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 - Encounter due to puberty

Debug Stats

### Total Build Time: 18 ms 37.833 KB
CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 346 bytes
CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
CONCEPT_RELATIONSHIPS gt=2 ms Completed: 2 ms rowSize= 106 bytes
CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 36.163 KB
CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.158 KB
CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
Reload Stats

Disease (1)

Encounter due to puberty C0677548

Genes (43)

Species:

human : 43

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Species	Gene	GeneId	Gene Name	Evidence
Human	EFHC1	114327	EF-hand domain (C-terminal) containing 1	OMIM, Score=1000, UMLKSK CUI: C0677548 Onset around puberty
Human	KISS1R	84634	KISS1 receptor	GENERIF, Score=1000, Pubmed Id: 16309735, UMLKSK CUI: C0677548 Recent identification of loss-of-function mutations in GPR54, a receptor for kisspeptin-1, has highlighted a new pathway for the timing of puberty and reproductive control GENERIF, Score=1000, Pubmed Id: 14573733, UMLKSK CUI: C0677548 Mutations in GPR54 cause autosomal recessive idiopathic hypogonadotropic hypogonadism in humans and mice, suggesting that this receptor is essential for normal gonadotropin-releasing hormone physiology and for puberty GENERIF, Score=1000, Pubmed Id: 16731583, UMLKSK CUI: C0677548 KiSS-1/GPR54 system has been proven as an essential gatekeeper of GnRH neurons, involved in their activation at puberty and their regulation by gonadal steroids
Human	BSCL2	26580	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	OMIM, Score=1000, UMLKSK CUI: C0677548 Lytic cystic lesions in appendicular bones (occurs after puberty) OMIM, Score=1000, UMLKSK CUI: C0677548 Insulin-resistant diabetes mellitus at puberty
Human	AGPAT2	10555	1-acylglycerol-3-phosphate O-acyltransferase 2	OMIM, Score=1000, UMLKSK CUI: C0677548 Insulin-resistant diabetes mellitus at puberty OMIM, Score=1000, UMLKSK CUI: C0677548 Lytic cystic lesions in appendicular bones (occurs after puberty)
Human	FBLN5	10516	fibulin 5	OMIM, Score=1000, UMLKSK CUI: C0677548 Onset of skin manifestations from birth to puberty
Human	FGF23	8074	fibroblast growth factor 23	OMIM, Score=1000, UMLKSK CUI: C0677548 Two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty
Human	TRPS1	7227	trichorhinophalangeal syndrome I	OMIM, Score=1000, UMLKSK CUI: C0677548 Accelerated bone age after puberty OMIM, Score=1000, UMLKSK CUI: C0677548 Delayed bone age before puberty
Human	SRD5A2	6716	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	OMIM, Score=1000, UMLKSK CUI: C0677548 Often reared as females until puberty OMIM, Score=1000, UMLKSK CUI: C0677548 Masculinization at puberty OMIM, Score=1000, UMLKSK CUI: C0677548 No breast development or menstruation at puberty
Human	SH3BP2	6452	SH3-domain binding protein 2	OMIM, Score=1000, UMLKSK CUI: C0677548 Progresses through puberty, then stabilizes
Human	PPARG	5468	peroxisome proliferator-activated receptor gamma	OMIM, Score=1000, UMLKSK CUI: C0677548 Onset of clinical features around puberty OMIM, Score=1000, UMLKSK CUI: C0677548 Insulin-resistant diabetes mellitus (onset around puberty) OMIM, Score=1000, UMLKSK CUI: C0677548 Loss of adipose tissue occurs around puberty
Human	NPY	4852	neuropeptide Y	GENERIF, Score=1000, Pubmed Id: 16785149, UMLKSK CUI: C0677548 higher concentrations of neuropeptide Y in constitutional delay of puberty(CDP) girls may be responsible for CDP and reduced levels of insulin growth factor-I(IGF-I)
Human	NEB	4703	nebulin	OMIM, Score=1000, UMLKSK CUI: C0677548 Scoliosis (onset around puberty)
Human	LMNA	4000	lamin A/C	OMIM, Score=1000, UMLKSK CUI: C0677548 Insulin-resistant diabetes mellitus (onset around puberty) OMIM, Score=1000, UMLKSK CUI: C0677548 Onset of clinical features around puberty OMIM, Score=1000, UMLKSK CUI: C0677548 Loss of adipose tissue occurs around puberty
Human	LEPR	3953	leptin receptor	GENERIF, Score=1000, Pubmed Id: 15784711, UMLKSK CUI: C0677548 Effect pf genetic and environmental factors on levels in female twins in puberty
Human	LEP	3952	leptin	GENERIF, Score=1000, Pubmed Id: 12843185, UMLKSK CUI: C0677548 leptin in the circulation may increase more rapidly during development than indicated by total leptin levels, and that these changes may serve as one of the signals to the central nervous system that metabolic conditions are adequate to support puberty GENERIF, Score=1000, Pubmed Id: 17763005, UMLKSK CUI: C0677548 Biphasic leptin decline, which exceeded the level expected, was independent of puberty, baseline adiposity and changes in adiposity, body composition, rate of weight loss, physical activity scores and insulin concentrations GENERIF, Score=1000, Pubmed Id: 11822578, UMLKSK CUI: C0677548 leptin level was significantly lower in the CDGP (constitutional delay of growth and puberty)group
Human	KRT14	3861	keratin 14	OMIM, Score=1000, UMLKSK CUI: C0677548 Onset of hyperpigmentation early childhood (3 months-6 years) fades after puberty
Human	KRT5	3852	keratin 5	OMIM, Score=1000, UMLKSK CUI: C0677548 Onset after puberty
Human	KISS1	3814	KiSS-1 metastasis-suppressor	GENERIF, Score=1000, Pubmed Id: 17334929, UMLKSK CUI: C0677548 Kisspeptin function appears to be fundamental to the initiation of puberty
Human	IHH	3549	indian hedgehog	OMIM, Score=1000, UMLKSK CUI: C0677548 Cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty
Human	IGFALS	3483	insulin-like growth factor binding protein, acid labile subunit	GENERIF, Score=1000, Pubmed Id: 18362293, UMLKSK CUI: C0677548 IGFALS sequence variants are unlikely to be a common association with pubertal delay in children with constitutional delay of groth and puberty GENERIF, Score=1000, Pubmed Id: 14762184, UMLKSK CUI: C0677548 Inactivation of the IGFALS gene caused delayed onset of puberty in 17 year old boy
Human	IGF1	3479	insulin-like growth factor 1 (somatomedin C)	GENERIF, Score=1000, Pubmed Id: 11822578, UMLKSK CUI: C0677548 IGF-I level was significantly lower in the CDGP (constitutional delay of growth and puberty)group GENERIF, Score=1000, Pubmed Id: 16720666, UMLKSK CUI: C0677548 first study to document an association between timing of puberty and adult insulin-like growth factor 1(IGF-I) levels GENERIF, Score=1000, Pubmed Id: 16785149, UMLKSK CUI: C0677548 higher concentrations of neuropeptide Y in constitutional delay of puberty(CDP) girls may be responsible for CDP and reduced levels of insulin growth factor-I(IGF-I) GENERIF, Score=1000, Pubmed Id: 12716804, UMLKSK CUI: C0677548 Poor glycemic control and differences in IGF-I levels and androgens accompany development of microalbuminuria at puberty; differences may account for sexual dimorphism in microalbuminuria risk during puberty and to disease progression
Human	HSD17B3	3293	hydroxysteroid (17-beta) dehydrogenase 3	OMIM, Score=1000, UMLKSK CUI: C0677548 Normal virilization at puberty
Human	HMBS	3145	hydroxymethylbilane synthase	OMIM, Score=1000, UMLKSK CUI: C0677548 Acute attacks rarely occur before puberty
Human	GRM1	2911	glutamate receptor, metabotropic 1	GENERIF, Score=1000, Pubmed Id: 18059092, UMLKSK CUI: C0677548 Expression of mGluR1 increases in human with hypothalamic hamartoma and in the female monkey hypothalamus at puberty
Human	GNRHR	2798	gonadotropin-releasing hormone receptor	GENERIF, Score=1000, Pubmed Id: 16968799, UMLKSK CUI: C0677548 A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia

XRefs (1)

XRef Types:

cui : 1

ToppGene Datasets:

none : 1

ToppGene Datasets	XRef Type	XRef Id	XRef	Values	Source	Top % Rank
	CUI	C0677548	Encounter due to puberty	0		self

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