GATACA

Credits

Hide Credits

Data

Data - ToppGene Sources

The vast majority of all data in Gataca is from ToppGene so its credits cover data sources that are used within Gataca. The primary reason for utilizing the same sources between these applications is to help ensure consistancy between them. ToppGene, and Gataca, uses data from over 20 sources.

For ToppGene Credits, please visit:

ToppGene Links (Credits)

Data - GUDMAP

GUDMAP

The GUDMAP data within Gataca is only availble within the GUDMAP interface:

Gataca's GUDMAP

Data - UMLSKS

UMLSKS website

Software

Software - Solr

Solr website

Software - PrototypeJS

Prototype JS website

Prototype JavaScript framework, version 1.7
(c) 2005-2010 Sam Stephenson
 
Prototype is freely distributable under the terms of an MIT-style license.
For details, see the Prototype web site: http://www.prototypejs.org/

Software - script.aculo.us

Script.aculo.us website

NOTE: Only the effects.js and dragdrop.js modules from Script.aculo.us are being used.

// script.aculo.us scriptaculous.js v1.9.0, Thu Dec 23 16:54:48 -0500 2010

// Copyright (c) 2005-2010 Thomas Fuchs (http://script.aculo.us, http://mir.aculo.us)
//
// Permission is hereby granted, free of charge, to any person obtaining
// a copy of this software and associated documentation files (the
// "Software"), to deal in the Software without restriction, including
// without limitation the rights to use, copy, modify, merge, publish,
// distribute, sublicense, and/or sell copies of the Software, and to
// permit persons to whom the Software is furnished to do so, subject to
// the following conditions:
//
// The above copyright notice and this permission notice shall be
// included in all copies or substantial portions of the Software.
//
// THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND,
// EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF
// MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND
// NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT HOLDERS BE
// LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, WHETHER IN AN ACTION
// OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, OUT OF OR IN CONNECTION
// WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN THE SOFTWARE.
//
// For details, see the script.aculo.us web site: http://script.aculo.us/

Software - canvasXpress

canvasXpress website

CanvasXpress is a javascript library based on the <canvas> tag implemented in HTML5.

This package is currently being used for the Venn Diagram within SetBuilder. Plans are to utilize it in other areas in the generation of other graphs.

Software - Oracle Enterprise Edition

Oracle website

The data within Gataca is being stored in an Oracle 11g database.

Software - Modernizr

modernizr

modernizr provides simple interfacing to check to see what features are available within the client's browser. This is predomantly used to test for HTML 5 features such as canvas or local storage support.

Software - JQTouch

JQTouch website

JQTouch is being used for the mobile edition of Gataca.

Software - jQuery

JQuery website

jQuery is used within JQTouch only.

Software - tablesort

tablesort website

Copyright (c) 2006 Andrew Tetlaw 
http://tetlaw.id.au/view/blog/table-sorting-with-prototype/

Permission is hereby granted, free of charge, to any person
obtaining a copy of this software and associated documentation
files (the "Software"), to deal in the Software without
restriction, including without limitation the rights to use, copy,
modify, merge, publish, distribute, sublicense, and/or sell copies
of the Software, and to permit persons to whom the Software is
furnished to do so, subject to the following conditions:

The above copyright notice and this permission notice shall be
included in all copies or substantial portions of the Software.

Software - Firebug Light

Firebug Light website

firebugx.js - There is no disclaimer in the original file, but it is an open source project. The main website is http://www.getfirebug.com It is an open source project hosted by Google code.

Link-It Detail - Disease - Galactosemias

Debug Stats

### Total Build Time: 29 ms 34.079 KB
CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 324 bytes
CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 457 bytes
Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes
Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1.001 KB
CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 6.806 KB
CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 13.061 KB
CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 11.083 KB
CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.147 KB
CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
Reload Stats

Disease (1)

Galactosemias C0016952

Definition (1)

An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.

Semantic Types (1)

Disease or Syndrome (T047)

Parents (2)

C0752109

C0007001

Ancestral Roots

Relationships (29)

Relation Types:

diso_to_anat : 3

diso_to_chem : 7

diso_to_diso : 15

diso_to_phen : 2

diso_to_phys : 2

Relationships:

none : 15

associated_with : 1

classifies : 2

clinically_similar : 1

mapped_to : 10

Page Size

Current 25

100

250

ALL

Page 1 of 2

Prior Page

Current 1

Relation Type	Co-Occuring Concept Count	Relationship	Concept
DISO_to_PHEN	49		genetic aspects C0017399
DISO_to_PHEN	45		genetic aspects C0017399
DISO_to_DISO	35		Complication Aspects C1171258
DISO_to_ANAT	25		In Blood C0005768
DISO_to_CHEM	22		UTP-Hexose-1-Phosphate Uridylyltransferase C0016953
DISO_to_DISO	19		Complication Aspects C1171258
DISO_to_CHEM	17		Galactose C0016945
DISO_to_CHEM	17		UTP-Hexose-1-Phosphate Uridylyltransferase C0016953
DISO_to_CHEM	15		Galactose C0016945
DISO_to_ANAT	12		In Blood C0005768
DISO_to_PHYS	11		Mutation C0026882
DISO_to_CHEM	8		Galactosephosphates C0016954
DISO_to_PHYS	7		Mutation C0026882
DISO_to_ANAT	6		Lens, Crystalline C0023317
DISO_to_CHEM	6		UDPglucose-Hexose-1-Phosphate Uridylyltransferase C0019492
DISO_to_CHEM		associated_with	Galactose C0016945
DISO_to_DISO		mapped_to	Classical galactosaemia, heterozygous type C0268154
DISO_to_DISO		mapped_to	Classical galactosaemia, homozygous Duarte-type C0268152
DISO_to_DISO		mapped_to	Classical galactosaemia, homozygous Negro-type C0268153
DISO_to_DISO		mapped_to	Classical galactosemia C0268151
DISO_to_DISO		mapped_to	Deficiency of galactokinase C0268155
DISO_to_DISO		mapped_to	Disorder of galactose metabolism C0342745
DISO_to_DISO		mapped_to	Galactosemias C0016952
DISO_to_DISO		mapped_to	Galactosuria C0268157
DISO_to_DISO		mapped_to	Generalised uridine diphosphate galactose-4-epimerase deficiency C0574089

Genes (5)

Species:

human : 5

Species	Gene	GeneId	Gene Name	Evidence
Human	SLC25A13	10165	solute carrier family 25 (aspartate/glutamate carrier), member 13	OMIM, Score=1000, UMLKSK CUI: C0016952 Elevated plasma galactose (galactosemia)
Human	UGT8	7368	UDP glycosyltransferase 8	GENERIF, Score=1000, Pubmed Id: 16125333, UMLKSK CUI: C0016952 We postulate that molecular link between defective GALT enzyme, which result in classic galactosemia and the cerebroside galactosyl transferase, responsible for galactosylation of cerebrosides, is dependent on concentrations of UDP-galactose
Human	GALT	2592	galactose-1-phosphate uridylyltransferase	GAD, Score=1000, Pubmed Id: 11919338, UMLKSK CUI: C0016952 Title:Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.\|Association:Not Found\|Conclusion:We conclude that a rapid and automatable confirmation test for unknown GALT mutations, e.g. on a high-density oligonucleotide array basis, has the potential to lower the recall rate of galactosemia screening in our population by about five-fold from 0.25 to 0.046%. Further research, however, will be required before the development of such a test can be advocated. GAD, Score=1000, Pubmed Id: 14614623, UMLKSK CUI: C0016952 Title:Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issueof galactosaemia.\|Association:Not Found\|Conclusion:Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as speech disorders, mental retardation, ataxia and in females hypergonadotropic hypogonadism. GAD, Score=1000, Pubmed Id: 7887417, UMLKSK CUI: C0016952 Title:\|Association:Y\|Conclusion:Not Found GAD, Score=833, Pubmed Id: 8198125, UMLKSK CUI: C0016952 Title:A common mutation associated with the Duarte galactosemia allele.\|Association:Y\|Conclusion:We conclude that the N314D mutation is a common allele that probably causes the Duarte GALT biochemical phenotype and occurs in a predominantly Caucasian, nongalactosemic population, with a prevalence of 5.9%. GAD, Score=1000, Pubmed Id: 11511927, UMLKSK CUI: C0016952 Title:Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.\|Association:Not Found\|Conclusion:Based upon the gene frequency of the Q188R mutation in the White population, the birth incidence of classic galactosemia is estimated at one patient per 47,000 in the White population. This prevalence would be increased by inbreeding. It agrees well with the results from newborn screening programs and is only minimally higher than that reported in most studies, suggesting that most, if not all, infants with the galactosemia genotype are born and survive sufficiently long to be screened. GENERIF, Score=1000, Pubmed Id: 15506833, UMLKSK CUI: C0016952 children and adolescents with galactosemia function generally within the low average IQ range and have less well-developed executive functions
Human	GALK1	2584	galactokinase 1	OMIM, Score=1000, UMLKSK CUI: C0016952 Distinct disorder from galactosemia ({230400}) OMIM, Score=1000, UMLKSK CUI: C0016952 Galactosemia
Human	GALE	2582	UDP-galactose-4-epimerase	OMIM, Score=1000, UMLKSK CUI: C0016952 Galactosemia GENERIF, Score=827, Pubmed Id: 16302980, UMLKSK CUI: C0016952 Data suggest that reduced catalytic efficiency and increased proteolytic susceptibility of UDP-galactose 4-epimerase are causative factors in type III galactosemia

XRefs (1)

XRef Types:

cui : 1

ToppGene Datasets:

none : 1

ToppGene Datasets	XRef Type	XRef Id	XRef	Values	Source	Top % Rank
	CUI	C0016952	Galactosemias	0		self

Gataca is supported by...