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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47OMIM, 33MalaCards
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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:47 608149

Aliases & Classifications for Uniparental Disomy, Paternal, Chromosome 14

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43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS 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 43 20 22 62
paternal uniparental disomy of chromosome 14 49 47
paternal uniparental disomy 14 43
upd(14)pat 49


External Ids:

OMIM47 608149
MESH via Orphanet36 C536471
ICD10 via Orphanet26 Q99.8
UMLS via Orphanet63 C1842466

Related Diseases for Uniparental Disomy, Paternal, Chromosome 14

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17GeneCards, 18GeneDecks
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Symptoms for Uniparental Disomy, Paternal, Chromosome 14

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47OMIM
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Clinical features from OMIM:

608149

Drugs & Therapeutics for Uniparental Disomy, Paternal, Chromosome 14

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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

Genetic Tests for Uniparental Disomy, Paternal, Chromosome 14

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20GeneTests, 22GTR
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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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37MGI
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MGI Mouse Phenotypes related to Uniparental Disomy, Paternal, Chromosome 14:

37
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, 15Gene 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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16Gene 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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  • Antibodies
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Sources for Uniparental Disomy, Paternal, Chromosome 14

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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