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MCID: ORF002
MIFTS: 40

Orofacial Cleft

Categories: Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Orofacial Cleft

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MalaCards integrated aliases for Orofacial Cleft:

Name: Orofacial Cleft 12 30 6 15

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0050567
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Summaries for Orofacial Cleft

About this section
Disease Ontology : 12 A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.

MalaCards based summary : Orofacial Cleft is related to orofacial cleft 1 and cleft lip/palate-ectodermal dysplasia syndrome. An important gene associated with Orofacial Cleft is OFC1 (Orofacial Cleft 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and TP53 Network. The drugs leucovorin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include whole blood, and related phenotypes are craniofacial and digestive/alimentary

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Related Diseases for Orofacial Cleft

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Diseases in the Orofacial Cleft family:

Orofacial Cleft 1 Orofacial Cleft 11
Orofacial Cleft 3 Orofacial Cleft 2
Orofacial Cleft 4 Orofacial Cleft 6
Orofacial Cleft 5 Orofacial Cleft 9
Orofacial Cleft 12 Orofacial Cleft 10
Orofacial Cleft 13 Orofacial Cleft 14
Orofacial Cleft 15 Orofacial Cleft 8

Diseases related to Orofacial Cleft via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 orofacial cleft 1 34.6 OFC1 OFCC1
2 cleft lip/palate-ectodermal dysplasia syndrome 33.8 NECTIN1 TP63
3 cleft palate, isolated 33.1 BMP4 FOXE1 IRF6 MSX1 NECTIN1 TP63
4 cleft lip 32.9 BMP4 DLX4 IRF6 MSX1 NECTIN1 SUMO1
5 tooth agenesis 31.1 BMP4 IRF6 MSX1 SUMO1
6 cleft lip/palate 31.0 BMP4 DLX4 FOXE1 IRF6 MSX1 NECTIN1
7 isolated cleft lip 30.6 FOXE1 IRF6 MSX1 NECTIN1 TP63
8 orofacial cleft 11 12.6
9 orofacial cleft 5 12.6
10 orofacial cleft 10 12.6
11 orofacial cleft 8 12.6
12 orofacial cleft 6 12.6
13 orofacial cleft 15 12.5
14 orofacial cleft 4 12.5
15 orofacial cleft 9 12.5
16 orofacial cleft 12 12.5
17 orofacial cleft 13 12.5
18 orofacial cleft 3 12.5
19 orofacial cleft 2 12.5
20 orofacial cleft 14 12.4
21 tooth agenesis, selective, 1 12.0
22 van der woude syndrome 1 11.4
23 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.4
24 microphthalmia, syndromic 6 11.3
25 split-hand/foot malformation 6 11.2
26 split-hand/foot malformation 3 11.2
27 split-hand/foot malformation 4 11.2
28 rapp-hodgkin syndrome 11.2
29 otofaciocervical syndrome 1 11.2
30 microphthalmia, syndromic 11 11.2
31 otofaciocervical syndrome 2 11.2
32 hemifacial microsomia with radial defects 11.1
33 split-hand/foot malformation 1 11.1
34 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 11.1
35 facial clefting, oblique, 1 11.1
36 split-hand/foot malformation 5 11.1
37 split hand-foot malformation 11.1
38 chromosome 1q21.1 deletion syndrome, 1.35-mb 10.6 IRF6 TP63
39 syngnathia 10.6 BMP4 IRF6 MSX1
40 cleft lip and alveolus 10.5 IRF6 MSX1 NECTIN1 TP63
41 bartsocas-papas syndrome 10.5 IRF6 TP63
42 physical disorder 10.5 BMP4 IRF6 MSX1
43 tooth size 10.5 BMP4 MSX1
44 neural tube defects 10.5
45 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.4 FOXE1 MSX1
46 cleft palate with or without ankyloglossia, x-linked 10.4 BMP4 MSX1
47 neural tube defects, folate-sensitive 10.4
48 synovial chondromatosis 10.3 BMP4 FGF9
49 proximal symphalangism 10.2 BMP4 FGF9
50 neuroendocrine neoplasm of appendix 10.1

Graphical network of the top 20 diseases related to Orofacial Cleft:



Diseases related to Orofacial Cleft
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Symptoms & Phenotypes for Orofacial Cleft

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MGI Mouse Phenotypes related to Orofacial Cleft:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.96 BMP4 FGF9 FOXE1 IRF6 MSX1 NECTIN1
2 digestive/alimentary MP:0005381 9.76 BMP4 FGF9 FOXE1 IRF6 MSX1 SUMO1
3 skeleton MP:0005390 9.56 ABCA4 BMP4 FGF9 IRF6 MSX1 NECTIN1
4 vision/eye MP:0005391 9.23 ABCA4 BMP4 FGF9 MSX1 NECTIN1 OFCC1
Sources

Drugs & Therapeutics for Orofacial Cleft

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Drugs for Orofacial Cleft (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved 58-05-9 6006 143
2
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
3
Methylcobalamin Approved, Experimental, Investigational 13422-55-4
4
Ethanol Approved Not Applicable 64-17-5 702
5
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
6
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
7
Cobalamin Experimental 13408-78-1 6857388
8 Diflucortolone
9 Anti-Inflammatory Agents
10 Hormones
11 Diflucortolone valerate
12 Hormone Antagonists
13 glucocorticoids
14 Hormones, Hormone Substitutes, and Hormone Antagonists
15 Vitamin B9
16 Folate
17 Vitamin B Complex
18 Vitamins
19 Vitamin B 12
20 Vitamin B12

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Development of the Palate in Bilateral Orofacial Cleft Newborns One Year After Early Neonatal Cheiloplasty Recruiting NCT03839290
2 A Study to Learn More About the Relationship Between the Development of a Gap in the Upper Lip (Cleft Lip) or in the Roof of the Mouth (Cleft Palate) in Newborns and the Use of Glucocorticoids by the Mother During Pregnancy: a Meta-analysis Active, not recruiting NCT03788863 Diflucortolone valerate (BAY866146)
3 Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing Recruiting NCT03065686 Not Applicable
4 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Completed NCT00341068
5 Influence of Genetics on Vitamin Metabolism in Pregnant Women Completed NCT00340366
6 Pregnancy Environment and Newborn Malformations Recruiting NCT01613638 Not Applicable

Search NIH Clinical Center for Orofacial Cleft

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Genetic Tests for Orofacial Cleft

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Genetic tests related to Orofacial Cleft:

# Genetic test Affiliating Genes
1 Orofacial Cleft 30
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Anatomical Context for Orofacial Cleft

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MalaCards organs/tissues related to Orofacial Cleft:

42
Whole Blood
Sources

Publications for Orofacial Cleft

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Articles related to Orofacial Cleft:

(show top 50) (show all 88)
# Title Authors Year
1
Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients. ( 30633559 )
2019
2
Nasolabial outcomes in a nationwide study of orofacial cleft in New Zealand. ( 30849215 )
2019
3
Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition. ( 29663709 )
2018
4
Malthus Mysterious Orofacial Cleft Correction. ( 29537879 )
2018
5
Orofacial cleft management by short-term surgical missions in South America: literature review. ( 29945819 )
2018
6
Analysis of Parent-of-Origin Effects on the X Chromosome in Asian and European Orofacial Cleft Triads Identifies Associations with <i>DMD, FGF13, EGFL6</i>, and Additional Loci at Xp22.2. ( 29520293 )
2018
7
Association between a single-nucleotide polymorphism in the GREM1 gene and non-syndromic orofacial cleft in the Chinese population. ( 29149498 )
2018
8
A functional polymorphism in the pre-miR-146a gene is associated with the risk of nonsyndromic orofacial cleft. ( 29484780 )
2018
9
Long-term significant seasonal differences in the numbers of new-borns with an orofacial cleft in the Czech Republic - a retrospective study. ( 30153794 )
2018
10
Five decades of orofacial cleft management and research in Brazil. ( 30297262 )
2018
11
Response to comments on "Orofacial cleft management by short-term surgical missions in South America: literature review". ( 30318114 )
2018
12
An optimized imaging protocol for orofacial cleft patients. ( 30386636 )
2018
13
Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft. ( 30578914 )
2018
14
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. ( 27834299 )
2017
15
Distinct DNA methylation profiles in subtypes of orofacial cleft. ( 28603561 )
2017
16
Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes. ( 29124805 )
2017
17
Are people with an orofacial cleft at a higher risk of dental caries? A systematic review and meta-analysis. ( 28684841 )
2017
18
New insights in orofacial cleft: epidemiological and genetic studies on italian samples. ( 28757931 )
2017
19
Validity and reliability of the COHIP-SF in Australian children with orofacial cleft. ( 28833655 )
2017
20
Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature. ( 28845624 )
2017
21
Prevalence and Characteristics of Developmental Dental Anomalies in Iranian Orofacial Cleft Patients. ( 29034274 )
2017
22
Maternal biomarkers of methylation status and non-syndromic orofacial cleft risk: a meta-analysis. ( 27364370 )
2016
23
Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies. ( 27053714 )
2016
24
Associations between microRNA binding site SNPs in FGFs and FGFRs and the risk of non-syndromic orofacial cleft. ( 27511275 )
2016
25
Can we predict orofacial cleft in future pregnancy? ( 27546542 )
2016
26
Parental cigarette smoking, transforming growth factor-alpha gene variant and the risk of orofacial cleft in Iranian infants. ( 27279979 )
2016
27
The incidence of Orofacial Cleft in live births in New Zealand. ( 27538040 )
2016
28
FOXE1 polymorphisms and non-syndromic orofacial cleft susceptibility in a Chinese Han population. ( 26728781 )
2016
29
Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population. ( 27527345 )
2016
30
Three-dimensional evaluation of surgical techniques in neonates with orofacial cleft. ( 28299266 )
2016
31
MTHFD1 gene polymorphisms as risk factors involved in orofacial cleft: an independent case-control study and a meta-analysis. ( 26221324 )
2015
32
Weight Gain Pattern of Infants with Orofacial Cleft on Three Types of Feeding Techniques. ( 25650232 )
2015
33
Psychotropic drug use in adolescents born with an orofacial cleft: a population-based study. ( 25838502 )
2015
34
The accuracy of prenatal ultrasound in determining the type of orofacial cleft. ( 25721357 )
2015
35
Visualization of the fetal lips and palate using a surface rendered oro-palatal (SROP) view in fetuses with normal palate or orofacial cleft lip with or without cleft palate (CLA+P). ( 26180023 )
2015
36
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts. ( 26561393 )
2015
37
Subphenotyping and Classification of Orofacial Clefts: Need for Orofacial Cleft Subphenotyping Calls for Revised Classification. ( 26171570 )
2015
38
Maternal Supplementary Folate Intake, Methylenetetrahydrofolate Reductase (MTHFR) C677T and A1298C Polymorphisms and the Risk of Orofacial Cleft in Iranian Children. ( 26140186 )
2015
39
Risk factors involved in orofacial cleft predisposition - review. ( 28352691 )
2015
40
Cholesteatoma risk in 8,593 orofacial cleft cases and 6,989 siblings: A nationwide study. ( 25388367 )
2014
41
The status of orofacial cleft care in Ghana. ( 24603915 )
2014
42
The role of the folic acid to the prevention of orofacial cleft: an epidemiological study. ( 24828118 )
2014
43
Symptoms of Attention-Deficit Hyperactivity Disorder, Nonsyndromic Orofacial Cleft Children, and Dopamine Polymorphisms: A Pilot Study. ( 25271118 )
2014
44
Socioeconomic influence on orofacial cleft patient care. ( 25504476 )
2014
45
Community Mobilization and Awareness Creation for Orofacial Cleft Services: A Survey of Nigerian Cleft Service Providers. ( 27350971 )
2014
46
Orbital Prosthetic Rehabilitation in &amp;quot;ADAM Complex&amp;quot; Multiple Orofacial-Cleft Disruption Syndrome. ( 23762737 )
2013
47
Mesenchymal stem cells - a promising perspective in the orofacial cleft surgery. ( 23331197 )
2013
48
Early Mother-Child Interaction and Later Quality of Attachment in Infants With an Orofacial Cleft Compared to Infants Without Cleft. ( 23611443 )
2013
49
Early mother-child interaction and later quality of attachment in infants with an orofacial cleft compared to infants without cleft. ( 24218985 )
2013
50
Genetics and management of the patient with orofacial cleft. ( 23213504 )
2012
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Variations for Orofacial Cleft

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ClinVar genetic disease variations for Orofacial Cleft:

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMP4 NM_001202.5(BMP4): c.455T> C (p.Val152Ala) single nucleotide variant Benign/Likely benign rs17563 GRCh37 Chromosome 14, 54417522: 54417522
2 BMP4 NM_001202.5(BMP4): c.455T> C (p.Val152Ala) single nucleotide variant Benign/Likely benign rs17563 GRCh38 Chromosome 14, 53950804: 53950804
3 BMP4 NM_001202.5(BMP4): c.*148_*149insT insertion Uncertain significance rs796563569 GRCh38 Chromosome 14, 53949883: 53949884
4 BMP4 NM_001202.5(BMP4): c.*148_*149insT insertion Uncertain significance rs796563569 GRCh37 Chromosome 14, 54416601: 54416602
5 BMP4 NM_001202.5(BMP4): c.*148A> T single nucleotide variant Likely benign rs76335800 GRCh38 Chromosome 14, 53949884: 53949884
6 BMP4 NM_001202.5(BMP4): c.*148A> T single nucleotide variant Likely benign rs76335800 GRCh37 Chromosome 14, 54416602: 54416602
7 BMP4 NM_001202.5(BMP4): c.*143A> T single nucleotide variant Uncertain significance rs750395429 GRCh38 Chromosome 14, 53949889: 53949889
8 BMP4 NM_001202.5(BMP4): c.*143A> T single nucleotide variant Uncertain significance rs750395429 GRCh37 Chromosome 14, 54416607: 54416607
9 BMP4 NM_001202.5(BMP4): c.*251C> T single nucleotide variant Uncertain significance rs573118445 GRCh38 Chromosome 14, 53949781: 53949781
10 BMP4 NM_001202.5(BMP4): c.*251C> T single nucleotide variant Uncertain significance rs573118445 GRCh37 Chromosome 14, 54416499: 54416499
11 BMP4 NM_001202.5(BMP4): c.*150delG deletion Uncertain significance rs878985651 GRCh38 Chromosome 14, 53949882: 53949882
12 BMP4 NM_001202.5(BMP4): c.*150delG deletion Uncertain significance rs878985651 GRCh37 Chromosome 14, 54416600: 54416600
13 BMP4 NM_001202.5(BMP4): c.*148_*149insAAT insertion Uncertain significance rs796563569 GRCh38 Chromosome 14, 53949883: 53949884
14 BMP4 NM_001202.5(BMP4): c.*148_*149insAAT insertion Uncertain significance rs796563569 GRCh37 Chromosome 14, 54416601: 54416602
15 BMP4 NM_001202.5(BMP4): c.*88C> T single nucleotide variant Likely benign rs74054236 GRCh38 Chromosome 14, 53949944: 53949944
16 BMP4 NM_001202.5(BMP4): c.*88C> T single nucleotide variant Likely benign rs74054236 GRCh37 Chromosome 14, 54416662: 54416662
17 BMP4 NM_001202.5(BMP4): c.*35C> G single nucleotide variant Uncertain significance rs886050540 GRCh38 Chromosome 14, 53949997: 53949997
18 BMP4 NM_001202.5(BMP4): c.*35C> G single nucleotide variant Uncertain significance rs886050540 GRCh37 Chromosome 14, 54416715: 54416715
19 BMP4 NM_001202.5(BMP4): c.-146T> C single nucleotide variant Likely benign rs73267467 GRCh37 Chromosome 14, 54423281: 54423281
20 BMP4 NM_001202.5(BMP4): c.-146T> C single nucleotide variant Likely benign rs73267467 GRCh38 Chromosome 14, 53956563: 53956563
21 BMP4 NM_001202.5(BMP4): c.-342G> A single nucleotide variant Uncertain significance rs778139957 GRCh37 Chromosome 14, 54423477: 54423477
22 BMP4 NM_001202.5(BMP4): c.-342G> A single nucleotide variant Uncertain significance rs778139957 GRCh38 Chromosome 14, 53956759: 53956759
23 BMP4 NM_001202.5(BMP4): c.*272A> G single nucleotide variant Uncertain significance rs568281464 GRCh38 Chromosome 14, 53949760: 53949760
24 BMP4 NM_001202.5(BMP4): c.*272A> G single nucleotide variant Uncertain significance rs568281464 GRCh37 Chromosome 14, 54416478: 54416478
25 BMP4 NM_001202.5(BMP4): c.*149G> A single nucleotide variant Uncertain significance rs74495140 GRCh38 Chromosome 14, 53949883: 53949883
26 BMP4 NM_001202.5(BMP4): c.*149G> A single nucleotide variant Uncertain significance rs74495140 GRCh37 Chromosome 14, 54416601: 54416601
27 BMP4 NM_001202.5(BMP4): c.*148_*149delAG deletion Uncertain significance rs140085940 GRCh38 Chromosome 14, 53949883: 53949884
28 BMP4 NM_001202.5(BMP4): c.*148_*149delAG deletion Uncertain significance rs140085940 GRCh37 Chromosome 14, 54416601: 54416602
29 BMP4 NM_001202.5(BMP4): c.*146_*148dupAAA duplication Uncertain significance rs1555339771 GRCh38 Chromosome 14, 53949884: 53949886
30 BMP4 NM_001202.5(BMP4): c.*146_*148dupAAA duplication Uncertain significance rs1555339771 GRCh37 Chromosome 14, 54416602: 54416604
31 BMP4 NM_001202.5(BMP4): c.370+12C> T single nucleotide variant Uncertain significance rs368426865 GRCh38 Chromosome 14, 53951841: 53951841
32 BMP4 NM_001202.5(BMP4): c.370+12C> T single nucleotide variant Uncertain significance rs368426865 GRCh37 Chromosome 14, 54418559: 54418559
33 BMP4 NM_001202.5(BMP4): c.288A> G (p.Glu96=) single nucleotide variant Uncertain significance rs886050541 GRCh37 Chromosome 14, 54418653: 54418653
34 BMP4 NM_001202.5(BMP4): c.288A> G (p.Glu96=) single nucleotide variant Uncertain significance rs886050541 GRCh38 Chromosome 14, 53951935: 53951935
35 BMP4 NM_001202.5(BMP4): c.224A> G (p.Lys75Arg) single nucleotide variant Uncertain significance rs777501416 GRCh37 Chromosome 14, 54418717: 54418717
36 BMP4 NM_001202.5(BMP4): c.224A> G (p.Lys75Arg) single nucleotide variant Uncertain significance rs777501416 GRCh38 Chromosome 14, 53951999: 53951999
37 BMP4 NM_001202.5(BMP4): c.215A> G (p.Gln72Arg) single nucleotide variant Uncertain significance rs771047931 GRCh37 Chromosome 14, 54418726: 54418726
38 BMP4 NM_001202.5(BMP4): c.215A> G (p.Gln72Arg) single nucleotide variant Uncertain significance rs771047931 GRCh38 Chromosome 14, 53952008: 53952008
39 BMP4 NM_001202.5(BMP4): c.*148_*149insAT insertion Uncertain significance rs796563569 GRCh37 Chromosome 14, 54416601: 54416602
40 BMP4 NM_001202.5(BMP4): c.*148_*149insAT insertion Uncertain significance rs796563569 GRCh38 Chromosome 14, 53949883: 53949884
41 BMP4 NM_001202.5(BMP4): c.*148_*149insAG insertion Uncertain significance rs796563569 GRCh38 Chromosome 14, 53949883: 53949884
42 BMP4 NM_001202.5(BMP4): c.*148_*149insAG insertion Uncertain significance rs796563569 GRCh37 Chromosome 14, 54416601: 54416602
43 BMP4 NM_001202.5(BMP4): c.*145_*149delAAAAG deletion Uncertain significance rs886050539 GRCh38 Chromosome 14, 53949883: 53949887
44 BMP4 NM_001202.5(BMP4): c.*145_*149delAAAAG deletion Uncertain significance rs886050539 GRCh37 Chromosome 14, 54416601: 54416605
45 BMP4 NM_001202.5(BMP4): c.*131A> T single nucleotide variant Uncertain significance rs76149166 GRCh38 Chromosome 14, 53949901: 53949901
46 BMP4 NM_001202.5(BMP4): c.*131A> T single nucleotide variant Uncertain significance rs76149166 GRCh37 Chromosome 14, 54416619: 54416619
Sources

Expression for Orofacial Cleft

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Search GEO for disease gene expression data for Orofacial Cleft.
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Pathways for Orofacial Cleft

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Pathways related to Orofacial Cleft according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.05 BMP4 IRF6 MSX1 TP63
2
TP53 Network 1
Show member pathways
 10.5 SUMO1 TP63
3
Hypothetical Craniofacial Development Pathway 1
9.86 IRF6 TP63
Sources

GO Terms for Orofacial Cleft

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Biological processes related to Orofacial Cleft according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.97 BMP4 FGF9 FOXE1 IRF6 TP63 VAX1
2 negative regulation of transcription, DNA-templated GO:0045892 9.88 BMP4 FOXE1 MSX1 SUMO1 TP63
3 embryonic forelimb morphogenesis GO:0035115 9.58 MSX1 TP63
4 negative regulation of DNA binding GO:0043392 9.58 MSX1 SUMO1
5 odontogenesis of dentin-containing tooth GO:0042475 9.58 BMP4 MSX1 TP63
6 pituitary gland development GO:0021983 9.57 BMP4 MSX1
7 hair follicle morphogenesis GO:0031069 9.56 FOXE1 TP63
8 anatomical structure formation involved in morphogenesis GO:0048646 9.54 BMP4 TP63
9 camera-type eye morphogenesis GO:0048593 9.52 BMP4 NECTIN1
10 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.46 BMP4 MSX1
11 roof of mouth development GO:0060021 9.46 FOXE1 MSX1 SUMO1 VAX1
12 cranial skeletal system development GO:1904888 9.43 FOXE1 TP63
13 embryonic hindlimb morphogenesis GO:0035116 9.43 BMP4 MSX1 TP63
14 BMP signaling pathway involved in heart development GO:0061312 9.37 BMP4 MSX1
15 cloacal septation GO:0060197 9.32 BMP4 TP63
16 embryonic limb morphogenesis GO:0030326 9.26 BMP4 FGF9 MSX1 TP63
17 negative regulation of transcription by RNA polymerase II GO:0000122 9.23 BMP4 DLX4 FGF9 FOXE1 MSX1 SUMO1
18 regulation of transcription, DNA-templated GO:0006355 10.05 DLX4 FOXE1 IRF6 MSX1 SUMO1 TP63
19 multicellular organism development GO:0007275 10.02 BMP4 DLX4 FGF9 MSX1 TP63 VAX1

Molecular functions related to Orofacial Cleft according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.1 DLX4 FOXE1 IRF6 MSX1 TP63 VAX1
Sources

Sources for Orofacial Cleft

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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