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 - Diabetes Insipidus, Nephrogenic

Debug Stats

### Total Build Time: 60 ms 42.171 KB
CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 360 bytes
CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 533 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=4 ms Completed: 4 ms rowSize= 554 bytes
CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 5.378 KB
CONCEPT_RELATIONSHIPS gt=32 ms Completed: 32 ms rowSize= 10.467 KB
CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 23.529 KB
CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.165 KB
CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
Reload Stats

Disease (1)

Diabetes Insipidus, Nephrogenic C0162283

Definition (1)

A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or aquaporin-2 (AQUAPORINS); KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.

Semantic Types (1)

Disease or Syndrome (T047)

Parents (1)

C0011848

Ancestral Roots

Relationships (24)

Relation Types:

diso_to_anat : 1

diso_to_chem : 8

diso_to_diso : 11

diso_to_phen : 1

diso_to_phys : 3

Relationships:

none : 17

classifies : 2

is_primary_anatomic_site_of_disease : 1

mapped_to : 4

Relation Type	Co-Occuring Concept Count	Relationship	Concept
DISO_to_PHEN	56		genetic aspects C0017399
DISO_to_CHEM	30		Receptors, Vasopressin C0078077
DISO_to_DISO	29		chemically induced C0007994
DISO_to_CHEM	27		Aquaporin 2 C0213238
DISO_to_CHEM	25		Receptors, Vasopressin C0078077
DISO_to_DISO	25		chemically induced C0007994
DISO_to_DISO	24		Complication Aspects C1171258
DISO_to_PHYS	20		Mutation C0026882
DISO_to_CHEM	18		Aquaporins C0599635
DISO_to_DISO	13		Complication Aspects C1171258
DISO_to_PHYS	9		Mutation C0026882
DISO_to_CHEM	8		Aquaporin 2 C0213238
DISO_to_CHEM	8		Lithium C0023870
DISO_to_CHEM	8		Lithium Compounds C0206486
DISO_to_PHYS	8		Mutation, Missense C0599155
DISO_to_CHEM	7		Lithium Carbonate C0085217
DISO_to_DISO	7		Disease, X-Linked Genetic C1138434
DISO_to_ANAT		is_primary_anatomic_site_of_disease	Endocrine System C0014136
DISO_to_DISO		mapped_to	ADH-resistant diabetes insipidus C0677501
DISO_to_DISO		mapped_to	Acquired Nephrogenic Diabetes Insipidus C0268443
DISO_to_DISO		mapped_to	Diabetes Insipidus, Nephrogenic C0162283
DISO_to_DISO		mapped_to	Drug-induced nephrogenic diabetes insipidus C1263738
DISO_to_DISO		classifies	Other and unspecified diseases of kidney and ureters C0156258
DISO_to_DISO		classifies	Other diseases of kidney and ureters C0810036

Genes (19)

Species:

human : 19

Species	Gene	GeneId	Gene Name	Evidence
Human	BBS12	166379	Bardet-Biedl syndrome 12	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	BBS5	129880	Bardet-Biedl syndrome 5	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	TTC8	123016	tetratricopeptide repeat domain 8	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	TMEM67	91147	transmembrane protein 67	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	ARL6	84100	ADP-ribosylation factor-like 6	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	CEP290	80184	centrosomal protein 290kDa	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	BBS10	79738	Bardet-Biedl syndrome 10	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	BBS7	55212	Bardet-Biedl syndrome 7	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	MKS1	54903	Meckel syndrome, type 1	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	BBS9	27241	Bardet-Biedl syndrome 9	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	TRIM32	22954	tripartite motif containing 32	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	MKKS	8195	McKusick-Kaufman syndrome	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	CANX	821	calnexin	GAD, Score=1000, Pubmed Id: 11389590, UMLKSK CUI: C0162283 Title:Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.\|Association:Y\|Conclusion:Not Found
Human	BBS4	585	Bardet-Biedl syndrome 4	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	BBS2	583	Bardet-Biedl syndrome 2	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	BBS1	582	Bardet-Biedl syndrome 1	OMIM, Score=1000, UMLKSK CUI: C0162283 Nephrogenic diabetes insipidus
Human	AVPR2	554	arginine vasopressin receptor 2	GENERIF, Score=1000, Pubmed Id: 11868598, UMLKSK CUI: C0162283 A new mutation associated with nephrogenic diabetes insipidus was isolated: a 6-AA deletion between G107 and C112 GENERIF, Score=1000, Pubmed Id: 18726898, UMLKSK CUI: C0162283 AVPR2 variants & mutations in nephrogenic diabetes insipidus(NDI); spectrum of mutations varies from rare gene variants or polymorphisms not causing NDI to rare mutations causing NDI, among which arginine and tyrosine are the most common missense GENERIF, Score=923, Pubmed Id: 16825342, UMLKSK CUI: C0162283 The disorder nephrogenic diabetes insipidus (NDI) is inherited in an X-linked or autosomal fashion due to mutations in the genes encoding V2R or AQP2, respectively GENERIF, Score=923, Pubmed Id: 17389737, UMLKSK CUI: C0162283 Primary nocturanl enuresis and coexisting nephrogenic diabetes insipidus, as a result of a novel nonsense mutation in the V2R gene (C358X) GENERIF, Score=1000, Pubmed Id: 11754100, UMLKSK CUI: C0162283 A novel type of contiguous gene deletion of AVPR2 has been identified in unrelated Japanese kindreds with nephrogenic diabetes insipidus GENERIF, Score=717, Pubmed Id: 18323675, UMLKSK CUI: C0162283 Clinical nephrogenic diabetes insipidus phenotypes may correlate with the X-inactivation patterns in female carriers with heterozygote vasopressin type 2 receptor gene mutations GENERIF, Score=1000, Pubmed Id: 17216256, UMLKSK CUI: C0162283 Y205F missense mutation would cause nephrogenic diabetes insipidus
Human	ARHGAP4	393	Rho GTPase activating protein 4	GENERIF, Score=1000, Pubmed Id: 11754100, UMLKSK CUI: C0162283 A novel type of contiguous gene deletion of ARHGAP4 has been identified in unrelated Japanese kindreds with nephrogenic diabetes insipidus
Human	AQP2	359	aquaporin 2 (collecting duct)	GENERIF, Score=1000, Pubmed Id: 15100362, UMLKSK CUI: C0162283 population of the Mexican town with nephrogenic diabetes insipidus; 30% of the population was heterozygous for the V168M AQP2 mutation and 1% was homozygous for the mutation GENERIF, Score=923, Pubmed Id: 14662748, UMLKSK CUI: C0162283 Data report a frame-shift mutation in aquaporin-2 causing dominant nephrogenic diabetes insipidus GENERIF, Score=1000, Pubmed Id: 11929850, UMLKSK CUI: C0162283 Misrouting, instead of a lack of function, is a mechanism for the 'loss of function' phenotype in nephrogenic diabetes insipidus GENERIF, Score=1000, Pubmed Id: 18519086, UMLKSK CUI: C0162283 AQP2 mutations in nephrogenic diabetes insipidus (Review)

XRefs (1)

XRef Types:

cui : 1

ToppGene Datasets:

none : 1

ToppGene Datasets	XRef Type	XRef Id	XRef	Values	Source	Top % Rank
	CUI	C0162283	Diabetes Insipidus, Nephrogenic	0		self

Gataca is supported by...