MCID: ORF016

Orofacial Cleft 8 malady

Genetic diseases (common) category
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Summaries for Orofacial Cleft 8

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MalaCards based summary: Orofacial Cleft 8 An important gene associated with Orofacial Cleft 8 is TP63 (tumor protein p63).

Description from OMIM:46 129400

Aliases & Classifications for Orofacial Cleft 8

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Orofacial Cleft 8, Aliases & Descriptions:

Name: Orofacial Cleft 8 20 46 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Orofacial Cleft 8

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Symptoms for Orofacial Cleft 8

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Clinical features from OMIM:

129400

Drugs & Therapeutics for Orofacial Cleft 8

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Drug clinical trials:

Search ClinicalTrials for Orofacial Cleft 8

Search NIH Clinical Center for Orofacial Cleft 8

Genetic Tests for Orofacial Cleft 8

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Genetic tests related to Orofacial Cleft 8:

id Genetic test Affiliating Genes
1 Orofacial Cleft 820 TP63

Anatomical Context for Orofacial Cleft 8

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Animal Models for Orofacial Cleft 8 or affiliated genes

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Publications for Orofacial Cleft 8

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Variations for Orofacial Cleft 8

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UniProtKB/Swiss-Prot genetic disease variations for Orofacial Cleft 8:

64
id Symbol AA change Variation ID SNP ID
1TP63p.Arg318HisVAR_020873
2TP63p.Arg352GlyVAR_035127
3TP63p.Arg352GlyVAR_035127
4TP63p.Ile549ThrVAR_035128
5TP63p.Ser580ProVAR_035129

Clinvar genetic disease variations for Orofacial Cleft 8:

6
id Gene Name Type Significance SNP ID Assembly Location
1TP63NM_003722.4(TP63): c.953G> A (p.Arg318His)single nucleotide variantPathogenicrs121908840GRCh37Chr 3, 189585692: 189585692
2TP63TP63, 1-BP DEL, 1709AdeletionPathogenic
3TP63TP63, 1-BP DEL, 1859AdeletionPathogenic
4TP63NM_003722.4(TP63): c.1646T> C (p.Ile549Thr)single nucleotide variantPathogenicrs121908845GRCh37Chr 3, 189607267: 189607267
5TP63NM_003722.4(TP63): c.1738T> C (p.Ser580Pro)single nucleotide variantPathogenicrs121908846GRCh37Chr 3, 189608663: 189608663
6TP63TP63, 1-BP DEL, 1783CdeletionPathogenic
7TP63TP63, 11-BP DUP, NT1716duplicationPathogenic

Expression for genes affiliated with Orofacial Cleft 8

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Expression patterns in normal tissues for genes affiliated with Orofacial Cleft 8

Search GEO for disease gene expression data for Orofacial Cleft 8.

Pathways for genes affiliated with Orofacial Cleft 8

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Compounds for genes affiliated with Orofacial Cleft 8

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GO Terms for genes affiliated with Orofacial Cleft 8

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Products for genes affiliated with Orofacial Cleft 8

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  • Antibodies
  • Proteins
  • Lysates

Sources for Orofacial Cleft 8

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet