Gaucher's Disease malady

MedlinePlus: Gaucher's disease is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. the buildup prevents these organs from working properly. there are three types: type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. it does not involve the brain. it can occur at any age. type 2, which causes severe brain damage, appears in infants. most children who have it die by age 2. in type 3, there may be liver and spleen enlargement, and signs of brain involvement appear gradually. gaucher's disease has no cure. treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. there is no good treatment for the brain damage of type 2. nih: national institute of neurological disorders and stroke²³

MalaCards: Gaucher's Disease, also known as gaucher disease, is related to hemolytic anemia and aplastic anemia. An important gene associated with Gaucher's Disease is GBA (glucosidase, beta, acid), and among its related pathways are Sphingolipid metabolism and RAR-Gamma-RXR-Alpha Degradation. The drugs nandrolone and oxymetholone and the compounds mannose 6-phosphate and glucosylceramide have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spleen and brain, and related mouse phenotypes are hematopoietic system and endocrine/exocrine gland.

NIH Rare Diseases: Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. Gaucher disease type 1 is the most common form of this condition. Gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the GBA gene.³⁰

NINDS: Gaucher disease is the most common of the inherited metabolic disorder known as lipid storage diseases. ³¹

Genetics Home Reference: Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.¹⁷

Wikipedia: Gaucher\'s disease (pron.: /ɡoʊˈʃeɪz/) is a genetic disease in which a fatty substance (lipid)...⁴⁴ more...

GeneReviews summary for gaucher

Aliases & Descriptions:

gaucher's disease 6 44 17 23 gaucher disease 7 44 15 30 16 17 31 32 43 glucosylceramidase deficiency 44 15 30 16 17 glucocerebrosidase deficiency 44 15 16 17 lipoid histiocytosis (kerasin type) 6 44 17 cerebroside lipidosis syndrome 44 30 17 glucosyl cerebroside lipidosis 44 30 17 kerasin thesaurismosis 44 30 17 glucocerebrosidosis 44 30 17 kerasin lipoidosis 44 30 17 glucosylceramide beta-glucosidase deficiency 44 17 glucosylceramide lipidosis 44 17 kerasin histiocytosis 44 17

gd 44 17 glucosylceramide beta-glucosidase deficiency (disorder) 6 kerasin thesaurismosis (disorder) 6 acute cerebral gaucher disease 30 anemia, splenic, familial 44 lipidosis, cerebroside 44 lipoid histiocytosis 43 gaucher splenomegaly 30 sphingolipidosis 1 30 gauchers disease 8 lipoidosis 43 anemia 43

Disease types for gaucher's disease family:

gaucher disease type 1	gaucher disease type 2
gaucher disease type 3	gaucher disease type 2 (acute)
gaucher disease type 3 (subacute/chronic)	gaucher disease, type iiic

Diseases related to gaucher's disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 969)

id	Related Disease	Score	Top Affiliating Genes
1	hemolytic anemia	35.4	F5, F2, TNF, PKLR, HBB, ADA
2	aplastic anemia	35.1	IL18, IL6, TNF, CYP1A1, HFE, CSF1
3	iron deficiency anemia	33.3	CAT, TNF, CYP1A1, HFE
4	fanconi's anemia	33.2	CLK2, PARK2, UBC, IL6, HSP90AA1, HSPA4
5	niemann–pick disease	32.7	CHIT1, ASAH2, SMPD1, PSAP
6	beta thalassemia	32.6	VDR, HBB, HFE
7	pyruvate kinase deficiency	32.2	MTHFR, PKLR, HFE
8	anemia	32.0	VDR, CLK2, PARK2, CHIT1, LDLR, UBC
9	sickle cell anemia	31.9	LDLR, MTHFR, GUSB, MBL2, F5, F2
10	parkinson's disease	31.5	SNCA, ADPRH, GBA
11	arthritis	31.4	IL6, TNF, CTSB, COL2A1
12	sphingolipidosis	30.9	ASAH2, GLA, PSAP
13	krabbe disease	30.9	CHIT1, ARSA, HEXA, PSAP, GALC
14	gangliosidosis	30.7	CHIT1, UGCG, ARSH, ARSA, GLA, HEXA
15	gaucher disease type 1	30.7	CHIT1, UGCG, PSAP, ADA, GBA
16	splenomegaly	29.7	CHIT1, APOE, SMPD1, HBB, TKT, GBA
17	hepatitis c	29.6	LDLR, IL18, CCL4, F2, TNF, HFE
18	chitotriosidase deficiency	29.5	CHIT1, CHIA, GBA
19	tay-sachs disease	29.5	ARSA, GLA, HEXA, PSAP
20	metachromatic leukodystrophy	29.4	ARSH, ARSA, IDUA, HEXA, PSAP, GALC
21	hydrocephalus	29.2	UBC, MTHFR, ARSH, ARSA, IL1R1, APOE
22	hydrops fetalis	29.1	GUSB, HBB, GBA, GBE1
23	glycogen storage disease	28.9	MTHFR, LAMP2, F2, CAT, GLA, GBA
24	thalassemia	28.5	VDR, BGLAP, CHIT1, MTHFR, IL6, F5
25	pick's disease	28.3	CHIT1, UGCG, ASAH2, APOE, CCL18, SNCA
26	pancytopenia	28.3	ACE, DHFR, CSF1, GBA
27	lung carcinoma	28.2	BMP4, GUSB, IL1R1, F2R, HSP90AA1, ESR2
28	leukodystrophy	28.1	ARSH, ARSA, IDUA, GLA, TNF, HEXA
29	neutropenia	28.0	S100B, GUSB, IL1R1, IL6, MBL2, TNF
30	progressive myoclonus epilepsy	27.9	PARK2, SCARB2, UBC, GBA, GBE1
31	squamous cell carcinoma	27.8	UGCG, LDLR, IL1R1, F2R, HSP90AA1, HSPA4
32	myoclonus epilepsy	27.7	PARK2, SCARB2, UBC, CTSB, GBA, GBE1
33	immunodeficiency	27.6	PARK2, IL18, IL6, MBL2, HSP90AA1, HSPA4
34	plasmodium falciparum malaria	27.6	CHIT1, CD36, IL18, CCL4, HBB, DHFR
35	thrombophilia	27.4	MTHFR, APOE, F9, F5, F2, F2R
36	myoclonus	27.3	PARK2, SCARB2, UBC, CTSB, SNCA, GBA
37	hyperparathyroidism	27.2	VDR, BGLAP, CD36, IL6, TNF, TNFRSF11B
38	inflammatory bowel disease	27.2	VDR, BGLAP, GUSB, IL18, IL1R1, IL6
39	thrombosis	27.1	MTHFR, F5, F2
40	hemolytic-uremic syndrome	27.1	GUSB, IL1R1, IL6, CCL4, F2, TNF
41	congestive heart failure	26.9	CD36, IL6, CCL2, F2, CAT, TNF
42	thromboembolism	26.9	MTHFR, F9, F5, F2, F2R
43	tuberculosis	26.8	VDR, MBL2, CCL2, TNF
44	xeroderma pigmentosum	26.7	UBC, MBL2, CAT, CYP1A1, DHFR, PSAP
45	herpes simplex	26.7	VDR, BGLAP, PARK2, UBC, S100B, IL18
46	aseptic meningitis	26.6	GUSB, IL1R1, ADA
47	iron overload	26.5	VDR, CHIT1, F5, F2, CAT, TNF
48	breast cancer	26.5	VDR, MTHFR, IL6, ESR2, TNF, CYP1A1
49	non-small cell lung carcinoma	26.4	BMP4, IL6, F2R, HSPA4, CAT, ESR2
50	adrenoleukodystrophy	26.4	S100B, IL6, CAT, TNF, C11orf58

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 cycloserine, darbepoetin alfa,recombinant, epoetin alfa,recombinant, nandrolone, nandrolone decanoate, nandrolone phenpropionate, oxymetholone, sodium ascorbate

Genetic tests related to gaucher's disease:

id	Genetic test	Affiliating Genes
1	Gaucher's Disease clinical/research	GBA

MalaCards organs/tissues related to gaucher's disease:

²²

MGI Mouse Phenotypes related to gaucher's disease:

²⁵ (show all 25)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	10.4	ADA, CTSK, ARSA, CD97, BMP4
2	endocrine/exocrine gland phenotype	MP:0005379	9.9	PSAP, TKT, CTSK, GUSB, LDLR
3	craniofacial phenotype	MP:0005382	9.7	GALC, CSF1, HEXA, COL2A1, CTSK, IDUA
4	liver/biliary system phenotype	MP:0005370	9.0	GALC, F9, IL6, IL1R1, CD36, BMP4
5	integument phenotype	MP:0010771	8.4	CTSB, SNCA, ACPP, HBB, CSF1, GBA
6	normal phenotype	MP:0002873	8.2	CYP1A1, CTSB, COL2A1, PKLR, HBB, HFE
7	reproductive system phenotype	MP:0005389	7.7	SPP1, SNCA, SMPD1, HBB, PSAP, CSF1
8	skeleton phenotype	MP:0005390	7.4	GALC, GBA, ADA, CSF1, PSAP, HEXA
9	immune system phenotype	MP:0005387	7.0	GBA, HSP90AA1, F2, IDUA, F9, MBL2
10	nervous system phenotype	MP:0003631	6.5	HSPA4, ESR2, SPP1, SNCG, SNCA, COL2A1
11	vision/eye phenotype	MP:0005391	INF	F2R, TNF, COL2A1, HEXA, TKT, PSAP
12	digestive/alimentary phenotype	MP:0005381	INF	ESR2, CTSB, SNCA, COL2A1, HFE, PSAP
13	cellular phenotype	MP:0005384	INF	SPP1, TNFRSF11B, TNF, ESR2, GLA, CAT
14	renal/urinary system phenotype	MP:0005367	INF	PSAP, TKT, HEXA, HBB, COL2A1, SNCA
15	muscle phenotype	MP:0005369	INF	IDUA, ESR2, TNF, SPP1, PSAP, CSF1
16	behavior/neurological phenotype	MP:0005386	INF	COL2A1, SMPD1, SNCA, SNCG, CTSB, SPP1
17	cardiovascular system phenotype	MP:0005385	INF	COL2A1, SNCA, SPP1, CYP1A1, TNFRSF11B, TNF
18	hearing/vestibular/ear phenotype	MP:0005377	INF	TNFRSF11B, COL2A1, HEXA, PSAP, CSF1, ESR2
19	growth/size phenotype	MP:0005378	INF	GALC, GBA, CTSB, CTSK, SPP1, TNFRSF11B
20	adipose tissue phenotype	MP:0005375	INF	IDUA, ESR2, TNF, ACE, TKT, CCL2
21	limbs/digits/tail phenotype	MP:0005371	INF	COL2A1, ACP5, HEXA, HFE, THBS3, CSF1
22	mortality/aging	MP:0010768	INF	PARK2, BMP4, VDR, SCARB2, ADA, CSF1
23	other phenotype	MP:0005395	INF	CSF1, HBB, CTSB, CTSK, SPP1, ESR2
24	respiratory system phenotype	MP:0005388	INF	GBE1, GBA, ADA, COL2A1, SMPD1,
25	homeostasis/metabolism phenotype	MP:0005376	INF	SMPD1, SNCA, SNCG, CTSB, CTSK, SPP1

Articles related to gaucher's disease:

(show top 50)    (show all 421)

id	Title	Authors	Year	Affiliating Genes
1	Glucosidase acid beta gene mutations in Egyptian chil dren with Gaucher disease and relation to disease phenotypes. (21633851)	El-Morsy Z.... El-Hady D.A.	2011	GBA
2	The pharmacological chaperone isofagomine increases t he activity of the Gaucher disease L444P mutant form of beta-glucosidase. (20148966)	Khanna R.... Valenzano K.J.	2010	GBA
3	Force majeure: therapeutic measures in response to re stricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. (19804996)	Hollak C.E.... Cox T.M.	2010	GBA
4	Saposin C mutations in Gaucher disease patients resul ting in lysosomal lipid accumulation, saposin C deficiency, but normal prosapos in processing and sorting. (20484222)	Vaccaro A.M.... Salvioli R.	2010	PSAP
5	Proteinase-activated receptor (PAR1) polymorphic vari ant correlates with thrombocytopenia in Gaucher disease. (19969492)	Altarescu G.... Elstein D.	2010	F2R, EPRS
6	Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. (19265748)	Grabowski G.A.... vom Dahl S.	2009	GBA
7	Gaucher disease. (17996473)	Guggenbuhl P.... Chales G.	2008	GBA
8	Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry. (18972510)	Tropak M.B.... Mahuran D.J.	2008	GBA
9	Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density. (18317771)	Arnheim E.... Altarescu G.	2008	VDR, CYP1A1, BMP4
10	Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. (18339181)	Aerts J.M.... de Koster C.G.	2008	CHIT1
11	Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease (18178337)	Dandana A.... Miled A.	2008	GBA
12	Gaucher disease: report of de novo GBA mutation in a Spanish family. (18313951)	Alfonso P.... Giraldo P.	2008	GBA
13	'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. (18404411)	Biegstraaten M.... Hollak C.E.	2008	GBA
14	Prenatal diagnosis of Gaucher disease (18240370)	Germain D.P.... Benistan K.	2007	GBA
15	Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. (17032149)	Wenstrup R.J.... Hangartner T.N.	2007	GBA
16	Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine (18030725)	Horovenko N.H.... Pichkur N.O.	2007	GBA
17	Diagnosis and treatment of Gaucher disease in Croatia (18959062)	Mrsic M.	2007	ADA, GBA
18	Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease. (17291472)	Wajner A.... Coelho J.C.	2007	CHIT1
19	Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants. (17163678)	Sawkar A.R.... Kelly J.W.	2006	GBA
20	Blood oxidative stress markers in Gaucher disease pat ients. (16125160)	Roversi F.M.... D'Almeida V.	2006	CAT
21	An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment. (16199246)	Pastores G.M.... Kolodny E.H.	2005	CHIT1
22	Gaucher disease: complexity in a 'simple' disorder. (15464415)	Sidransky E.	2004	GBA
23	Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease. (14962251)	Moller H.J.... Moestrup S.K.	2004	CD163
24	Management of Gaucher disease in a post-communist transitional health care system: Croatian experience. (14515422)	MrsiA8 M.... Rovers D.	2003	ADA
25	Gaucher's disease with Parkinson's disease: clinical and pathological aspects. (12847165)	Bembi B.... Capus L.	2003	GBA
26	The interleukin-6 promoter polymorphism in Gaucher disease: a new modifier gene? (12897342)	Altarescu G.... Mates M.	2003	IL6
27	Pregnancy after avascular necrosis of the femur complicating Gaucher's disease. (11174510)	Cleary J.E.... Baxi L.V.	2001	GBA
28	Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance. (11044944)	Poll L.W.... MAPdder U.	2000	GBA
29	Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. (10961902)	Moran M.T.... Cox T.M.	2000	CTSB, CTSK, CCL18
30	Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. (10649495)	Stone D.L.... Sidransky E.	2000	GBA
31	Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. (10079102)	Grace M.E.... Desnick R.J.	1999	GBA
32	Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? (10352942)	Stone D.L.... Sidransky E.	1999	GBA
33	Cytokines in Gaucher's disease. (10400826)	Barak V.... Yatziv S.	1999	IL1R1
34	Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. (10480365)	Ida H.... Eto Y.	1999	PKLR
35	Alglucerase treatment of type 1 Gaucher disease with pulmonary involvement. (10197233)	Martinez Odrizola P.... Miguel F.	1998	GBA
36	Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. (9207436)	Ponce E.... Grabowski G.	1997	GBA
37	Alglucerase treatment of type I Gaucher's disease. Preliminary results in Spain. Spanish Group on Gaucher's Disease (9381260)	PAcrez-Calvo J.I.... Giralt M.	1997	GBA
38	Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease. (9382473)	Schiffmann R.... Barton N.W.	1997	GBA
39	Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (9331372)	Winfield S.L.... Sidransky E.	1997	GBA, CLK2, THBS3
40	Pulmonary hypertension in two patients with type I Gaucher disease while on alglucerase therapy. (9210915)	Harats D.... Zimran A.	1997	GBA
41	Alglucerase. A pharmacoeconomic appraisal of its use in the treatment of Gaucher's disease. (10155294)	Whittington R.... Goa K.L.	1995	GBA
42	Pathological findings in Gaucher disease type 2 patients following enzyme therapy. (7672788)	Bove K.E.... Grabowski G.A.	1995	GBA
43	Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site. (8076951)	Tuteja R.... Baralle F.E.	1994	GBA
44	Gaucher's disease in the presence of normal glucocerebrosidase activity. (1568755)	Schofield D.E.... Farrell D.F.	1992	GBA
45	Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA. (1415223)	He G.S.... Grabowski G.A.	1992	GBA
46	Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. (1899336)	Latham T.E.... Smith F.I.	1991	GBA
47	Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. (1961718)	Beutler E.... West C.	1991	GBA
48	Replacement therapy for inherited enzyme deficiency-- macrophage-targeted glucocerebrosidase for Gaucher's disease. (2023606)	Barton N.W.... Argoff C.E.	1991	GBA
49	A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. (2295698)	Zimran A.... Beutler E.	1990	GBA, GBAP1
50	Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease. (2223847)	Aerts J.M.... Tager J.M.	1990	GBA, PSAP

Genes related to gaucher's disease according to GeneCards:

(show top 50)    (show all 82)

id	Symbol	Description	Score	GeneCards Section Context
1	GBA	glucosidase, beta, acid	11.1	Summaries, Orthologs, Publications
2	CHIT1	chitinase 1 (chitotriosidase)	11.1	Publications, UniProt Related, Summaries
3	PSAP	prosaposin	11.1	Summaries, Publications
4	FAM189B	family with sequence similarity 189, member B	11.1	Summaries, Publications
5	UGCG	UDP-glucose ceramide glucosyltransferase	11.0	Publications
6	ADA	adenosine deaminase	11.0	Publications
7	MTX1	metaxin 1	11.0	Publications
8	CCL18	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	11.0	Publications
9	THBS3	thrombospondin 3	11.0	Publications
10	PKLR	pyruvate kinase, liver and RBC	11.0	Publications
11	MRC1	mannose receptor, C type 1	11.0	Publications
12	ACP5	acid phosphatase 5, tartrate resistant	11.0	Publications
13	LAMP1	lysosomal-associated membrane protein 1	11.0	Publications
14	ARSA	arylsulfatase A	11.0	Publications
15	HEXA	hexosaminidase A (alpha polypeptide)	11.0	Publications
16	ASAH2	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	11.0
17	CHIA	chitinase, acidic	11.0
18	IDUA	iduronidase, alpha-L-	11.0
19	GBA3	glucosidase, beta, acid 3 (cytosolic)	11.0	Publications
20	ARSH	arylsulfatase family, member H	11.0
21	GALC	galactosylceramidase	11.0
22	ADPRH	ADP-ribosylarginine hydrolase	11.0
23	SMPD1	sphingomyelin phosphodiesterase 1, acid lysosomal	11.0
24	GLA	galactosidase, alpha	11.0
25	F9	coagulation factor IX	11.0	Publications
26	GUSB	glucuronidase, beta	11.0
27	BGLAP	bone gamma-carboxyglutamate (gla) protein	11.0	Publications
28	DHFR	dihydrofolate reductase	11.0	Publications
29	HBB	hemoglobin, beta	11.0
30	MTX1P1	metaxin 1 pseudogene 1	11.0	Publications
31	GBAP1	glucosidase, beta, acid pseudogene 1	11.0	Publications, Orthologs
32	C11orf58	chromosome 11 open reading frame 58	11.0	Publications
33	SCAMP3	secretory carrier membrane protein 3	11.0	Publications
34	IGSF1	immunoglobulin superfamily, member 1	11.0	Publications
35	CLK2	CDC-like kinase 2	11.0	Publications
36	SNCG	synuclein, gamma (breast cancer-specific protein 1)	11.0	Publications
37	SEC14L2	SEC14-like 2 (S. cerevisiae)	11.0	Publications
38	MOGS	mannosyl-oligosaccharide glucosidase	11.0
39	LAMP2	lysosomal-associated membrane protein 2	11.0	Publications
40	EMR2	egf-like module containing, mucin-like, hormone receptor-like 2	11.0	Publications
41	EMR3	egf-like module containing, mucin-like, hormone receptor-like 3	11.0	Publications
42	LAMP3	lysosomal-associated membrane protein 3	11.0	Publications
43	CD163	CD163 molecule	11.0	Publications
44	SCARB2	scavenger receptor class B, member 2	11.0	Publications
45	CD97	CD97 molecule	11.0	Publications
46	CTSK	cathepsin K	11.0	Publications
47	TCP1	t-complex 1	11.0	Publications
48	BMP4	bone morphogenetic protein 4	11.0	Publications
49	COL2A1	collagen, type II, alpha 1	11.0	Publications
50	EPRS	glutamyl-prolyl-tRNA synthetase	11.0	Publications

Pathways related to gaucher's disease according to GeneDecks:

(show all 39)

id	Pathway	Score	Top Affiliating Genes
1	Sphingolipid metabolism20	10.6	GALC, GBA, SMPD1, GLA, ARSA, ASAH2
2	RAR-Gamma-RXR-Alpha Degradation36	10.2	CSF1, CCL18, CCL4, UBC, BMP4
3	PGC1Alpha Pathway36	10.2	CCL18, CCL4, IL1R1, IL18, BMP4
4	Development Hedgehog and PTH signaling pathways in bone and cartilage development10	10.1	COL2A1, SPP1, BGLAP, VDR
5	NFAT Signaling and Lymphocyte Interactions36	10.1	CCL18, CCL2, CCL4, BMP4
6	Antimetabolite Pathway - Folate Cycle, Pharmacodynamics34	10.1	MTHFR, DHFR, ADA
7	Lysosome20	9.9	SCARB2, GALC, GBA, PSAP, HEXA, ACP5
8	Warfarin Pathway, Pharmacodynamics34	9.9	BGLAP, F9, F2
9	IL-6 Pathway36	9.8	CSF1, CCL2, CCL4, IL18, BMP4
10	Endothelin-1 Signaling Pathway36	9.7	CSF1, CCL18, IL6, IL18, BMP4
11	Phagosome20	9.7	THBS3, MBL2, CD36, MRC1, LAMP2, LAMP1
12	Complement and coagulation cascades20	9.4	F2R, F2, F5, F9, MBL2
13	Parkinsons Disease Pathway36	9.4	EPRS, SNCA, HSPA4, UBC, PARK2
14	Osteoclast differentiation20	9.3	CSF1, ACP5, CTSK, TNFRSF11B, TNF, IL1R1
15	ERK Signaling36	9.3	COL2A1, SPP1, ESR2, CCL18, IL6, IL18
16	Rho Family GTPases36	9.3	CSF1, COL2A1, SPP1, CCL18, CCL2, CCL4
17	LDL Oxidation in Atherogenesis36	9.3	CSF1, SMPD1, TNF, CCL2, CD36
18	SOCS Pathway36	9.1	CCL18, CCL2, CCL4, IL6, IL18, BMP4
19	Metabolic pathways20	9.0	HEXA, TKT, DHFR, ADA, EPRS, GBA
20	African trypanosomiasis20	9.0	HBB, TNF, IL6, IL18
21	Glucocorticoid Receptor Signaling36	9.0	HSP90AA1, CCL18, CCL2, CCL4, IL6, IL1R1
22	Tuberculosis20	8.9	TNF, IL6, IL18, MRC1, LAMP2, LAMP1
23	Hematopoietic cell lineage20	8.7	CSF1, TNF, IL6, IL1R1, CD36
24	Malaria20	8.6	THBS3, HBB, TNF, CCL2, IL6, IL18
25	NOD-like receptor signaling pathway20	8.6	TNF, HSP90AA1, CCL2, IL6, IL18
26	Rheumatoid arthritis20	8.6	CSF1, ACP5, CTSK, TNF, CCL2, IL6
27	JAK-STAT Pathway36	8.5	F2R, F2, CCL18, CCL2, CCL4, IL6
28	MIF Mediated Glucocorticoid Regulation36	8.4	CSF1, TNF, CCL18, CCL2, CCL4, IL6
29	MIF Regulation of Innate Immune Cells36	8.4	CSF1, TNF, CCL18, CCL2, CCL4, IL6
30	all-trans-Retinoic Acid Signaling in Brain36	8.4	CSF1, TNF, CCL18, CCL2, CCL4, IL6
31	PEDF Induced Signaling36	8.4	CSF1, TNF, CCL18, CCL2, CCL4, IL6
32	STAT3 Pathway36	8.3	CSF1, TNF, CCL18, CCL2, CCL4, IL6
33	PAK Pathway36	8.2	CSF1, TNF, CCL18, CCL2, CCL4, IL6
34	Cytokine-cytokine receptor interaction20	8.2	CSF1, TNFRSF11B, TNF, CCL18, CCL2, CCL4
35	Akt Signaling36	8.1	CSF1, TNF, HSP90AA1, CCL18, CCL2, CCL4
36	Antioxidant Action of Vitamin-C36	7.6	CSF1, TNF, CCL18, CCL2, CCL4, IL6
37	Metabolism of lipids and lipoproteins38	INF	GALC, GBA3, GBA, PSAP, SMPD1, GLA
38	Transcription Role of VDR in regulation of genes involved in osteoporosis10	INF	SPP1, TNFRSF11B, TNF, , IL6, BGLAP
39	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	INF	SPP1, TNFRSF11B, TNF, , IL6, BGLAP

Compounds related to gaucher's disease according to GeneDecks:

(show top 50)    (show all 286)

id	Compound	Score	Top Affiliating Genes
1	mannose 6-phosphate32 18	11.1	GUSB, ARSA, GLA, HEXA, GALC, GBA
2	glucosylceramide32 18	10.9	PSAP, CHIT1, UGCG, F5, GLA, SMPD1
3	mannose32	9.7	MOGS, MRC1, LAMP1, CHIT1, CD163, ARSA
4	glucose32	9.7	MOGS, S100B, GLA, PARK2, TCP1
5	neomycin32	9.4	HSPA4, SPP1, HBB, TKT, CSF1, GBA
6	pge232	9.1	SMPD1, SNCA, CTSB, SPP1, TNFRSF11B, HSP90AA1
7	polysaccharide32	8.6	GBA, IDUA, IL18, ARSA, MOGS, MRC1
8	hydrogen32 18	9.6	MBL2, GBA, ARSH, ARSA, IL18, CTSB
9	ascorbic acid32 18	9.4	S100B, LDLR, BGLAP, BMP4, VDR, CD36
10	chloramphenicol32 9 9	10.3	LDLR, HBB, TKT, HSPA4, CSF1, VDR
11	cysteine32	8.2	CCL4, ARSA, S100B, MTHFR, LDLR, BGLAP
12	oxygen32 18	9.2	GBA, COL2A1, F2R, ACP5, HBB, EPRS
13	neopterin32	8.1	IL1R1, CTSB, TNF, CHIT1, IL18, IL6
14	fibrinogen32	8.1	CTSB, IL1R1, TNFRSF11B, F2R, CCL2, F5
15	glutamate32	8.1	HSPA4, HSP90AA1, F2R, F9, IL1R1, MTHFR
16	adenylate32	8.0	TKT, ESR2, GBA, HSPA4, HSP90AA1, CSF1
17	iron32 18	8.5	C11orf58, HFE, ACP5, HBB, SNCA, PARK2
18	calcium32 9 18 9	10.4	CCL18, CCL4, ARSH, GUSB, CD163, CD36
19	sb 20358032 42	8.4	SNCA, SPP1, CYP1A1, TNFRSF11B, TNF, HSPA4
20	steroid32	6.9	IL18, ARSA, ARSH, S100B, F5, IL1R1
21	creatinine32	6.7	ADA, CSF1, TKT, ACPP, ACP5, ACE
22	genistein32 9 18 9	9.6	TNF, CYP1A1, SPP1, TKT, CSF1, HSPA4
23	lactate32	6.0	ADPRH, ADA, DHFR, TKT, HBB, ACPP
24	tyrosine32	5.9	SPP1, CTSK, CTSB, TNFRSF11B, SNCG, HSP90AA1
25	dexamethasone32 42 34 9 9	9.2	F9, LDLR, BGLAP, BMP4, VDR, UBC
26	retinoic acid32 42 18	7.1	CSF1, DHFR, TKT, COL2A1, CTSB, CTSK
27	nitric oxide32 9 18 9	7.7	ACP5, F5, CCL2, CCL4, MBL2, IL6
28	cycloheximide32	INF	CSF1, CCL2, CCL4, , IL6, IL1R1
29	vitamin d32	INF	VDR, BGLAP, HSP90AA1, F2R, CCL2, MBL2
30	lipid32	INF	CHIT1, SCARB2, PARK2, SEC14L2, GALC, GBA
31	indomethacin32 9 9	INF	HSPA4, CSF1, CTSB, SPP1, CYP1A1, TNFRSF11B
32	n acetylcysteine32	INF	CSF1, EPRS, SNCA, F2, IL1R1, IL18
33	alanine32	INF	ADPRH, ADA, SPP1, HSPA4, ACPP, HSP90AA1
34	tamoxifen32 34 9 9	INF	TKT, ARSH, , F5, HSP90AA1, TNFRSF11B
35	chloroquine32 34 9 9	INF	ADPRH, DHFR, IL1R1, CTSB, CTSK, CYP1A1
36	estrogen32	INF	F9, , IL18, ARSH, CD36, S100B
37	cholesterol32 9 18 9	INF	SMPD1, SNCA, CTSB, SPP1, TNFRSF11B, HSPA4
38	glutamine32	INF	EPRS, ADPRH, ADA, DHFR, TKT, HBB
39	aspartate32	INF	SMPD1, S100B, LDLR, VDR, GUSB, ARSA
40	h2o232	INF	ADA, CSF1, DHFR, ACP5, SMPD1, SNCA
41	paraffin32	INF	ACP5, F2R, TKT, ESR2, CTSB, SNCA
42	vegf32	INF	CSF1, CCL4, MBL2, , IL1R1, CD36
43	valine32	INF	ADPRH, CSF1, PSAP, DHFR, HBB, SNCA
44	arginine32	INF	SNCA, CTSB, SPP1, CYP1A1, ESR2, GLA
45	aspirin32 34 18	INF	CSF1, LDLR, VDR, MTHFR, GUSB, ACE
46	cyclosporin a32 42	INF	F2, IDUA, F9, CCL4, , IL1R1
47	serine32	INF	UGCG, PARK2, BGLAP, BMP4, VDR, SEC14L2
48	dermatan sulfate32	INF	IDUA, CD97, GUSB, , F9, CD36
49	heparin32 9 18 9	INF	IDUA, F9, CCL4, , ARSH, CD36
50	testosterone32 9 18 9	INF	SPP1, CYP1A1, TNFRSF11B, ESR2, HSPA4, HSP90AA1

Cellular components related to gaucher's disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	lysosomal lumen	GO:043202	10.2	GALC, GBA, PSAP, HEXA, SMPD1, GLA
2	lysosomal membrane	GO:005765	10.0	GBA, PSAP, ACPP, LAMP3, LAMP2, LAMP1
3	membrane-bounded vesicle	GO:031988	9.8	SPP1, BGLAP, BMP4
4	lysosome	GO:005764	9.4	CTSB, ACP5, ADA, GALC, GLA, CAT
5	perinuclear region of cytoplasm	GO:048471	8.6	THBS3, HFE, SNCA, SNCG, CTSB, SPP1
6	external side of plasma membrane	GO:009897	8.4	ADA, ACE, CTSB, TNF, CD36, LAMP1
7	extracellular region	GO:005576	INF	ESR2, GLA, F2R, F2, TNFRSF11B, SPP1
8	extracellular space	GO:005615	INF	ADA, TNF, TNFRSF11B, SPP1, CTSK, CTSB

Biological processes related to gaucher's disease according to GeneDecks:

(show all 15)

id	Name	GO ID	Score	Top Affiliating Genes
1	glycosphingolipid metabolic process	GO:006687	10.3	UGCG, GALC, GBA3, GBA, PSAP, HEXA
2	sphingolipid metabolic process	GO:006665	10.3	PSAP, GBA, GBA3, GALC, HEXA, SMPD1
3	phospholipid metabolic process	GO:006644	10.1	HEXA, PSAP, GBA, GBA3, GALC, SMPD1
4	carbohydrate metabolic process	GO:005975	10.0	GALC, GBE1, GBA3, GBA, TKT, HEXA
5	positive regulation of collagen biosynthetic process	GO:032967	9.7	F2R, F2, IL18, BMP4
6	positive regulation of blood coagulation	GO:030194	9.6	CD36, F2, F2R
7	response to mechanical stimulus	GO:009612	9.2	BMP4, BGLAP, CCL2, TNF, CTSB
8	cell adhesion	GO:007155	9.0	ADA, EMR2, SPP1, F5, CCL2, CCL4
9	defense response to Gram-positive bacterium	GO:050830	8.8	ACP5, TNF, MBL2, IL6, CD36
10	acute-phase response	GO:006953	8.8	F2, MBL2, IL6, CD163
11	platelet activation	GO:030168	8.7	PSAP, F2R, F2, F5, IL6, CD36
12	positive regulation of I-kappaB kinase/NF-kappaB cascade	GO:043123	8.3	PARK2, UBC, S100B, CD36, F2R, TNF
13	inflammatory response	GO:006954	7.9	EMR2, CSF1, SPP1, TNF, F2R, CCL18
14	negative regulation of MAP kinase activity	GO:043407	INF	GBA, SMPD1, , BMP4
15	small molecule metabolic process	GO:044281	INF	HEXA, HBB, ACP5, PKLR, SMPD1, TKT

Molecular functions related to gaucher's disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cation binding	GO:043169	10.0	CHIT1, GALC, GBE1, GBA3, GBA, HEXA
2	calcium ion binding	GO:005509	9.0	EMR2, THBS3, SNCA, F2, F9, ARSA
3	cytokine activity	GO:005125	8.0	CSF1, SPP1, TNFRSF11B, TNF, CCL4, IL6
4	tau protein binding	GO:048156	INF	SNCA, , S100B