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 58
Partial Trisomy of Chromosome 19 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 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 duane retraction syndrome and autoimmune disease. 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 phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 duane retraction syndrome 27.7 KIR3DP1 KIR3DL3 KIR2DL4 KIR2DL1
2 autoimmune disease 10.0
3 isolated duane retraction syndrome 10.0
4 vogt-koyanagi-harada disease 9.2 KIR3DL3 KIR2DL1

Symptoms & Phenotypes for Partial Duplication of Chromosome 19

GenomeRNAi Phenotypes related to Partial Duplication of Chromosome 19 according to GeneCards Suite gene sharing:

26 (show top 50) (show all 55)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.6 KIR2DL4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.6 KIR2DL4 KIR3DL3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.6 KIR2DL4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.6 KIR3DL3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.6 KIR2DL1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 10.6 KIR2DL1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.6 KIR2DL4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 10.6 KIR3DL3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.6 KIR2DL1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.6 KIR3DL3 KIR2DL1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.6 KIR2DL1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.6 KIR2DL4 KIR3DL3
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.6 KIR3DL3 KIR2DL1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.6 KIR2DL4
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 10.6 KIR2DL1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.6 KIR2DL4
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.6 KIR2DL4
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.6 KIR3DL3 KIR2DL1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.6 KIR3DL3
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.6 KIR2DL4
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10.6 KIR2DL4 KIR2DL1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.53 KIR3DL3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.53 KIR2DL1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.53 KIR2DL4
25 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.53 KIR3DL3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.53 KIR2DL1 KIR2DL4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.53 KIR3DL3
28 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.53 KIR2DL1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.53 KIR3DL3
30 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.53 KIR3DL3
31 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.53 KIR2DL4
32 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.53 KIR2DL1 KIR2DL4
33 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.53 KIR2DL1 KIR2DL4 KIR3DL3
34 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.53 KIR2DL1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.53 KIR3DL3
36 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.53 KIR2DL1 KIR2DL4 KIR3DL3
37 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.53 KIR2DL1 KIR3DL3
38 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.53 KIR2DL4
39 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.53 KIR3DL3
40 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.53 KIR3DL3
41 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.53 KIR3DL3
42 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.53 KIR3DL3
43 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.53 KIR3DL3
44 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.53 KIR2DL1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.53 KIR2DL4
46 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.53 KIR3DL3
47 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.53 KIR2DL4
48 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.53 KIR2DL1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.53 KIR2DL4
50 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.53 KIR2DL4 KIR3DL3

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. 61
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.73 KIR2DL4 KIR2DL1
2
Show member pathways
11.54 KIR3DL3 KIR2DL4 KIR2DL1
3 11.36 KIR2DL4 KIR2DL1
4 11.09 KIR2DL4 KIR2DL1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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