MCID: CHR073
MIFTS: 53

Choreatic Disease

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Choreatic Disease

MalaCards integrated aliases for Choreatic Disease:

Name: Choreatic Disease 12 15 70
Chorea 12 73 53 29 6 15 39 17 70
Hereditary Chorea 12 29 70

Classifications:



External Ids:

Disease Ontology 12 DOID:12859
ICD10 32 G25.5
UMLS 70 C0008489 C0699731 C4020858

Summaries for Choreatic Disease

NINDS : 53 Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. Chorea often occurs with athetosis, which adds twisting and writhing movements. Chorea is a primary feature of Huntington's disease, a progressive, hereditary movement disorder that appears in adults, but it may also occur in a variety of other conditions. Sydenham's chorea occurs in a small percentage (20 percent) of children and adolescents as a complication of rheumatic fever. Chorea can also be induced by drugs (levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents.

MalaCards based summary : Choreatic Disease, also known as chorea, is related to huntington disease and striatal degeneration, autosomal dominant 2, and has symptoms including clonus, ataxia and tremor. An important gene associated with Choreatic Disease is FRRS1L (Ferric Chelate Reductase 1 Like), and among its related pathways/superpathways are GABAergic synapse and G alpha (s) signalling events. The drugs Tetrabenazine and Fluoxetine have been mentioned in the context of this disorder. Affiliated tissues include brain, thyroid and cortex, and related phenotypes are behavior/neurological and nervous system

Disease Ontology : 12 A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.

Wikipedia : 73 Chorea (or choreia, occasionally) is an abnormal involuntary movement disorder, one of a group of... more...

Related Diseases for Choreatic Disease

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

(show top 50) (show all 548)
# Related Disease Score Top Affiliating Genes
1 huntington disease 33.1 VPS13A PDE10A MIR9-1 JPH3 HTT
2 striatal degeneration, autosomal dominant 2 32.4 PDE10A AFG3L2
3 dentatorubral-pallidoluysian atrophy 32.3 MIR9-1 JPH3 HTT CSTB AFG3L2
4 huntington disease-like 2 32.0 VPS13A JPH3 HTT
5 paroxysmal nonkinesigenic dyskinesia 1 31.9 PRRT2 PNKD
6 familial paroxysmal nonkinesigenic dyskinesia 31.9 PRRT2 PNKD
7 movement disease 31.3 VPS13A SLC18A2 PRRT2 PNKD NKX2-1 MIR9-1
8 dystonia 31.3 VPS13A SLC18A2 RHOBTB2 PRRT2 PNKD NKX2-1
9 tic disorder 31.3 SLC18A2 PNKD GYPE
10 athetosis 31.1 PRRT2 NKX2-1
11 autosomal dominant cerebellar ataxia 30.7 MIR9-1 JPH3 HTT AFG3L2
12 lingual-facial-buccal dyskinesia 30.7 VPS13A SLC18A2 JPH3 GNAO1 DPYSL5 CSTB
13 sleep disorder 30.6 SLC9A6 SLC18A2 IGLON5
14 huntington disease-like 1 30.4 VPS13A JPH3
15 dyskinetic cerebral palsy 30.4 NKX2-1 GNAO1 ADCY5
16 toxic encephalopathy 30.1 SLC18A2 MIR9-1 HTT
17 alternating hemiplegia of childhood 30.1 RHOBTB2 PRRT2 PNKD ADCY5
18 von economo's disease 30.1 IGLON5 DPYSL5
19 hemidystonia 30.1 PNKD GYPE
20 whipple disease 30.0 IGLON5 DPYSL5
21 chorea, benign hereditary 11.8
22 choreoacanthocytosis 11.8
23 sydenham chorea 11.7
24 chorea, childhood-onset, with psychomotor retardation 11.7
25 chorea gravidarum 11.5
26 3-methylglutaconic aciduria, type iii 11.3
27 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.2
28 chorea, remitting, with nystagmus and cataract 11.2
29 pontocerebellar hypoplasia, type 2e 11.1
30 rheumatic fever 11.0
31 chorea, benign familial 11.0
32 mcleod syndrome 11.0
33 morvan's fibrillary chorea 11.0
34 episodic kinesigenic dyskinesia 1 11.0
35 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.0
36 pontocerebellar hypoplasia, type 2a 11.0
37 neurodegeneration with brain iron accumulation 3 11.0
38 spinocerebellar ataxia 17 11.0
39 aceruloplasminemia 11.0
40 rheumatic encephalitis 10.9
41 antiphospholipid syndrome 10.9
42 spinocerebellar ataxia 2 10.9
43 pontocerebellar hypoplasia, type 2b 10.9
44 pontocerebellar hypoplasia, type 2c 10.9
45 muscular dystrophy, limb-girdle, autosomal recessive 18 10.9
46 myopathy with extrapyramidal signs 10.9
47 neurodevelopmental disorder with impaired speech and hyperkinetic movements 10.9
48 huntington disease-like syndrome 10.9
49 hyperthyroidism 10.9
50 moyamoya disease 1 10.9

Graphical network of the top 20 diseases related to Choreatic Disease:



Diseases related to Choreatic Disease

Symptoms & Phenotypes for Choreatic Disease

UMLS symptoms related to Choreatic Disease:


clonus; ataxia; tremor; myoclonus; involuntary movements; dystonia; athetosis; other symptoms involving nervous and musculoskeletal systems; muscular fasciculation; spasm; synkinesis; recurrent muscle twitches (symptom)

MGI Mouse Phenotypes related to Choreatic Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.83 ADCY5 AFG3L2 CSTB DPYSL5 FRRS1L GNAO1
2 nervous system MP:0003631 9.44 AFG3L2 CSTB DPYSL5 GNAO1 HTT JPH3

Drugs & Therapeutics for Choreatic Disease

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tetrabenazine Approved, Investigational Phase 3 58-46-8 6018
2
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
3
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
4 Neurotransmitter Agents Phase 3
5 Adrenergic Agents Phase 3
6
Amantadine Approved Phase 2 768-94-5 2130
7
Citalopram Approved Phase 2 59729-33-8 2771
8
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
9
Risperidone Approved, Investigational Phase 2 106266-06-2 5073
10
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
11
Dexetimide Withdrawn Phase 2 21888-98-2
12 Anti-Infective Agents Phase 2
13 Excitatory Amino Acid Antagonists Phase 2
14 Antiparkinson Agents Phase 2
15 Antiviral Agents Phase 2
16 Analgesics Phase 2
17 Analgesics, Non-Narcotic Phase 2
18 Atomoxetine Hydrochloride Phase 2
19 Serotonin Uptake Inhibitors Phase 2
20 Antidepressive Agents Phase 2
21 Dopamine Agents Phase 2
22 Psychotropic Drugs Phase 2
23 Dopamine Antagonists Phase 2
24 Antipsychotic Agents Phase 2
25
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
26
Ursodeoxycholic acid Approved, Investigational Phase 1 128-13-2 31401
27
Tauroursodeoxycholic acid Experimental, Investigational Phase 1 14605-22-2 12443252
28
Penicillin V Approved, Vet_approved 87-08-1 6869
29
Haloperidol Approved 52-86-8 3559
30 Gastrointestinal Agents
31 Rho(D) Immune Globulin
32 Haloperidol decanoate
33 Antiemetics
34 penicillins
35 gamma-Globulins
36 Immunoglobulins, Intravenous
37 Anti-Bacterial Agents
38 Immunoglobulins
39 Antibodies
40 Immunologic Factors
41 Dopamine agonists
42 Autoantibodies

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 An Open-Label, Long Term Safety Study of SD-809 ER in Subjects With Chorea Associated With Huntington Disease Completed NCT01897896 Phase 3 SD-809
2 A Randomized Double-Blind, Placebo-Controlled Study of SD-809 Extended Release for the Treatment of Chorea Associated With Huntington Disease Completed NCT01795859 Phase 3 SD-809;Placebo
3 A Randomized, Double-Blind, Placebo-Controlled Study of Tetrabenazine for the Treatment of Huntington's Chorea Completed NCT00219804 Phase 3 tetrabenazine or placebo
4 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy, Safety, and Tolerability of Valbenazine for the Treatment of Chorea Associated With Huntington Disease Recruiting NCT04102579 Phase 3 Valbenazine;Placebo
5 Open-Label Rollover Study for Continuing Valbenazine Administration for the Treatment of Chorea Associated With Huntington Disease Enrolling by invitation NCT04400331 Phase 3 Valbenazine
6 Safety and Efficacy of Bone Marrow Derived MNCs for the Treatment of Huntingtons Chorea. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01834053 Phase 1, Phase 2
7 Phase IIa, Double-blind, Randomized, Placebo-controlled Study of the Efficacy and Safety of SOM3355 in Huntington's Disease (HD) Patients With Chorea Movements. Completed NCT03575676 Phase 2 SOM3355 100mg BID;SOM3355 200mg BID;Placebo BID
8 NMDA-Receptor Blockade in Huntington's Chorea Completed NCT00001930 Phase 2 Amantadine
9 Atomoxetine for Attention Deficits in Adults With Mild HD: A Randomized, Placebo-Controlled Crossover Study Completed NCT00368849 Phase 2 atomoxetine;Matching Placebo
10 A Randomized, Placebo-Controlled Pilot Study in Huntington's Disease (CIT-HD) Completed NCT00271596 Phase 2 20mg daily citalopram;Placebo
11 Risperidone for the Treatment of Huntington's Disease Chorea Recruiting NCT04201834 Phase 2 Risperidone
12 A Multi-centre, Randomized, Double-blind, Placebo-controlled, Parallel-group, Multiple Oral Dose Titration Proof of Concept Study in Patients With Huntington's Disease to Assess the Efficacy, Safety and Tolerability of AFQ056 in Reducing Chorea Terminated NCT01019473 Phase 2 AFQ056;Placebo
13 Ursodiol in Huntington's Disease Unknown status NCT00514774 Phase 1 ursodiol;placebo
14 The Effects of Music Therapy on Depression, Chorea and Other Symptoms of Huntington's Disease Completed NCT00178360 Phase 1
15 Exploring Hypertonia in Children With Cerebral Palsy- a Population-based Approach. Unknown status NCT01744158
16 Wearable Sensors for Quantitative Assessment of Motor Impairment in Huntington's Disease Unknown status NCT03599076
17 Intravenous Immunoglobulins as Effective Treatment in Sydenham's Chorea Completed NCT00615797 standard interventions penicillin VK and haloperidol
18 Characterization of Cardiac and Skeletal Myopathy, Risk Evaluation, and Phenotype-Genotype Correlation in Patients With Neuroacanthocytosis Completed NCT00007228
19 Compassionate Use of Tetrabenazine in the Treatment of Hyperkinesias Available NCT00642057 tetrabenazine
20 Sydenham's Chorea: Is There a Link Between Neuropsychiatric Symptoms and Anti-dopamine Receptor Autoantibodies? Enrolling by invitation NCT04084977
21 Deep Brain Stimulation Treatment for Chorea in Huntington's Disease Not yet recruiting NCT04244513

Search NIH Clinical Center for Choreatic Disease

Genetic Tests for Choreatic Disease

Genetic tests related to Choreatic Disease:

# Genetic test Affiliating Genes
1 Chorea 29
2 Hereditary Chorea 29

Anatomical Context for Choreatic Disease

MalaCards organs/tissues related to Choreatic Disease:

40
Brain, Thyroid, Cortex, Globus Pallidus, Lung, Eye, Heart

Publications for Choreatic Disease

Articles related to Choreatic Disease:

(show top 50) (show all 5768)
# Title Authors PMID Year
1
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 6
32219868 2020
2
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
3
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 6
27236917 2016
4
A sydenham chorea attack associated with COVID-19 infection. 61
33615279 2021
5
Anti-CRMP5 paraneoplastic chorea: selective external capsule MRI involvement resolving after tumour resection. 61
33047200 2021
6
Emerging concepts on bradykinesia in non-parkinsonian conditions. 61
33793037 2021
7
Clinical development of valbenazine for tics associated with Tourette syndrome. 61
33682568 2021
8
On the hunt for a cure: A guide to Huntington disease. 61
33735136 2021
9
Electroconvulsive therapy for severe depression, psychosis and chorea in a patient with Huntington's disease: case report and review of the literature. 61
32513333 2021
10
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease. 61
33495376 2021
11
Non-Criteria Manifestations of Juvenile Antiphospholipid Syndrome. 61
33802787 2021
12
A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients. 61
33578253 2021
13
Faciobrachial Myoclonus as the Presenting Manifestation of Diabetic Keto-Acidosis. 61
33717645 2021
14
Movement disorders in primary central nervous system lymphoma: two unreported cases and a review of literature. 61
33443666 2021
15
Steroid-Responsive Acute Left-Arm Chorea as a Presenting Symptom of Moyamoya Disease. 61
32684192 2021
16
Late-onset chorea after cerebral revascularization as a clinical manifestation of moyamoya disease. 61
33751259 2021
17
Polycythemia vera complicated by chorea: A case report and the review of Chinese and international literature. 61
33781561 2021
18
Chorea as a Presentation of SARS-CoV-2 Encephalitis: A Clinical Case Report. 61
33706477 2021
19
Acute chorea in adults: old and new truths. 61
33729327 2021
20
Acute chorea: case series from the emergency room of a Brazilian tertiary-level center. 61
33729326 2021
21
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype. 61
33200438 2021
22
Crystallographic Modeling of the PNPT1:c.1453A>G Variant as a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features. 61
33812062 2021
23
Worldwide barriers to genetic testing for movement disorders. 61
33730413 2021
24
Diagnostic approach to paediatric movement disorders: a clinical practice guide. 61
33150968 2021
25
Risk factors and prognosis of adult-onset post-pump chorea. 61
33516056 2021
26
Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2. 61
32980194 2021
27
Improvement in mild anti-IgLON5 encephalopathy without immunotherapy: a case report. 61
33731000 2021
28
A novel therapeutic approach using the Zipper method to treat chorea in a pediatric-onset systemic lupus erythematosus patient. 61
33413004 2021
29
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea. 61
33666368 2021
30
Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability. 61
33704598 2021
31
Pimozide and pancreatic cancer in diabetic chorea: a case report. 61
33491547 2021
32
Chorea as a paraneoplastic syndrome heralding the transformation of non-Hodgkin lymphoma. 61
33438759 2021
33
Rational approaches for the design of various GABA modulators and their clinical progression. 61
32170466 2021
34
Inflammation, Obsessive-Compulsive Disorder, and Related Disorders. 61
33624254 2021
35
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement. 61
33652783 2021
36
Amantadine: reappraisal of the timeless diamond-target updates and novel therapeutic potentials. 61
33624170 2021
37
A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants. 61
33211350 2021
38
Transient bilateral chorea secondary to digoxin toxicity in a female with acute kidney injury: a case report. 61
33569535 2021
39
Movement Disorder in Wilson Disease: Correlation with MRI and Biomarkers of Cell Injury. 61
32662046 2021
40
Diabetic Chorea: A Rare Complication of Poorly Controlled Diabetes Mellitus. 61
33645206 2021
41
Clinical variables that help in predicting the presence of autoantibodies in patients with acute encephalitis. 61
33658153 2021
42
Estimation of a preliminary therapeutic reference range for children and adolescents with tic disorders treated with tiapride. 61
32986159 2021
43
Phosphine modification of proline-glycine-proline tripeptide and study of its neuroprotective properties. 61
33412416 2021
44
Does pallidal neuromodulation influence cognitive decline in Huntington's disease? 61
32886253 2021
45
State-of-the-art pharmacological approaches to reduce chorea in Huntington's disease. 61
33550875 2021
46
Benign Presentation Following Massive Deutetrabenazine Overdose. 61
33633914 2021
47
"Neuroacanthocytosis" - Overdue for a Taxonomic Update. 61
33510935 2021
48
Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A. 61
33679298 2021
49
A case of hemichorea in RNF213-related vasculopathy. 61
33482763 2021
50
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency. 61
33506479 2021

Variations for Choreatic Disease

ClinVar genetic disease variations for Choreatic Disease:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE2A NM_002599.5(PDE2A):c.1180C>T (p.Gln394Ter) SNV Pathogenic 689477 rs1591023585 GRCh37: 11:72297116-72297116
GRCh38: 11:72586072-72586072
2 RHOBTB2 NM_001160036.2(RHOBTB2):c.1532G>A (p.Arg511Gln) SNV Pathogenic 545418 rs1554504684 GRCh37: 8:22865224-22865224
GRCh38: 8:23007711-23007711
3 AFG3L2 NM_006796.3(AFG3L2):c.1385C>T SNV Pathogenic 973107 rs912546325 GRCh37: 18:12351346-12351346
GRCh38: 18:12351347-12351347
4 FRRS1L NM_014334.3(FRRS1L):c.845G>A (p.Trp282Ter) SNV Pathogenic 218152 rs878853281 GRCh37: 9:111903640-111903640
GRCh38: 9:109141360-109141360
5 FRRS1L NM_014334.3(FRRS1L):c.737_739del (p.Gly246del) Deletion Pathogenic 218153 rs878853282 GRCh37: 9:111903746-111903748
GRCh38: 9:109141466-109141468
6 FRRS1L NM_014334.3(FRRS1L):c.436dup (p.Ile146fs) Duplication Pathogenic 218154 rs878853283 GRCh37: 9:111911955-111911956
GRCh38: 9:109149675-109149676
7 FRRS1L NM_014334.3(FRRS1L):c.961C>T (p.Gln321Ter) SNV Pathogenic 218151 rs878853280 GRCh37: 9:111899809-111899809
GRCh38: 9:109137529-109137529
8 CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic 8395 rs147484110 GRCh37: 21:45194641-45194641
GRCh38: 21:43774760-43774760
9 GNAO1 NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) SNV Likely pathogenic 420523 rs1064794533 GRCh37: 16:56370758-56370758
GRCh38: 16:56336846-56336846
10 GNAO1 NM_020988.3(GNAO1):c.545C>T (p.Thr182Ile) SNV Likely pathogenic 812779 rs1596871452 GRCh37: 16:56368721-56368721
GRCh38: 16:56334809-56334809
11 SLC9A6 NM_006359.3(SLC9A6):c.1632-19_1632-3del Deletion Likely pathogenic 598968 rs1569525894 GRCh37: X:135122214-135122230
GRCh38: X:136040055-136040071
12 CASR NM_000388.4(CASR):c.1609-27C>T SNV Uncertain significance 598997 rs4678175 GRCh37: 3:122000933-122000933
GRCh38: 3:122282086-122282086
13 TRH NM_007117.5(TRH):c.25G>A (p.Ala9Thr) SNV Uncertain significance 598998 rs772388530 GRCh37: 3:129694684-129694684
GRCh38: 3:129975841-129975841
14 DNMT1 NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile) SNV Uncertain significance 599001 rs1202584286 GRCh37: 19:10251813-10251813
GRCh38: 19:10141137-10141137
15 PCDH19 NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) SNV Uncertain significance 159556 rs376390125 GRCh37: X:99657779-99657779
GRCh38: X:100402781-100402781
16 RTN4IP1 NM_032730.5(RTN4IP1):c.263T>G (p.Val88Gly) SNV Uncertain significance 916015 GRCh37: 6:107076634-107076634
GRCh38: 6:106628759-106628759
17 overlap with 3 genes Deletion Uncertain significance 916131 GRCh37:
GRCh38: 6:106539151-106629957
18 CACNA1A NM_001127222.2(CACNA1A):c.2393A>T (p.Asp798Val) SNV Uncertain significance 397544 rs1060499675 GRCh37: 19:13410054-13410054
GRCh38: 19:13299240-13299240
19 DNMT1 NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu) SNV Uncertain significance 373927 rs1057518774 GRCh37: 19:10259562-10259562
GRCh38: 19:10148886-10148886

Expression for Choreatic Disease

Search GEO for disease gene expression data for Choreatic Disease.

Pathways for Choreatic Disease

Pathways related to Choreatic Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.77 PDE2A PDE10A GNAO1 ADCY5
2 11.5 PDE2A PDE10A ADCY5
3 10.86 SLC18A2 GNAO1 ADCY5

GO Terms for Choreatic Disease

Biological processes related to Choreatic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cAMP-mediated signaling GO:0043951 9.32 PDE2A PDE10A
2 neuromuscular process controlling posture GO:0050884 9.26 PRRT2 PNKD
3 negative regulation of cGMP-mediated signaling GO:0010754 9.16 PDE2A PDE10A
4 locomotory behavior GO:0007626 9.02 VPS13A SLC18A2 NKX2-1 GNAO1 ADCY5
5 cGMP catabolic process GO:0046069 8.96 PDE2A PDE10A

Molecular functions related to Choreatic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.32 PDE2A PDE10A
2 cAMP binding GO:0030552 9.26 PDE2A PDE10A
3 cGMP binding GO:0030553 9.16 PDE2A PDE10A
4 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 8.96 PDE2A PDE10A
5 cGMP-stimulated cyclic-nucleotide phosphodiesterase activity GO:0004118 8.62 PDE2A PDE10A

Sources for Choreatic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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