abnormality of upper lip Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the upper lip. (Human Phenotype Ontology, HP_0000177)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000177
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Genes

184 genes associated with the abnormality of upper lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTB actin, beta
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARHGAP31 Rho GTPase activating protein 31
ARID1B AT rich interactive domain 1B (SWI1-like)
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CHD7 chromodomain helicase DNA binding protein 7
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLP1 cleavage and polyadenylation factor I subunit 1
COL11A1 collagen, type XI, alpha 1
COL4A1 collagen, type IV, alpha 1
COLEC11 collectin sub-family member 11
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHODH dihydroorotate dehydrogenase (quinone)
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DMPK dystrophia myotonica-protein kinase
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF20 fibroblast growth factor 20
FGFR1 fibroblast growth factor receptor 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNB filamin B, beta
FNBP4 formin binding protein 4
FOXC2 forkhead box C2
FOXG1 forkhead box G1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GBA glucosidase, beta, acid
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GPC3 glypican 3
GPC4 glypican 4
GRHL3 grainyhead-like 3 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IFT80 intraflagellar transport 80
IGF1R insulin-like growth factor 1 receptor
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IRF6 interferon regulatory factor 6
ISPD isoprenoid synthase domain containing
ITGA8 integrin, alpha 8
JUP junction plakoglobin
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LARGE like-glycosyltransferase
LEMD3 LEM domain containing 3
LMBRD1 LMBR1 domain containing 1
LMX1B LIM homeobox transcription factor 1, beta
MAN1B1 mannosidase, alpha, class 1B, member 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBD5 methyl-CpG binding domain protein 5
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEOX1 mesenchyme homeobox 1
MID1 midline 1
MKS1 Meckel syndrome, type 1
MPC1 mitochondrial pyruvate carrier 1
MSX1 msh homeobox 1
MSX2 msh homeobox 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NALCN sodium leak channel, non selective
NBN nibrin
NDN necdin, melanoma antigen (MAGE) family member
NEK1 NIMA-related kinase 1
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NSDHL NAD(P) dependent steroid dehydrogenase-like
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PAX3 paired box 3
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PGAP3 post-GPI attachment to proteins 3
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PITX2 paired-like homeodomain 2
PMM2 phosphomannomutase 2
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PROKR2 prokineticin receptor 2
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTCH2 patched 2
PUF60 poly-U binding splicing factor 60KDa
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
RET ret proto-oncogene
RIPK4 receptor-interacting serine-threonine kinase 4
RNF135 ring finger protein 135
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPL5 ribosomal protein L5
RPS19 ribosomal protein S19
SC5D sterol-C5-desaturase
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETD5 SET domain containing 5
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHH sonic hedgehog
SIX3 SIX homeobox 3
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMOC1 SPARC related modular calcium binding 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX3 sorting nexin 3
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
STRADA STE20-related kinase adaptor alpha
SUFU suppressor of fused homolog (Drosophila)
SUMO1 small ubiquitin-like modifier 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGIF1 TGFB-induced factor homeobox 1
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM5 transmembrane protein 5
TP63 tumor protein p63
TRAPPC9 trafficking protein particle complex 9
TRPS1 trichorhinophalangeal syndrome I
VAX1 ventral anterior homeobox 1
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT3 wingless-type MMTV integration site family, member 3
WNT5A wingless-type MMTV integration site family, member 5A
YAP1 Yes-associated protein 1
ZBTB18 zinc finger and BTB domain containing 18
ZC4H2 zinc finger, C4H2 domain containing
ZSWIM6 zinc finger, SWIM-type containing 6