MCID: OCL047

Oculodentodigital Dysplasia, Autosomal Recessive malady

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Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

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47OMIM, 33MalaCards
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MalaCards: Oculodentodigital Dysplasia, Autosomal Recessive is related to hypoplastic left heart syndrome 1 and atrioventricular septal defect 3. An important gene associated with Oculodentodigital Dysplasia, Autosomal Recessive is GJA1 (gap junction protein, alpha 1, 43kDa).

Description from OMIM:47 257850

Aliases & Classifications for Oculodentodigital Dysplasia, Autosomal Recessive

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47OMIM
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Aliases & Descriptions:

oculodentodigital dysplasia, autosomal recessive 47


Related Diseases for Oculodentodigital Dysplasia, Autosomal Recessive

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17GeneCards, 18GeneDecks
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Diseases related to Oculodentodigital Dysplasia, Autosomal Recessive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypoplastic left heart syndrome 110.0GJA1
2atrioventricular septal defect 310.0GJA1
3oculodentodigital dysplasia10.0GJA1

Symptoms for Oculodentodigital Dysplasia, Autosomal Recessive

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47OMIM
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Symptoms by clinical synopsis from OMIM:

257850

Clinical features from OMIM:

257850

Drugs & Therapeutics for Oculodentodigital Dysplasia, Autosomal Recessive

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Oculodentodigital Dysplasia, Autosomal Recessive

Search NIH Clinical Center for Oculodentodigital Dysplasia, Autosomal Recessive

Genetic Tests for Oculodentodigital Dysplasia, Autosomal Recessive

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Anatomical Context for Oculodentodigital Dysplasia, Autosomal Recessive

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Animal Models for Oculodentodigital Dysplasia, Autosomal Recessive or affiliated genes

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Publications for Oculodentodigital Dysplasia, Autosomal Recessive

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Variations for Oculodentodigital Dysplasia, Autosomal Recessive

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Oculodentodigital Dysplasia, Autosomal Recessive:

1
id Gene Name Type Significance SNP ID Assembly Location
1GJA1NM_000165.3(GJA1): c.97C> T (p.Arg33Ter)single nucleotide variantPathogenicrs121912970GRCh37Chr 6, 121768090: 121768090
2GJA1NM_000165.3(GJA1): c.227G> A (p.Arg76His)single nucleotide variantPathogenicrs267606844GRCh37Chr 6, 121768220: 121768220

Expression for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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Pathways for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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Compounds for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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GO Terms for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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Products for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculodentodigital Dysplasia, Autosomal Recessive

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet