Machado-joseph Disease malady

MalaCards: Machado-joseph Disease, also known as azorean disease (disorder), is related to spinocerebellar ataxia type 3 and olivopontocerebellar atrophy. An important gene associated with Machado-joseph Disease is ATXN3 (ataxin 3), and among its related pathways are Regulation of degradation of wt-CFTR and Regulation of degradation of deltaF508 CFTR in CF. The compounds retinoid and levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and b cells, and related mouse phenotypes are endocrine/exocrine gland and taste/olfaction.

Aliases & Descriptions:

machado-joseph disease 6 7 43 azorean disease (disorder) 6

Diseases related to machado-joseph disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 207)

id	Related Disease	Score	Top Affiliating Genes
1	spinocerebellar ataxia type 3	35.9	CHERP, UBC, ATXN3, ATXN1, HSPB1
2	olivopontocerebellar atrophy	31.8	ATXN3, ATXN2
3	autonomic dysfunction	31.4	ATXN3, ATXN2, SNCA, RPS27A
4	cerebellar degeneration	31.0	BLZF1, ATXN2, CACNA1A, SLC1A3
5	dentatorubral-pallidoluysian atrophy	30.9	ATXN2, ATN1, HTT, CACNA1A, RPS27A, SLC1A3
6	cerebellar ataxia	29.7	ATXN8, ATXN3, ATXN2, ATXN1, ATN1, ATXN7
7	myotonic dystrophy	29.1	S100B, ATXN3, ATXN1, AR, APOE, ENO2
8	ataxia	27.6	RAD23B, BLZF1, BECN1, CHERP, UBC, ATXN3L
9	dementia	23.7	VCP, PARK2, S100B, ATXN3, ATXN2, ATXN1
10	neuronitis	20.9	VCP, RAD23B, BLZF1, BECN1, PARK2, CHERP
11	early-onset ataxia with oculomotor apraxia and hypoalbuminemia	13.6	HTT, SLC6A3
12	huntington disease-like	13.6	ATN1, HTT, TBP
13	alexander disease	13.6	HSPB1, RPS27A
14	infantile onset spinocerebellar ataxia	13.6	ATXN8, ATXN8OS
15	rem sleep behavior disorder	13.5	SNCA, RPS27A, SLC6A3
16	dysphagia	13.5	ATXN3, ATXN1, RPS27A
17	striatonigral degeneration	13.5	SNCA, RPS27A, SLC6A3
18	ophthalmoplegia	13.5	ATXN3, ATXN2, ATXN1, ATXN7
19	neuronal intranuclear inclusion disease	13.4	ATXN3, ATXN1, SNCA, RPS27A
20	generalized anxiety disorder	13.4	HTR1A, TSPO
21	kennedy's disease	13.4	AR, HTT
22	spinocerebellar ataxia type 6	13.3	BLZF1, CACNA1A
23	parametritis	13.3	HTR1A, TSPO, SLC6A3
24	friedreich ataxia	13.3	ATXN3, ATXN2, ATXN8OS, ATXN1, CACNA1A
25	alternating hemiplegia of childhood	13.3	CACNA1A, SLC1A3
26	spinocerebellar degeneration	13.3	CHERP, ATXN3, ATXN2, ATXN1, CACNA1A, RPS27A
27	myofibrillar myopathy	13.3	BLZF1, HSPB2, RPS27A
28	prion disease	13.2	ENO2, TSPO
29	motor neuronopathy	13.2	AR, HSPB1, CREBBP
30	chorea	13.2	ATN1, HTT, RPS27A, TARDBP
31	premature ejaculation	13.2	HTR1A, HTR3A, SLC6A3
32	inclusion body myopathy	13.2	VCP, SNCA, RPS27A, TARDBP
33	borderline personality disorder	13.2	HTR1A, HTR3A, SLC6A3
34	sepiapterin reductase deficiency	13.2	PARK2, ATXN3, SLC6A3
35	paget's disease of bone	13.2	VCP, HSPB1, HSPB2, SNCA, RPS27A
36	frontotemporal lobar degeneration with ubiquitin-positive inclusions	13.2	RPS27A, TARDBP
37	amyotrophic lateral sclerosis with frontotemporal dementia	13.2	RPS27A, TARDBP
38	personality disorder	13.2	HTR1A, HTR3A, SLC6A3
39	eating disorder	13.2	HTR1A, HTR3A, SLC6A3
40	hereditary ataxia	13.1	CHERP, ATXN3, ATXN2, ATXN1, ATXN7, CACNA1A
41	corticobasal degeneration	13.1	HSPB2, SNCA, RPS27A, TARDBP
42	spinal-bulbar muscular atrophy	13.1	CHERP, ATXN3, ATXN1, AR, HTT
43	retinal degeneration	13.1	ATN1, ATXN7, TBP, CREBBP, SLC1A3
44	congenital epulis	13.1	S100B, ENO2
45	meningeal melanocytoma	13.1	S100B, ENO2
46	cocaine abuse	13.0	HTR3A, SNCA, SLC6A3
47	spinocerebellar ataxia type 7	13.0	CHERP, ATXN3, ATXN2, ATXN1, ATN1, ATXN7
48	status epilepticus	13.0	ATN1, ENO2, CACNA1A, TSPO
49	tauopathy	13.0	PARK2, HTT, SNCA, RPS27A
50	essential tremor	13.0	PARK2, ATXN2, SNCA, SLC6A3

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to machado-joseph disease:

²²

MGI Mouse Phenotypes related to machado-joseph disease:

²⁵ (show all 14)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	9.8	HTT, ATN1, ATXN2, RAD23B
2	taste/olfaction phenotype	MP:0005394	9.8	SLC6A3, SNCA, HTT, ENO2
3	reproductive system phenotype	MP:0005389	9.1	SLC6A3, SNCA, CACNA1A, HTT, ATXN7, ATN1
4	no phenotypic analysis	MP:0003012	8.8	SLC1A3, TARDBP, SNCA, TBP, CACNA1A, HTT
5	skeleton phenotype	MP:0005390	8.3	CREBBP, SNCA, SP1, HSPB2, HTT, AR
6	adipose tissue phenotype	MP:0005375	7.9	CREBBP, HSPB2, APOE, AR, ATXN2, RAD23B
7	muscle phenotype	MP:0005369	7.5	SLC6A3, CREBBP, CACNA1A, HSPB2, APOE, AR
8	nervous system phenotype	MP:0003631	7.1	HTT, HSPB2, CACNA1A, SNCA, CREBBP, SLC6A3
9	integument phenotype	MP:0010771	6.2	CACNA1A, SP1, SNCA, CREBBP, SLC6A3, HTT
10	cellular phenotype	MP:0005384	5.6	CACNA1A, SNCA, CREBBP, TARDBP, SLC6A3, SLC1A3
11	homeostasis/metabolism phenotype	MP:0005376	5.4	CACNA1A, TBP, SP1, SNCA, CREBBP, TARDBP
12	behavior/neurological phenotype	MP:0005386	5.4	VCP, HTR3A, HTT, HSPB2, CACNA1A, SNCA
13	growth/size phenotype	MP:0005378	5.0	HTT, HSPB2, CACNA1A, TBP, SP1, SNCA
14	mortality/aging	MP:0010768	4.7	HTR3A, HTT, HSPB2, CACNA1A, TBP, SP1

Articles related to machado-joseph disease:

(show top 50)    (show all 72)

id	Title	Authors	Year	Affiliating Genes
1	Machado-Joseph disease/spinocerebellar ataxia type 3. (21827905)	Paulson H.	2012	ATXN3
2	The APOE I/2 allele increases the risk of earlier age at onset in Machado-Joseph disease. (22159055)	Bettencourt C.... Lima M.	2011	APOE
3	Motor uncoordination and neuropathology in a transgen ic mouse model of Machado-Joseph disease lacking intranuclear inclusions and at axin-3 cleavage products. (20510362)	Silva-Fernandes A.... Maciel P.	2010	ATXN3
4	Caring for Machado-Joseph disease: current understand ing and how to help patients. (19811945)	D'Abreu A.... Lopes-Cendes I.	2010	ATXN3
5	Silencing ataxin-3 mitigates degeneration in a rat mo del of Machado-Joseph disease: no role for wild-type ataxin-3? (20308049)	Alves S.... de Almeida L.P.	2010	ATXN3
6	Decreased protein synthesis of Hsp27 associated with cellular toxicity in a cell model of Machado-Joseph disease. (19429074)	Chang W.H.... Hsieh M.	2009	HSPB1, ATXN3, HSPB2
7	Machado-Joseph disease/SCA3 and myotonic dystrophy ty pe 1 in a single patient. (19713033)	Miura S.... Taniwaki T.	2009	ATXN3
8	Decreased antioxidant enzyme activity and increased m itochondrial DNA damage in cellular models of Machado-Joseph disease. (19185026)	Yu Y.C.... Hsieh M.	2009	ATXN3
9	Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal). (18286225)	Bettencourt C.... Lima M.	2008	ATXN3
10	Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease. (18385100)	Alves S.... de Almeida L.P.	2008	ATXN3
11	Brainstem in Machado-Joseph disease: atrophy or small size? (18042234)	Horimoto Y.... Mitake S.	2008	ATXN3
12	Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease (19065526)	Jia D.... Tang B.	2008	ATXN3
13	Machado-Joseph disease enhances genetic fitness: a comparison between affected and unaffected women and between MJD and the general population. (17683516)	Prestes P.R.... Jardim L.B.	2008	ATXN3
14	Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. (17948873)	Martins S.... Amorim A.	2008	ATXN3
15	Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3. (17234717)	Rodrigues A.J.... Maciel P.	2007	ATXN3
16	Clinical and molecular events in patients with Machado-Joseph disease under lamotrigine therapy. (15876340)	Liu C.S.... Hsieh M.	2005	ATXN3
17	S100B and NSE serum concentrations in Machado Joseph disease. (15563883)	Tort A.B.... Jardim L.B.	2005	S100B, ENO2
18	The pathogenesis of Machado Joseph Disease: a high manganese/low magnesium initiated CAG expansion mutation in susceptible genotypes? (15637221)	Purdey M.	2004	ATXN3
19	Magnetic resonance imaging demonstrates differential atrophy of pontine base and tegmentum in Machado-Joseph disease. (14568127)	Yoshizawa T.... Shoji S.	2003	ATXN3
20	Prenatal diagnosis of Machado-Joseph disease/Spinocerebellar Ataxia Type 3 in Taiwan: early detection of expanded ataxin-3. (12938149)	Tsai H.F.... Hsieh M.	2003	ATXN3
21	Beneficial effects of tandospirone on ataxia of a patient with Machado-Joseph disease. (11952922)	Takei A.... Tashiro K.	2002	HTR3A, HTR1A
22	Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. (12042281)	Pan H.... Hsiao K.M.	2002	AR
23	Attenuated nuclear shrinkage in neurons with nuclear aggregates--a morphometric study on pontine neurons of Machado-Joseph disease brains. (12460614)	Uchihara T.... Yagishita S.	2002	ATXN3
24	Chemical chaperones reduce aggregate formation and cell death caused by the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch. (12127147)	Yoshida H.... Kanazawa I.	2002	ATXN3
25	Dementia and delirium in 4 patients with Machado-Joseph disease. (12433269)	Ishikawa A.... Tsuji S.	2002	ATXN3
26	Differential susceptibility of cultured cell lines to aggregate formation and cell death produced by the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch. (11719271)	Yoshizawa T.... Shoji S.	2001	ATXN3
27	The genomic structure and expression of MJD, the Machado-Joseph disease gene. (11450850)	Ichikawa Y.... Kanazawa I.	2001	ATXN3, ATXN3L
28	A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. (11697524)	Jardim L.B.... Giugliani R.	2001	ATXN7, ATXN8OS
29	Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. (11133357)	Gaspar C.... Rouleau G.A.	2001	ATXN3
30	Cerebellar degeneration in hereditary dentatorubral-pallidoluysian atrophy and Machado-Joseph disease. (10651027)	Kumada S.... Oda M.	2000	SLC1A3
31	Decreased dopamine transporter binding in Machado-Joseph disease. (10855623)	Yen T.C.... Ting G.	2000	SLC6A3, ATXN3
32	Cell cycle arrest enhances the in vitro cellular toxicity of the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch. (10587580)	Yoshizawa T.... Kanazawa I.	2000	ATXN3
33	Insertion of expanded CAG trinucleotide repeat motifs into a yeast artificial chromosome containing the human Machado-Joseph disease gene. (10433966)	Cemal C.K.... Chamberlain S.	1999	ATXN3
34	Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract. (10196697)	Maciel P.... Rouleau G.A.	1999	ATXN3
35	Machado-Joseph disease in three Scandinavian families. (9588850)	LA... rensen S.A.	1998	ATXN3
36	Decreased benzodiazepine receptor binding in Machado- Joseph disease. (9744334)	Ishibashi M.... Hayabuchi N.	1998	TSPO
37	Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family. (9562258)	Takiyama Y.... Nishizawa M.	1998	ATXN3
38	Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease. (9450899)	Cancel G.... Brice A.	1998	ATXN3
39	Machado-Joseph disease in four Chinese pedigrees: molecular analysis of 15 patients including two juvenile cases and clinical correlations. (9040742)	Zhou Y.X.... Tsuji S.	1997	ATXN3
40	Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. (9124802)	Paulson H.L.... Pittman R.N.	1997	ATXN3, BLZF1
41	Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds. (9124801)	Soong B.... Shan D.	1997	ATXN3
42	Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene. (9270607)	Takiyama Y.... Nishizawa M.	1997	ATXN3
43	Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats. (9132496)	Rubinsztein D.C.... Leggo J.	1997	ATXN3
44	Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. (8640226)	Ikeda H.... Kakizuka A.	1996	ATXN3
45	Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals. (8957019)	Nishiyama K.... Kanazawa I.	1996	ATXN3
46	Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. (7633439)	Maruyama H.... Nishio T.	1995	ATXN3
47	Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease. (8558567)	Stevanin G.... Brice A.	1995	ATXN3
48	CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. (7874163)	Kawaguchi Y.... Kakizuka A.	1994	ATXN3
49	Glutamate dehydrogenase deficiency in Machado-Joseph disease. (8334577)	Goncalves A.... Cunha L.	1993	GLUD2
50	The gene for Machado-Joseph disease maps to human chromosome 14q. (8358439)	Takiyama Y.... Ohta S.	1993	ATXN3

Genes related to machado-joseph disease according to GeneCards:

(show all 37)

id	Symbol	Description	Score	GeneCards Section Context
1	ATXN3	ataxin 3	11.2	Orthologs, Publications, Aliases & Descriptions, Summaries
2	ATXN3L	ataxin 3-like	11.1	Publications, Orthologs, Summaries, Aliases & Descriptions
3	CHERP	calcium homeostasis endoplasmic reticulum protein	11.0	Publications
4	ATXN7	ataxin 7	11.0	Publications
5	VCP	valosin containing protein	11.0
6	ATN1	atrophin 1	11.0
7	RPS27A	ribosomal protein S27a	11.0	Publications
8	HSPB1	heat shock 27kDa protein 1	11.0	Publications
9	CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	11.0	Publications
10	HTR1A	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	11.0	Publications
11	TBP	TATA box binding protein	11.0
12	SLC6A3	solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	11.0	Publications
13	HTT	huntingtin	11.0
14	ATXN2	ataxin 2	11.0
15	ATXN1	ataxin 1	11.0
16	CREBBP	CREB binding protein	11.0
17	SP1	Sp1 transcription factor	11.0
18	SNCA	synuclein, alpha (non A4 component of amyloid precursor)	11.0
19	ATXN8	ataxin 8	11.0	Publications
20	ATXN8OS	ATXN8 opposite strand (non-protein coding)	11.0	Publications
21	GLUD2	glutamate dehydrogenase 2	11.0	Publications
22	AGAP3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	11.0	Proteins
23	HSPB2	heat shock 27kDa protein 2	11.0	Publications
24	BECN1	beclin 1, autophagy related	11.0	Publications
25	MARCH5	membrane-associated ring finger (C3HC4) 5	11.0	Disorders
26	BLZF1	basic leucine zipper nuclear factor 1	11.0	Publications
27	SLC1A3	solute carrier family 1 (glial high affinity glutamate transporter), member 3	11.0	Publications
28	TARDBP	TAR DNA binding protein	11.0	Publications
29	TSPO	translocator protein (18kDa)	11.0	Publications
30	RAD23B	RAD23 homolog B (S. cerevisiae)	11.0
31	ENO2	enolase 2 (gamma, neuronal)	11.0	Publications
32	UBC	ubiquitin C	11.0	Publications
33	S100B	S100 calcium binding protein B	11.0	Publications
34	AR	androgen receptor	11.0	Publications
35	HTR3A	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	11.0	Publications
36	APOE	apolipoprotein E	11.0	Publications
37	PARK2	parkinson protein 2, E3 ubiquitin protein ligase (parkin)	11.0	Publications

Pathways related to machado-joseph disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Regulation of degradation of wt-CFTR41	9.8	VCP, UBC, ATXN3
2	Regulation of degradation of deltaF508 CFTR in CF41	9.8	HSPB1, ATXN3, UBC, VCP
3	Androgen Signaling36	9.4	CREBBP, TBP, CACNA1A, AR
4	Parkinsons Disease Pathway36	9.3	SLC6A3, SNCA, UBC, PARK2
5	Protein processing in endoplasmic reticulum20	9.3	VCP, RAD23B, PARK2, ATXN3L, ATXN3
6	Proteolysis_Putative ubiquitin pathway41	9.1	PARK2, UBC, ATXN3
7	Neuroscience3	8.0	PARK2, SLC1A3, TARDBP, SNCA, HTT, HTR1A

Compounds related to machado-joseph disease according to GeneDecks:

(show top 50)    (show all 124)

id	Compound	Score	Top Affiliating Genes
1	retinoid32	10.5	SP1, CREBBP
2	levodopa32 9 9	12.3	HTR1A, SLC6A3, RPS27A, SNCA
3	lysine32	10.2	CACNA1A, PARK2
4	carbon-1132	10.1	SLC6A3, TSPO, HTR1A
5	threonine32	10.0	CACNA1A, PARK2
6	abecarnil32	9.8	TSPO, HTR3A, HTR1A
7	thioflavine s32	9.7	APOE, SNCA, RPS27A
8	clomipramine32 34 9 9	12.6	SLC6A3, TSPO, HTR3A, HTR1A
9	fluvoxamine32 34 9 9	12.6	TSPO, SLC6A3, HTR3A, HTR1A
10	polyacrylamide32	9.6	HSPB2, CREBBP, HSPB1, ATXN7, ATXN2, ATXN3
11	rotenone32	9.5	PARK2, SNCA, RPS27A, TSPO, SLC6A3
12	mptp32	9.5	RPS27A, PARK2, SLC6A3, TSPO, SNCA
13	geldanamycin32 9 9	11.4	SNCA, AR, PARK2, HTT, HSPB1
14	arsenite32 18	10.3	TSPO, RPS27A, BECN1, HSPB1, HSPB2, SP1
15	rapamycin32 42	10.3	AR, HTT, HSPB1, SP1, SNCA, RPS27A
16	dbc-amp32	9.2	SLC1A3, S100B, CREBBP, HSPB1, ENO2
17	formaldehyde32 18	10.2	TBP, SP1, ENO2, S100B, RPS27A, BLZF1
18	formate32	9.1	RPS27A, APOE, HTT, SNCA
19	edss32	9.0	ENO2, APOE, S100B
20	mg 13232 42	10.0	RPS27A, BLZF1, AR, HSPB1, SNCA, PARK2
21	sodium dodecylsulfate32	8.9	RPS27A, TBP, HSPB1, APOE, AR, SNCA
22	glutamate32	8.8	SNCA, BLZF1, AR, CACNA1A, HTT, GLUD2
23	spec-t32	8.8	TSPO, SLC6A3, APOE, ENO2
24	oxygen32 18	9.7	CREBBP, BLZF1, TBP, PARK2, HTT, HSPB1
25	alanine32	8.7	TBP, SLC1A3, CREBBP, BLZF1, PARK2, S100B
26	etoposide32 42 9 9	11.6	SP1, CREBBP, TSPO, HSPB1, ENO2, AR
27	lactacystin32	8.5	APOE, PARK2, HSPB1, SNCA, AR, RPS27A
28	cisplatin32 34 9 9	11.5	BLZF1, RPS27A, HSPB2, ENO2, CREBBP, TBP
29	gaba32 42	9.5	HTR3A, SLC1A3, SLC6A3, TSPO, ENO2, S100B
30	iron32 18	9.3	HTT, TBP, BLZF1, PARK2, HSPB2, S100B
31	superoxide32 18	9.3	SLC1A3, TARDBP, CREBBP, ENO2, VCP, BLZF1
32	valine32	8.3	S100B, SLC6A3, TSPO, AR, RPS27A, APOE
33	norepinephrine32 9 18 9	11.2	HTR3A, ENO2, HTR1A, SNCA, TSPO, SLC6A3
34	guanine32 9 18 9	11.1	PARK2, AR, APOE, ENO2, HTR1A, TBP
35	atp32	8.0	HSPB1, CREBBP, HTT, RPS27A, ENO2, S100B
36	creatinine32	7.9	HSPB2, RPS27A, HSPB1, TSPO, ENO2, HTT
37	aspartate32	7.7	AR, SLC1A3, ENO2, APOE, HSPB1, GLUD2
38	adenylate32	7.6	S100B, ENO2, HTR1A, HTR3A, SP1, SNCA
39	steroid32	7.5	TBP, HSPB1, SP1, S100B, TSPO, PARK2
40	h2o232	7.4	SLC6A3, AR, TSPO, PARK2, APOE, HSPB1
41	nmda32 42	8.4	HTT, HTR1A, ENO2, PARK2, SP1, CREBBP
42	arginine32	7.3	TSPO, SLC6A3, RPS27A, CREBBP, SNCA, HSPB2
43	vegf32	7.2	PARK2, AR, S100B, APOE, HSPB1, HSPB2
44	cysteine32	7.1	SNCA, SP1, PARK2, ATXN3, ATN1, APOE
45	acetylcholine32 9 18 9	9.9	SP1, HSPB2, TSPO, SLC6A3, CACNA1A, RPS27A
46	dopamine32 9 18 9	9.9	SP1, ENO2, PARK2, S100B, SLC6A3, RPS27A
47	estrogen32	6.8	SP1, RPS27A, TBP, TSPO, AR, CREBBP
48	testosterone32 9 18 9	9.3	ATXN3, SP1, HTT, ENO2, APOE, PARK2
49	serine32	6.1	HSPB2, SLC1A3, VCP, BLZF1, BECN1, PARK2
50	glutamine32	4.6	ATN1, TSPO, RPS27A, CREBBP, SP1, TBP

Cellular components related to machado-joseph disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	fibril	GO:043205	10.0	SNCA, SLC1A3
2	nuclear matrix	GO:016363	9.9	ATXN7, ATN1, ATXN1, ATXN3
3	axon	GO:030424	8.9	SLC6A3, SNCA, HTT, HTR3A, AR
4	nucleoplasm	GO:005654	8.3	RPS27A, CREBBP, SP1, TBP, AR, ATXN1
5	neuronal cell body	GO:043025	7.8	S100B, APOE, HTR3A, SLC6A3, SLC1A3
6	nucleus	GO:005634	6.0	AR, HTT, HSPB1, HSPB2, CACNA1A, SP1
7	cytoplasm	GO:005737	4.2	VCP, HTT, HSPB1, HSPB2, CACNA1A, GLUD2

Biological processes related to machado-joseph disease according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	aggresome assembly	GO:070842	9.8	VCP, PARK2
2	regulation of transcription from RNA polymerase II promoter in response to hypoxia	GO:061418	9.8	UBC, CREBBP, RPS27A
3	L-glutamate import	GO:051938	9.7	HTT, SLC1A3
4	cellular response to stress	GO:033554	9.7	UBC, CREBBP, RPS27A
5	negative regulation of neuron apoptotic process	GO:043524	9.6	SNCA, CACNA1A, HTT, PARK2
6	protein polyubiquitination	GO:000209	9.2	RPS27A, MARCH5, UBC, PARK2
7	transcription initiation from RNA polymerase II promoter	GO:006367	9.1	RPS27A, CREBBP, SP1, TBP, AR, UBC
8	anti-apoptosis	GO:006916	8.6	RPS27A, SNCA, HSPB1, HTT, APOE, UBC
9	cell death	GO:008219	7.2	PARK2, SLC6A3, TARDBP, TBP, CACNA1A, HSPB1

Molecular functions related to machado-joseph disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	androgen binding	GO:005497	9.6	AR, TSPO
2	tau protein binding	GO:048156	8.7	SNCA, APOE, S100B
3	protein binding	GO:005515	4.2	VCP, HTT, HSPB1, HSPB2, CACNA1A, TBP