MCID: UNP005
MIFTS: 26

Uniparental Disomy, Paternal, Chromosome 14 malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories
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Summaries for Uniparental Disomy, Paternal, Chromosome 14

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MalaCards based summary: Uniparental Disomy, Paternal, Chromosome 14, also known as paternal uniparental disomy of chromosome 14, is related to hepatoblastoma and beckwith-wiedemann syndrome. An important gene associated with Uniparental Disomy, Paternal, Chromosome 14 is DLK1 (delta-like 1 homolog (Drosophila)). Related mouse phenotypes are muscle and liver/biliary system.

Description from OMIM:46 608149

Aliases & Classifications for Uniparental Disomy, Paternal, Chromosome 14

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Uniparental Disomy, Paternal, Chromosome 14, Aliases & Descriptions:

Name: Uniparental Disomy, Paternal, Chromosome 14 42 20 22 62
Paternal Uniparental Disomy of Chromosome 14 48 46
 
Paternal Uniparental Disomy 14 42
Upd(14)pat 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


External Ids:

OMIM46 608149
MESH via Orphanet35 C536471
ICD10 via Orphanet26 Q99.8
UMLS via Orphanet63 C1842466

Related Diseases for Uniparental Disomy, Paternal, Chromosome 14

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Symptoms for Uniparental Disomy, Paternal, Chromosome 14

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Clinical features from OMIM:

608149

Drugs & Therapeutics for Uniparental Disomy, Paternal, Chromosome 14

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Drug clinical trials:

Search ClinicalTrials for Uniparental Disomy, Paternal, Chromosome 14

Search NIH Clinical Center for Uniparental Disomy, Paternal, Chromosome 14

Genetic Tests for Uniparental Disomy, Paternal, Chromosome 14

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Genetic tests related to Uniparental Disomy, Paternal, Chromosome 14:

id Genetic test Affiliating Genes
1 Paternal Uniparental Disomy, Chromosome 1420
2 Uniparental Disomy, Paternal, Chromosome 1422

Anatomical Context for Uniparental Disomy, Paternal, Chromosome 14

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Animal Models for Uniparental Disomy, Paternal, Chromosome 14 or affiliated genes

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MGI Mouse Phenotypes related to Uniparental Disomy, Paternal, Chromosome 14:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0DLK1, MEG3
2MP:00053708.7DLK1, MEG3
3MP:00053808.6DLK1, MEG3, RTL1
4MP:00053788.5DLK1, MEG3, RTL1
5MP:00107688.4RTL1, MEG3, DLK1

Publications for Uniparental Disomy, Paternal, Chromosome 14

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Variations for Uniparental Disomy, Paternal, Chromosome 14

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Expression for genes affiliated with Uniparental Disomy, Paternal, Chromosome 14

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Expression patterns in normal tissues for genes affiliated with Uniparental Disomy, Paternal, Chromosome 14

Search GEO for disease gene expression data for Uniparental Disomy, Paternal, Chromosome 14.

Pathways for genes affiliated with Uniparental Disomy, Paternal, Chromosome 14

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Compounds for genes affiliated with Uniparental Disomy, Paternal, Chromosome 14

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GO Terms for genes affiliated with Uniparental Disomy, Paternal, Chromosome 14

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Biological processes related to Uniparental Disomy, Paternal, Chromosome 14 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1multicellular organismal developmentGO:0072759.3DLK1, RTL1

Products for genes affiliated with Uniparental Disomy, Paternal, Chromosome 14

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  • Antibodies
  • Proteins
  • Lysates

Sources for Uniparental Disomy, Paternal, Chromosome 14

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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