abnormality of the philtrum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the philtrum. (Human Phenotype Ontology, HP_0000288)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000288
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Genes

245 genes associated with the abnormality of the 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
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
ALX4 ALX homeobox 4
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
ARID1A AT rich interactive domain 1A (SWI-like)
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
BCR breakpoint cluster region
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)
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCBE1 collagen and calcium binding EGF domains 1
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
CHSY1 chondroitin sulfate synthase 1
CLCF1 cardiotrophin-like cytokine factor 1
CLIP2 CAP-GLY domain containing linker protein 2
CNTN4 contactin 4
COG1 component of oligomeric golgi complex 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COLEC11 collectin sub-family member 11
COX7B cytochrome c oxidase subunit VIIb
CRBN cereblon
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRTAP cartilage associated protein
CUL7 cullin 7
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLL3 delta-like 3 (Drosophila)
DOCK7 dedicator of cytokinesis 7
DOK7 docking protein 7
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
ELN elastin
ERCC1 excision repair cross-complementation group 1
ERCC6 excision repair cross-complementation group 6
EXT1 exostosin glycosyltransferase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAT4 FAT atypical cadherin 4
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
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FOXG1 forkhead box G1
FREM1 FRAS1 related extracellular matrix 1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GCK glucokinase (hexokinase 4)
GLI2 GLI family zinc finger 2
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
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HOXB1 homeobox B1
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
KCNK9 potassium channel, two pore domain subfamily K, member 9
KDM5C lysine (K)-specific demethylase 5C
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF1BP KIF1 binding protein
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
LARP7 La ribonucleoprotein domain family, member 7
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIMK1 LIM domain kinase 1
LRP4 low density lipoprotein receptor-related protein 4
LTBP4 latent transforming growth factor beta binding protein 4
MAN1B1 mannosidase, alpha, class 1B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEIS2 Meis homeobox 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
METTL23 methyltransferase like 23
MGP matrix Gla protein
MID1 midline 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPC1 mitochondrial pyruvate carrier 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NALCN sodium leak channel, non selective
NBAS neuroblastoma amplified sequence
NBN nibrin
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NLRP1 NLR family, pyrin domain containing 1
NOG noggin
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OBSL1 obscurin-like 1
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
ORC4 origin recognition complex, subunit 4
PAX3 paired box 3
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITX2 paired-like homeodomain 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPRF protein tyrosine phosphatase, receptor type, F
PUF60 poly-U binding splicing factor 60KDa
PUS1 pseudouridylate synthase 1
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
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
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCN4A sodium channel, voltage gated, type IV alpha subunit
SEC23A Sec23 homolog A (S. cerevisiae)
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
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
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SMS spermine synthase
SNAI2 snail family zinc finger 2
SOX11 SRY (sex determining region Y)-box 11
SRCAP Snf2-related CREBBP activator protein
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TCF4 transcription factor 4
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TMCO1 transmembrane and coiled-coil domains 1
TMEM237 transmembrane protein 237
TMEM70 transmembrane protein 70
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TRAPPC9 trafficking protein particle complex 9
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TTC37 tetratricopeptide repeat domain 37
TWIST2 twist family bHLH transcription factor 2
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3B ubiquitin protein ligase E3B
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZBTB18 zinc finger and BTB domain containing 18
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC9 zinc finger, DHHC-type containing 9