Aliases & Classifications for Ataxia Neuropathy Spectrum

MalaCards integrated aliases for Ataxia Neuropathy Spectrum:

Name: Ataxia Neuropathy Spectrum 25 73
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 73
Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia 25
Mitochondrial Recessive Ataxia Syndrome 25
Ataxia Neuropathy Spectrum Disorders 6
the Ataxia Neuropathy Spectrum 37
Sando 25
Miras 25
Ans 25

Classifications:



External Ids:

KEGG 37 H01384

Summaries for Ataxia Neuropathy Spectrum

Genetics Home Reference : 25 Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).

MalaCards based summary : Ataxia Neuropathy Spectrum, also known as sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, is related to chronic progressive external ophthalmoplegia and mitochondrial dna depletion syndrome 4a, and has symptoms including ophthalmoplegia An important gene associated with Ataxia Neuropathy Spectrum is TWNK (Twinkle MtDNA Helicase), and among its related pathways/superpathways is Organelle biogenesis and maintenance. The drugs Acetaminophen and Acyclovir have been mentioned in the context of this disorder. Affiliated tissues include breast, brain and prostate.

Related Diseases for Ataxia Neuropathy Spectrum

Diseases related to Ataxia Neuropathy Spectrum via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 547)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 31.2 POLG TWNK
2 mitochondrial dna depletion syndrome 4a 30.4 POLG TWNK
3 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 30.1 MRPL43 POLG TWNK
4 mitochondrial dna depletion syndrome 7 30.0 MRPL43 TWNK
5 perrault syndrome 29.7 MRPL43 TWNK
6 neuropathy 28.6 POLG TWNK
7 hair-an syndrome 12.2
8 hemophagocytic syndrome associated with an infection 12.0
9 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.0
10 silver-russell syndrome due to an imprinting defect of 11p15 11.9
11 sickle cell disease associated with an other hemoglobin anomaly 11.9
12 aniridia 1 11.5
13 acanthosis nigricans 11.5
14 anorexia nervosa 11.4
15 acute necrotizing encephalopathy 11.4
16 encephalopathy, acute, infection-induced 4 11.3
17 schizophrenia 1 11.3
18 schizophrenia 11.3
19 polydactyly, preaxial iii 11.3
20 alopecia, neurologic defects, and endocrinopathy syndrome 11.1
21 schizophrenia 7 11.1
22 schizophrenia 8 11.1
23 schizophrenia 3 11.1
24 schizophrenia 19 10.9
25 schizophrenia 15 10.9
26 schizophrenia 18 10.9
27 aneurysm 10.8
28 schizophrenia 5 10.8
29 immunodeficiency due to a classical component pathway complement deficiency 10.8
30 bile duct cystadenocarcinoma 10.8
31 schizophrenia 9 10.8
32 morel's ear 10.8
33 blood group--ahonen 10.8
34 breast cancer 10.7
35 leukemia 10.7
36 rheumatoid arthritis 10.7
37 hepatitis 10.7
38 prostate cancer 10.6
39 meningitis 10.6
40 aortic aneurysm 10.6
41 asthma 10.6
42 multiple sclerosis 10.6
43 pneumonia 10.6
44 arthritis 10.6
45 atrial fibrillation 10.6
46 ovarian cancer 10.6
47 cerebritis 10.6
48 hemophilia 10.6
49 aging 10.6
50 lung cancer 10.6

Graphical network of the top 20 diseases related to Ataxia Neuropathy Spectrum:



Diseases related to Ataxia Neuropathy Spectrum

Symptoms & Phenotypes for Ataxia Neuropathy Spectrum

UMLS symptoms related to Ataxia Neuropathy Spectrum:


ophthalmoplegia

Drugs & Therapeutics for Ataxia Neuropathy Spectrum

Drugs for Ataxia Neuropathy Spectrum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 158)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4,Not Applicable 103-90-2 1983
2
Acyclovir Approved Phase 4 59277-89-3 2022
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
4
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
5 Micronutrients Phase 4,Phase 3
6 Trace Elements Phase 4,Phase 3
7 Vitamins Phase 4,Phase 3,Not Applicable
8 Anti-Infective Agents Phase 4,Not Applicable
9 Antiviral Agents Phase 4,Not Applicable
10 Analgesics Phase 4,Not Applicable
11 Adjuvants, Immunologic Phase 4
12 Analgesics, Non-Narcotic Phase 4,Not Applicable
13 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
14 Ergocalciferols Phase 4
15 Antipyretics Phase 4,Not Applicable
16 Bone Density Conservation Agents Phase 4,Phase 3
17 Broncho-Vaxom Phase 4
18 valacyclovir Phase 4
19 Central Nervous System Depressants Phase 4,Phase 2,Not Applicable
20 Ophthalmic Solutions Phase 4
21 Pharmaceutical Solutions Phase 4,Not Applicable
22 Vitamin D2 Nutraceutical Phase 4
23 Calciferol Nutraceutical Phase 4
24
Paclitaxel Approved, Vet_approved Phase 3,Not Applicable 33069-62-4 36314
25
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
26 Mirabegron Approved Phase 3 223673-61-8 9865528
27
Hydrocortisone Approved, Vet_approved Phase 3,Not Applicable 50-23-7 5754
28
Calcium Carbonate Approved, Investigational Phase 3 471-34-1
29
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
30
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
31 Orange Approved, Nutraceutical Phase 3
32
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 6221 5280795
33
Lactitol Investigational Phase 3 585-86-4 3871
34
Butyric Acid Experimental, Investigational Phase 3,Not Applicable 107-92-6 264
35 Serotonin Agents Phase 3,Not Applicable
36 Serotonin Uptake Inhibitors Phase 3,Not Applicable
37 Neurotransmitter Agents Phase 3,Phase 2,Not Applicable
38 Hematinics Phase 3
39 Neurotransmitter Uptake Inhibitors Phase 3,Not Applicable
40 Cytochrome P-450 Enzyme Inhibitors Phase 3,Not Applicable
41 Vitamin B Complex Phase 3
42 Antidepressive Agents Phase 3,Phase 2,Not Applicable
43 Antidepressive Agents, Second-Generation Phase 3,Phase 2,Not Applicable
44 Psychotropic Drugs Phase 3,Phase 2,Not Applicable
45 Adrenergic Agents Phase 3
46 Adrenergic Agonists Phase 3
47 Adrenergic beta-3 Receptor Agonists Phase 3
48 Adrenergic beta-Agonists Phase 3
49 Cholinergic Agents Phase 3,Not Applicable
50 Albumin-Bound Paclitaxel Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 97)
# Name Status NCT ID Phase Drugs
1 Early Albumin Resuscitation During Septic Shock Completed NCT00327704 Phase 4 albumin;saline
2 Effect of Vitamin D Supplementation on Fasting Glucose and Interleukin-10 (IL-10) in Arab Women With Impaired Fasting Glucose Completed NCT00877123 Phase 4 Oral vitamin D 100,000 IU;Placebo
3 Advanced Immunological Approach in COPD Exacerbation Completed NCT02417649 Phase 4
4 Glanatec(R) for Descemet Stripping in Fuch's Endothelial Dystrophy Recruiting NCT03249337 Phase 4 Ripasudil hydrochloride hydrate 0.4% ophthalmic solution
5 Zoster Eye Disease Study Recruiting NCT03134196 Phase 4 Masked Placebo;Masked Oral Valacyclovir
6 Treatment of Chronic Pain From Osteoarthritis Withdrawn NCT02032927 Phase 4 Codeine/paracetamol;Oxycodone/naloxone
7 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
8 Beneficial Impact of Orange Juice Consumption on Risk Factors Associated With Cardiovascular Diseases Unknown status NCT02479568 Phase 3
9 The Assessment of Preoperative Psychological Intervention on Stress in Women With Gynecological Malignancies Unknown status NCT00726635 Phase 3
10 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3 DDP733
11 Patency and Safety of the Drug Eluting Covered Biliary Stent Comparing to the Common Covered Biliary Stent Completed NCT01512563 Phase 3
12 Add-on Mirabegron in Pediatric Patients With Refractory Overactive Bladder Completed NCT02476175 Phase 3 Mirabegron
13 Immunogenicity and Safety of an Adjuvanted Inactivated Subunit Influenza Vaccine to Those of a Non-adjuvanted Inactivated Subunit Influenza Vaccine, When Administered to Adults Affected by Chronic Diseases Completed NCT00519064 Phase 3
14 Immunogenicity and Safety of Meningococcal ACWY Conjugate Vaccine in Healthy Children, Adolescents and Adults in Russia Completed NCT01725217 Phase 3
15 Efficacy/Safety Study of Brisdelle™ (Formerly Known as Mesafem) in the Treatment of Vasomotor Symptoms (VMS) Completed NCT01361308 Phase 3 Brisdelle (paroxetine mesylate);Placebo capsules
16 A Long-term Safety Study of Intranasal Esketamine in Treatment-resistant Depression Recruiting NCT02782104 Phase 3 Intranasal Esketamine
17 Community-Acquired Pneumonia : Evaluation of Corticosteroids Recruiting NCT02517489 Phase 3 Hydrocortisone;Placebo
18 Phase 2/3, Randomized, Double-Masked, Sham-Controlled Trial of QPI-1007 in Subjects With Acute Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT02341560 Phase 2, Phase 3 QPI-1007 Injection - 1.5 mg;QPI-1007 Injection - 3.0 mg
19 Non-inferiority of Lower Dose Calcium Supplementation During Pregnancy Not yet recruiting NCT03350516 Phase 3
20 Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using Rheopheresis Suspended NCT00460967 Phase 3
21 Efficacy and Safety of the Paclitaxel Eluting Covered Biliary Stent to the Common Covered Metallic Biliary Stent Terminated NCT01413386 Phase 3
22 Influence of Cincalcet on Cognitive Functions in Healthy Human Subjects Completed NCT01599962 Phase 2 Cinacalcet;Placebo
23 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
24 Study of CTS-1027 in Hepatitis C Patients Completed NCT00570336 Phase 2 CTS-1027
25 Immunogenicity, Tolerability and Safety of One or Two Doses of an Adjuvanted Swine-origin A H1N1 Influenza Vaccine in Healthy Subjects 18 or More Years of Age Both Vaccinated and Not Yet Vaccinated Against Seasonal Influenza 2009/10 Completed NCT00992212 Phase 2
26 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
27 Efficacy Study of VA106483 in Males With Nocturia. Completed NCT01038843 Phase 2 VA106483
28 A Phase 2 Study of Cyclo-Z in Subjects With Type 2 Diabetes Recruiting NCT03560271 Phase 2 Cyclo-Z
29 QUILT-2.023: A Study of ALT-803, a Fusion Protein Activator of Natural Killer and T-Cells, in Combination With Pembrolizumab vs Pembrolizumab Alone as First-Line Treatment for Patients With Metastatic NSCLC. Recruiting NCT03520686 Phase 2 ALT-803 + Pembrolizumab;Pembrolizumab
30 Combination Therapy With Pembrolizumab and sEphB4-HSA in Previously Treated Urothelial Carcinoma Recruiting NCT02717156 Phase 2
31 QUILT-3.055: A Study of ALT-803 in Combination With Pembrolizumab or Nivolumab in Patients With Advanced or Metastatic Non-Small Cell Lung Cancer Recruiting NCT03228667 Phase 2 ALT-803 + Pembrolizumab;ALT-803 + Nivolumab
32 Effect of Levosulpiride on Retinal Alterations in Patients With Diabetic Retinopathy and Diabetic Macular Edema Recruiting NCT03161652 Phase 2 DME lactose pill;DME levosulpiride;DR lactose pill;DR levosulpiride;DR vitrectomy lactose pill;DR vitrectomy levosulpiride;DME plus ranibizumab lactose pill;DME plus ranibizumab levosulpiride
33 Influence of Nevirapine on HCV Viral Load Unknown status NCT01277627 Not Applicable Nevirapine;efavirenz, protease inhibitors
34 Long-Term Efficacy in AMD of Rheopheresis in North America Unknown status NCT00380172 Not Applicable
35 Diffuse Noxious Inhibitory Controls (DNIC): Nociceptive Modulation and Interaction With Neurocognitive Performance in Chronic Pain Unknown status NCT01172795
36 Pain Inhibition in Patients With Rheumatoid Arthritis and Central Sensitivity Syndromes Unknown status NCT01154647 Not Applicable citalopram;1 ml 0.9 % NaCl
37 Evaluation of Safety and Efficacy of TriPollar Device for Treatment of Wrinkles Unknown status NCT01858415 Not Applicable
38 Comparison of Drug Eluting Stent and Covered Metal Stent in Malignant Biliary Obstruction (MIRA III) Completed NCT02460432 Not Applicable
39 Mussels, Inflammation and Rheumatoid Arthritis (MIRA) Completed NCT02522052 Not Applicable
40 Muscle Lipid and Insulin Resistance in the Elderly Completed NCT00765505 Not Applicable
41 Patient Activation Intervention in Improving Screening Rates for Colorectal Cancer Completed NCT01801059 Not Applicable
42 mHealth Intervention in Increasing HPV Vaccinations in College Students Completed NCT02960100 Not Applicable
43 Apps to Reduce the Impact That Adverse Events Among Health Professionals Completed NCT02410408 Not Applicable
44 A Spanish Pillbox App for Elderly Patients Taking Multiple Medications Completed NCT02071498 Not Applicable
45 Epidemiological Study of the Prevalence of Age-Related Macular Degeneration in Portugal Completed NCT01298674
46 Plaque Formation Rate and Toothpaste Completed NCT02697539 Not Applicable
47 Preemptive Analgesia Using Intravenous Paracetamol Completed NCT02884921 Not Applicable Paracetamol;Paracetamol;Placebo
48 A Study of the Efficacy of the Code Stroke in Spain Completed NCT02647957 Not Applicable
49 Evaluation of Safety and Efficacy of the 3F Applicator (A3F) for Treatment of Facial Wrinkles Completed NCT01566396 Not Applicable
50 Streptococcus Dentisani Colonization Capacity in a Split Mouth Model Completed NCT03522363 Not Applicable

Search NIH Clinical Center for Ataxia Neuropathy Spectrum

Genetic Tests for Ataxia Neuropathy Spectrum

Anatomical Context for Ataxia Neuropathy Spectrum

MalaCards organs/tissues related to Ataxia Neuropathy Spectrum:

41
Breast, Brain, Prostate, Endothelial, Bone, Testes, T Cells

Publications for Ataxia Neuropathy Spectrum

Articles related to Ataxia Neuropathy Spectrum:

# Title Authors Year
1
Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. ( 26755490 )
2016
2
Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. ( 22805437 )
2012

Variations for Ataxia Neuropathy Spectrum

ClinVar genetic disease variations for Ataxia Neuropathy Spectrum:

6
(show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh37 Chromosome 10, 102749139: 102749139
2 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh38 Chromosome 10, 100989382: 100989382
3 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh38 Chromosome 10, 100990973: 100990973
4 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh37 Chromosome 10, 102750730: 102750730
5 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh38 Chromosome 10, 100993430: 100993430
6 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh37 Chromosome 10, 102753187: 102753187
7 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh38 Chromosome 10, 100993500: 100993500
8 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh37 Chromosome 10, 102753257: 102753257
9 TWNK NM_021830.4(TWNK): c.2050A> C (p.Lys684Gln) single nucleotide variant Likely benign rs369223258 GRCh37 Chromosome 10, 102753262: 102753262
10 TWNK NM_021830.4(TWNK): c.2050A> C (p.Lys684Gln) single nucleotide variant Likely benign rs369223258 GRCh38 Chromosome 10, 100993505: 100993505
11 TWNK NM_021830.4(TWNK): c.384C> T (p.Ser128=) single nucleotide variant Uncertain significance rs148234280 GRCh37 Chromosome 10, 102748351: 102748351
12 TWNK NM_021830.4(TWNK): c.384C> T (p.Ser128=) single nucleotide variant Uncertain significance rs148234280 GRCh38 Chromosome 10, 100988594: 100988594
13 TWNK NM_021830.4(TWNK): c.-650A> G single nucleotide variant Likely benign rs187213541 GRCh37 Chromosome 10, 102747318: 102747318
14 TWNK NM_021830.4(TWNK): c.-650A> G single nucleotide variant Likely benign rs187213541 GRCh38 Chromosome 10, 100987561: 100987561
15 TWNK NM_021830.4(TWNK): c.-423C> T single nucleotide variant Uncertain significance rs886046627 GRCh37 Chromosome 10, 102747545: 102747545
16 TWNK NM_021830.4(TWNK): c.-423C> T single nucleotide variant Uncertain significance rs886046627 GRCh38 Chromosome 10, 100987788: 100987788
17 TWNK NM_021830.4(TWNK): c.-304_-303delGT deletion Likely benign rs886046628 GRCh37 Chromosome 10, 102747664: 102747665
18 TWNK NM_021830.4(TWNK): c.-304_-303delGT deletion Likely benign rs886046628 GRCh38 Chromosome 10, 100987907: 100987908
19 TWNK NM_021830.4(TWNK): c.-241C> T single nucleotide variant Likely benign rs113159821 GRCh37 Chromosome 10, 102747727: 102747727
20 TWNK NM_021830.4(TWNK): c.-241C> T single nucleotide variant Likely benign rs113159821 GRCh38 Chromosome 10, 100987970: 100987970
21 TWNK NM_021830.4(TWNK): c.-105T> C single nucleotide variant Uncertain significance rs886046629 GRCh37 Chromosome 10, 102747863: 102747863
22 TWNK NM_021830.4(TWNK): c.-105T> C single nucleotide variant Uncertain significance rs886046629 GRCh38 Chromosome 10, 100988106: 100988106
23 TWNK NM_021830.4(TWNK): c.274G> A (p.Gly92Ser) single nucleotide variant Uncertain significance rs886046630 GRCh37 Chromosome 10, 102748241: 102748241
24 TWNK NM_021830.4(TWNK): c.274G> A (p.Gly92Ser) single nucleotide variant Uncertain significance rs886046630 GRCh38 Chromosome 10, 100988484: 100988484
25 TWNK NM_021830.4(TWNK): c.276C> T (p.Gly92=) single nucleotide variant Uncertain significance rs886046631 GRCh37 Chromosome 10, 102748243: 102748243
26 TWNK NM_021830.4(TWNK): c.276C> T (p.Gly92=) single nucleotide variant Uncertain significance rs886046631 GRCh38 Chromosome 10, 100988486: 100988486
27 TWNK NM_021830.4(TWNK): c.1042G> A (p.Gly348Arg) single nucleotide variant Uncertain significance rs62626271 GRCh37 Chromosome 10, 102749009: 102749009
28 TWNK NM_021830.4(TWNK): c.1042G> A (p.Gly348Arg) single nucleotide variant Uncertain significance rs62626271 GRCh38 Chromosome 10, 100989252: 100989252
29 TWNK NM_021830.4(TWNK): c.1488T> C (p.Thr496=) single nucleotide variant Likely benign rs549767223 GRCh37 Chromosome 10, 102750196: 102750196
30 TWNK NM_021830.4(TWNK): c.1488T> C (p.Thr496=) single nucleotide variant Likely benign rs549767223 GRCh38 Chromosome 10, 100990439: 100990439
31 TWNK NM_021830.4(TWNK): c.*234T> G single nucleotide variant Uncertain significance rs886046633 GRCh37 Chromosome 10, 102753501: 102753501
32 TWNK NM_021830.4(TWNK): c.*234T> G single nucleotide variant Uncertain significance rs886046633 GRCh38 Chromosome 10, 100993744: 100993744
33 TWNK NM_021830.4(TWNK): c.*367A> G single nucleotide variant Likely benign rs62626296 GRCh37 Chromosome 10, 102753634: 102753634
34 TWNK NM_021830.4(TWNK): c.*367A> G single nucleotide variant Likely benign rs62626296 GRCh38 Chromosome 10, 100993877: 100993877
35 TWNK NM_021830.4(TWNK): c.*521C> G single nucleotide variant Benign rs11542131 GRCh37 Chromosome 10, 102753788: 102753788
36 TWNK NM_021830.4(TWNK): c.*521C> G single nucleotide variant Benign rs11542131 GRCh38 Chromosome 10, 100994031: 100994031
37 TWNK NM_021830.4(TWNK): c.*555G> A single nucleotide variant Uncertain significance rs886046635 GRCh38 Chromosome 10, 100994065: 100994065
38 TWNK NM_021830.4(TWNK): c.*555G> A single nucleotide variant Uncertain significance rs886046635 GRCh37 Chromosome 10, 102753822: 102753822
39 TWNK NM_021830.4(TWNK): c.*766A> T single nucleotide variant Benign rs3740488 GRCh37 Chromosome 10, 102754033: 102754033
40 TWNK NM_021830.4(TWNK): c.*766A> T single nucleotide variant Benign rs3740488 GRCh38 Chromosome 10, 100994276: 100994276
41 TWNK NM_021830.4(TWNK): c.-644A> T single nucleotide variant Uncertain significance rs886046623 GRCh37 Chromosome 10, 102747324: 102747324
42 TWNK NM_021830.4(TWNK): c.-644A> T single nucleotide variant Uncertain significance rs886046623 GRCh38 Chromosome 10, 100987567: 100987567
43 TWNK NM_021830.4(TWNK): c.-290G> C single nucleotide variant Likely benign rs62626270 GRCh37 Chromosome 10, 102747678: 102747678
44 TWNK NM_021830.4(TWNK): c.-290G> C single nucleotide variant Likely benign rs62626270 GRCh38 Chromosome 10, 100987921: 100987921
45 TWNK NM_021830.4(TWNK): c.*301C> T single nucleotide variant Likely benign rs41291468 GRCh37 Chromosome 10, 102753568: 102753568
46 TWNK NM_021830.4(TWNK): c.*301C> T single nucleotide variant Likely benign rs41291468 GRCh38 Chromosome 10, 100993811: 100993811
47 TWNK NM_021830.4(TWNK): c.*438G> C single nucleotide variant Uncertain significance rs886046634 GRCh37 Chromosome 10, 102753705: 102753705
48 TWNK NM_021830.4(TWNK): c.*438G> C single nucleotide variant Uncertain significance rs886046634 GRCh38 Chromosome 10, 100993948: 100993948
49 TWNK NM_021830.4(TWNK): c.-549G> A single nucleotide variant Uncertain significance rs886046625 GRCh37 Chromosome 10, 102747419: 102747419
50 TWNK NM_021830.4(TWNK): c.-549G> A single nucleotide variant Uncertain significance rs886046625 GRCh38 Chromosome 10, 100987662: 100987662

Expression for Ataxia Neuropathy Spectrum

Search GEO for disease gene expression data for Ataxia Neuropathy Spectrum.

Pathways for Ataxia Neuropathy Spectrum

Pathways related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 MRPL43 TWNK

GO Terms for Ataxia Neuropathy Spectrum

Cellular components related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 MRPL43 POLG TWNK
2 mitochondrial nucleoid GO:0042645 8.62 POLG TWNK

Biological processes related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.16 POLG TWNK
2 cellular response to glucose stimulus GO:0071333 8.96 POLG TWNK
3 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

Molecular functions related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 POLG TWNK

Sources for Ataxia Neuropathy Spectrum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....