Cleft Lip Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1298692
Similar Terms
Downloads & Tools

Genes

250 genes associated with the disease Cleft Lip in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACTB actin, beta
ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
ADTRP androgen-dependent TFPI-regulating protein
AMER1 APC membrane recruitment protein 1
ARHGAP29 Rho GTPase activating protein 29
ARHGAP31 Rho GTPase activating protein 31
ARID3B AT rich interactive domain 3B (BRIGHT-like)
ASXL1 additional sex combs like transcriptional regulator 1
AXIN2 axin 2
B3GLCT beta 3-glucosyltransferase
BARX1 BARX homeobox 1
BCL3 B-cell CLL/lymphoma 3
BCOR BCL6 corepressor
BHMT2 betaine--homocysteine S-methyltransferase 2
BMP4 bone morphogenetic protein 4
C2CD3 C2 calcium-dependent domain containing 3
C5ORF42 chromosome 5 open reading frame 42
CALML3 calmodulin-like 3
CCL2 chemokine (C-C motif) ligand 2
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDON cell adhesion associated, oncogene regulated
CEP120 centrosomal protein 120kDa
CHD7 chromodomain helicase DNA binding protein 7
CKAP4 cytoskeleton-associated protein 4
CLK3 CDC-like kinase 3
CMSS1 cms1 ribosomal small subunit homolog (yeast)
COL21A1 collagen, type XXI, alpha 1
COL8A1 collagen, type VIII, alpha 1
COLEC10 collectin sub-family member 10 (C-type lectin)
COLEC11 collectin sub-family member 11
COTL1 coactosin-like F-actin binding protein 1
CPLX1 complexin 1
CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2
CRNKL1 crooked neck pre-mRNA splicing factor 1
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTBP1 C-terminal binding protein 1
CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1
CYRIA CYFIP related Rac1 interactor A
DEAF1 DEAF1 transcription factor
DEFB1 defensin, beta 1
DEPDC5 DEP domain containing 5
DHODH dihydroorotate dehydrogenase (quinone)
DMD dystrophin
DNTT DNA nucleotidylexotransferase
DROSHA drosha, ribonuclease type III
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFNB1 ephrin-B1
EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
ELAVL2 ELAV like neuron-specific RNA binding protein 2
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA3 EPH receptor A3
EPHB3 EPH receptor B3
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERBB4 erb-b2 receptor tyrosine kinase 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ESRP2 epithelial splicing regulatory protein 2
ESRRG estrogen-related receptor gamma
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
F13A1 coagulation factor XIII, A1 polypeptide
FBXO11 F-box protein 11
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF1 fibroblast growth factor 1 (acidic)
FGF10 fibroblast growth factor 10
FGF12 fibroblast growth factor 12
FGF18 fibroblast growth factor 18
FGF2 fibroblast growth factor 2 (basic)
FGF3 fibroblast growth factor 3
FGF7 fibroblast growth factor 7
FGF8 fibroblast growth factor 8 (androgen-induced)
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FILIP1L filamin A interacting protein 1-like
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNB filamin B, beta
FOXC2 forkhead box C2
FOXE1 forkhead box E1
FPGS folylpolyglutamate synthase
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FSBP fibrinogen silencer binding protein
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GADD45G growth arrest and DNA-damage-inducible, gamma
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like
GOSR2 golgi SNAP receptor complex member 2
GPC3 glypican 3
GPC4 glypican 4
GREM1 gremlin 1, DAN family BMP antagonist
GRHL3 grainyhead-like 3 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HHAT hedgehog acyltransferase
ICK intestinal cell (MAK-like) kinase
IFT57 intraflagellar transport 57
IFT80 intraflagellar transport 80
INTU inturned planar cell polarity protein
IQSEC2 IQ motif and Sec7 domain 2
IRF6 interferon regulatory factor 6
JAM3 junctional adhesion molecule 3
JUP junction plakoglobin
KANSL1 KAT8 regulatory NSL complex subunit 1
KLHL7 kelch-like family member 7
LARGE like-glycosyltransferase
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LMX1B LIM homeobox transcription factor 1, beta
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MED12 mediator complex subunit 12
MEIS2 Meis homeobox 2
MEOX1 mesenchyme homeobox 1
MID1 midline 1
MKNK2 MAP kinase interacting serine/threonine kinase 2
MKS1 Meckel syndrome, type 1
MMP1 matrix metallopeptidase 1
MMP9 matrix metallopeptidase 9
MSX1 msh homeobox 1
MSX2 msh homeobox 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
MTMR3 myotubularin related protein 3
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYH14 myosin, heavy chain 14, non-muscle
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NBN nibrin
NECTIN1 nectin cell adhesion molecule 1
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NHLH1 nescient helix loop helix 1
NIPBL Nipped-B homolog (Drosophila)
NOS3 nitric oxide synthase 3 (endothelial cell)
NR1D1 nuclear receptor subfamily 1, group D, member 1
NRG1 neuregulin 1
NSD2 nuclear receptor binding SET domain protein 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NTN1 netrin 1
NUCLEOLIN nucleolin multifunctional protein
NUP107 nucleoporin 107kDa
PAX3 paired box 3
PAX7 paired box 7
PAX9 paired box 9
PDGFC platelet derived growth factor C
PDPK1 3-phosphoinositide dependent protein kinase 1
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PLEKHA5 pleckstrin homology domain containing, family A member 5
PLEKHA7 pleckstrin homology domain containing, family A member 7
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PROKR2 prokineticin receptor 2
PTCH1 patched 1
PTCH2 patched 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAD54B RAD54 homolog B (S. cerevisiae)
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RBP4 retinol binding protein 4, plasma
RFC1 replication factor C (activator 1) 1, 145kDa
RIPK4 receptor-interacting serine-threonine kinase 4
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1L RPGRIP1-like
RPL5 ribosomal protein L5
RPS19 ribosomal protein S19
RPS26 ribosomal protein S26
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYK receptor-like tyrosine kinase
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
SF3B4 splicing factor 3b, subunit 4, 49kDa
SFI1 Sfi1 homolog, spindle assembly associated (yeast)
SH3BP4 SH3-domain binding protein 4
SHH sonic hedgehog
SHROOM3 shroom family member 3
SHTN1 shootin 1
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC31A1 solute carrier family 31 (copper transporter), member 1
SMC1A structural maintenance of chromosomes 1A
SMG9 SMG9 nonsense mediated mRNA decay factor
SMOC1 SPARC related modular calcium binding 1
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SPRY2 sprouty homolog 2 (Drosophila)
STAG2 stromal antigen 2
STK3 serine/threonine kinase 3
SUFU suppressor of fused homolog (Drosophila)
SUMO1 small ubiquitin-like modifier 1
SYT14 synaptotagmin XIV
TACC1 transforming, acidic coiled-coil containing protein 1
TBCA tubulin folding cofactor A
TBX2 T-box 2
TBX22 T-box 22
TCN2 transcobalamin II
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN2 tectonic family member 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGDS TDP-glucose 4,6-dehydratase
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
THADA thyroid adenoma associated
THRA thyroid hormone receptor, alpha
TMCO1 transmembrane and coiled-coil domains 1
TMCO4 transmembrane and coiled-coil domains 4
TMEM19 transmembrane protein 19
TOX3 TOX high mobility group box family member 3
TP63 tumor protein p63
TRAF3IP3 TRAF3 interacting protein 3
TRRAP transformation/transcription domain-associated protein
TTF2 transcription termination factor, RNA polymerase II
TXNDC16 thioredoxin domain containing 16
TXNL4A thioredoxin-like 4A
TYMS thymidylate synthetase
UBB ubiquitin B
UBL7 ubiquitin-like 7
UTP25 UTP25 small subunit processome component
UVRAG UV radiation resistance associated
VAX1 ventral anterior homeobox 1
VIRMA vir like m6A methyltransferase associated
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT10A wingless-type MMTV integration site family, member 10A
WNT3 wingless-type MMTV integration site family, member 3
WNT4 wingless-type MMTV integration site family, member 4
WNT9B wingless-type MMTV integration site family, member 9B
ZIC2 Zic family member 2
ZSWIM6 zinc finger, SWIM-type containing 6