-hydroxylase
ATR ATR serine/threonine kinase
BLM Bloom syndrome, RecQ helicase-like
CTSK cathepsin K
EIF4A3 eukaryotic translation initiation factor 4A3
EMG1 EMG1 N1-specific pseudouridine methyltransferase
EP300 E1A binding protein p300
KAT6B K(lysine) acetyltransferase 6B
MAN1B1 mannosidase, alpha, class 1B, member 1
MBD5 methyl-CpG binding domain protein 5
MED12 mediator complex subunit 12
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIN ninein (GSK3B interacting protein)
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PCNT pericentrin
POC1A POC1 centriolar protein A
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
RBBP8 retinoblastoma binding protein 8
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SRCAP Snf2-related CREBBP activator protein
STIM1 stromal interaction molecule 1
TBC1D24 TBC1 domain family, member 24
TTI2 TELO2 interacting protein 2