GATACA

Credits

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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 - Gitelman Syndrome

Debug Stats

### Total Build Time: 102 ms 33.252 KB
CONCEPT_NAME gt=17 ms Completed: 17 ms rowSize= 332 bytes
CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 424 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=1 ms Completed: 1 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= 574 bytes
CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 5.497 KB
CONCEPT_RELATIONSHIPS gt=65 ms Completed: 65 ms rowSize= 12.950 KB
CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 12.136 KB
CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.151 KB
CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
Reload Stats

Disease (1)

Gitelman Syndrome C0268450

Definition (1)

An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.

Semantic Types (1)

Disease or Syndrome (T047)

Parents (1)

C0035091

Ancestral Roots

Relationships (29)

Relation Types:

diso_to_anat : 1

diso_to_chem : 3

diso_to_diso : 23

diso_to_phen : 1

diso_to_phys : 1

Relationships:

none : 9

alias_of : 1

manifestation_of : 18

permuted_term_of : 1

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Relation Type	Co-Occuring Concept Count	Relationship	Concept
DISO_to_PHEN	68		genetic aspects C0017399
DISO_to_DISO	39		Complication Aspects C1171258
DISO_to_CHEM	33		DRUG RECEPT C0034799
DISO_to_CHEM	33		Receptors, Drug C0034799
DISO_to_CHEM	33		Symporters C0598849
DISO_to_DISO	28		Bartter Syndrome C0004775
DISO_to_DISO	22		Hypokalemia C0020621
DISO_to_PHYS	16		Mutation C0026882
DISO_to_ANAT	10		In Blood C0005768
DISO_to_DISO		manifestation_of	Caused by mutation in the thiazide-sensitive Na-Cl cotransporter (SLC12A3, 600968.0001) C2749386
DISO_to_DISO		manifestation_of	Generalized muscle weakness C0746674
DISO_to_DISO		permuted_term_of	Gitelman Syndrome C0268450
DISO_to_DISO		manifestation_of	HOMG2 C1835171
DISO_to_DISO		manifestation_of	HYPOMAGNESAEMIA C0151723
DISO_to_DISO		manifestation_of	Hypocalciuria C0020599
DISO_to_DISO		manifestation_of	Hypokalemia C0020621
DISO_to_DISO		manifestation_of	Hypokalemic alkalosis C0085570
DISO_to_DISO		manifestation_of	Increased plasma renin C1846346
DISO_to_DISO		manifestation_of	Increased urine volume C0032617
DISO_to_DISO		manifestation_of	Muscle Cramp C0026821
DISO_to_DISO		manifestation_of	Onset in childhood (later than in antenatal Bartter syndrome 241200) C1849704
DISO_to_DISO		manifestation_of	Paralysis, episodic, after strenuous exercise C2749385
DISO_to_DISO		manifestation_of	Paresthesia C0030554
DISO_to_DISO		manifestation_of	Polydipsia C0085602
DISO_to_DISO		manifestation_of	Polyuria C0032617

Genes (3)

Species:

human : 3

Species	Gene	GeneId	Gene Name	Evidence
Human	SLC12A3	6559	solute carrier family 12 (sodium/chloride transporter), member 3	GENERIF, Score=734, Pubmed Id: 12686679, UMLKSK CUI: C0268450 Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalaemic paralysis GENERIF, Score=717, Pubmed Id: 17981812, UMLKSK CUI: C0268450 Gitelmans syndrome heterozygotes are partially protected from hypertension through partial genetic loss of function of the NCCT GENERIF, Score=1000, Pubmed Id: 18362449, UMLKSK CUI: C0268450 The causal gene of Gitelman's syndrome (SLC12A3) is not involved in determining blood pressure levels GENERIF, Score=1000, Pubmed Id: 15102966, UMLKSK CUI: C0268450 Human site directed mutagenesis is associated with Gitelman Syndrome in mice GENERIF, Score=734, Pubmed Id: 17159356, UMLKSK CUI: C0268450 13 different causative mutations in a cohort of Gitelman syndrome patients GENERIF, Score=1000, Pubmed Id: 17954289, UMLKSK CUI: C0268450 No relation was found between sodium-chloride cotransporter expression and type of mutation in the SLC12A3 gene was found in patients with Gitelman syndrome GENERIF, Score=1000, Pubmed Id: 18469313, UMLKSK CUI: C0268450 sequencing of PVALB was performed in 132 cases of Gitelman's syndrome in whom only one or no (N = 79) mutant SLC12A3 allele was found GAD, Score=1000, Pubmed Id: 15069170, UMLKSK CUI: C0268450 Title:Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome\|Association:Not Found\|Conclusion:We found four novel mutations in the NCCT gene in seven Japanese patients with GS. Moreover, our study suggests that the distribution of mutations in the NCCT gene in Japanese GS patients potentially differs from that in other populations. GENERIF, Score=840, Pubmed Id: 17654016, UMLKSK CUI: C0268450 Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes GENERIF, Score=1000, Pubmed Id: 17329572, UMLKSK CUI: C0268450 data suggest that the nature/position of SLC12A3 mutation, combined with male gender, is a determinant factor in the severity of Gitelman syndrome and provide new insights in the underlying pathogenic mechanisms of the disease GENERIF, Score=1000, Pubmed Id: 14675033, UMLKSK CUI: C0268450 novel point mutation within the SLC12A3 gene in our cohort of Gypsy families with Gitelman syndrome is highly suggestive of a founder effect GENERIF, Score=1000, Pubmed Id: 17873326, UMLKSK CUI: C0268450 Two sporadic cases of Gitelman's syndrome and two novel genotypes of SLC12A3 GENERIF, Score=1000, Pubmed Id: 16221718, UMLKSK CUI: C0268450 Patient with Gitelman syndrome is due to a mutation of the SLC123A gene
Human	RGS2	5997	regulator of G-protein signaling 2, 24kDa	GENERIF, Score=734, Pubmed Id: 18398336, UMLKSK CUI: C0268450 Silencing RGS-2 in Bartters syndrome/Gitelman's syndrome patients increased Ang II-induced Cai2+ release and signaling in silenced cells compared with not silenced cells
Human	PVALB	5816	parvalbumin	GENERIF, Score=1000, Pubmed Id: 18469313, UMLKSK CUI: C0268450 sequencing of PVALB was performed in 132 cases of Gitelman's syndrome in whom only one or no (N = 79) mutant SLC12A3 allele was found

XRefs (1)

XRef Types:

cui : 1

ToppGene Datasets:

none : 1

ToppGene Datasets	XRef Type	XRef Id	XRef	Values	Source	Top % Rank
	CUI	C0268450	Gitelman Syndrome	0		self

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