abnormality of the lip Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the lip. (Human Phenotype Ontology, HP_0000159)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000159
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABHD5 abhydrolase domain containing 5
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTB actin, beta
ACTG1 actin gamma 1
ACVRL1 activin A receptor type II-like 1
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AGA aspartylglucosaminidase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AIP aryl hydrocarbon receptor interacting protein
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
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
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
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
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
BDNF brain-derived neurotrophic factor
BMP1 bone morphogenetic protein 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
C12ORF57 chromosome 12 open reading frame 57
C5ORF42 chromosome 5 open reading frame 42
CAMTA1 calmodulin binding transcription activator 1
CARD9 caspase recruitment domain family, member 9
CC2D2A coiled-coil and C2 domain containing 2A
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CDC6 cell division cycle 6
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDKL5 cyclin-dependent kinase-like 5
CDT1 chromatin licensing and DNA replication factor 1
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
CNTN4 contactin 4
COL11A1 collagen, type XI, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL7A1 collagen, type VII, alpha 1
COLEC11 collectin sub-family member 11
CRBN cereblon
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTCF CCCTC-binding factor (zinc finger protein)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUL4B cullin 4B
CUL7 cullin 7
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DEAF1 DEAF1 transcription factor
DHODH dihydroorotate dehydrogenase (quinone)
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DMPK dystrophia myotonica-protein kinase
DOCK7 dedicator of cytokinesis 7
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ECM1 extracellular matrix protein 1
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ENG endoglin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FAM58A family with sequence similarity 58, member A
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FERMT1 fermitin family member 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
FMR1 fragile X mental retardation 1
FNBP4 formin binding protein 4
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXG1 forkhead box G1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUCA1 fucosidase, alpha-L- 1, tissue
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GLA galactosidase, alpha
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNS glucosamine (N-acetyl)-6-sulfatase
GPC3 glypican 3
GPC4 glypican 4
GRHL3 grainyhead-like 3 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMGA2 high mobility group AT-hook 2
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGF1R insulin-like growth factor 1 receptor
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
INSR insulin receptor
IRF6 interferon regulatory factor 6
ISPD isoprenoid synthase domain containing
ITGA8 integrin, alpha 8
JAG1 jagged 1
JUP junction plakoglobin
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF1BP KIF1 binding protein
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
LBR lamin B receptor
LEMD3 LEM domain containing 3
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPN lipase, family member N
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
MAN1B1 mannosidase, alpha, class 1B, member 1
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEOX1 mesenchyme homeobox 1
METTL23 methyltransferase like 23
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MID1 midline 1
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPC1 mitochondrial pyruvate carrier 1
MSX1 msh homeobox 1
MSX2 msh homeobox 2
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NBAS neuroblastoma amplified sequence
NBN nibrin
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NEK1 NIMA-related kinase 1
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NOG noggin
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PAX3 paired box 3
PAX6 paired box 6
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PGAP3 post-GPI attachment to proteins 3
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
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
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PYCR1 pyrroline-5-carboxylate reductase 1
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RNF135 ring finger protein 135
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPS7 ribosomal protein S7
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCARF2 scavenger receptor class F, member 2
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
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIX1 SIX homeobox 1
SIX3 SIX homeobox 3
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
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
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX3 sorting nexin 3
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
STAT1 signal transducer and activator of transcription 1, 91kDa
STK11 serine/threonine kinase 11
STRADA STE20-related kinase adaptor alpha
SUFU suppressor of fused homolog (Drosophila)
SUMO1 small ubiquitin-like modifier 1
TBC1D24 TBC1 domain family, member 24
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TCF4 transcription factor 4
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)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGIF1 TGFB-induced factor homeobox 1
TGM1 transglutaminase 1
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM5 transmembrane protein 5
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAPPC9 trafficking protein particle complex 9
TRPS1 trichorhinophalangeal syndrome I
UBE2A ubiquitin-conjugating enzyme E2A
UBE3B ubiquitin protein ligase E3B
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
WT1 Wilms tumor 1
YAP1 Yes-associated protein 1
ZBTB16 zinc finger and BTB domain containing 16
ZBTB18 zinc finger and BTB domain containing 18
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZSWIM6 zinc finger, SWIM-type containing 6