CHROMOSOMAL REGION Disease mapped: Adolescent idiopathic scoliosis Method: Md Chromosome: 19 Genomic position start-stop: 0-10000000 length: 10000001 Band: 19p13.3

LINKS EntrezGene: [260402] MEDLINE: OMIM: [181800] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY

A set of 545 papers related to this disease was derived from MEDLINE using the query:
Adolescent [tw] AND idiopathic [tw] AND scoliosis [tw]

MESH-C TERMS The MeSH-C terms associated to the derived papers were collected. Here you can see the terms ordered by the number of papers where they were found (number in brackets). Scoliosis [538] Postoperative Complications [47] Kyphosis [33] Lordosis [16] Disease Progression [14] Blood Loss, Surgical [8] Back Pain [7] Bone Diseases, Metabolic [7] Intraoperative Complications [5] Low Back Pain [5] We show here only the 10 most frequent. You can also see the complete list of 112 MeSH-C terms. Each name is linked to the corresponding term description by the NLM. The number in brackets is linked to the list of papers that contained the term. The points to the related MeSH-D terms.

GO terms We computed the GO terms associated to the MeSH-C terms selected for this disease. Here you can see those with higher score of association. 0.000354 circadian rhythm (process) 0.000137 G-protein signaling, coupled to cyclic nucleotide second messenger (process) Each name is linked to the corresponding term description by GO. The number indicates the strength of association to Adolescent idiopathic scoliosis. The points to the related MeSH-D terms.

Follow the green arrows to navigate MeSH-C / MeSH-D / GO-terms relationship derived from our analysis of the whole MEDLINE database, and used to relate the phenotype of this disease to terms of gene functionality.

OVERVIEW OF CANDIDATES IN THE REGION

The graph represents the BLASTX hits found in the region and the genes predicted or known in the region.

Legend:

BLASTX hits

RefSeq genes

Ensembl genes

> 1e-10

> 1e-20

> 1e-50

> 1e-80

> 1e-100

> 0

Graph with GO scoring vs genomic position [PostScript graphic]

0.000000 transcription factor activity (function)

0.000000 nucleus (component)

0.000000 transcription (process)

0.000000 regulation of transcription, DNA-dependent (process)

0.000000 muscle development (process)

0.000354 circadian rhythm (process)

0.000000 zinc ion binding (function)

0.000000 metal ion binding (function)
BLASTX hits:

E-value 4e-14 prot=246..332 DNA=1805758..1805525 fr=387 per=44/87 [EST]

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CANDIDATE 2
DNA (Note) PROTEIN: [NP_001310]
R-score = 0.001668; GO-score = 0.000354

0 bp

Chromosome 19

10000000 bp

1 aa

NP_038795

416 aa

Similarity found to protein:
[27373|NP_038795] | Mus musculus | casein kinase 1 epsilon | length=416 aa
GO annotation:

0.000000 nucleotide binding (function)

0.000000 protein kinase activity (function)

0.000000 protein serine/threonine kinase activity (function)

0.000000 protein-tyrosine kinase activity (function)

0.000000 ATP binding (function)

0.000000 protein amino acid phosphorylation (process)

0.000354 circadian rhythm (process)

0.000000 Wnt receptor signaling pathway (process)

0.000000 kinase activity (function)

0.000000 transferase activity (function)
BLASTX hits:

E-value 4e-62 prot=24..217 DNA=1929343..1930197 fr=416 per=113/285 [EST]

E-value 4e-62 prot=247..290 DNA=1930446..1930577 fr=416 per=25/44 [EST]

E-value 4e-62 prot=217..249 DNA=1930265..1930363 fr=416 per=14/33 [EST]

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CANDIDATE 3
DNA (Note) PROTEIN: [NP_003766]
R-score = 0.002819; GO-score = 0.000137

0 bp

Chromosome 19

10000000 bp

1 aa

NP_036284

353 aa

Similarity found to protein:
[23566|NP_036284] | Homo sapiens | endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7 | length=353 aa
GO annotation:

0.000000 lysosphingolipid and lysophosphatidic acid receptor activity (function)

0.000000 receptor activity (function)

0.000000 plasma membrane (component)

0.000000 integral to plasma membrane (component)

0.000000 signal transduction (process)

0.000137 G-protein signaling, coupled to cyclic nucleotide second messenger (process)

0.000000 elevation of cytosolic calcium ion concentration (process)

0.000000 synaptic transmission (process)

0.000000 lipid binding (function)
BLASTX hits:

E-value 1e-22 prot=53..310 DNA=3129996..3130763 fr=353 per=92/261 [EST]