deep philtrum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. (Human Phenotype Ontology, HP_0002002)
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20 genes associated with the deep philtrum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BRAF B-Raf proto-oncogene, serine/threonine kinase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CHSY1 chondroitin sulfate synthase 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBN1 fibrillin 1
KIF11 kinesin family member 11
MED12 mediator complex subunit 12
MGP matrix Gla protein
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NBN nibrin
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SMOC1 SPARC related modular calcium binding 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TRPS1 trichorhinophalangeal syndrome I