smooth philtrum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. (Human Phenotype Ontology, HP_0000319)
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35 genes associated with the smooth philtrum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AP3B1 adaptor-related protein complex 3, beta 1 subunit
CCBE1 collagen and calcium binding EGF domains 1
COG1 component of oligomeric golgi complex 1
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
FBN1 fibrillin 1
FLNA filamin A, alpha
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
HOXB1 homeobox B1
IGF1R insulin-like growth factor 1 receptor
IRX5 iroquois homeobox 5
KDM5C lysine (K)-specific demethylase 5C
KIF7 kinesin family member 7
MAN1B1 mannosidase, alpha, class 1B, member 1
MED12 mediator complex subunit 12
MID1 midline 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
NALCN sodium leak channel, non selective
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
ORC4 origin recognition complex, subunit 4
PAX3 paired box 3
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTPRF protein tyrosine phosphatase, receptor type, F
RAD21 RAD21 homolog (S. pombe)
SATB2 SATB homeobox 2
SEC23A Sec23 homolog A (S. cerevisiae)
SMC1A structural maintenance of chromosomes 1A
SRCAP Snf2-related CREBBP activator protein
TRAPPC9 trafficking protein particle complex 9
TRPS1 trichorhinophalangeal syndrome I
WDR19 WD repeat domain 19
ZBTB18 zinc finger and BTB domain containing 18
ZC4H2 zinc finger, C4H2 domain containing