MCID: PRT213
MIFTS: 12

Partial Duplication of Chromosome 19

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Partial Duplication of Chromosome 19

MalaCards integrated aliases for Partial Duplication of Chromosome 19:

Name: Partial Duplication of Chromosome 19 59
Partial Trisomy of Chromosome 19 59

Classifications:



External Ids:

Orphanet 59 ORPHA262687

Summaries for Partial Duplication of Chromosome 19

MalaCards based summary : Partial Duplication of Chromosome 19, also known as partial trisomy of chromosome 19, is related to autoimmune disease and duane retraction syndrome. An important gene associated with Partial Duplication of Chromosome 19 is KIR2DL1 (Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Long Cytoplasmic Tail 1), and among its related pathways/superpathways are Immune response Role of DAP12 receptors in NK cells and Allograft rejection.

Related Diseases for Partial Duplication of Chromosome 19

Diseases related to Partial Duplication of Chromosome 19 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autoimmune disease 10.0
2 duane retraction syndrome 10.0
3 isolated duane retraction syndrome 10.0

Symptoms & Phenotypes for Partial Duplication of Chromosome 19

Drugs & Therapeutics for Partial Duplication of Chromosome 19

Search Clinical Trials , NIH Clinical Center for Partial Duplication of Chromosome 19

Genetic Tests for Partial Duplication of Chromosome 19

Anatomical Context for Partial Duplication of Chromosome 19

Publications for Partial Duplication of Chromosome 19

Articles related to Partial Duplication of Chromosome 19:

# Title Authors PMID Year
1
Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome. 38
23952617 2015

Variations for Partial Duplication of Chromosome 19

Expression for Partial Duplication of Chromosome 19

Search GEO for disease gene expression data for Partial Duplication of Chromosome 19.

Pathways for Partial Duplication of Chromosome 19

GO Terms for Partial Duplication of Chromosome 19

Biological processes related to Partial Duplication of Chromosome 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 8.62 KIR2DL4 KIR2DL1

Sources for Partial Duplication of Chromosome 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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