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 - Epilepsy, Absence

Debug Stats

### Total Build Time: 64 ms 50.639 KB
CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 378 bytes
CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 727 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= 557 bytes
CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 1.522 KB
CONCEPT_RELATIONSHIPS gt=29 ms Completed: 29 ms rowSize= 14.232 KB
CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 31.891 KB
CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.151 KB
CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
Reload Stats

Disease (2)

Epilepsy, Absence C0014553

Absence Epilepsy

Definition (1)

A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)

Semantic Types (1)

Disease or Syndrome (T047)

Parents (1)

C0014548

Ancestral Roots

Root	Root Plus One	Depth	Parent
Nervous System Diseases C0027765	Central Nervous System Diseases C0007682	6	Epilepsy, Generalized C0014548

Relationships (98)

Relation Types:

diso_to_anat : 12

diso_to_chem : 48

diso_to_diso : 34

diso_to_phen : 2

diso_to_phys : 2

Relationships:

none : 32

clinically_similar : 1

is_associated_anatomic_site_of : 2

is_primary_anatomic_site_of_disease : 1

isa : 17

mapped_to : 1

may_treat : 41

parent_is_cdrh : 1

permuted_term_of : 1

used_for : 1

Page Size

Current 25

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Prior Page

Current 1

Relation Type	Co-Occuring Concept Count	Relationship	Concept
DISO_to_PHEN	119		genetic aspects C0017399
DISO_to_PHEN	117		genetic aspects C0017399
DISO_to_CHEM	50		Anticonvulsants C0003286
DISO_to_DISO	41		Complication Aspects C1171258
DISO_to_ANAT	37		Cerebral Cortex C0007776
DISO_to_CHEM	35		Anticonvulsants C0003286
DISO_to_ANAT	34		Brain C0006104
DISO_to_ANAT	29		Cerebral Cortex C0007776
DISO_to_ANAT	28		Thalamic structure C0039729
DISO_to_ANAT	27		Thalamic structure C0039729
DISO_to_DISO	26		Complication Aspects C1171258
DISO_to_DISO	25		chemically induced C0007994
DISO_to_DISO	24		chemically induced C0007994
DISO_to_ANAT	23		Brain C0006104
DISO_to_ANAT	20		Neurons C0027882
DISO_to_DISO	20		Epilepsy, Generalized C0014548
DISO_to_CHEM	18		GABA-A Receptor C0034807
DISO_to_DISO	18		Animal Disease Models C0012644
DISO_to_DISO	16		Seizures C0036572
DISO_to_ANAT	15		Neurons C0027882
DISO_to_CHEM	15		Ethosuximide C0015043
DISO_to_DISO	15		Animal Disease Models C0012644
DISO_to_PHYS	15		Action Potential C0001272
DISO_to_PHYS	14		Action Potential C0001272
DISO_to_CHEM	13		CA CHANNELS T TYPE C0752118

Genes (22)

Species:

human : 22

Species	Gene	GeneId	Gene Name	Evidence
Human	EIG3	432400	Epilepsy, idiopathic generalized, susceptibility to 3	OMIM, Score=1000, UMLKSK CUI: C0014553 Childhood absence epilepsy (ECA1 {600131}, ECA2 {607681}, ECA3 {607682}) OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures OMIM, Score=1000, UMLKSK CUI: C0014553 Juvenile absence epilepsy (JAE, {607631})
Human	NHLRC1	378884	NHL repeat containing 1	OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures
Human	EIG2	353124	Epilepsy, idiopathic generalized, susceptibility to 2	OMIM, Score=1000, UMLKSK CUI: C0014553 Childhood absence epilepsy (ECA1 {600131}, ECA2 {607681}, ECA3 {607682}) OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures OMIM, Score=1000, UMLKSK CUI: C0014553 Juvenile absence epilepsy (JAE, {607631})
Human	LGI4	163175	leucine-rich repeat LGI family, member 4	GENERIF, Score=1000, Pubmed Id: 14505228, UMLKSK CUI: C0014553 Screening of the LGI4 coding region in BFIC and childhood absence epilepsy (CAE) revealed several frequent exonic polymorphisms
Human	EFHC1	114327	EF-hand domain (C-terminal) containing 1	OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures
Human	CACNA1G	8913	calcium channel, voltage-dependent, T type, alpha 1G subunit	GENERIF, Score=1000, Pubmed Id: 12676336, UMLKSK CUI: C0014553 Since allele and genotype distributions of CACNA1G polymorphisms in cases studied are not remarkably different from control groups, CACNA1G is not an important susceptibility gene for childhood absence epilepsy in the Han Chinese population
Human	CACNA1H	8912	calcium channel, voltage-dependent, T type, alpha 1H subunit	GENERIF, Score=1000, Pubmed Id: 14729682, UMLKSK CUI: C0014553 Ca(v)3.2 has a role in calcium influx during physiological activation and mutations may be causative in the propensity for seizures in patients with childhood absence epilepsy GENERIF, Score=1000, Pubmed Id: 17156077, UMLKSK CUI: C0014553 Case-control comparisons and the transmission disequilibrium test (TDT) both supported a coding SNP (cSNP) rs9934839 (R603R) in exon 9 as being close related to childhood absence epilepsy
Human	EPM2A	7957	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures
Human	ALDH5A1	7915	aldehyde dehydrogenase 5 family, member A1	OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures
Human	SCN1A	6323	sodium channel, voltage-gated, type I, alpha subunit	OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures
Human	RCN2	5955	reticulocalbin 2, EF-hand calcium binding domain	GENERIF, Score=901, Pubmed Id: 18435749, UMLKSK CUI: C0014553 RCN2 is implicated in idiopathic absence epilepsy
Human	OPRM1	4988	opioid receptor, mu 1	OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures OMIM, Score=1000, UMLKSK CUI: C0014553 Childhood absence epilepsy (ECA1 {600131}, ECA2 {607681}, ECA3 {607682}) OMIM, Score=1000, UMLKSK CUI: C0014553 Juvenile absence epilepsy (JAE, {607631})
Human	ME2	4200	malic enzyme 2, NAD(+)-dependent, mitochondrial	OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures OMIM, Score=1000, UMLKSK CUI: C0014553 Juvenile absence epilepsy (JAE, {607631}) OMIM, Score=1000, UMLKSK CUI: C0014553 Childhood absence epilepsy (ECA1 {600131}, ECA2 {607681}, ECA3 {607682})
Human	GABRG2	2566	gamma-aminobutyric acid (GABA) A receptor, gamma 2	GENERIF, Score=673, Pubmed Id: 12117362, UMLKSK CUI: C0014553 The GABRG2 gene seems to confer a rare, rather than frequent, major susceptibility effect to common idiopathic absence epilepsy syndromes OMIM, Score=1000, UMLKSK CUI: C0014553 High frequency of absence seizures (several per day) OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures
Human	GABRB3	2562	gamma-aminobutyric acid (GABA) A receptor, beta 3	GENERIF, Score=1000, Pubmed Id: 17215107, UMLKSK CUI: C0014553 study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with childhood absence epilepsy. no evidence that the common functional C-variant confers a substantial epileptogenic effect to a broad spectrum of IGE syndromes GENERIF, Score=1000, Pubmed Id: 18514161, UMLKSK CUI: C0014553 Mutated GABRB3 could cause absence seizures through a gain in glycosylation of mutated exon 1a and exon 2, affecting maturation and trafficking of GABAR from endoplasmic reticulum to cell surface and resulting in reduced GABA-evoked currents GENERIF, Score=1000, Pubmed Id: 16835263, UMLKSK CUI: C0014553 Reduced expression of the GABRB3 gene could therefore be one potential cause for the development of Childhood Absence Epilepsy
Human	GABRA1	2554	gamma-aminobutyric acid (GABA) A receptor, alpha 1	OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures
Human	GABBR1	2550	gamma-aminobutyric acid (GABA) B receptor, 1	GENERIF, Score=1000, Pubmed Id: 12770685, UMLKSK CUI: C0014553 GABBR1 gene might not be a susceptibility gene for childhood absence epilepsy at least in the Chinese population
Human	EGR1	1958	early growth response 1	GENERIF, Score=901, Pubmed Id: 18435749, UMLKSK CUI: C0014553 EGR1 gene is implicated in idiopathic absence epilepsy
Human	EGI	1957	epilepsy, generalized, idiopathic	OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures OMIM, Score=1000, UMLKSK CUI: C0014553 Childhood absence epilepsy (ECA1 {600131}, ECA2 {607681}, ECA3 {607682}) OMIM, Score=1000, UMLKSK CUI: C0014553 Juvenile absence epilepsy (JAE, {607631})
Human	CSTB	1476	cystatin B (stefin B)	OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures (stage 2 and 3)
Human	CLCN2	1181	chloride channel, voltage-sensitive 2	OMIM, Score=1000, UMLKSK CUI: C0014553 High frequency of absence seizures (several per day) OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures may occur OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures GENERIF, Score=1000, Pubmed Id: 17580110, UMLKSK CUI: C0014553 CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy
Human	CACNB4	785	calcium channel, voltage-dependent, beta 4 subunit	OMIM, Score=1000, UMLKSK CUI: C0014553 Childhood absence epilepsy (ECA1 {600131}, ECA2 {607681}, ECA3 {607682}) OMIM, Score=1000, UMLKSK CUI: C0014553 Juvenile absence epilepsy (JAE, {607631}) OMIM, Score=1000, UMLKSK CUI: C0014553 Absence seizures

XRefs (1)

XRef Types:

cui : 1

ToppGene Datasets:

none : 1

ToppGene Datasets	XRef Type	XRef Id	XRef	Values	Source	Top % Rank
	CUI	C0014553	Epilepsy, Absence	0		self

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