Analysis of Neuropathy, hereditary motor and sensory, Russe type
Analysis of Neuropathy, hereditary motor and sensory, Russe type G2D Home
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REASONS FOR ASSOCIATION OVERVIEW OF CANDIDATES BEST 10 CANDIDATES BEST 100 CANDIDATES

CHROMOSOMAL REGION
Disease mapped: Neuropathy, hereditary motor and sensory, Russe type
Method: Md
Chromosome: 10
Genomic position start-stop: 82950000-92950000
length: 10000001
Band: 10q23.2
 LINKS

EntrezGene: [59333]

MEDLINE:

OMIM: [605285] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY
A set of 1 papers related to this disease was derived from MEDLINE using the query:
Neuropathy [tw] AND hereditary [tw] AND motor [tw] AND sensory [tw] AND Russe [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).

Charcot-Marie-Tooth Disease [1]

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.

0.035806 connexon channel activity (function)
0.032226 connexon complex (component)
0.021723 gap junction (component)
0.010053 nerve ensheathment (process)
0.008214 intercellular junction assembly (process)
0.006467 cell death (process)
0.005969 peripheral nervous system development (process)
0.005476 ion transporter activity (function)
0.003449 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (function)
0.003338 homophilic cell adhesion (process)
We show here only the top 10. You can also see the complete list of 356 GO terms.

Each name is linked to the corresponding term description by GO. The number indicates the strength of association to Neuropathy, hereditary motor and sensory, Russe type. 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]

BEST SCORING 10 CANDIDATES
Here we show only the best scoring ten candidates but there are more. You can see the best scoring 100 candidates.

What is in a candidate?

CANDIDATE 1
DNA (Note) PROTEIN: [NP_149091]
R-score = 0.011564; GO-score = 0.003338
82950000 bp Chromosome 10 92950000 bp
   
        
1 aa NP_570948 859 aa

Similarity found to protein:
[170677|NP_570948] | Mus musculus | photoreceptor cadherin | length=859 aa
GO annotation:
0.000012 receptor activity (function)
0.000014 calcium ion binding (function)
0.000016 extracellular space (component)
0.000024 integral to plasma membrane (component)
0.003338 homophilic cell adhesion (process)
0.000026 membrane (component)
0.000019 integral to membrane (component)
0.000000 photoreceptor maintenance (process)
0.000000 cellular physiological process (process)
BLASTX hits:
E-value 1e-43 prot=681..858 DNA=85963816..85964352 fr=859 per=136/179 [EST]
E-value 2e-32 prot=595..681 DNA=85962825..85963085 fr=859 per=72/87 [EST]
E-value 3e-30 prot=520..597 DNA=85961917..85962150 fr=859 per=65/78 [EST]
E-value 8e-28 prot=322..390 DNA=85957908..85958114 fr=859 per=63/69 [EST]
E-value 3e-19 prot=51..99 DNA=85946241..85946387 fr=859 per=48/49 [EST]
E-value 5e-19 prot=441..496 DNA=85960735..85960902 fr=859 per=49/56 [EST]
E-value 1e-17 prot=211..262 DNA=85952705..85952860 fr=859 per=43/52 [EST]
E-value 6e-17 prot=391..442 DNA=85958466..85958621 fr=859 per=48/52 [EST]
CANDIDATE 2
DNA (Note) PROTEIN: [NP_004320]
R-score = 0.017605; GO-score = 0.002516
82950000 bp Chromosome 10 92950000 bp
   
     
1 aa NP_523481 563 aa

Similarity found to protein:
[|NP_523481] | | | length=563 aa
GO annotation:
0.000000 compound eye morphogenesis (sensu Endopterygota) (process)
0.000000 morphogenesis of a branching structure (process)
0.000000 protein kinase activity (function)
0.000000 transforming growth factor beta receptor activity, type I (function)
0.000000 ATP binding (function)
0.000037 plasma membrane (component)
0.000000 protein amino acid phosphorylation (process)
0.000000 transforming growth factor beta receptor signaling pathway (process)
0.000000 transforming growth factor beta receptor complex assembly (process)
0.000000 dorsal closure (process)
0.000000 tracheal system development (sensu Insecta) (process)
0.000000 anterior/posterior pattern formation, imaginal disc (process)
0.000000 wing morphogenesis (process)
0.002516 heart development (process)
0.000000 BMP signaling pathway (process)
0.000000 ovarian follicle cell development (sensu Insecta) (process)
0.000000 germ-line stem cell maintenance (process)
0.000000 germ-line stem cell division (process)
0.000000 negative regulation of salivary gland determination (process)
0.000000 positive regulation of synaptic growth at neuromuscular junction (process)
0.000000 branched duct epithelial cell fate determination (sensu Insecta) (process)
0.000000 transforming growth factor beta binding (function)
BLASTX hits:
E-value 1e-32 prot=307..408 DNA=88668900..88669205 fr=563 per=69/102 [EST]
E-value 2e-25 prot=246..310 DNA=88666872..88667066 fr=563 per=58/65 [EST]
E-value 1e-13 prot=477..550 DNA=88673122..88673430 fr=563 per=43/103 [EST]
CANDIDATE 3
DNA (Note) PROTEIN: [NP_000863] [NP_062873] [NP_062874]
R-score = 0.017663; GO-score = 0.002516
82950000 bp Chromosome 10 92950000 bp
   
   
1 aa NP_032337 504 aa

Similarity found to protein:
[15559|NP_032337] | Mus musculus | 5-hydroxytryptamine (serotonin) receptor 2B | length=504 aa
GO annotation:
0.000000 rhodopsin-like receptor activity (function)
0.000039 signal transducer activity (function)
0.000012 receptor activity (function)
0.000036 G-protein coupled receptor activity (function)
0.000000 serotonin receptor activity (function)
0.000015 signal transduction (process)
0.000020 G-protein coupled receptor protein signaling pathway (process)
0.000000 serotonin receptor, phospholipase C activating pathway (process)
0.002516 heart development (process)
0.000019 integral to membrane (component)
BLASTX hits:
E-value 5e-14 prot=143..399 DNA=92499364..92498660 fr=504 per=67/264 [EST]
CANDIDATE 4
DNA (Note) PROTEIN: [NP_009009]
R-score = 0.020942; GO-score = 0.002516
82950000 bp Chromosome 10 92950000 bp
   
     
1 aa NP_006448 596 aa

Similarity found to protein:
[10611|NP_006448] | Homo sapiens | LIM protein (similar to rat protein kinase C-binding enigma) | length=596 aa
GO annotation:
0.000000 actin binding (function)
0.000000 protein kinase C binding (function)
0.000000 protein binding (function)
0.000022 membrane fraction (component)
0.000014 cytosol (component)
0.002516 heart development (process)
0.000020 zinc ion binding (function)
0.000000 receptor signaling complex scaffold activity (function)
0.000000 actinin binding (function)
0.000000 metal ion binding (function)
BLASTX hits:
E-value 1e-17 prot=428..488 DNA=88467700..88467882 fr=596 per=39/61 [EST]
E-value 2e-12 prot=528..569 DNA=88475871..88475996 fr=596 per=30/42 [EST]
CANDIDATE 5
DNA (Note) PROTEIN: [NP_000305]

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.021863; GO-score = 0.002516
82950000 bp Chromosome 10 92950000 bp
   
  
1 aa NP_032986 403 aa

Similarity found to protein:
[19211|NP_032986] | Mus musculus | phosphatase and tensin homolog | length=403 aa
GO annotation:

0.000033 phosphoprotein phosphatase activity (function)
0.000037 protein tyrosine phosphatase activity (function)
0.000025 protein amino acid dephosphorylation (process)
0.000647 induction of apoptosis (process)
0.000000 cell cycle (process)
0.000032 central nervous system development (process)
0.002516 heart development (process)
0.000000 protein tyrosine/serine/threonine phosphatase activity (function)
0.000000 phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (function)
0.000188 cell migration (process)
0.000000 hydrolase activity (function)
0.000000 negative regulation of progression through cell cycle (process)
BLASTX hits:
E-value 2e-40 prot=85..164 DNA=89682750..89682989 fr=403 per=80/80 [EST] [P]
E-value 8e-28 prot=268..343 DNA=89710632..89710859 fr=403 per=76/76 [EST] [P]
E-value 2e-24 prot=212..267 DNA=89707590..89707757 fr=403 per=55/56 [EST] [P]
E-value 1e-19 prot=343..403 DNA=89715025..89715207 fr=403 per=60/61 [EST] [P]
E-value 2e-18 prot=167..212 DNA=89701862..89701999 fr=403 per=45/46 [EST] [P]
CANDIDATE 6
DNA (Note)
R-score = 0.024912; GO-score = 0.002042
82950000 bp Chromosome 10 92950000 bp
   
       
1 aa NP_002273 493 aa

Similarity found to protein:
[3889|NP_002273] | Homo sapiens | keratin, hair, basic, 3 | length=493 aa
GO annotation:
0.002042 structural molecule activity (function)
0.000074 intermediate filament (component)
0.001310 epidermis development (process)
BLASTX hits:
E-value 7e-29 prot=18..147 DNA=90477306..90477647 fr=493 per=54/132 [EST]
E-value 7e-29 prot=216..280 DNA=90477841..90478011 fr=493 per=31/67 [EST]
E-value 7e-29 prot=282..350 DNA=90478014..90478220 fr=493 per=23/69 [EST]
E-value 7e-29 prot=184..218 DNA=90477746..90477850 fr=493 per=12/35 [EST]
E-value 7e-29 prot=382..413 DNA=90478288..90478383 fr=493 per=15/32 [EST]
CANDIDATE 7
DNA (Note)
R-score = 0.024970; GO-score = 0.002042
82950000 bp Chromosome 10 92950000 bp
   
     
1 aa NP_000414 645 aa

Similarity found to protein:
[3849|NP_000414] | Homo sapiens | keratin 2a | length=645 aa
GO annotation:
0.002042 structural molecule activity (function)
0.000063 structural constituent of cytoskeleton (function)
0.000074 intermediate filament (component)
0.001310 epidermis development (process)
BLASTX hits:
E-value 2e-40 prot=134..221 DNA=90477378..90477650 fr=645 per=52/92 [EST]
E-value 2e-40 prot=230..293 DNA=90477674..90477850 fr=645 per=25/64 [EST]
E-value 2e-40 prot=357..422 DNA=90478014..90478211 fr=645 per=28/67 [EST]
E-value 2e-40 prot=291..355 DNA=90477841..90478011 fr=645 per=24/67 [EST]
E-value 2e-40 prot=457..534 DNA=90478288..90478485 fr=645 per=29/78 [EST]
E-value 2e-40 prot=432..444 DNA=90478214..90478252 fr=645 per=9/13 [EST]
CANDIDATE 8
DNA (Note) PROTEIN: [NP_001604]
R-score = 0.025660; GO-score = 0.002042
82950000 bp Chromosome 10 92950000 bp
   
   
1 aa NP_031418 377 aa

Similarity found to protein:
[11475|NP_031418] | Mus musculus | actin, alpha 2, smooth muscle, aorta | length=377 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000000 motor activity (function)
0.002042 structural molecule activity (function)
0.000063 structural constituent of cytoskeleton (function)
0.000000 protein binding (function)
0.000000 ATP binding (function)
0.000000 cytoskeleton (component)
0.000000 actin filament (component)
0.000266 cytoskeleton organization and biogenesis (process)
0.000019 muscle development (process)
BLASTX hits:
E-value 1e-28 prot=205..272 DNA=90689440..90689237 fr=377 per=66/68 [EST]
E-value 2e-27 prot=267..332 DNA=90687990..90687793 fr=377 per=63/66 [EST]
E-value 1e-22 prot=152..207 DNA=90691129..90690962 fr=377 per=55/56 [EST]
E-value 9e-19 prot=330..377 DNA=90685107..90684964 fr=377 per=47/48 [EST]
E-value 9e-18 prot=44..88 DNA=90697124..90696990 fr=377 per=44/45 [EST]
E-value 6e-17 prot=1..48 DNA=90698668..90698519 fr=377 per=45/50 [EST]
E-value 1e-13 prot=87..124 DNA=90693645..90693532 fr=377 per=37/38 [EST]
CANDIDATE 9
DNA (Note)
R-score = 0.026063; GO-score = 0.002042
82950000 bp Chromosome 10 92950000 bp
   
     
1 aa NP_032502 553 aa

Similarity found to protein:
[16687|NP_032502] | Mus musculus | keratin complex 2, basic, gene 6a | length=553 aa
GO annotation:
0.000000 morphogenesis of an epithelium (process)
0.002042 structural molecule activity (function)
0.000063 structural constituent of cytoskeleton (function)
0.000074 intermediate filament (component)
0.000000 keratinization (process)
0.000000 intermediate filament organization (process)
BLASTX hits:
E-value 9e-49 prot=96..190 DNA=90477378..90477653 fr=553 per=53/97 [EST]
E-value 9e-49 prot=197..261 DNA=90477662..90477850 fr=553 per=30/65 [EST]
E-value 9e-49 prot=325..390 DNA=90478014..90478211 fr=553 per=30/67 [EST]
E-value 9e-49 prot=259..323 DNA=90477841..90478011 fr=553 per=27/65 [EST]
E-value 9e-49 prot=425..456 DNA=90478288..90478383 fr=553 per=19/32 [EST]
E-value 9e-49 prot=400..417 DNA=90478214..90478267 fr=553 per=10/18 [EST]
CANDIDATE 10
DNA (Note)
R-score = 0.030723; GO-score = 0.002042
82950000 bp Chromosome 10 92950000 bp
   
         
1 aa NP_006112 644 aa

Similarity found to protein:
[3848|NP_006112] | Homo sapiens | keratin 1 | length=644 aa
GO annotation:
0.000000 complement activation, lectin pathway (process)
0.000012 receptor activity (function)
0.002042 structural molecule activity (function)
0.000063 structural constituent of cytoskeleton (function)
0.000000 protein binding (function)
0.000000 sugar binding (function)
0.000000 cytoskeleton (component)
0.000074 intermediate filament (component)
0.000000 response to oxidative stress (process)
0.001310 epidermis development (process)
0.000026 membrane (component)
0.000000 fibrinolysis (process)
0.000000 regulation of angiogenesis (process)
BLASTX hits:
E-value 2e-42 prot=126..217 DNA=90477378..90477650 fr=644 per=48/92 [EST]
E-value 2e-42 prot=232..289 DNA=90477680..90477850 fr=644 per=26/58 [EST]
E-value 2e-42 prot=353..418 DNA=90478014..90478211 fr=644 per=28/67 [EST]
E-value 2e-42 prot=287..351 DNA=90477841..90478011 fr=644 per=25/65 [EST]
E-value 2e-42 prot=453..483 DNA=90478288..90478380 fr=644 per=16/31 [EST]
E-value 2e-42 prot=428..440 DNA=90478214..90478252 fr=644 per=9/13 [EST]