MCID: TTH012
MIFTS: 11

Tooth Agenesis, Selective, 3 malady

Genetic diseases (common) category
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Summaries for Tooth Agenesis, Selective, 3

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MalaCards based summary: Tooth Agenesis, Selective, 3 and has symptoms including An important gene associated with Tooth Agenesis, Selective, 3 is PAX9 (paired box 9).

Description from OMIM:46 604625

Aliases & Classifications for Tooth Agenesis, Selective, 3

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Tooth Agenesis, Selective, 3, Aliases & Descriptions:

Name: Tooth Agenesis, Selective, 3 20 22 46


Classifications:

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


Related Diseases for Tooth Agenesis, Selective, 3

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Symptoms for Tooth Agenesis, Selective, 3

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Clinical features from OMIM:

604625

HPO human phenotypes related to Tooth Agenesis, Selective, 3:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 oligodontia HP:0000677

Drugs & Therapeutics for Tooth Agenesis, Selective, 3

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Drug clinical trials:

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Genetic Tests for Tooth Agenesis, Selective, 3

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Genetic tests related to Tooth Agenesis, Selective, 3:

id Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 320 22 PAX9

Anatomical Context for Tooth Agenesis, Selective, 3

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Animal Models for Tooth Agenesis, Selective, 3 or affiliated genes

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Publications for Tooth Agenesis, Selective, 3

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Variations for Tooth Agenesis, Selective, 3

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UniProtKB/Swiss-Prot genetic disease variations for Tooth Agenesis, Selective, 3:

64
id Symbol AA change Variation ID SNP ID
1PAX9p.Gly51SerVAR_015698

Clinvar genetic disease variations for Tooth Agenesis, Selective, 3:

6 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1PAX9PAX9, 1-BP INS, 219GinsertionPathogenic
2PAX9NM_006194.3(PAX9): c.340A> T (p.Lys114Ter)single nucleotide variantPathogenicrs104894467GRCh37Chr 14, 37132437: 37132437
3PAX9PAX9, DELdeletionPathogenic
4PAX9NM_006194.3(PAX9): c.271A> G (p.Lys91Glu)single nucleotide variantPathogenicrs28933373GRCh37Chr 14, 37132368: 37132368
5PAX9NM_006194.3(PAX9): c.62T> C (p.Leu21Pro)single nucleotide variantPathogenicrs28933970GRCh37Chr 14, 37132159: 37132159
6PAX9PAX9, 288-BP INSinsertionPathogenic
7PAX9NM_006194.3(PAX9): c.83G> C (p.Arg28Pro)single nucleotide variantPathogenicrs28933971GRCh37Chr 14, 37132180: 37132180
8PAX9NM_006194.3(PAX9): c.76C> T (p.Arg26Trp)single nucleotide variantPathogenicrs28933972GRCh37Chr 14, 37132173: 37132173
9PAX9NM_006194.3(PAX9): c.259A> T (p.Ile87Phe)single nucleotide variantPathogenicrs104894468GRCh37Chr 14, 37132356: 37132356
10PAX9PAX9, 1-BP INS, 793CinsertionPathogenic
11PAX9PAX9, 1A-Gsingle nucleotide variantPathogenic
12PAX9PAX9, 3-BP DEL, 24-BP INS, NT619indelPathogenic
13PAX9NM_006194.3(PAX9): c.151G> A (p.Gly51Ser)single nucleotide variantPathogenicrs104894469GRCh37Chr 14, 37132248: 37132248
14PAX9PAX9, 1-BP INS, 190GinsertionPathogenic
15PAX9NM_006194.3(PAX9): c.139C> T (p.Arg47Trp)single nucleotide variantPathogenicrs121917720GRCh37Chr 14, 37132236: 37132236

Expression for genes affiliated with Tooth Agenesis, Selective, 3

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Expression patterns in normal tissues for genes affiliated with Tooth Agenesis, Selective, 3

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Pathways for genes affiliated with Tooth Agenesis, Selective, 3

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Compounds for genes affiliated with Tooth Agenesis, Selective, 3

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GO Terms for genes affiliated with Tooth Agenesis, Selective, 3

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Products for genes affiliated with Tooth Agenesis, Selective, 3

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  • Antibodies
  • Proteins
  • Lysates

Sources for Tooth Agenesis, Selective, 3

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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