MCID: CLF001
MIFTS: 59

Cleft Lip malady

Summaries for Cleft Lip

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66Wikipedia, 34MalaCards
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Wikipedia:66 Cleft lip (cheiloschisis) and cleft palate (palatoschisis), which can also occur together as cleft lip... more...

MalaCards: Cleft Lip, also known as cleft lip, unilateral, complete, is related to ectodermal dysplasia and cleft palate. An important gene associated with Cleft Lip is TP63 (tumor protein p63), and among its related pathways are Nectin adhesion pathway and Glypican 1 network. The compounds cyclopamine and multivitamin have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

Aliases & Classifications for Cleft Lip

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9Disease Ontology, 11DISEASES, 46Novoseek, 59SNOMED-CT, 28ICD9CM, 63UMLS, 36MeSH, 41NCIt
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Aliases & Descriptions:

cleft lip 9 11 46
cleft lip, unilateral, complete 9
complete unilateral cleft lip 9
labium leporinum 9
cheiloschisis 9
hare lip 9


External Ids:

Disease Ontology9 DOID:9296
ICD9CM28 749.10, 749.1
MeSH36 D002971
NCIt41 C87175

Related Diseases for Cleft Lip

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18GeneCards, 19GeneDecks
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Diseases related to Cleft Lip via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 586)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia31.2TP63
2cleft palate31.1CLPTM1, TGFB3, TGFA, TP63, BMP4, PAX9
3van der woude syndrome31.0IRF6
4tooth agenesis30.5MSX1, PAX9
5hypertrophic scars30.1TGFB3, TP63
6craniosynostosis30.0FGFR1, TGFB3
7breast cancer29.9FGFR1, TGFB3, TGFA, CDH1, TP63
8cleft lip +/- cleft palate10.8
9ankyloblepharon-ectodermal defects-cleft lip/palate syndrome10.6
10eec syndrome10.6
11mental retardation10.6
12cleft hard palate10.5
13syndactyly10.5
14ectropion inferior cleft lip and or palate10.5
15stickler syndrome10.5
16ausems wittebol-post hennekam syndrome10.5
17zlotogora syndrome10.5
18holoprosencephaly10.4
19arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.4
20cleft palate, isolated10.4
21ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.4
22cleft velum10.4
23microbrachycephaly ptosis cleft lip10.4
24roberts syndrome10.4
25juberg-hayward syndrome10.4
26microcephaly, corpus callosum dysgenesis and cleft lip-palate10.4
27hartsfield syndrome10.4
28median cleft lip/mandibule10.4
29aicardi syndrome10.3
30coloboma, cleft lip/palate and mental retardation syndrome10.3
31polydactyly10.3
32branchiooculofacial syndrome10.3
33gingivitis10.3
34orofacial cleft10.3
35acrofrontofacionasal dysostosis syndrome10.3
36amelia cleft lip palate hydrocephalus iris coloboma10.3
37anophthalmia plus syndrome10.3
38ectrodactyly and ectodermal dysplasia without cleft lip/palate10.3
39medeira-dennis-donnai syndrome10.3
40miller syndrome10.3
41oculodentodigital dysplasia10.3
42partial androgen insensitivity syndrome10.3
43pilotto syndrome10.3
44cleft lip, congenital healed10.3
45single median maxillary central incisor10.3
46coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation10.3
47cleft lip/palate - deafness - sacral lipoma10.3
48cleft lip/palate - intestinal malrotation - cardiopathy10.3
49blepharo-cheilo-odontic syndrome10.3
50short stature - intellectual disability - eye anomalies - cleft lip/palate10.3

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



Diseases related to cleft lip

Symptoms for Cleft Lip

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Drugs & Therapeutics for Cleft Lip

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cleft Lip

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Anatomical Context for Cleft Lip

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34MalaCards
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MalaCards organs/tissues related to Cleft Lip:

34
Bone, Heart, Skin, Testes, Brain, Kidney, Breast, Thyroid, Thymus, Pituitary

Animal Models for Cleft Lip or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cleft Lip:

38 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.3BMP4, FGFR1, MSX1, IRF6, TBX10, PAX9
2MP:00036318.3BMP4, TGFB3, MSX1, MID1, TBX10, FGFR1
3MP:00053858.0TGFB3, TGFA, MSX1, CDH1, FGFR1, BMP4
4MP:00053888.0TBX22, MSX1, PAX9, TGFB3, TP63, BMP4
5MP:00053917.9BMP4, TP63, MSX1, MTHFR, TGFB3, TBX10
6MP:00053697.8MID1, PAX9, TGFA, FGFR1, BMP4, MSX1
7MP:00053767.8MTHFR, BMP4, CDH1, FOXE1, PVRL1, MSX1
8MP:00053717.7BMP4, MTHFR, FGFR1, MSX1, IRF6, PAX9
9MP:00053807.6TGFB3, TP63, BMP4, CDH1, MSX1, PAX9
10MP:00053897.6BMP4, MTHFR, CDH1, PAX9, TP63, TGFA
11MP:00053867.6TGFB3, PAX9, PVRL1, MSX1, BMP4, MID1
12MP:00053847.5TBX22, CDH1, FGFR1, BMP4, IRF6, TP63
13MP:00053797.2CDH1, FGFR1, BMP4, FOXE1, MSX1, TGFA
14MP:00028737.0TP63, PAX9, MID1, TBX10, CDH1, TBX22
15MP:00107717.0PVRL1, IRF6, TGFA, TP63, MSX1, FOXE1
16MP:00053906.6TP63, PAX9, TGFA, TBX22, BMP4, MTHFR
17MP:00053786.4MTHFR, BMP4, MID1, TP63, TGFA, PAX9
18MP:00053826.0TGFB3, FOXE1, FGFR1, TBX22, TBX10, BMP4
19MP:00053815.8TGFB3, PAX9, TGFA, BMP4, TP63, CDH1
20MP:00107685.5MSX1, PVRL1, IRF6, PAX9, TGFB3, TP63

Publications for Cleft Lip

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53PubMed
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Articles related to Cleft Lip:

(show top 50)    (show all 883)
idTitleAuthorsYear
1
The philtrum in cleft lip: review of anatomy and techniques for construction. (24240763)
2014
2
Short mandible - a possible risk factor for cleft palate with/without a cleft lip. (24397533)
2014
3
Hematological parameters in patients of cleft lip and cleft palate with special reference to eosinophil counts. (24275774)
2014
4
Tooth lengths of the permanent upper incisors in patients with cleft lip and palate determined with cone beam computed tomography. (22428573)
2013
5
Self-image perception of 171 children and adolescents with cleft lip and palate from 22 countries. (23789006)
2013
6
Bilateral submandibular gland aplasia with hypertrophy of the sublingual glands of a patient with a cleft lip and palate: case report. (24036837)
2013
7
Craniofacial cephalometric morphology and later need for orthognathic surgery in 6-year-old children with bilateral cleft lip and palate. (23477626)
2013
8
Facial attractiveness of patients with unilateral cleft lip and palate and of controls assessed by laypersons and professionals. (23832974)
2013
9
Three-dimensional analysis of the pharyngeal airway morphology in growing Japanese girls with and without cleft lip and palate. (22449605)
2012
10
Current surgical management of bilateral cleft lip in North America. (22634650)
2012
11
Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate. (23029012)
2012
12
Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans. (22508319)
2012
13
Recovering the personal identity of an elderly patient with cleft lip: a case report. (22943775)
2012
14
Preliminary study of Korean orthodontic residents' current concepts and knowledge of cleft lip and palate management. (23112940)
2012
15
Cleft lip and palate: an objective measure outcome study. (22842412)
2012
16
Africa has unique and urgent barriers to cleft care: lessons from practitioners at the Pan-African Congress on Cleft Lip and Palate. (22826739)
2012
17
Maxillary advancement with conventional orthognathic surgery in patients with cleft lip and palate: is it a stable technique? (22677329)
2012
18
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. (22863734)
2012
19
Stress-coping and cortisol analysis in patients with non-syndromic cleft lip and palate: an explorative study. (22911731)
2012
20
The comparison of psychological adjustment of patients with cleft lip and palate after maxillary distraction osteogenesis and conventional orthognathic surgery. (23083956)
2012
21
A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation. (22664659)
2012
22
Effectiveness of pre-surgical infant orthopedic treatment for cleft lip and palate patients: a systematic review and meta-analysis. (23020693)
2012
23
Early correction of septum JJ deformity in unilateral cleft lip-cleft palate. (22929267)
2012
24
Perceptual speech assessment after maxillary advancement osteotomy in patients with a repaired cleft lip and palate. (22783526)
2012
25
Early dental arch relationships as treatment outcome in children with complete unilateral cleft lip and palate in northeastern Thailand. (22423417)
2011
26
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. (21567929)
2011
27
The CRISPLD2 gene is involved in cleft lip and/or cleft palate in a Chinese population. (21800413)
2011
28
New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate. (21564312)
2011
29
No association between polymorphisms in cubilin, a gene of the homocysteine metabolism and the risk of non-syndromic cleft lip with or without cleft palate. (21781439)
2011
30
Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate. (21462296)
2011
31
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. (20944926)
2010
32
Filipino explanatory models of cleft lip with or without cleft palate. (19860507)
2010
33
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. (19249007)
2009
34
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. (19676059)
2009
35
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. (18640039)
2008
36
Association of transforming growth factor-alpha gene polymorphism and environment factors with nonsyndromic cleft lip with or without cleft palate in Han nationality]. (17629209)
2007
37
Cross-sectional evaluation of the presence of gingival recession in individuals with cleft lip and palate. (17199536)
2007
38
Genetic evidence for the role of loci at 19q13 in cleft lip and palate. (16740910)
2006
39
Genetic polymorphisms of GSTM1 and GSTT1 in mothers of children with isolated cleft lip with or without cleft palate]. (16521944)
2005
40
A case of Yunis-Varon syndrome complicated with complete cleft lip and palate. (14755473)
2004
41
Osseointegrated implants in the oral rehabilitation of a patient with cleft lip and palate and ectodermal dysplasia: a case report. (15623068)
2004
42
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. (11459326)
2001
43
Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). (11746036)
2001
44
Transforming growth factor-alpha (TGFA): genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only. (10552925)
1999
45
Anencephaly with spinal dysraphism, cleft lip and palate and limb reduction defects. (7981865)
1994
46
Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. (1361101)
1992
47
Discordant anencephaly with a cleft lip and palate in a pergonal-induced triplet pregnancy. (1453300)
1992
48
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. (2012138)
1991
49
Aicardi syndrome with holoprosencephaly and cleft lip and palate. (3508052)
1987
50
FAMILIAL ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY) WITH MEDIAN CLEFT LIP AND PALATE. REPORT OF PATIENT WITH 46 CHROMOSOMES. (14079950)
1963

Variations for Cleft Lip

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Expression for genes affiliated with Cleft Lip

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cleft Lip

Search GEO for disease gene expression data for Cleft Lip.

Pathways for genes affiliated with Cleft Lip

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51PathCards, 39NCBI BioSystems Database, 31KEGG, 5Cell Signaling Technology, 54QIAGEN
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Pathways related to Cleft Lip according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CDH1, PVRL1
29.7TGFB3, FGFR1
39.4FGFR1, CDH1, PVRL1
49.4CDH1, BMP4, TGFB3
59.2TGFA, TGFB3, FGFR1
6
Show member pathways
Signaling Pathways in Glioblastoma39
9.1FGFR1, CDH1, TGFA
79.0FGFR1, CDH1, BMP4, MSX1
89.0BMP4, PAX9, TGFB3
9
Show member pathways
8.9TGFA, TGFB3, BMP4, FGFR1
10
Show member pathways
8.9TGFA, TGFB3, BMP4, FGFR1
11
Show member pathways
8.9TGFA, TGFB3, BMP4, FGFR1
12
Show member pathways
8.9TGFA, TGFB3, BMP4, FGFR1
13
Show member pathways
8.9TGFA, TGFB3, BMP4, FGFR1
14
Show member pathways
8.9TGFA, TGFB3, BMP4, FGFR1
15
Show member pathways
8.9FGFR1, BMP4, TGFB3, TGFA
16
Show member pathways
8.9FGFR1, BMP4, TGFB3, TGFA
17
Show member pathways
8.4TGFA, TGFB3, BMP4, CDH1, FGFR1
18
Show member pathways
8.4TGFA, TGFB3, BMP4, CDH1, FGFR1
198.4TGFA, TGFB3, BMP4, CDH1, FGFR1
20
Show member pathways
8.4TGFA, TGFB3, BMP4, CDH1, FGFR1
21
Show member pathways
8.2TGFA, TGFB3, PVRL1, BMP4, CDH1, FGFR1

Compounds for genes affiliated with Cleft Lip

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46Novoseek, 62Tocris Bioscience, 25HMDB, 52PharmGKB, 30IUPHAR, 12DrugBank, 3BitterDB
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Compounds related to Cleft Lip according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1cyclopamine46 6211.0CDH1, BMP4
2multivitamin469.9TGFA, MTHFR
3chi 2469.9CDH1, MTHFR
4b 723469.8TP63, CDH1
5heparan sulfate46 2510.7FGFR1, BMP4, PVRL1
6paraffin469.7TGFB3, TGFA, TP63
7p00001469.5MTHFR, CDH1
8raloxifene46 52 30 1212.5TGFA, TGFB3, CDH1
9nickel46 2510.5CDH1, TGFA
10progestin469.5CDH1, TGFB3, TGFA
11bromodeoxyuridine469.4TP63, TGFA, BMP4, FGFR1
12gnrh469.3FGFR1, TGFB3, TGFA
13folate469.3TGFA, MTHFR, CDH1
14matrigel469.3CDH1, BMP4, TGFA, TP63
15ribonucleic acid469.2TGFA, TGFB3, BMP4, FGFR1
16tgf beta1469.2TGFA, TGFB3, BMP4, CDH1
1712-o-tetradecanoylphorbol 13-acetate469.2TGFA, PVRL1, CDH1, FGFR1
18methotrexate52 46 1211.2TGFA, MTHFR, CDH1
19azathioprine46 3 52 1212.2TGFA, MTHFR, BMP4, CDH1
205fluorouracil469.2CDH1, MTHFR, TGFB3, TGFA
21pd 98,059469.0TGFA, BMP4, CDH1, FGFR1
22ly294002469.0TGFA, BMP4, CDH1, FGFR1
23steroid469.0FGFR1, BMP4, TGFB3, TGFA, TP63
24adenylate468.9TGFA, BMP4, CDH1, FGFR1
25dopamine46 30 25 1211.9FGFR1, BMP4, MTHFR, TGFB3, TGFA
26agar468.8FGFR1, CDH1, TGFA
27glutamate468.8TP63, TGFA, MTHFR, CDH1, FGFR1
28heparin46 30 25 1211.7TGFA, MTHFR, BMP4, CDH1, FGFR1
29thymidine46 259.7TP63, TGFA, TGFB3, MTHFR, BMP4, FGFR1
30progesterone46 30 62 25 1212.6TP63, TGFA, TGFB3, BMP4, CDH1, FGFR1
31vegf468.6TP63, TGFA, TGFB3, BMP4, CDH1, FGFR1
32cysteine468.6TGFA, MTHFR, BMP4, CDH1, FGFR1
33testosterone46 62 25 1211.6TP63, TGFA, TGFB3, MTHFR, CDH1, FGFR1
34tyrosine468.3TP63, TGFA, TGFB3, PVRL1, BMP4, CDH1
35estrogen468.2TP63, TGFA, TGFB3, MTHFR, BMP4, CDH1
36retinoic acid46 259.0FGFR1, TP63, TGFA, TGFB3, MSX1, MTHFR

GO Terms for genes affiliated with Cleft Lip

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17Gene Ontology
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Cellular components related to Cleft Lip according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.5FOXE1, MSX1, TP63
2cell-cell adherens junctionGO:0059139.5CDH1, PVRL1
3nucleusGO:0056346.2FGFR1, TP63, TGFA, TGFB3, PAX9, IRF6

Biological processes related to Cleft Lip according to GeneCards/GeneDecks:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1cloacal septationGO:06019710.3BMP4, TP63
2keratinocyte proliferationGO:04361610.3TP63, IRF6
3smooth muscle tissue developmentGO:04874510.2TP63, BMP4
4positive regulation of BMP signaling pathwayGO:03051310.2BMP4, MSX1
5positive regulation of SMAD protein import into nucleusGO:06039110.1BMP4, TGFB3
6protein localization to nucleusGO:03450410.1BMP4, MSX1
7middle ear morphogenesisGO:04247410.1MSX1, FGFR1
8positive regulation of collagen biosynthetic processGO:03296710.1TGFB3, BMP4
9lens morphogenesis in camera-type eyeGO:00208910.1FOXE1, PVRL1
10embryonic hindlimb morphogenesisGO:03511610.0MSX1, BMP4
11odontogenesis of dentin-containing toothGO:04247510.0TP63, MSX1, BMP4
12positive regulation of pathway-restricted SMAD protein phosphorylationGO:01086210.0TGFB3, BMP4
13lung alveolus developmentGO:04828610.0TGFB3, BMP4
14hair follicle morphogenesisGO:0310699.9FOXE1, TP63
15positive regulation of bone mineralizationGO:0305019.9TGFB3, BMP4
16midbrain developmentGO:0309019.9MSX1, FGFR1
17pituitary gland developmentGO:0219839.8MSX1, BMP4, CDH1
18cell-cell junction organizationGO:0452169.8CDH1, PVRL1, TGFB3
19adherens junction organizationGO:0343329.8CDH1, PVRL1
20regulation of odontogenesisGO:0424819.8MSX1, PAX9
21positive regulation of mesenchymal cell proliferationGO:0020539.8TP63, FGFR1
22negative regulation of cell proliferationGO:0082859.6TGFB3, IRF6, MSX1, BMP4
23in utero embryonic developmentGO:0017019.5FGFR1, MSX1, TGFB3
24face morphogenesisGO:0603259.5TGFB3, PAX9, MSX1
25negative regulation of apoptotic processGO:0430669.5TP63, TGFA, MSX1, BMP4
26chondrocyte differentiationGO:0020629.4FGFR1, BMP4
27odontogenesisGO:0424769.4BMP4, PAX9, TGFB3
28positive regulation of transcription, DNA-templatedGO:0458938.7CDH1, BMP4, FOXE1, IRF6, TGFB3, TP63
29negative regulation of transcription from RNA polymerase II promoterGO:0001228.5TP63, MSX1, FOXE1, BMP4, TBX22, FGFR1
30negative regulation of transcription, DNA-templatedGO:0458928.3TP63, PAX9, FOXE1, BMP4, TBX22

Molecular functions related to Cleft Lip according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:0508399.8CDH1, PVRL1
2growth factor activityGO:0080839.0BMP4, TGFB3, TGFA
3sequence-specific DNA binding transcription factor activityGO:0037008.5TP63, IRF6, FOXE1, TBX10, TBX22
4DNA bindingGO:0036777.8TP63, PAX9, IRF6, FOXE1, TBX10, TBX22
5protein bindingGO:0055156.7FGFR1, TP63, TGFA, TGFB3, CLPTM1, PAX9

Products for genes affiliated with Cleft Lip

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  • Antibodies
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Sources for Cleft Lip

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet