Analysis of amelogenesis imperfecta 2, hypocalcification (autosomal dominant)
Analysis of amelogenesis imperfecta 2, hypocalcification (autosomal dominant) G2D Home
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REASONS FOR ASSOCIATION OVERVIEW OF CANDIDATES CANDIDATES

CHROMOSOMAL REGION
Disease mapped: amelogenesis imperfecta 2, hypocalcification (autosomal dominant)
Chromosome: 4
Genomic position start-stop: 50900000-88400000
length: 37500001
Band: 4q11-q21
 LINKS

EntrezGene: [200]

MEDLINE:

OMIM: [104500] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY
A set of 5 papers related to this disease was derived from MEDLINE using the query:
amelogenesis [tw] AND imperfecta [tw] AND hypocalcification [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).

Amelogenesis Imperfecta [4]
Syndrome [3]
Dental Enamel Hypoplasia [2]
Nephrocalcinosis [2]
Tooth, Unerupted [2]
Tooth Abnormalities [1]
Osteosclerosis [1]
Gingival Hyperplasia [1]
Tooth Attrition [1]
Abnormalities, Multiple [1]
We show here only the 10 most frequent. You can also see the complete list of 15 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.

0.000559 extracellular matrix structural constituent (function)
0.000365 ossification (process)
0.000348 extracellular matrix (sensu Metazoa) (component)

Each name is linked to the corresponding term description by GO. The number indicates the strength of association to amelogenesis imperfecta 2, hypocalcification (autosomal dominant). 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]

CANDIDATES
CANDIDATE 1
DNA (Note) PROTEIN: [NP_057603]
R-score = 0.005523; GO-score = 0.000365
50900000 bp Chromosome 4 88400000 bp
   
  
1 aa NP_033794 407 aa

Similarity found to protein:
[11698|NP_033794] | Mus musculus | ameloblastin | length=407 aa
GO annotation:
0.000365 ossification (process)
0.000348 extracellular matrix (sensu Metazoa) (component)
0.000000 extracellular space (component)
0.000000 extracellular matrix structural constituent conferring compression resistance (function)
0.000000 extracellular matrix organization and biogenesis (process)
0.000000 structural constituent of tooth enamel (function)
0.000000 odontogenesis (sensu Vertebrata) (process)
BLASTX hits:
E-value 9e-42 prot=232..407 DNA=71652663..71653205 fr=407 per=101/181 [EST]
CANDIDATE 2
DNA (Note) PROTEIN: [NP_001192] (Itself)
R-score = 0.007422; GO-score = 0.000365
50900000 bp Chromosome 4 88400000 bp
   
 
1 aa NP_001192 472 aa

Similarity found to protein:
[651|NP_001192] | Homo sapiens | bone morphogenetic protein 3 (osteogenic) precursor | length=472 aa
GO annotation:
0.000365 ossification (process)
0.000000 cytokine activity (function)
0.000000 extracellular space (component)
0.000000 cell-cell signaling (process)
0.000000 growth factor activity (function)
0.000000 cell differentiation (process)
0.000000 cartilage development (process)
BLASTX hits:
E-value 1e-176 prot=97..409 DNA=82324044..82324982 fr=472 per=305/313 [EST]
E-value 5e-54 prot=1..105 DNA=82309619..82309933 fr=472 per=105/105 [EST]
E-value 8e-28 prot=410..472 DNA=82331679..82331867 fr=472 per=63/63 [EST]
CANDIDATE 3
DNA (Note) PROTEIN: [NP_055058]
R-score = 0.013636; GO-score = 0.000348
50900000 bp Chromosome 4 88400000 bp
   
       
1 aa NP_067610 566 aa

Similarity found to protein:
[9509|NP_067610] | Homo sapiens | a disintegrin and metalloprotease with thrombospondin motifs-2 isoform 2 | length=566 aa
GO annotation:
0.000348 extracellular matrix (sensu Metazoa) (component)
0.000000 proteolysis (process)
0.000000 collagenase activity (function)
0.000000 procollagen N-endopeptidase activity (function)
0.000000 collagen catabolism (process)
0.000000 metal ion binding (function)
BLASTX hits:
E-value 1e-16 prot=414..467 DNA=73550227..73550066 fr=566 per=40/54 [EST]
E-value 5e-16 prot=326..380 DNA=73551623..73551459 fr=566 per=42/55 [EST]
E-value 1e-15 prot=45..182 DNA=73779644..73779219 fr=566 per=57/158 [EST]
E-value 4e-15 prot=506..543 DNA=73546724..73546611 fr=566 per=36/38 [EST]
E-value 5e-14 prot=464..505 DNA=73549450..73549325 fr=566 per=34/42 [EST]
E-value 5e-13 prot=378..413 DNA=73550717..73550610 fr=566 per=36/36 [EST]
E-value 9e-13 prot=244..298 DNA=73570405..73570244 fr=566 per=40/55 [EST]
CANDIDATE 4
DNA (Note) PROTEIN: [NP_006656]
R-score = 0.015534; GO-score = 0.000348
50900000 bp Chromosome 4 88400000 bp
   
        
1 aa NP_690016 535 aa

Similarity found to protein:
[15442|NP_690016] | Mus musculus | heparanase | length=535 aa
GO annotation:
0.000000 magnesium ion binding (function)
0.000000 calcium ion binding (function)
0.000348 extracellular matrix (sensu Metazoa) (component)
0.000000 lysosome (component)
0.000000 membrane (component)
0.000000 hydrolase activity (function)
0.000000 heparanase activity (function)
BLASTX hits:
E-value 8e-22 prot=160..216 DNA=84591618..84591448 fr=535 per=52/57 [EST]
E-value 3e-15 prot=216..272 DNA=84589227..84589057 fr=535 per=40/57 [EST]
E-value 1e-14 prot=69..115 DNA=84600696..84600556 fr=535 per=41/47 [EST]
E-value 3e-14 prot=480..535 DNA=84573847..84573680 fr=535 per=43/56 [EST]
E-value 3e-12 prot=357..394 DNA=84584649..84584536 fr=535 per=36/38 [EST]
E-value 3e-11 prot=433..483 DNA=84579444..84579292 fr=535 per=34/51 [EST]
CANDIDATE 5
DNA (Note)
R-score = 0.018986; GO-score = 0.000348
50900000 bp Chromosome 4 88400000 bp
   
   
1 aa NP_037212 2316 aa

Similarity found to protein:
[25613|NP_037212] | Rattus norvegicus | protein tyrosine phosphatase, receptor-type, Z polypeptide 1 | length=2316 aa
GO annotation:
0.000000 carbonate dehydratase activity (function)
0.000000 phosphoprotein phosphatase activity (function)
0.000000 protein tyrosine phosphatase activity (function)
0.000000 prenylated protein tyrosine phosphatase activity (function)
0.000000 receptor activity (function)
0.000000 transmembrane receptor protein tyrosine phosphatase activity (function)
0.000000 protein binding (function)
0.000000 ATP binding (function)
0.000348 extracellular matrix (sensu Metazoa) (component)
0.000000 extracellular space (component)
0.000000 plasma membrane (component)
0.000000 integral to plasma membrane (component)
0.000000 protein amino acid dephosphorylation (process)
0.000000 one-carbon compound metabolism (process)
0.000000 transmembrane receptor protein tyrosine phosphatase signaling pathway (process)
0.000000 axonogenesis (process)
0.000000 central nervous system development (process)
0.000000 zinc ion binding (function)
0.000000 protein tyrosine/threonine phosphatase activity (function)
0.000000 integral to membrane (component)
0.000000 hydrolase activity (function)
BLASTX hits:
E-value 1e-23 prot=1717..1944 DNA=83859492..83858824 fr=2316 per=86/239 [EST]
E-value 1e-23 prot=1955..2011 DNA=83858794..83858600 fr=2316 per=20/67 [EST]