MCID: UNP005
MIFTS: 26

Uniparental Disomy, Paternal, Chromosome 14 malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Uniparental Disomy, Paternal, Chromosome 14

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48OMIM, 34MalaCards
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MalaCards: 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:48 608149

Aliases & Classifications for Uniparental Disomy, Paternal, Chromosome 14

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44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS, 50Orphanet, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

uniparental disomy, paternal, chromosome 14 44 21 23 63
paternal uniparental disomy of chromosome 14 50 48
paternal uniparental disomy 14 44
upd(14)pat 50


External Ids:

OMIM48 608149
MESH via Orphanet37 C536471
ICD10 via Orphanet27 Q99.8
UMLS via Orphanet64 C1842466

Related Diseases for Uniparental Disomy, Paternal, Chromosome 14

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18GeneCards, 19GeneDecks
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Symptoms for Uniparental Disomy, Paternal, Chromosome 14

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48OMIM
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Clinical features from OMIM:

608149

Drugs & Therapeutics for Uniparental Disomy, Paternal, Chromosome 14

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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 Uniparental Disomy, Paternal, Chromosome 14

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Genetic Tests for Uniparental Disomy, Paternal, Chromosome 14

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21GeneTests, 23GTR
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Genetic tests related to Uniparental Disomy, Paternal, Chromosome 14:

id Genetic test Affiliating Genes
1 Paternal Uniparental Disomy, Chromosome 1421
2 Uniparental Disomy, Paternal, Chromosome 1423

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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38MGI
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MGI Mouse Phenotypes related to Uniparental Disomy, Paternal, Chromosome 14:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0DLK1, MEG3
2MP:00053708.7DLK1, MEG3
3MP:00053808.6DLK1, RTL1, MEG3
4MP:00053788.5RTL1, MEG3, DLK1
5MP:00107688.4MEG3, DLK1, RTL1

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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Uniparental Disomy, Paternal, Chromosome 14

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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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17Gene Ontology
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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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Sources for Uniparental Disomy, Paternal, Chromosome 14

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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