MCID: UNP005
MIFTS: 25

Uniparental Disomy, Paternal, Chromosome 14 malady

Neuronal diseases, Fetal diseases categories

Summaries for Uniparental Disomy, Paternal, Chromosome 14

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 MEG3 (maternally expressed 3 (non-protein coding)). Related mouse phenotypes are mortality/aging and embryogenesis.

Description from OMIM:46 608149

Aliases & Classifications for Uniparental Disomy, Paternal, Chromosome 14

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

uniparental disomy, paternal, chromosome 14 42 20 22 60
paternal uniparental disomy of chromosome 14 48 46
paternal uniparental disomy 14 42
upd(14)pat 48


External Ids:

OMIM46 608149
MESH via Orphanet35 C536471
ICD10 via Orphanet26 Q99.8
UMLS via Orphanet61 C1842466

Related Diseases for Uniparental Disomy, Paternal, Chromosome 14

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Clinical Features for Uniparental Disomy, Paternal, Chromosome 14

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

608149

Drugs & Therapeutics for Uniparental Disomy, Paternal, Chromosome 14

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Uniparental Disomy, Paternal, Chromosome 14

Drug clinical trials:

Search ClinicalTrials for Uniparental Disomy, Paternal, Chromosome 14

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

Search CenterWatch for Uniparental Disomy, Paternal, Chromosome 14

Genetic Tests for Uniparental Disomy, Paternal, Chromosome 14

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section

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

About this section
Sources:
36MGI
See all sources

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.5RTL1, DLK1, MEG3
2MP:00053808.4RTL1, DLK1, MEG3
3MP:00053788.2RTL1, DLK1, MEG3

Publications for Uniparental Disomy, Paternal, Chromosome 14

About this section

Genetic Variations for Uniparental Disomy, Paternal, Chromosome 14

About this section

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

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

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1multicellular organismal developmentGO:0072759.1RTL1, DLK1

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Uniparental Disomy, Paternal, Chromosome 14

About this section
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