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 - Nesidioblastosis

Debug Stats

### Total Build Time: 21 ms 30.809 KB
CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 330 bytes
CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 581 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= 562 bytes
CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 4.136 KB
CONCEPT_RELATIONSHIPS gt=4 ms Completed: 4 ms rowSize= 9.122 KB
CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 14.743 KB
CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.150 KB
CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
Reload Stats

Disease (1)

Nesidioblastosis C0027773

Definition (1)

An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the PANCREAS and CONGENITAL HYPERINSULINISM. It is due to focal hyperplasia of pancreatic ISLET CELLS budding off from the ductal structures and forming new islets of Langerhans. Mutations in the islet cells involve the potassium channel gene KCNJ11 or the ATP-binding cassette transporter gene ABCC8, both on CHROMOSOME 11.

Semantic Types (1)

Disease or Syndrome (T047)

Parents (1)

C1257959

Ancestral Roots

Root	Root Plus One	Depth	Parent
Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612	Infant, Newborn, Diseases C0021290	4	Congenital Hyperinsulinism C1257959
Nutritional and Metabolic Diseases C0028715	Metabolic Diseases C0025517	6	Congenital Hyperinsulinism C1257959
Digestive System Diseases C0012242	Pancreatic Diseases C0030286	4	Congenital Hyperinsulinism C1257959

Relationships (18)

Relation Types:

diso_to_anat : 5

diso_to_diso : 13

Relationships:

none : 5

associated_with : 1

is_associated_anatomic_site_of : 2

is_normal_cell_origin_of_disease : 1

is_normal_tissue_origin_of_disease : 1

is_primary_anatomic_site_of_disease : 1

isa : 3

mapped_to : 3

permuted_term_of : 1

Relation Type	Co-Occuring Concept Count	Relationship	Concept
DISO_to_DISO	17		Complication Aspects C1171258
DISO_to_DISO	12		Hypoglycemia C0020615
DISO_to_DISO	12		Pancreatic Neoplasm C0030297
DISO_to_DISO	11		HYPERINSULINEMIA C0020459
DISO_to_DISO	11		Insulinoma C0021670
DISO_to_ANAT		is_associated_anatomic_site_of	Digestive System C0012240
DISO_to_ANAT		is_primary_anatomic_site_of_disease	Endocrine System C0014136
DISO_to_ANAT		is_normal_cell_origin_of_disease	Islet Cell C1522529
DISO_to_ANAT		is_normal_tissue_origin_of_disease	Islets of Langerhans C0022131
DISO_to_ANAT		is_associated_anatomic_site_of	Pancreas C0030274
DISO_to_DISO		mapped_to	Hyperinsulinemic hypoglycemia, familial, 1 C2931832
DISO_to_DISO		mapped_to	Hyperinsulinemic hypoglycemia, familial, 2 C2931833
DISO_to_DISO		mapped_to	Hyperinsulinism, autosomal recessive C2931886
DISO_to_DISO		associated_with	Hyperplasia C0020507
DISO_to_DISO		isa	Hyperplasia of islet alpha cells with gastrin excess C0271721
DISO_to_DISO		isa	Hyperplasia of islet alpha cells with glucagon excess C0271717
DISO_to_DISO		isa	Hyperplasia of pancreatic islet beta cell C0271706
DISO_to_DISO		permuted_term_of	Nesidioblastosis C0027773

Genes (8)

Species:

human : 8

Species	Gene	GeneId	Gene Name	Evidence
Human	ABCC8	6833	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	GENERIF, Score=1000, Pubmed Id: 17942822, UMLKSK CUI: C0027773 Genetic mechanism to explain atypical histological diffuse forms of congenital hyperinsulinism due to mutations of ABCC8 OMIM, Score=1000, UMLKSK CUI: C0027773 Islet cell hyperplasia, diffuse GENERIF, Score=1000, Pubmed Id: 18988933, UMLKSK CUI: C0027773 Nonsense mutation and a missense mutation in ABCC8 gene is associated with aberrant pancreatic development in congenital hyperinsulinism GENERIF, Score=1000, Pubmed Id: 17597441, UMLKSK CUI: C0027773 We present a term large-for-gestation neonate with congenital hyperinsulinism, who was found to have a novel sporadic missense mutation in the ABCC8 gene GENERIF, Score=734, Pubmed Id: 18390792, UMLKSK CUI: C0027773 This new ABCC8 mutation is associated with neonatal hyperinsulinism progressing within 10 years to insulinopenic diabetes GENERIF, Score=1000, Pubmed Id: 18339976, UMLKSK CUI: C0027773 Long-term follow-up of three patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene GENERIF, Score=694, Pubmed Id: 11867634, UMLKSK CUI: C0027773 Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels GENERIF, Score=673, Pubmed Id: 17575084, UMLKSK CUI: C0027773 study identifies a group of congenital hyperinsulinism-causing SUR1 mutations that cause channel biogenesis/trafficking defects
Human	SLC16A1	6566	solute carrier family 16 (monocarboxylate transporter), member 1	OMIM, Score=1000, UMLKSK CUI: C0027773 Islet cell hyperplasia, diffuse
Human	KCNJ11	3767	potassium inwardly-rectifying channel, subfamily J, member 11	GENERIF, Score=1000, Pubmed Id: 16332676, UMLKSK CUI: C0027773 identification of a novel KCNJ11 mutation associated with congenital hyperinsulinism that renders a missense mutation, F55L, in the Kir6.2 protein OMIM, Score=1000, UMLKSK CUI: C0027773 Islet cell hyperplasia, diffuse
Human	HNF4A	3172	hepatocyte nuclear factor 4, alpha	GENERIF, Score=1000, Pubmed Id: 18268044, UMLKSK CUI: C0027773 Macrosomic infants with transient or persistent hyperinsulinemic hypoglycemia should be screened for HNF4A mutations if there is a family history of youth-onset diabetes
Human	HADH	3033	hydroxyacyl-CoA dehydrogenase	GENERIF, Score=1000, Pubmed Id: 14693719, UMLKSK CUI: C0027773 SCHAD deficiency can result in persistent hyperinsulinemic hypoglycemia of infancy
Human	GLUD1	2746	glutamate dehydrogenase 1	GENERIF, Score=1000, Pubmed Id: 11840195, UMLKSK CUI: C0027773 Two missense mutations give rise to two different forms of congenital hyperinsulinism/hyperammonemia
Human	GCK	2645	glucokinase (hexokinase 4)	GENERIF, Score=1000, Pubmed Id: 18450771, UMLKSK CUI: C0027773 In the largest study performed to date on GCK in children with congenital hyperinsulinism, GCK mutations were found only in medically responsive children who were negative for ABCC8 and KCNJ11 mutations GENERIF, Score=884, Pubmed Id: 17976205, UMLKSK CUI: C0027773 study of a pedigree with 8 affected persistent hyperinsulinaemic hypoglycaemia of infancy individuals; the novel GCK mutation G68V is associated with variable phenotypic severity
Human	DDC	1644	dopa decarboxylase (aromatic L-amino acid decarboxylase)	GENERIF, Score=1000, Pubmed Id: 16403819, UMLKSK CUI: C0027773 Immunohistochemical detection of DOPA decarboxylase shows diffuse staining of Langerhans islets in congenital hyperinsulinism

XRefs (1)

XRef Types:

cui : 1

ToppGene Datasets:

none : 1

ToppGene Datasets	XRef Type	XRef Id	XRef	Values	Source	Top % Rank
	CUI	C0027773	Nesidioblastosis	0		self

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