Oral Cleft Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. (Human Phenotype Ontology, HP_0000202)
External Link https://www.disgenet.org/browser/0/1/0/C4021813
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Genes

84 genes associated with the disease Oral Cleft 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
AHI1 Abelson helper integration site 1
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARL13B ADP-ribosylation factor-like 13B
ARL3 ADP-ribosylation factor-like 3
ARL6IP6 ADP-ribosylation factor-like 6 interacting protein 6
ARMC9 armadillo repeat containing 9
B9D1 B9 protein domain 1
BCOR BCL6 corepressor
BMP4 bone morphogenetic protein 4
C5ORF42 chromosome 5 open reading frame 42
CALML3 calmodulin-like 3
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CEP104 centrosomal protein 104kDa
CEP120 centrosomal protein 120kDa
CEP41 centrosomal protein 41kDa
CFAP57 cilia and flagella associated protein 57
COLEC10 collectin sub-family member 10 (C-type lectin)
COLEC11 collectin sub-family member 11
COTL1 coactosin-like F-actin binding protein 1
CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2
CSPP1 centrosome and spindle pole associated protein 1
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
EFNB1 ephrin-B1
EMG1 EMG1 N1-specific pseudouridine methyltransferase
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
FUZ fuzzy planar cell polarity protein
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GOSR2 golgi SNAP receptor complex member 2
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
HESX1 HESX homeobox 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HYLS1 hydrolethalus syndrome 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF6 interferon regulatory factor 6
JARID2 jumonji, AT rich interactive domain 2
KIAA0556 KIAA0556
KIAA0586 KIAA0586
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MEIS2 Meis homeobox 2
MKS1 Meckel syndrome, type 1
MMP3 matrix metallopeptidase 3
MSX1 msh homeobox 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NRG1 neuregulin 1
NTN1 netrin 1
NXN nucleoredoxin
PAX3 paired box 3
PAX7 paired box 7
PHF6 PHD finger protein 6
PIBF1 progesterone immunomodulatory binding factor 1
POU1F1 POU class 1 homeobox 1
PROP1 PROP paired-like homeobox 1
PTCH1 patched 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RSPO2 R-spondin 2
SHTN1 shootin 1
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SRCAP Snf2-related CREBBP activator protein
TCN2 transcobalamin II
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TGFA transforming growth factor, alpha
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TP63 tumor protein p63
VANGL1 VANGL planar cell polarity protein 1
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