long philtrum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. (Human Phenotype Ontology, HP_0000343)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000343
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Genes

152 genes associated with the long philtrum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTSL2 ADAMTS-like 2
ADSL adenylosuccinate lyase
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARID1B AT rich interactive domain 1B (SWI1-like)
ARX aristaless related homeobox
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
AVP arginine vasopressin
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BMP1 bone morphogenetic protein 1
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C12ORF57 chromosome 12 open reading frame 57
CAMTA1 calmodulin binding transcription activator 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CDC6 cell division cycle 6
CHL1 cell adhesion molecule L1-like
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCF1 cardiotrophin-like cytokine factor 1
CLIP2 CAP-GLY domain containing linker protein 2
CNTN4 contactin 4
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COX7B cytochrome c oxidase subunit VIIb
CRBN cereblon
CRLF1 cytokine receptor-like factor 1
CRTAP cartilage associated protein
CUL7 cullin 7
DHCR7 7-dehydrocholesterol reductase
DLL3 delta-like 3 (Drosophila)
DOK7 docking protein 7
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ELN elastin
ERCC6 excision repair cross-complementation group 6
EXT1 exostosin glycosyltransferase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GCK glucokinase (hexokinase 4)
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC6 glypican 6
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
IFT80 intraflagellar transport 80
IGF1R insulin-like growth factor 1 receptor
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
IRX5 iroquois homeobox 5
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIF11 kinesin family member 11
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIMK1 LIM domain kinase 1
LTBP4 latent transforming growth factor beta binding protein 4
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MED12 mediator complex subunit 12
MEIS2 Meis homeobox 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
METTL23 methyltransferase like 23
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPC1 mitochondrial pyruvate carrier 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NBAS neuroblastoma amplified sequence
NIPBL Nipped-B homolog (Drosophila)
NLRP1 NLR family, pyrin domain containing 1
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
OBSL1 obscurin-like 1
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PRDM16 PR domain containing 16
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PUF60 poly-U binding splicing factor 60KDa
PUS1 pseudouridylate synthase 1
RAD21 RAD21 homolog (S. pombe)
RAPSN receptor-associated protein of the synapse
RFC2 replication factor C (activator 1) 2, 40kDa
RNF135 ring finger protein 135
ROR2 receptor tyrosine kinase-like orphan receptor 2
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCN4A sodium channel, voltage gated, type IV alpha subunit
SEC23A Sec23 homolog A (S. cerevisiae)
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNAI2 snail family zinc finger 2
SULF1 sulfatase 1
TBC1D24 TBC1 domain family, member 24
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TMEM70 transmembrane protein 70
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TTC37 tetratricopeptide repeat domain 37
UBA1 ubiquitin-like modifier activating enzyme 1
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZC4H2 zinc finger, C4H2 domain containing