MCID: ORF016

Orofacial Cleft 8 malady

Genetic diseases (common) category

Summaries for Orofacial Cleft 8

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Orofacial Cleft 8 An important gene associated with Orofacial Cleft 8 is TP63 (tumor protein p63).

Description from OMIM:48 129400

Aliases & Classifications for Orofacial Cleft 8

About this section
Sources:
21GeneTests, 48OMIM, 63UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

orofacial cleft 8 21 48 63


Related Diseases for Orofacial Cleft 8

About this section

Symptoms for Orofacial Cleft 8

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

129400

Drugs & Therapeutics for Orofacial Cleft 8

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Orofacial Cleft 8

Drug clinical trials:

Search ClinicalTrials for Orofacial Cleft 8

Search NIH Clinical Center for Orofacial Cleft 8

Search CenterWatch for Orofacial Cleft 8

Genetic Tests for Orofacial Cleft 8

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Orofacial Cleft 8:

id Genetic test Affiliating Genes
1 Orofacial Cleft 821 TP63

Anatomical Context for Orofacial Cleft 8

About this section

Animal Models for Orofacial Cleft 8 or affiliated genes

About this section

Publications for Orofacial Cleft 8

About this section

Variations for Orofacial Cleft 8

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65
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:

1
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Orofacial Cleft 8

About this section

GO Terms for genes affiliated with Orofacial Cleft 8

About this section

Products for genes affiliated with Orofacial Cleft 8

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Orofacial Cleft 8

About this section
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