MCID: CLF056
MIFTS: 47

Cleft Lip with or Without Cleft Palate

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Cleft Lip with or Without Cleft Palate

Summaries for Cleft Lip with or Without Cleft Palate

MalaCards based summary : Cleft Lip with or Without Cleft Palate, also known as tessier cleft number 1,2, is related to cleft lip/palate-ectodermal dysplasia syndrome and branchiooculofacial syndrome. An important gene associated with Cleft Lip with or Without Cleft Palate is CTNND1 (Catenin Delta 1), and among its related pathways/superpathways are PAK Pathway and Cell junction organization. The drugs leucovorin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and testes, and related phenotypes are non-midline cleft lip and hearing impairment

Related Diseases for Cleft Lip with or Without Cleft Palate

Diseases related to Cleft Lip with or Without Cleft Palate via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate-ectodermal dysplasia syndrome 33.5 NECTIN1 MSX1
2 branchiooculofacial syndrome 32.2 TFAP2A MSX1 IRF6
3 popliteal pterygium syndrome 31.1 TFAP2A NECTIN1 MSX1 IRF6 ARHGAP29
4 cleft lip and alveolus 31.0 NECTIN1 MSX1 IRF6
5 isolated cleft lip 30.7 TBX10 NECTIN1 MSX1 IRF6
6 tooth size 30.7 MSX1 BMP4
7 cleft palate, isolated 30.5 TGFA TFAP2A TBX10 NECTIN1 MSX1 IRF6
8 van der woude syndrome 1 30.4 TGFA TFAP2A TBX10 NECTIN1 MSX1 IRF6
9 ectodermal dysplasia 30.3 NECTIN1 MSX1 CTNND1 CDH1
10 cleft lip/palate 30.0 TGFA NECTIN1 MSX1 IRF6 CDH1 BMP4
11 tooth agenesis 28.2 TGFA NTN1 NECTIN1 MSX1 IRF6 CTNND1
12 cleft lip 27.6 TGFA TFAP2A TBX10 OFC1 NTN1 NECTIN1
13 orofacial cleft 27.5 TGFA TFAP2A TBX10 OFC1 NECTIN1 MSX1
14 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 12.7
15 orofacial cleft 11 12.6
16 orofacial cleft 5 12.5
17 orofacial cleft 1 12.5
18 orofacial cleft 6 12.5
19 orofacial cleft 10 12.3
20 orofacial cleft 8 12.3
21 orofacial cleft 3 12.2
22 orofacial cleft 2 12.2
23 orofacial cleft 12 12.2
24 orofacial cleft 4 12.1
25 gastric cancer, hereditary diffuse 11.8
26 orofacial cleft 9 11.8
27 patau syndrome 11.8
28 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.6
29 roberts syndrome 11.4
30 orofacial cleft 15 11.4
31 neural tube defects 10.5
32 hand skill, relative 10.5
33 fibrosarcoma 10.4
34 facial cleft 10.4
35 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.3 MSX1 ARHGAP29
36 euryblepharon 10.2 CTNND1 CDH1
37 hair whorl 10.2
38 split-hand/foot malformation 1 10.2
39 down syndrome 10.2
40 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.2
41 acetylation, slow 10.2
42 lip prints 10.2
43 opitz gbbb syndrome, type i 10.2
44 common cold 10.2
45 heart disease 10.2
46 dyslexia 10.2
47 holoprosencephaly 10.2
48 rubella 10.2
49 toxoplasmosis 10.2
50 47,xyy 10.2

Graphical network of the top 20 diseases related to Cleft Lip with or Without Cleft Palate:



Diseases related to Cleft Lip with or Without Cleft Palate

Symptoms & Phenotypes for Cleft Lip with or Without Cleft Palate

Human phenotypes related to Cleft Lip with or Without Cleft Palate:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 non-midline cleft lip 58 31 obligate (100%) Obligate (100%) HP:0100335
2 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
3 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
4 recurrent otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000403
5 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
6 chronic sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0011109
7 non-midline cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0100338
8 submucous cleft of soft and hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0410031
9 median cleft lip 58 Excluded (0%)
10 median cleft lip and palate 58 Excluded (0%)

MGI Mouse Phenotypes related to Cleft Lip with or Without Cleft Palate:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.06 ARHGAP29 BMP4 CDH1 CTNND1 IRF6 MSX1
2 craniofacial MP:0005382 10.03 ARHGAP29 BMP4 IRF6 MSX1 NECTIN1 TBX10
3 growth/size/body region MP:0005378 9.97 ARHGAP29 BMP4 CDH1 IRF6 MSX1 NECTIN1
4 endocrine/exocrine gland MP:0005379 9.91 BMP4 CDH1 CTNND1 MSX1 NTN1 TFAP2A
5 integument MP:0010771 9.85 BMP4 CDH1 CTNND1 IRF6 MSX1 NECTIN1
6 hearing/vestibular/ear MP:0005377 9.8 ARHGAP29 BMP4 IRF6 MSX1 NTN1 TBX10
7 mortality/aging MP:0010768 9.65 ARHGAP29 BMP4 CDH1 CTNND1 IRF6 MSX1
8 vision/eye MP:0005391 9.17 BMP4 CTNND1 MSX1 NECTIN1 TBX10 TFAP2A

Drugs & Therapeutics for Cleft Lip with or Without Cleft Palate

Drugs for Cleft Lip with or Without Cleft Palate (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 3 58-05-9 6006 143
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3 Micronutrients Phase 3
4 Trace Elements Phase 3
5 Vitamins Phase 3
6 Vitamin B Complex Phase 3
7 Hematinics Phase 3
8 Nutrients Phase 3
9 Folate Phase 3
10 Vitamin B9 Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oral Cleft Prevention Trial in Brazil Completed NCT00098319 Phase 3 Folic acid (0.4mg vs. 4.0mg)
2 Systematic Pediatric Care for Oral Clefts - South America Completed NCT00097149

Search NIH Clinical Center for Cleft Lip with or Without Cleft Palate

Genetic Tests for Cleft Lip with or Without Cleft Palate

Anatomical Context for Cleft Lip with or Without Cleft Palate

MalaCards organs/tissues related to Cleft Lip with or Without Cleft Palate:

40
Heart, Bone, Testes, Whole Blood, Brain, Eye, Liver

Publications for Cleft Lip with or Without Cleft Palate

Articles related to Cleft Lip with or Without Cleft Palate:

(show top 50) (show all 1044)
# Title Authors PMID Year
1
Association Between IRF6 Variants and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile. 61
32533457 2020
2
Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile. 61
32492698 2020
3
The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts. 61
31950859 2020
4
Association between forkhead box E1 polymorphisms and risk of non-syndromic cleft lip with or without cleft palate: A meta-analysis. 61
31944555 2020
5
Maternal-related factors in the origin of isolated cleft palate-A population-based case-control study. 61
31854100 2020
6
The impact of family history of non-syndromic oral clefts on their incidence in pregnancy. 61
32367753 2020
7
Risk of malformation after ondansetron in pregnancy: An updated systematic review and meta-analysis. 61
32420702 2020
8
Serious Game for Teaching Undergraduate Medical Students in Cleft lip and Palate Treatment Protocol. 61
32570197 2020
9
Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian-randomization study. 61
32373937 2020
10
The conserved and divergent roles of Prdm3 and Prdm16 in zebrafish and mouse craniofacial development. 61
32044379 2020
11
Population attributable fractions of modifiable risk factors for nonsyndromic orofacial clefts: a prospective cohort study from the Japan Environment and Children's Study. 61
32336698 2020
12
Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate. 61
32318854 2020
13
The functional variant of NTN1 contributes to the risk of nonsyndromic cleft lip with or without cleft palate. 61
31780810 2020
14
An integrative, genomic, transcriptomic and network-assisted study to identify genes associated with human cleft lip with or without cleft palate. 61
32241273 2020
15
SNPs in folate pathway are associated with the risk of nonsyndromic cleft lip with or without cleft palate, a meta-analysis. 61
32124929 2020
16
Association of Axis Inhibition Protein 2 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in Iranian Children. 61
31268379 2020
17
Association between 20q12 rs13041247 polymorphism and risk of nonsyndromic cleft lip with or without cleft palate: a meta-analysis. 61
32019513 2020
18
A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile. 61
31713293 2020
19
Physical Growth Status and Feeding Methods of Chinese Infants With Cleft Lip With or Without Cleft Palate Under 1 Year of Age. 61
32373569 2020
20
Association of single nucleotide polymorphisms at 20q12 with nonsyndromic cleft lip with or without cleft palate in a Southern Chinese Han cohort. 61
31713353 2020
21
Association of BMP4 rs17563 Polymorphism with Nonsyndromic Cleft Lip with or without Cleft Palate Risk: Literature Review and Comprehensive Meta-Analysis. 61
31909686 2020
22
[Association between the JAG2 gene polymorphism and the occurrence of nonsyndromic cleft lip with or without cleft palate in northwest Chinese population]. 61
31922603 2020
23
Tissue engineering strategies combining molecular targets against inflammation and fibrosis, and umbilical cord blood stem cells to improve hampered muscle and skin regeneration following cleft repair. 61
31104334 2020
24
Gene-gene interactions between BMP4 and ARHGAP29 among non-syndromic cleft lip only (NSCLO) trios from western Han Chinese population. 61
32211112 2020
25
Exploring GRHL3 polymorphisms and SNP-SNP interactions in the risk of non-syndromic oral clefts in the Brazilian population. 61
31564061 2020
26
Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population. 61
31337262 2020
27
Association of Fetal MTHFR 677C > T Polymorphism with Non-Syndromic Cleft Lip with or without Palate Risk: A Systematic Review and Meta-Analysis. 61
31880477 2019
28
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene. 61
31817908 2019
29
Association between RFC1 A80G polymorphism and the susceptibility to nonsyndromic cleft lip with or without cleft palate: a meta-analysis. 61
32042737 2019
30
A Novel CDH1 Mutation Causing Reduced E-Cadherin Dimerization Is Associated with Nonsyndromic Cleft Lip With or Without Cleft Palate. 61
31638429 2019
31
Exploring Research Priorities of Parents Who Have Children With Down Syndrome, Cleft Lip With or Without Cleft Palate, Congenital Heart Defects, or Spina Bifida Using ConnectEpeople: A Social Media Coproduction Research Study. 61
31763986 2019
32
Maternal alcohol consumption and oral clefts: a meta-analysis. 61
31473040 2019
33
Association between methylenetetrahydrofolate reductase polymorphisms and non-syndromic cleft lip with or without palate susceptibility: an updated systematic review and meta-analysis. 61
31303355 2019
34
Comparative evaluation of bone microstructure in alveolar cleft repair by cone beam CT: influence of different autologous donor sites and additional application of β-tricalcium phosphate. 61
31707628 2019
35
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. 61
31215115 2019
36
Care of the Asian American Child With Cleft Lip or Palate. 61
31790043 2019
37
Gene-gene interaction among cell adhesion genes and risk of nonsyndromic cleft lip with or without cleft palate in Chinese case-parent trios. 61
31419083 2019
38
Association of Genetic Polymorphisms of GREM1 Gene with Susceptibility to Non-Syndromic Cleft Lip with or without Cleft Palate in an Iranian Population. 61
31650875 2019
39
Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree. 61
31386309 2019
40
Mutations of GADD45G in rabbits cause cleft lip by the disorder of proliferation, apoptosis and epithelial-mesenchymal transition (EMT). 61
31150757 2019
41
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. 61
31053785 2019
42
MSX1 gene polymorphisms and non-syndromic cleft lip with or without palate (NSCL/P): A meta-analysis. 61
31132300 2019
43
LINE-1 methylation in cleft lip tissues: Influence of infant MTHFR c.677C>T genotype. 61
31161688 2019
44
PAX7 nucleotide variants and the risk of non-syndromic orofacial clefts in the Polish population. 61
31173442 2019
45
Association between early prenatal exposure to ambient air pollution and birth defects: evidence from newborns in Xi'an, China. 61
30137461 2019
46
Protective effect of folic acid on vulnerability to oxidative stress in dental pulp stem cells of deciduous teeth from children with orofacial clefts. 61
31202461 2019
47
Speech Phenotyping in Unaffected Family Members of Individuals With Nonsyndromic Cleft Lip With or Without Palate. 61
30696259 2019
48
Exploring the interaction between FGF Genes and T-box genes among chinese nonsyndromic cleft lip with or without cleft palate case-parent trios. 61
30848863 2019
49
Association of single nucleotide polymorphisms in TPM1 rs11071720, rs3803499, rs12148828, and rs1972041 with the risk of nonsyndromic cleft lip with or without cleft palate in a sample of the Iranian population, a preliminary report. 61
30888054 2019
50
WNT10A rs147680216 G>A mutation indicates a higher risk for non-syndromic oral cleft in a northeastern Chinese population. 61
31155400 2019

Variations for Cleft Lip with or Without Cleft Palate

ClinVar genetic disease variations for Cleft Lip with or Without Cleft Palate:

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTNND1 NM_001085458.2(CTNND1):c.937_938del (p.Asp313fs)deletion Pathogenic 834013 11:57564445-57564446 11:57796973-57796974
2 CTNND1 NM_001085458.2(CTNND1):c.1007G>A (p.Trp336Ter)SNV Pathogenic 834012 11:57569255-57569255 11:57801783-57801783
3 CTNND1 NM_001085458.2(CTNND1):c.2435+1G>TSNV Pathogenic 834014 11:57576939-57576939 11:57809467-57809467
4 CTNND1 NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)SNV Pathogenic/Likely pathogenic 800854 11:57578892-57578892 11:57811420-57811420
5 PLEKHA7 NM_001329630.2(PLEKHA7):c.1985A>G (p.Asp662Gly)SNV Likely pathogenic 834024 11:16834682-16834682 11:16813135-16813135
6 PLEKHA7 NM_001329630.2(PLEKHA7):c.1631G>A (p.Gly544Asp)SNV Likely pathogenic 834022 11:16838582-16838582 11:16817035-16817035
7 PLEKHA7 NM_001329630.2(PLEKHA7):c.1537C>T (p.Arg513Trp)SNV Likely pathogenic 834023 11:16838676-16838676 11:16817129-16817129
8 CTNND1 NM_001085458.2(CTNND1):c.1496A>G (p.Asp499Gly)SNV Likely pathogenic 834015 11:57571168-57571168 11:57803696-57803696
9 CTNND1 NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe)SNV Likely pathogenic 834016 11:57572202-57572202 11:57804730-57804730
10 CTNND1 NM_001085458.2(CTNND1):c.1750C>T (p.Arg584Trp)SNV Likely pathogenic 834017 11:57573381-57573381 11:57805909-57805909
11 CTNND1 NM_001085458.2(CTNND1):c.2088G>T (p.Trp696Cys)SNV Likely pathogenic 834018 11:57575761-57575761 11:57808289-57808289
12 PLEKHA5 NM_019012.6(PLEKHA5):c.1769A>G (p.Tyr590Cys)SNV Likely pathogenic 834028 12:19440414-19440414 12:19287480-19287480
13 ESRP2 NM_024939.3(ESRP2):c.944G>A (p.Arg315His)SNV Likely pathogenic 834037 16:68266284-68266284 16:68232381-68232381
14 CTNND1 NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu)SNV Likely pathogenic 834019 11:57559005-57559005 11:57791533-57791533
15 ESRP2 NM_024939.3(ESRP2):c.1558C>T (p.Arg520Ter)SNV Likely pathogenic 834038 16:68265234-68265234 16:68231331-68231331
16 CDH1 NM_004360.5(CDH1):c.752C>T (p.Thr251Met)SNV Likely pathogenic 834042 16:68844164-68844164 16:68810261-68810261
17 CDH1 NM_004360.5(CDH1):c.760G>A (p.Asp254Asn)SNV Likely pathogenic 834043 16:68844172-68844172 16:68810269-68810269
18 CDH1 NM_004360.5(CDH1):c.768T>A (p.Asn256Lys)SNV Likely pathogenic 834044 16:68844180-68844180 16:68810277-68810277
19 CDH1 NM_004360.5(CDH1):c.1766A>T (p.Asn589Ile)SNV Likely pathogenic 834045 16:68855958-68855958 16:68822055-68822055
20 CDH1 NM_004360.5(CDH1):c.2426_2427del (p.Asn809fs)deletion Likely pathogenic 834046 16:68863687-68863688 16:68829784-68829785
21 CDH1 NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys)SNV Conflicting interpretations of pathogenicity 560365 rs1567508990 16:68849586-68849586 16:68815683-68815683
22 ESRP2 NM_024939.3(ESRP2):c.1523C>T (p.Ser508Leu)SNV Uncertain significance 834040 16:68265269-68265269 16:68231366-68231366
23 ESRP2 NM_024939.3(ESRP2):c.749G>A (p.Arg250Gln)SNV Uncertain significance 834039 16:68266552-68266552 16:68232649-68232649
24 PLEKHA5 NM_019012.6(PLEKHA5):c.2546T>G (p.Val849Gly)SNV Uncertain significance 834030 12:19506842-19506842 12:19353908-19353908
25 PLEKHA5 NM_019012.6(PLEKHA5):c.2621A>T (p.Lys874Met)SNV Uncertain significance 834035 12:19506917-19506917 12:19353983-19353983
26 ESRP2 NM_024939.3(ESRP2):c.1636_1638GAG[1] (p.Glu547del)short repeat Uncertain significance 834041 16:68265151-68265153 16:68231248-68231250
27 PLEKHA5 NM_019012.6(PLEKHA5):c.1231A>G (p.Met411Val)SNV Uncertain significance 834029 12:19427853-19427853 12:19274919-19274919
28 PLEKHA5 NM_019012.6(PLEKHA5):c.1642G>A (p.Gly548Arg)SNV Uncertain significance 834036 12:19436560-19436560 12:19283626-19283626
29 CTNND1 NM_001085458.2(CTNND1):c.1687C>G (p.Gln563Glu)SNV Uncertain significance 834021 11:57572217-57572217 11:57804745-57804745
30 CTNND1 NM_001085458.2(CTNND1):c.1721A>G (p.Lys574Arg)SNV Uncertain significance 834020 11:57572251-57572251 11:57804779-57804779
31 PLEKHA7 NM_001329630.2(PLEKHA7):c.914A>T (p.Asn305Ile)SNV Uncertain significance 834027 11:16848096-16848096 11:16826549-16826549
32 PLEKHA7 NM_001329630.2(PLEKHA7):c.643G>A (p.Val215Met)SNV Uncertain significance 834026 11:16872791-16872791 11:16851244-16851244
33 PLEKHA7 NM_001329630.2(PLEKHA7):c.53G>T (p.Gly18Val)SNV Uncertain significance 834025 11:17035896-17035896 11:17014349-17014349

Expression for Cleft Lip with or Without Cleft Palate

Search GEO for disease gene expression data for Cleft Lip with or Without Cleft Palate.

Pathways for Cleft Lip with or Without Cleft Palate

Pathways related to Cleft Lip with or Without Cleft Palate according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 TGFA NECTIN1 CTNND1 CDH1 BMP4
2
Show member pathways
12.24 NTN1 NECTIN1 CTNND1 CDH1
3 11.87 MSX1 CTNND1 BMP4
4 11.56 MSX1 IRF6 BMP4
5 11.27 TFAP2A MSX1 CDH1 BMP4
6 11.18 NECTIN1 CTNND1 CDH1
7 11.11 CTNND1 CDH1
8 11.1 CTNND1 CDH1
9 10.98 CTNND1 CDH1
10 10.8 NECTIN1 CDH1
11 10.65 CTNND1 CDH1
12 9.7 TFAP2A IRF6 ARHGAP29

GO Terms for Cleft Lip with or Without Cleft Palate

Cellular components related to Cleft Lip with or Without Cleft Palate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hippocampal mossy fiber to CA3 synapse GO:0098686 9.26 NECTIN1 CTNND1
2 catenin complex GO:0016342 9.16 CTNND1 CDH1
3 adherens junction GO:0005912 9.13 NECTIN1 CTNND1 CDH1
4 apical junction complex GO:0043296 8.62 NECTIN1 CDH1

Biological processes related to Cleft Lip with or Without Cleft Palate according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10 TFAP2A TBX10 MSX1 IRF6 BMP4
2 negative regulation of apoptotic process GO:0043066 9.84 TGFA TFAP2A MSX1 BMP4
3 negative regulation of cell proliferation GO:0008285 9.8 TFAP2A MSX1 IRF6 BMP4
4 positive regulation of bone mineralization GO:0030501 9.6 TFAP2A BMP4
5 odontogenesis GO:0042476 9.59 MSX1 BMP4
6 bone morphogenesis GO:0060349 9.58 TFAP2A MSX1
7 positive regulation of BMP signaling pathway GO:0030513 9.58 MSX1 BMP4
8 protein localization to nucleus GO:0034504 9.57 MSX1 BMP4
9 embryonic cranial skeleton morphogenesis GO:0048701 9.56 TFAP2A BMP4
10 embryonic forelimb morphogenesis GO:0035115 9.55 TFAP2A MSX1
11 embryonic hindlimb morphogenesis GO:0035116 9.52 MSX1 BMP4
12 cell-cell adhesion mediated by cadherin GO:0044331 9.51 CTNND1 CDH1
13 roof of mouth development GO:0060021 9.5 TFAP2A MSX1 IRF6
14 camera-type eye morphogenesis GO:0048593 9.48 NECTIN1 BMP4
15 embryonic morphogenesis GO:0048598 9.46 MSX1 BMP4
16 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.43 MSX1 BMP4
17 regulation of synapse assembly GO:0051963 9.4 NTN1 NECTIN1
18 entry of bacterium into host cell GO:0035635 9.37 CTNND1 CDH1
19 adherens junction organization GO:0034332 9.33 NECTIN1 CTNND1 CDH1
20 BMP signaling pathway involved in heart development GO:0061312 9.26 MSX1 BMP4
21 cell-cell adhesion GO:0098609 9.26 NTN1 NECTIN1 CTNND1 CDH1
22 pituitary gland development GO:0021983 8.8 MSX1 CDH1 BMP4

Molecular functions related to Cleft Lip with or Without Cleft Palate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion molecule binding GO:0050839 8.8 NECTIN1 CTNND1 CDH1

Sources for Cleft Lip with or Without Cleft Palate

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....