MCID: BSL008
MIFTS: 40

Basal Ganglia Disease malady

Categories: Neuronal diseases

Aliases & Classifications for Basal Ganglia Disease

Aliases & Descriptions for Basal Ganglia Disease:

Name: Basal Ganglia Disease 12 29 14
Basal Ganglia Diseases 42 69
Basal Ganglia Disorders 52

Classifications:



External Ids:

Disease Ontology 12 DOID:679
MeSH 42 D001480
SNOMED-CT 64 70835005
UMLS 69 C0004782

Summaries for Basal Ganglia Disease

MalaCards based summary : Basal Ganglia Disease, also known as basal ganglia diseases, is related to biotin-thiamine-responsive basal ganglia disease and dandy-walker malformation with intellectual disability, basal ganglia disease and seizures. An important gene associated with Basal Ganglia Disease is SLC19A3 (Solute Carrier Family 19 Member 3). The drugs Dopamine and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 71 Basal ganglia disease is a group of physical dysfunctions that occur when the group of nuclei in the... more...

Related Diseases for Basal Ganglia Disease

Diseases related to Basal Ganglia Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
id Related Disease Score Top Affiliating Genes
1 biotin-thiamine-responsive basal ganglia disease 12.5
2 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.2
3 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.0
4 mental retardation, x-linked syndromic 5 11.7
5 waisman syndrome 11.5
6 thiamine metabolism dysfunction syndrome 2 11.4
7 neurodegeneration with brain iron accumulation 3 11.4
8 thiamine-responsive megaloblastic anemia syndrome 10.9
9 dementia, frontotemporal 10.9
10 basal ganglia calcification 10.9
11 protein r deficiency 10.3 GRN MAPT
12 social emotional agnosia 10.2 GRN PSEN1 TARDBP
13 color agnosia 10.2 GRN PSEN1 TARDBP
14 mcleod neuroacanthocytosis syndrome 10.2 MAPT PSEN1
15 gata1-related thrombocytopenia 10.2 GRN MAPT PSEN1
16 hereditary paraganglioma-pheochromocytoma syndromes 10.2 GRN MAPT PSEN1
17 autoimmune disease of blood 10.2 GRN PSEN1 TARDBP
18 osteogenesis imperfecta, type vi 10.2 C9orf72 FUS TARDBP
19 cerebral arteritis 10.2 FUS PSEN1 TARDBP
20 myoclonic cerebellar dyssynergia 10.2 FUS TARDBP
21 systemic lupus erythematous, association with 6 10.2 FUS TARDBP
22 hypoproteinemia, hypercatabolic 10.2 C9orf72 MAPT TARDBP
23 mitochondrial dna depletion syndrome 3 10.1 C9orf72 GRN MAPT TARDBP
24 pancreatitis 10.1 GRN PSEN1
25 sting-associated vasculopathy, infantile-onset 10.1 C9orf72 FUS TARDBP VCP
26 associative agnosia 10.1 ADAMTS2 GRN
27 chorioamnionitis 10.1 C9orf72 TARDBP UBQLN2
28 encephalitozoonosis 10.1 CBS GRN PSEN1
29 hyperglycemia 10.1 CBS GRN PSEN1
30 pericardial tuberculosis 10.0 TARDBP VCP
31 cogan-reese syndrome 10.0 FUS TARDBP UBQLN2 VCP
32 pediatric mesenchymal chondrosarcoma 10.0 CBS GRN PSEN1 TARDBP
33 substance-induced psychosis 10.0 C9orf72 GRN MAPT PSEN1 TARDBP
34 meier-gorlin syndrome 5 10.0 CBS GRN MAPT
35 autotopagnosia 10.0 C9orf72 CBS GRN MAPT
36 personality disorder 10.0 ADAMTS2 GRN MAPT PSEN1
37 adrenal cortical adenoma 10.0 SQSTM1 TARDBP VCP
38 acrofrontofacionasal dysostosis 9.9 CBS GRN MAPT PSEN1 TARDBP
39 coenzyme q10 deficiency, primary, 1 9.9 ADAMTS2 GRN MAPT PSEN1 TARDBP
40 autoimmune disease of urogenital tract 9.9 C9orf72 GRN MAPT PSEN1 SLC20A2 TARDBP
41 acne inversa, familial, 3 9.9 MAPT PSEN1 SQSTM1 TARDBP
42 angina pectoris 9.8 C9orf72 CBS GRN MAPT PSEN1 TARDBP
43 allergic bronchopulmonary aspergillosis, familial 9.8 MAPT SQSTM1 TARDBP VCP
44 dystonia 9.8
45 postauricular lymphadenitis 9.8 CBS FUS GRN MAPT PSEN1 TARDBP
46 severe congenital nemaline myopathy 9.8 C9orf72 CHMP2B GRN MAPT PSEN1 TARDBP
47 hereditary ataxia 9.7
48 ataxia 9.7
49 mucopolysaccharidosis iv 9.7 C9orf72 GRN MAPT SQSTM1 TARDBP VCP
50 leigh syndrome 9.7

Graphical network of the top 20 diseases related to Basal Ganglia Disease:



Diseases related to Basal Ganglia Disease

Symptoms & Phenotypes for Basal Ganglia Disease

MGI Mouse Phenotypes related to Basal Ganglia Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ADORA2A AP1S2 C9orf72 GRN MAPT PSEN1
2 growth/size/body region MP:0005378 10.07 ADORA2A AP1S2 C9orf72 MAPT PSEN1 SLC19A3
3 immune system MP:0005387 9.9 ADORA2A C9orf72 GRN MAPT PSEN1 SLC19A3
4 adipose tissue MP:0005375 9.85 AP1S2 C9orf72 SLC20A2 SQSTM1 TARDBP TMEM106B
5 nervous system MP:0003631 9.73 GRN MAPT PSEN1 SLC20A2 SLC5A6 SQSTM1
6 skeleton MP:0005390 9.28 ADAMTS2 C9orf72 PSEN1 SLC20A2 SLC5A6 SQSTM1

Drugs & Therapeutics for Basal Ganglia Disease

Drugs for Basal Ganglia Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 548)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
2
Clonidine Approved Phase 4,Phase 2 4205-90-7 2803
3
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59-92-7 6047
4
Nicotine Approved Phase 4,Phase 2,Phase 1 54-11-5 942 89594
5
Donepezil Approved Phase 4,Phase 3,Phase 2,Phase 1 120014-06-4 3152
6
Galantamine Approved Phase 4,Phase 3 357-70-0 9651 908828, 9651
7
Rivastigmine Approved, Investigational Phase 4,Phase 3,Phase 2 123441-03-2 77991
8
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
9
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
10 Piracetam Approved Phase 4,Phase 2 7491-74-9
11
Rasagiline Approved Phase 4,Phase 2,Phase 3,Phase 1 136236-51-6 3052776
12
Bromocriptine Approved, Investigational Phase 4,Phase 3,Phase 2 25614-03-3 31101
13
Apomorphine Approved, Investigational Phase 4,Phase 3,Phase 2 41372-20-7, 58-00-4 6005
14
Risperidone Approved, Investigational Phase 4,Phase 2 106266-06-2 5073
15
Zonisamide Approved, Investigational Phase 4,Phase 2,Phase 3 68291-97-4 5734
16
Pramipexole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 104632-26-0 59868 119570
17
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
18
Entacapone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 130929-57-6 5281081
19
Carbidopa Approved Phase 4,Phase 3,Phase 2,Phase 1 28860-95-9 34359 38101
20
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 91374-20-8, 91374-21-9 5095 497540
21
Amantadine Approved Phase 4,Phase 3,Phase 2,Phase 1 768-94-5 2130
22
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
23
Varenicline Approved, Investigational Phase 4,Phase 2 249296-44-4 5310966
24
Modafinil Approved, Investigational Phase 4,Phase 2,Early Phase 1 68693-11-8 4236
25
Armodafinil Approved, Investigational Phase 4,Phase 2,Early Phase 1 112111-43-0
26
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
27
Zinc Approved Phase 4,Phase 3,Phase 2 7440-66-6 32051 23994
28
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 26757 5195
29
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
30
Cabergoline Approved Phase 4,Phase 3 81409-90-7 54746
31
Guanfacine Approved, Investigational Phase 4,Phase 3 29110-47-2 3519
32
Methylphenidate Approved, Investigational Phase 4,Phase 2,Early Phase 1 113-45-1 4158
33
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2,Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
34
Riluzole Approved, Investigational Phase 4,Phase 3,Phase 2 1744-22-5 5070
35
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
36
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
37
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 2 16590-41-3 5360515
38
Tetrabenazine Approved Phase 4,Phase 3,Phase 2 58-46-8 6018
39
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 23651-95-8 443940
40
Trimethobenzamide Approved Phase 4,Phase 1 138-56-7 5577
41
Infliximab Approved Phase 4 170277-31-3
42
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
43
Suvorexant Approved Phase 4 1030377-33-3
44
Fesoterodine Approved Phase 4 286930-02-7, 286930-03-8 6918558
45
Mirabegron Approved Phase 4 223673-61-8
46
Penicillamine Approved Phase 4 52-67-5 5852 4727
47
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 73-31-4 896
48
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 2 67-97-0 6221 10883523 5280795
49
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2 50-14-6 5280793
50
Iodine Phase 4,Phase 2 7553-56-2 807

Interventional clinical trials:

(show top 50) (show all 2181)
id Name Status NCT ID Phase
1 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4
2 Controlled Trial of Deep Brain Stimulation in Early Patients With Parkinson's Disease Unknown status NCT00354133 Phase 4
3 Study of Memantine to Treat Huntington's Disease Unknown status NCT00652457 Phase 4
4 The Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4
5 Effect of Deep Brain Stimulation on Gait of Patients With Parkinson's Disease Depending on Electrode Location in Subthalamic Area Unknown status NCT01782638 Phase 4
6 Evaluation of the Efficacy of Rasagiline in Apathy in Drug-naïve Patients With Parkinson's Disease by a Multi-center Study Unknown status NCT01765257 Phase 4
7 Nicotine Treatment of Impulsivity in Parkinson's Disease Unknown status NCT01216904 Phase 4
8 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease Unknown status NCT00696215 Phase 4
9 Pramipexole and Bromocriptine on Nonmotor Symptoms of Early Parkinson's Disease Unknown status NCT01673724 Phase 4
10 Emotion, Mood and Executive Function in Parkinson`s Disease (PD) Unknown status NCT01385735 Phase 4
11 Botulinum A Toxin in Patients With Parkinson's Disease Unknown status NCT00822913 Phase 4
12 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4
13 Study to Observe the Effect of Mirapex ER® Once-daily (QD) Versus Twice-daily (BID) Unknown status NCT01515774 Phase 4
14 A Study Assessing Change in Sense of Smell After Rasagiline Use in Parkinson's Patients Unknown status NCT01007630 Phase 4
15 Role of Dopamine on Loss Aversion Behaviour: Study on Parkinsonian Patients Unknown status NCT01780467 Phase 4
16 Cognitive Decline in Non-demented PD Unknown status NCT01340885 Phase 4
17 The Effect of IV Amantadine on Freezing of Gait (FOG) Resistant to Dopaminergic Therapy Unknown status NCT01313819 Phase 4
18 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4
19 Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson's Disease Completed NCT01662414 Phase 4
20 Study for Rasagiline Effect on Sleep Trial(REST)in Parkinson's Disease Completed NCT01032486 Phase 4
21 Effects of Carbidopa/Levodopa/Entacapone on Motor Function and Quality of Life in Patients With Parkinson's Disease Completed NCT00219284 Phase 4
22 Trial to Evaluate The Efficacy Of Rotigotine on Parkinson's Disease-Associated Motor Symptoms And Apathy Completed NCT01782222 Phase 4
23 Efficacy of Levodopa/Carbidopa/Entacapone vs Levodopa/Carbidopa in Parkinson's Disease Patients With Early Wearing-off Completed NCT00391898 Phase 4
24 Parallel-Group Study to Assess the Effect of Rasagiline on Cognition in Patients With Parkinson's Disease Completed NCT01723228 Phase 4
25 Mild Cognitive Impairment in Parkinson's Disease Completed NCT01519271 Phase 4
26 Rasagiline as Add on to Dopamine Agonists in the Treatment of Parkinson's Disease Completed NCT01049984 Phase 4
27 Impact of Xenazine(Tetrabenazine)on Gait and Functional Activity in Individuals With Huntington's Disease Completed NCT01451463 Phase 4
28 A Fixed Dose, Dose Response Study for Ropinirole Prolonged Release in Patients With Early Stage Parkinson's Disease Completed NCT01485172 Phase 4
29 Donepezil to Treat Dementia in Parkinson's Disease Completed NCT00030979 Phase 4
30 Study of (Mirapex) Pramipexole for the Early Treatment of Parkinsons Disease (PD) Completed NCT00321854 Phase 4
31 Duodenal Levodopa Infusion, Quality of Life and Autonomic Nervous System in Parkinson's Disease Completed NCT00914134 Phase 4
32 Dopamine Turnover Rate as Surrogate Parameter for Diagnosis of Early Parkinson's Disease Completed NCT00153972 Phase 4
33 Rotigotine Versus Placebo to Evaluate the Efficacy on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4
34 Namenda (Memantine) for Non-Motor Symptoms in Parkinson's Disease Completed NCT00646204 Phase 4
35 Study to Compare the Effect of Treatment With Carbidopa/Levodopa/Entacapone on the Quality of Life of Patients With Parkinson's Disease. This Study is Not Recruiting in the United States Completed NCT00143026 Phase 4
36 Rasagiline for the Symptomatic Treatment of Fatigue in Parkinson's Disease Completed NCT01168596 Phase 4
37 Placebo-controlled Study in Patients With Parkinson's Disease to Evaluate the Effect of Rotigotine on Non-motor Symptoms Completed NCT01300819 Phase 4
38 Virtual Exercises in Patients With Parkinson's Disease. Completed NCT02023034 Phase 4
39 Amitiza in Constipation Associated With PD (Parkinson's Disease) Completed NCT00908076 Phase 4
40 Continuous Delivery of Levodopa in Patients With Advanced Idiopathic Parkinsons Disease - Cost-benefit Completed NCT00272688 Phase 4
41 Tolerability and Efficacy of Switch From Oral Selegiline to Orally Disintegrating Selegiline (Zelapar) in Patients With Parkinson's Disease Completed NCT00640159 Phase 4
42 Aripiprazole in Patients With Psychosis Associated With Parkinson's Disease Completed NCT00095810 Phase 4
43 Rasagiline and Apathy in Parkinson's Disease Completed NCT00755027 Phase 4
44 Solifenacin Succinate (VESIcare) for the Treatment of Overactive Bladder in Parkinson's Disease Completed NCT01018264 Phase 4
45 Efficacy of Orally Disintegrating Selegiline in Parkinson's Patients Experiencing Adverse Effects With Dopamine Agonists Completed NCT00443872 Phase 4
46 Study to Evaluate the Efficacy of Rotigotine on Parkinson's Disease-Associated Pain Completed NCT01744496 Phase 4
47 Effect of Intravenous Amantadine on Gait Freezing in Parkinson's Disease Completed NCT01313845 Phase 4
48 A Randomized, Double-blind, Active (Pramipexole 0.5 mg Tid) and Placebo Controlled, Study of Pramipexole Given 0.5 mg and 0.75 mg Bid Over 12-week Treatment in Early Parkinson's Disease (PD) Patients Completed NCT00402233 Phase 4
49 Olfaction in Patients With Parkinson's Disease Following Treatment With Rasagiline Completed NCT00902941 Phase 4
50 Methylphenidate for the Treatment of Gait Impairment in Parkinson's Disease Completed NCT00526630 Phase 4

Search NIH Clinical Center for Basal Ganglia Disease

Cochrane evidence based reviews: basal ganglia diseases

Genetic Tests for Basal Ganglia Disease

Genetic tests related to Basal Ganglia Disease:

id Genetic test Affiliating Genes
1 Abnormality of the Basal Ganglia 29

Anatomical Context for Basal Ganglia Disease

MalaCards organs/tissues related to Basal Ganglia Disease:

39
Brain

Publications for Basal Ganglia Disease

Articles related to Basal Ganglia Disease:

(show all 40)
id Title Authors Year
1
Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment. ( 27905264 )
2017
2
Depression in adult patients with biotin responsive basal ganglia disease. ( 27534451 )
2016
3
Teaching NeuroImages: Biotin-responsive basal ganglia disease. ( 27164647 )
2016
4
Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment. ( 26880816 )
2016
5
Biotin and Thiamine Responsive Basal Ganglia Disease - A vital differential diagnosis in infants with severe encephalopathy. ( 26975589 )
2016
6
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? ( 27749535 )
2016
7
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism. ( 27841215 )
2016
8
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. ( 25876998 )
2015
9
Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease. ( 25914216 )
2015
10
Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone. ( 26095097 )
2015
11
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. ( 27896110 )
2014
12
Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment. ( 24812013 )
2014
13
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. ( 23269594 )
2013
14
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. ( 23360564 )
2013
15
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome. ( 24166474 )
2013
16
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. ( 23742248 )
2013
17
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). ( 23756445 )
2013
18
Stress Induced Up-Regulation of Slc19a3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease. ( 24372704 )
2013
19
Response inhibition subprocesses and dopaminergic pathways: basal ganglia disease effects. ( 19782093 )
2010
20
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. ( 20065143 )
2010
21
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. ( 19491117 )
2009
22
Biotin-responsive basal ganglia disease: case report and review of the literature. ( 19294600 )
2008
23
Stiff person syndrome (SPS), a basal ganglia disease? Striatal MRI lesions in a patient with SPS. ( 17507452 )
2007
24
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. ( 16790503 )
2006
25
Depth perception in cerebellar and basal ganglia disease. ( 16733701 )
2006
26
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. ( 15871139 )
2005
27
Athymhormia and disorders of motivation in Basal Ganglia disease. ( 15616180 )
2004
28
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. ( 11438811 )
2001
29
Biotin-responsive basal ganglia disease: a novel entity. ( 9679779 )
1998
30
Basal ganglia disease and visuospatial cognition: Are there disease-specific impairments? ( 24486746 )
1997
31
Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease. ( 7561937 )
1995
32
Biotin-Thiamine-Responsive Basal Ganglia Disease ( 24260777 )
1993
33
Clinical features of neuroleptic malignant syndrome in basal ganglia disease. Spontaneous presentation in a patient with Hallervorden-Spatz disease in the absence of neuroleptic drugs. ( 8322990 )
1993
34
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. ( 2018058 )
1991
35
Psychiatric consequences of basal ganglia disease. ( 2259804 )
1990
36
Technetium-99m HMPAO imaging in patients with basal ganglia disease. ( 2973362 )
1988
37
Ventricular somatostatin-like immunoreactivity in patients with basal ganglia disease. ( 2864402 )
1985
38
Motor disorders in basal ganglia disease. ( 6715209 )
1984
39
Basal ganglia disease. ( 6128460 )
1982
40
Paresis of vertical gaze in basal ganglia disease. ( 4538012 )
1972

Variations for Basal Ganglia Disease

ClinVar genetic disease variations for Basal Ganglia Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DNAH7 NM_018897.2(DNAH7): c.10753T> C (p.Phe3585Leu) single nucleotide variant Pathogenic rs1057519439 GRCh37 Chromosome 2, 196651859: 196651859

Expression for Basal Ganglia Disease

Search GEO for disease gene expression data for Basal Ganglia Disease.

Pathways for Basal Ganglia Disease

GO Terms for Basal Ganglia Disease

Cellular components related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.8 AP1S2 C9orf72 PSEN1 SQSTM1 UBQLN2
2 endosome GO:0005768 9.77 C9orf72 CHMP2B GRN SQSTM1 TMEM106B
3 azurophil granule lumen GO:0035578 9.43 FTL GRN VCP
4 axolemma GO:0030673 9.32 ADORA2A MAPT
5 autolysosome GO:0044754 9.16 FTL SQSTM1
6 autophagosome GO:0005776 9.13 C9orf72 SQSTM1 UBQLN2
7 lysosome GO:0005764 9.02 C9orf72 CHMP2B GRN SQSTM1 TMEM106B

Biological processes related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.1 C9orf72 CHMP2B PSEN1 SQSTM1 UBQLN2 VCP
2 astrocyte activation GO:0048143 8.96 ADORA2A MAPT

Molecular functions related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.23 ADORA2A CBS FTL FUS MAPT SQSTM1

Sources for Basal Ganglia Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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