Uniparental Disomy of Chromosome 20 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Uniparental Disomy of Chromosome 20

MalaCards integrated aliases for Uniparental Disomy of Chromosome 20:

Name: Uniparental Disomy of Chromosome 20 ⁵⁸

Upd(20) ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases

See all MalaCards categories (disease lists)

External Ids:

Orphanet ⁵⁸ ORPHA263059

Sources

Summaries for Uniparental Disomy of Chromosome 20

MalaCards based summary : Uniparental Disomy of Chromosome 20, also known as upd(20), is related to paternal uniparental disomy of chromosome 20 and mulchandani-bhoj-conlin syndrome.

Sources

Related Diseases for Uniparental Disomy of Chromosome 20

Diseases in the Uniparental Disomy of Chromosome 1 family:

Chromosome 1, Uniparental Disomy 1q12 Q21	Chromosome 10, Uniparental Disomy
Chromosome 16, Uniparental Disomy	Chromosome 21, Uniparental Disomy
Chromosome 5, Uniparental Disomy	Uniparental Disomy of Chromosome 11
Uniparental Disomy of Chromosome 2	Uniparental Disomy of Chromosome 6
Uniparental Disomy of Chromosome 15	Uniparental Disomy of Chromosome 20
Uniparental Disomy of Chromosome 13	Uniparental Disomy of Chromosome 14
Uniparental Disomy of Chromosome 7

Diseases related to Uniparental Disomy of Chromosome 20 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	paternal uniparental disomy of chromosome 20	12.6
2	mulchandani-bhoj-conlin syndrome	12.1
3	nondisjunction	10.1
4	chromosomal triplication	10.1
5	partial trisomy of chromosome 20	10.1
6	maternal uniparental disomy	10.1
7	silver-russell syndrome 1	10.1
8	microcephaly	10.1
9	chromosome 20 trisomy	10.1
10	diencephalic syndrome	10.1

Graphical network of the top 20 diseases related to Uniparental Disomy of Chromosome 20:

Sources

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 20

Sources

Drugs & Therapeutics for Uniparental Disomy of Chromosome 20

Search Clinical Trials , NIH Clinical Center for Uniparental Disomy of Chromosome 20

Sources

Genetic Tests for Uniparental Disomy of Chromosome 20

Sources

Anatomical Context for Uniparental Disomy of Chromosome 20

Sources

Publications for Uniparental Disomy of Chromosome 20

Articles related to Uniparental Disomy of Chromosome 20:

#	Title	Authors	PMID	Year
1	High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B. ⁶¹	Colson C...Richard N	30905746	2019
2	Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. ⁶¹	Mulchandani S...Conlin LK	26248010	2016
3	Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic Pierre Robin sequence: combinatorial effect of gene dosage and uniparental disomy. ⁶¹	Izumi K...Hidaka E	25847371	2015
4	Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. ⁶¹	Velissariou V...Petersen MB	12404100	2002

Sources

Genes for Uniparental Disomy of Chromosome 20

Sources

Variations for Uniparental Disomy of Chromosome 20

Sources

Expression for Uniparental Disomy of Chromosome 20

Search GEO for disease gene expression data for Uniparental Disomy of Chromosome 20.

Sources

Pathways for Uniparental Disomy of Chromosome 20

Sources

GO Terms for Uniparental Disomy of Chromosome 20

Sources

Sources for Uniparental Disomy of Chromosome 20

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia