MCID: MTR034
MIFTS: 23

Maternal Uniparental Disomy, Chromosome 14 malady

Neuronal diseases, Endocrine diseases, Fetal diseases categories

Summaries for Maternal Uniparental Disomy, Chromosome 14

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MalaCards: Maternal Uniparental Disomy, Chromosome 14, also known as maternal uniparental disomy of chromosome 14, is related to west syndrome and pituitary adenoma. An important gene associated with Maternal Uniparental Disomy, Chromosome 14 is RTL1 (retrotransposon-like 1). Related mouse phenotypes are liver/biliary system and muscle.

Aliases & Classifications for Maternal Uniparental Disomy, Chromosome 14

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20GeneTests, 22GTR, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

maternal uniparental disomy, chromosome 14 20 22
maternal uniparental disomy of chromosome 14 48
upd(14)mat 48


External Ids:

ICD10 via Orphanet26 Q99.8

Related Diseases for Maternal Uniparental Disomy, Chromosome 14

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Maternal Uniparental Disomy, Chromosome 14:



Diseases related to maternal uniparental disomy, chromosome 14

Clinical Features for Maternal Uniparental Disomy, Chromosome 14

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Drugs & Therapeutics for Maternal Uniparental Disomy, Chromosome 14

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Maternal Uniparental Disomy, Chromosome 14

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Genetic Tests for Maternal Uniparental Disomy, Chromosome 14

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20GeneTests, 22GTR
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Genetic tests related to Maternal Uniparental Disomy, Chromosome 14:

id Genetic test Affiliating Genes
1 Maternal Uniparental Disomy, Chromosome 1420
2 Uniparental Disomy of Chromosome 14, Maternal22

Anatomical Context for Maternal Uniparental Disomy, Chromosome 14

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

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36MGI
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MGI Mouse Phenotypes related to Maternal Uniparental Disomy, Chromosome 14:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8GNRH1, MEG3, DLK1
2MP:00053698.2FOXG1, MEG3, DLK1
3MP:00053808.1FOXG1, MEG3, DLK1, RTL1
4MP:00053768.0DLK1, MEG3, FOXG1, GNRH1
5MP:00053847.9DLK1, MEG3, FOXG1, GNRH1
6MP:00053787.6RTL1, DLK1, MEG3, FOXG1, GNRH1

Publications for Maternal Uniparental Disomy, Chromosome 14

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Genetic Variations for Maternal Uniparental Disomy, Chromosome 14

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Expression for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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Pathways for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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Compounds for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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

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16Gene Ontology
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Biological processes related to Maternal Uniparental Disomy, Chromosome 14 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1multicellular organismal developmentGO:0072759.0RTL1, DLK1, GNRH1

Products for genes affiliated with Maternal Uniparental Disomy, Chromosome 14

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  • Antibodies
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Sources for Maternal Uniparental Disomy, 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet