cleft lip; cleft palate Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description disease cluster belonging to disease group developmental (Genetic Association Database)
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Genes

139 genes associated with the disease cleft lip; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
AHCY adenosylhomocysteinase
ALDH1L1 aldehyde dehydrogenase 1 family, member L1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
BCL3 B-cell CLL/lymphoma 3
BHMT betaine--homocysteine S-methyltransferase
BHMT2 betaine--homocysteine S-methyltransferase 2
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
C9ORF156 chromosome 9 open reading frame 156
C9ORF43 chromosome 9 open reading frame 43
CBS cystathionine-beta-synthase
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CHDH choline dehydrogenase
CHKA choline kinase alpha
CLPTM1 cleft lip and palate associated transmembrane protein 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
CRB2 crumbs family member 2
CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2
CRMP1 collapsin response mediator protein 1
CTH cystathionine gamma-lyase
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
DENND1A DENN/MADD domain containing 1A
DFNB31 deafness, autosomal recessive 31
DHFR dihydrofolate reductase
DMGDH dimethylglycine dehydrogenase
EDN1 endothelin 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGF1 fibroblast growth factor 1 (acidic)
FGF10 fibroblast growth factor 10
FGF2 fibroblast growth factor 2 (basic)
FGFR1 fibroblast growth factor receptor 1
FLNB filamin B, beta
FN1 fibronectin 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOLR1 folate receptor 1 (adult)
FOLR2 folate receptor 2 (fetal)
FOLR3 folate receptor 3 (gamma)
FOXE1 forkhead box E1
FTCD formimidoyltransferase cyclodeaminase
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GDF6 growth differentiation factor 6
GNMT glycine N-methyltransferase
GOLGA1 golgin A1
GSTT1 glutathione S-transferase theta 1
HEMGN hemogen
HIC1 hypermethylated in cancer 1
HSDL2 hydroxysteroid dehydrogenase like 2
IRF6 interferon regulatory factor 6
JAG2 jagged 2
LHX8 LIM homeobox 8
LINC00474 long intergenic non-protein coding RNA 474
LMX1B LIM homeobox transcription factor 1, beta
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAPKAP1 mitogen-activated protein kinase associated protein 1
MAT1A methionine adenosyltransferase I, alpha
MAT2A methionine adenosyltransferase II, alpha
MAT2B methionine adenosyltransferase II, beta
MICA MHC class I polypeptide-related sequence A
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MMP25 matrix metallopeptidase 25
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MORN5 MORN repeat containing 5
MSX1 msh homeobox 1
MSX2 msh homeobox 2
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MVB12B multivesicular body subunit 12B
MYH14 myosin, heavy chain 14, non-muscle
MYH9 myosin, heavy chain 9, non-muscle
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NPPB natriuretic peptide B
NR4A3 nuclear receptor subfamily 4, group A, member 3
NR6A1 nuclear receptor subfamily 6, group A, member 1
OFC1 orofacial cleft 1
OR1K1 olfactory receptor, family 1, subfamily K, member 1
OR1N2 olfactory receptor, family 1, subfamily N, member 2
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PAX3 paired box 3
PAX6 paired box 6
PAX7 paired box 7
PAX9 paired box 9
PBX3 pre-B-cell leukemia homeobox 3
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PEMT phosphatidylethanolamine N-methyltransferase
PON1 paraoxonase 1
PRR20A proline rich 20A
PRSS35 protease, serine, 35
PTCH1 patched 1
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B)
RARA retinoic acid receptor, alpha
RPL12 ribosomal protein L12
SDC2 syndecan 2
SH2D3C SH2 domain containing 3C
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SHMT2 serine hydroxymethyltransferase 2 (mitochondrial)
SKI SKI proto-oncogene
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A25 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25
SNAP91 synaptosomal-associated protein, 91kDa
SNX30 sorting nexin family member 30
SPRY2 sprouty homolog 2 (Drosophila)
STK32B serine/threonine kinase 32B
STOM stomatin
STX18 syntaxin 18
SUMO1 small ubiquitin-like modifier 1
SUSD1 sushi domain containing 1
TBC1D2 TBC1 domain family, member 2
TBX10 T-box 10
TBX22 T-box 22
TCN2 transcobalamin II
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP3 TIMP metallopeptidase inhibitor 3
TMEFF1 transmembrane protein with EGF-like and two follistatin-like domains 1
TNC tenascin C
TP63 tumor protein p63
TTLL11 tubulin tyrosine ligase-like family member 11
TYMS thymidylate synthetase
WNT3 wingless-type MMTV integration site family, member 3
WNT9B wingless-type MMTV integration site family, member 9B
ZNF385B zinc finger protein 385B
ZNF618 zinc finger protein 618