Documentation: Disease Data
These data are the results of a systematic curation of the literature on human
mutations in NRC/MASC genes, focusing on reports of mutations that were associated
with human diseases. The project was first described in 16150739,
'Grant SG, Marshall MC, Page KL, Cumiskey MA, Armstrong JD, "Synapse proteomics
of multiprotein complexes: en route from genes to nervous system diseases",
Hum Mol Genet, 2005, Sep 8'.
Contents
Background
Mutations found?
PMID
Mutation Types
Disease
(Nervous effect)
Genetic Association?
The NRC/MASC is a set of 185 proteins which are known to be closely linked
with the NMDA receptor in neuronal synapses. They are believed to be essential
for many forms of learning and other cognitive activities. Many of the details
of how they function remain obscure, and this curation project was undertaken
in order to systematically analyse the literature to date.
Our purpose was to catalogue the mutations so far identified in the NRC/MASC
genes in humans. Furthermore, we curated data regarding associations between
these mutations and human diseases, including whether or not the evidence presented
supported a link between the mutation and disease.
| Figure 1: Sample output
from text-mining software; relevant search terms
highlighted |
Of the 185 NRC/MASC genes, we identified reports of mutations or polymorphisms
in 47 genes associated with 183 disorders, of which 54 were nervous system disorders.
Each line of the displayed table reflects one published paper.
Mutations found?
Has a paper reported a mutation in this gene? Y/N
PMID
PubMed ID for the source paper. Acts as a link to the paper's abstract on PubMed.
Mutation Types
Mutation type(s) reported in the paper as having been identified or generated
in the gene.
This information was copied essentially verbatim from the paper's text, with
no attempt to drill down into the nature of the mutation. For this reason, there
may be some overlap, e.g. certain null or missense mutations may be SNPs. For
further information, the reader is directed to the full text of the paper (available
through the PubMed
link).
Key to Mutation Types
| D |
Deletion |
| DNP |
Dinucleotide Polymorphism |
| Du |
Duplication |
| FS |
Frameshift Mutation |
| I |
Insertion |
| I/D |
Insertion/Deletion |
| Mi |
Missense |
| MD/I |
Microdeletion/Insertion |
| MI/D |
Microinsertion/Deletion |
| MSP |
Microsatellite Polymorphism |
| MSRP |
Microsatellite Repeat Polymorphism |
| MSV |
Microsatellite Variation |
| N |
No Mutation Found |
| No |
Nonsense |
| Nu |
Null |
| P |
Polymorphism |
| RP |
Repeat Polymorphism |
| SND |
Single Nucleotide Deletion |
| SNI |
Single Nucleotide Insertion |
| SNP |
Single Nucleotide Polymorphism |
| SpS |
Splice Site Mutation |
| T |
Translocation |
| Ta |
TaqI Polymorphism |
| TF |
Translocation Fusion |
| TriNS |
Trinucleotide Substitution |
Disease
Name of disease reported in the paper as being potentially associated with the
mutation(s) in the gene.
(Nervous effect)
Is this a nervous system disorder? Y/N
Criteria for disease classification:
- The nervous system was defined as being both the central and peripheral
nervous systems. Hence, a disease confined to a distal nerve ending was still
classed as a nervous system disease;
- Many diseases have a range of major symptoms, observed in different regions
of the body. If only one of these cardinal symptoms was a nervous system effect,
the disease was classed as being a nervous system disease;
- Certain forms of cancer may invade the nervous system, but are not defined
as doing so. These were classified as non-nervous system diseases;
- Any disease producing mental retardation or other psychological effect was
classed as being a nervous system disease.
Genetic association?
According to the evidence presented in the paper, is the disease actually associated
with the mutation? Y/N
This information was taken directly from the paper, with no attempt on the curators'
part to be critical of the evidence with regard to methodology, sample size
and the like. Researchers wishing to critically evaluate the information in
this way are directed to the paper itself, which is accessible through the PubMed
link.
