MCID: OCL047

Oculodentodigital Dysplasia, Autosomal Recessive malady

Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

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48OMIM, 34MalaCards
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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:48 257850

Aliases & Classifications for Oculodentodigital Dysplasia, Autosomal Recessive

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48OMIM
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Aliases & Descriptions:

oculodentodigital dysplasia, autosomal recessive 48


Related Diseases for Oculodentodigital Dysplasia, Autosomal Recessive

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Oculodentodigital Dysplasia, Autosomal Recessive

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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, 16Gene 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
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