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 - Gilbert Disease

Debug Stats

### Total Build Time: 25 ms 29.864 KB
CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 328 bytes
CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 290 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=5 ms Completed: 5 ms rowSize= 566 bytes
CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 2.858 KB
CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 10.886 KB
CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 13.596 KB
CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.149 KB
CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
Reload Stats

Disease (1)

Gilbert Disease C0017551

Definition (1)

An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.

Semantic Types (1)

Disease or Syndrome (T047)

Parents (1)

C0020435

Ancestral Roots

Root	Root Plus One	Depth	Parent
Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612	Genetic Diseases, Inborn C0950123	5	Hyperbilirubinemia, Hereditary C0020435
Nutritional and Metabolic Diseases C0028715	Metabolic Diseases C0025517	5	Hyperbilirubinemia, Hereditary C0020435

Relationships (24)

Relation Types:

diso_to_anat : 2

diso_to_chem : 4

diso_to_diso : 14

diso_to_phen : 2

diso_to_phys : 2

Relationships:

none : 12

associated_with : 2

clinically_similar : 1

manifestation_of : 8

used_for : 1

Relation Type	Co-Occuring Concept Count	Relationship	Concept
DISO_to_PHEN	54		genetic aspects C0017399
DISO_to_PHEN	52		genetic aspects C0017399
DISO_to_CHEM	36		Glucuronosyltransferase C0041560
DISO_to_CHEM	34		Glucuronosyltransferase C0041560
DISO_to_DISO	30		Complication Aspects C1171258
DISO_to_ANAT	18		In Blood C0005768
DISO_to_ANAT	14		In Blood C0005768
DISO_to_DISO	12		Hyperbilirubinemia C0020433
DISO_to_CHEM	11		Bilirubin C0005437
DISO_to_DISO	8		Hyperbilirubinemia C0020433
DISO_to_PHYS	8		Genetic Polymorphism C0032529
DISO_to_PHYS	8		Mutation C0026882
DISO_to_CHEM		associated_with	Indirect reacting bilirubin C0301719
DISO_to_DISO		manifestation_of	Caused by mutations in the uridine diphosphate glycosyltransferase 1 gene (UGT1A1, 191740.0010) C2675157
DISO_to_DISO		manifestation_of	Common (up to 7% of the population) C1840442
DISO_to_DISO		manifestation_of	Decreased bilirubin concentration with phenobarbital administration C1847499
DISO_to_DISO		manifestation_of	Decreased hepatic UDP-glucuronyl-transferase activity C1840439
DISO_to_DISO		manifestation_of	Does not lead to hepatic failure C2675158
DISO_to_DISO		clinically_similar	Gilbert Disease C0017551
DISO_to_DISO		used_for	Hereditary Hyperbilirubinemia C0020435
DISO_to_DISO		manifestation_of	Hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration) C3276935
DISO_to_DISO		manifestation_of	Liver function tests normal C0438235
DISO_to_DISO		associated_with	Neonatal jaundice with Gilbert syndrome C0410976
DISO_to_DISO		manifestation_of	Rarely produces clinical jaundice C1840443

Genes (3)

Species:

human : 3

Species	Gene	GeneId	Gene Name	Evidence
Human	UGT1A1	54658	UDP glucuronosyltransferase 1 family, polypeptide A1	GAD, Score=1000, Pubmed Id: 12078936, UMLKSK CUI: C0017551 Title:Predicting the risk of sporadic elevated bilirubin levels and diagnosing Gilbert's syndrome by genotyping UGT1A128 promoter polymorphism.\|Association:Not Found\|Conclusion:The genotyping of UGT1A1 promoter polymorphism can help to improve safety and the reliable assessment of adverse events in clinical studies. Our data additionally support the demand to refine the bilirubin reference values. GAD, Score=1000, Pubmed Id: 11764096, UMLKSK CUI: C0017551 Title:Gilbert syndrome associated with beta-thalassemia.\|Association:Y\|Conclusion:These results confirm that the (TA)7/(TA)7 GS genotype is one of the factors accounting for the hyperbilirubinemia observed in beta-thalassemia major, intermedia, and heterozygous individuals. GAD, Score=1000, Pubmed Id: 11141380, UMLKSK CUI: C0017551 Title:[Distribution of the A(TA)7TAA genotype associated with Gilbert syndrome in the Spanish population]\|Association:Not Found\|Conclusion:The frequency of the abnormal allele, similar in different caucasian populations, raise the question whether it would be worthwhile and cost-effective to introduce molecular screening for Gilbert's syndrome in the study of mild, chronic unconjugated hyperbilirubinemia, in the absence of haemolysis or evidence of hepatic injury. GENERIF, Score=1000, Pubmed Id: 18491077, UMLKSK CUI: C0017551 Role in Gilbert's syndrome (Review) GENERIF, Score=1000, Pubmed Id: 18343383, UMLKSK CUI: C0017551 less cardiovascular risk in individuals with Gilbert syndrome (GS) as well as those with the UGT1A128 allele OMIM, Score=1000, UMLKSK CUI: C0017551 Congenital nonhemolytic jaundice GENERIF, Score=1000, Pubmed Id: 12480553, UMLKSK CUI: C0017551 Most patients with Gilbert's syndrome may have abnormalities in glucuronidation of aspirin or coumarin- and dopamine-derivatives, due to this combination of UGT1A128 and UGT1A62 genotypes GENERIF, Score=1000, Pubmed Id: 17850628, UMLKSK CUI: C0017551 UGT1A1 and UGT1A7 variant alleles are associated with increased risk of Gilbert's syndrome in Taiwanese adults GAD, Score=1000, Pubmed Id: 12480553, UMLKSK CUI: C0017551 Title:Combined polymorphisms in UDP-glucuronosyltransferases 1A1 and 1A6:implications for patients with Gilbert's syndrome.\|Association:Y\|Conclusion:Most patients with Gilbert's syndrome, in addition to their reduced B-UGT enzyme activity, may have abnormalities in the glucuronidation of aspirin or coumarin- and dopamine-derivatives, due to this combination of UGT1A128 and UGT1A62 genotypes. GENERIF, Score=1000, Pubmed Id: 14647407, UMLKSK CUI: C0017551 The TA repeat polymorphism in UGT1A1, which predisposes some individuals to Gilbert's syndrome, predicts the susceptibility to tranilast-induced hyperbilirubinemia GAD, Score=1000, Pubmed Id: 15049432, UMLKSK CUI: C0017551 Title:Single-step identification of all length polymorphisms in the UGT1A1 gene promoter.\|Association:Not Found\|Conclusion:Our method enables reliable genetic single-step screening for all known length polymorphisms in the UGT1A1 gene promoter that cause Gilbert's syndrome. This facilitates pharmacogenetic-guided dosing of drugs with known toxicity metabolized by UGT1A1. GAD, Score=1000, Pubmed Id: 12732365, UMLKSK CUI: C0017551 Title:Frequent co-occurrence of the TATA box mutation associated with Gilbert's syndrome (UGT1A128) with other polymorphisms of the UDP-glucuronosyltransferase-1 locus (UGT1A62 and UGT1A7*3) in Caucasians and Egyptians.\|Association:Not Found\|Conclusion:Frequent haplotypes containing several UGT1 allelic variants should be taken into account in studies on the association between diseases, abnormal drug reactions, and UGT1 family polymorphisms.
Human	UGT1A6	54578	UDP glucuronosyltransferase 1 family, polypeptide A6	GAD, Score=1000, Pubmed Id: 12480553, UMLKSK CUI: C0017551 Title:Combined polymorphisms in UDP-glucuronosyltransferases 1A1 and 1A6:implications for patients with Gilbert's syndrome.\|Association:Y\|Conclusion:Most patients with Gilbert's syndrome, in addition to their reduced B-UGT enzyme activity, may have abnormalities in the glucuronidation of aspirin or coumarin- and dopamine-derivatives, due to this combination of UGT1A128 and UGT1A62 genotypes.
Human	UGT1A7	54577	UDP glucuronosyltransferase 1 family, polypeptide A7	GENERIF, Score=1000, Pubmed Id: 17850628, UMLKSK CUI: C0017551 UGT1A1 and UGT1A7 variant alleles are associated with increased risk of Gilbert's syndrome in Taiwanese adults GENERIF, Score=1000, Pubmed Id: 18349289, UMLKSK CUI: C0017551 Irenotecan toxicity is more likely in patients with Gilbert's syndrome carrying the UGT1A1*28 allele combined with reduced function UGT1A7 N129K/R131K and UGT1A7-57T/G SNP

XRefs (1)

XRef Types:

cui : 1

ToppGene Datasets:

none : 1

ToppGene Datasets	XRef Type	XRef Id	XRef	Values	Source	Top % Rank
	CUI	C0017551	Gilbert Disease	0		self

Gataca is supported by...