CIAT
MCID: CGN005
MIFTS: 39

Cognitive Impairment with or Without Cerebellar Ataxia (CIAT)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cognitive Impairment with or Without Cerebellar Ataxia

MalaCards integrated aliases for Cognitive Impairment with or Without Cerebellar Ataxia:

Name: Cognitive Impairment with or Without Cerebellar Ataxia 56 73 29 13 6 71
Neurobehavioral Manifestations 43 17
Ciat 56 73
Cognitive Impairment Without Cerebellar Ataxia 6

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cognitive impairment with or without cerebellar ataxia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cognitive Impairment with or Without Cerebellar Ataxia

UniProtKB/Swiss-Prot : 73 Cognitive impairment with or without cerebellar ataxia: A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes.

MalaCards based summary : Cognitive Impairment with or Without Cerebellar Ataxia, also known as neurobehavioral manifestations, is related to aphasia and encephalopathy. An important gene associated with Cognitive Impairment with or Without Cerebellar Ataxia is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8). The drugs Ferrous succinate and Iron have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and breast, and related phenotypes are intellectual disability and dysarthria

More information from OMIM: 614306

Related Diseases for Cognitive Impairment with or Without Cerebellar Ataxia

Diseases related to Cognitive Impairment with or Without Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 aphasia 10.2
2 encephalopathy 10.2
3 alzheimer disease 9.7
4 apnea, obstructive sleep 9.7
5 immune deficiency disease 9.7
6 fragile x tremor/ataxia syndrome 9.7
7 ataxia and polyneuropathy, adult-onset 9.7
8 human immunodeficiency virus type 1 9.7
9 sleep apnea 9.7
10 fragile x-associated tremor/ataxia syndrome 9.7
11 dementia 9.7
12 vascular disease 9.7
13 substance abuse 9.7
14 mood disorder 9.7
15 vascular dementia 9.7
16 encephalitis 9.7
17 fmr1 disorders 9.7
18 binswanger's disease 9.7
19 head injury 9.7
20 tremor 9.7
21 seizures, benign familial infantile, 5 9.4 SCN8A LOC114803470
22 early infantile epileptic encephalopathy 9.2 SCN8A LOC114803470

Graphical network of the top 20 diseases related to Cognitive Impairment with or Without Cerebellar Ataxia:



Diseases related to Cognitive Impairment with or Without Cerebellar Ataxia

Symptoms & Phenotypes for Cognitive Impairment with or Without Cerebellar Ataxia

Human phenotypes related to Cognitive Impairment with or Without Cerebellar Ataxia:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 dysarthria 31 occasional (7.5%) HP:0001260
3 amblyopia 31 occasional (7.5%) HP:0000646
4 dysmetria 31 occasional (7.5%) HP:0001310
5 emotional lability 31 occasional (7.5%) HP:0000712
6 optic nerve hypoplasia 31 occasional (7.5%) HP:0000609
7 gaze-evoked nystagmus 31 occasional (7.5%) HP:0000640
8 esophoria 31 occasional (7.5%) HP:0025312
9 generalized hypotonia 31 very rare (1%) HP:0001290
10 global developmental delay 31 HP:0001263
11 delayed speech and language development 31 HP:0000750
12 cognitive impairment 31 HP:0100543
13 attention deficit hyperactivity disorder 31 HP:0007018

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
language delay
impaired intellectual development
ataxia (in some patients)
dysmetria (1 patient)
more
Muscle Soft Tissue:
hypotonia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
emotional lability
attention deficit-hyperactivity disorder

Head And Neck Eyes:
gaze-evoked nystagmus (1 patient)
amblyopia (1 patient)
optic nerve hypoplasia (1 patient)
esophoria (1 patient)

Clinical features from OMIM:

614306

Drugs & Therapeutics for Cognitive Impairment with or Without Cerebellar Ataxia

Drugs for Cognitive Impairment with or Without Cerebellar Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ferrous succinate Approved Phase 4 10030-90-7
2
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
5
Interferon beta-1b Approved Phase 4 145155-23-3
6
Vortioxetine Approved, Investigational Phase 4 508233-74-7 9966051
7
Memantine Approved, Investigational Phase 4 19982-08-2 4054
8
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
9
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
10 Hematinics Phase 4
11 Iron Supplement Phase 4
12 Dopamine Agents Phase 4
13 Anti-Bacterial Agents Phase 4
14 Excitatory Amino Acid Antagonists Phase 4
15 Interferon-beta Phase 4
16 Immunologic Factors Phase 4
17 interferons Phase 4
18 Adjuvants, Immunologic Phase 4
19 Fingolimod Hydrochloride Phase 4
20 Immunosuppressive Agents Phase 4
21 Immunoglobulins Phase 4
22 Antibodies Phase 4
23 Serotonin 5-HT1 Receptor Agonists Phase 4
24 Serotonin Receptor Agonists Phase 4
25 Anti-Anxiety Agents Phase 4
26 Serotonin Uptake Inhibitors Phase 4
27 Serotonin 5-HT3 Receptor Antagonists Phase 4
28 Antiparkinson Agents Phase 4
29 Dihydromevinolin Phase 4
30 Hypolipidemic Agents Phase 4
31 Lipid Regulating Agents Phase 4
32 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
33 Anticholesteremic Agents Phase 4
34 L 647318 Phase 4
35 Antimetabolites Phase 4
36 Hormones Phase 4
37 Hormone Antagonists Phase 4
38 Estrogen Antagonists Phase 4
39 Estrogen Receptor Antagonists Phase 4
40 Estrogen Receptor Modulators Phase 4
41 Estrogens Phase 4
42 Raloxifene Hydrochloride Phase 4
43 Analgesics Phase 4
44 Adrenergic alpha-Agonists Phase 4
45 Analgesics, Non-Narcotic Phase 4
46 Adrenergic Agonists Phase 4
47 Hypnotics and Sedatives Phase 4
48
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
49
Norepinephrine Approved Phase 3 51-41-2 439260
50
Bupropion Approved Phase 3 34911-55-2, 34841-39-9 444

Interventional clinical trials:

(show top 50) (show all 85)
# Name Status NCT ID Phase Drugs
1 Randomized, Controlled Study of Iron Supplementation of Infants With Birth Weights 2000-2500 g Completed NCT00558454 Phase 4 Iron
2 A Double-Blind,Randomized Study of Minocycline for the Treatment of Negative and Cognitive Symptoms in Schizophrenia Completed NCT01493622 Phase 4 minocycline;placebo
3 A 18-month, Open-label, Rater-blinded, Randomized, Multi-center, Active-controlled, Parallel-group Pilot Study to Assess Efficacy and Safety of Fingolimod in Comparison to Interferon Beta 1b in Treating the Cognitive Symptoms Associated to Relapsing-remitting Multiple Sclerosis and to Assess Possible Relationship of These Effects to Regional Brain Atrophy Completed NCT01333501 Phase 4 Fingolimod;Interferon beta 1b
4 Tocilizumab, An IL-6 Receptor Antibody, As Add-On Treatment For Residual Positive, Negative, and Cognitive Symptoms of Schizophrenia: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT02034474 Phase 4 Tocilizumab;Placebo
5 Interventional, Open-Label, Single Cohort, Canadian Study to Describe the Relationship Between Cognitive Symptoms and Work Productivity in Working Adults Treated With Vortioxetine for Major Depressive Disorder (MDD) Completed NCT02332954 Phase 4 vortioxetine
6 A 24-Week Pilot, Double-Blind, Randomized, Parallel, Placebo-Controlled Study of Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:Correlation With Cognitive Evoked Potentials During Recovery. Completed NCT00640198 Phase 4 memantine;memantine;placebo
7 Combining Lovastatin and a Parent-Implemented Language Intervention in a Multimodal Treatment for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
8 Hyperoxia: An Unrecognized Mechanism for Inducing "Hypoxia-Like" Symptoms Completed NCT03268590 Phase 4 Oxygen
9 Selective Estrogen Receptor Modulators - Adjunctive Treatment for Negative and Cognitive Symptoms of Schizophrenia in Postmenopausal Women Completed NCT03418831 Phase 4 Raloxifene Hydrochloride
10 Cognitive Outcomes After Dexmedetomidine Sedation in Cardiac Surgery Patients: CODEX Trial Recruiting NCT04289142 Phase 4 Dexmedetomidine Hydrochloride Group
11 The Effects of Wellbutrin (Bupropion) on Residual and Cognitive Symptoms in SSRI-treated Depression Completed NCT00125957 Phase 3 Wellbutrin;Placebo
12 A Double Blind Randomized Study of Minocycline for the Treatment of Negative and Cognitive Symptoms in Early-Phase Schizophrenia Completed NCT00733057 Phase 3 Minocycline;Placebo (200 mg/day)
13 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome Recruiting NCT03479476 Phase 2, Phase 3 Placebo Medication;Metformin
14 Efficacy and Safety of Rivastigmine in Patients With Mild Cognitive Impairment Terminated NCT00134953 Phase 3 Rivastigmine
15 Residual Effects of Intoxication on Student Performance Unknown status NCT00183170 Phase 2 Beer (alcohol)
16 Acute and Residual Effects of Beer VS. Caffeinated Beer On Simulated Driving Completed NCT00515294 Phase 1, Phase 2 Caffeinated Alcoholic Beer;Caffeinated Non-Alcoholic Beer
17 Ginkgo Biloba for Cognitive Impairment in Multiple Sclerosis Completed NCT00841321 Phase 2 Ginkgo biloba;Placebo
18 Hangover, Congeners, Sleep and Occupational Performance Completed NCT00247585 Phase 2 Ethanol (Bourbon or Vodka)
19 Melatonin Randomized Trial for Insomnia in the Elderly Completed NCT00230737 Phase 2 Melatonin 0.4 mg;Melatonin 4.0 mg;Placebo
20 A Blind-adjudication Multi-center Phase II Randomized Clinical Trial of Continuous Low-dose Intravenous Heparin Therapy in Coiled Low-grade Aneurysmal Subarachnoid Hemorrhage Patients With Significant Hemorrhage Burden Recruiting NCT02501434 Phase 2 Continuous Low-Dose IV Unfractionated Heparin Infusion
21 A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS) Recruiting NCT03862950 Phase 2 Placebo Medication;Metformin
22 Computer-Based Training in Patients With Post-Chemotherapy Cognitive Impairment, A Pilot Study Completed NCT00387062 Phase 1
23 Touchscreen-based Cognitive Tests in Assessment of Ketamine-induced Cognitive Deficits in Healthy Volunteers Active, not recruiting NCT03469089 Phase 1 Ketamine 0.58;Ketamine 0.31;Modafinil;Placebo for ketamine;Placebo for modafinil
24 Etude Des Troubles de l'Inhibition Cognitive Chez le Sujet âgé déprimé Suicidant Unknown status NCT01333215
25 The Dopaminergic System in Schizotypal Personality Disorder: Pergolide for Cognitive Symptoms in Schizotypal Personality Disorder Unknown status NCT00252044 Pergolide
26 A Randomised Controlled Trial of Aerobic Exercise for Inpatients With Bipolar Affective Disorder Unknown status NCT03353337
27 Cognitive Remediation in Supported Employment at HSC Unknown status NCT00138021
28 Constraint-Induced Aphasia Therapy Following Sub-acute Stroke: A Modified Therapy Schedule Completed NCT01625676
29 Constraint Induced Aphasia Therapy in Stroke Patients in Acute Stage. Completed NCT02804412
30 Investigation to Determine the Effects of Mild Hypobaric Hypoxia on Sleep and Post-Sleep Neurobehavioral Performance Completed NCT00498563
31 Pilot Study of Pregnenolone Augmentation Targeting Cognitive Symptoms in Persistently Symptomatic Patients With Schizophrenia Completed NCT00560937 Pregnenolone;Placebo
32 Post-ICU Neurocognitive Performance and Sleep Quality Ratings Following Exposure to a Medical ICU Sleep Quality Improvement Project Completed NCT01061242
33 Psychiatric and Cognitive Manifestations of Parkinson's Disease: A Prospective Cohort Study Completed NCT00360633
34 Pilot Study Using a Video Game to Train Cognitive Control Processes in Healthy Older Adults Completed NCT00586638
35 The Effect of Oral Vitamin B12 Supplementation on Cognitive Performance in Elderly People: the Brain12 Study Completed NCT00111267
36 Self-defining Memories in Patients With a TBI and Their Relationships With Cognitive, Emotional and Behavioural Dimensions Completed NCT02680210
37 Normative Values for the German Version of the Montreal Cognitive Assessment (MoCA) Completed NCT03246269
38 fMRI of Language Recovery Following Stroke in Adults Completed NCT00843427
39 Neuropsychiatric Adverse Effects of Efavirenz in Children Living With HIV in Kilimanjaro, Tanzania Completed NCT03227653 Efavirenz;Nevirapine;Lopinavir-Ritonavir Drug Combination
40 A Randomized Controlled Study of Adenotonsillectomy for Children With Obstructive Sleep Apnea Syndrome Completed NCT00560859
41 The Neurobiology of Chemotherapy-Induced Cognitive Impairment Completed NCT01578083
42 The Effect of Comprehensive Geriatric Assessment and Case Conferencing on Neuropsychiatric Symptoms Among Patients in Norwegian Nursing Homes Completed NCT02790372
43 Growth, Health and Development in Children Born Extremely Preterm Completed NCT01150071
44 Effect on Early Somatic Growth of a Daily Kinesthetic Stimulation on Preterm Infants Either In Kangaroo Position or in Incubator: A Randomized Control Trial Completed NCT03574350
45 Prevention of Head Impacts in Football: The HuTT Technique Completed NCT02519478
46 Can an Evidence-based Mirrors Intervention Reduce Postoperative Delirium in Older Cardiac Surgical Patients? A Pilot and Feasibility Cluster Randomised Controlled Trial Completed NCT01599689
47 Brain Connectivity Supporting Language Recovery in Aphasia Completed NCT02416856
48 Cognitive Recovery After Electroconvulsive Therapy and General Anesthesia Reconstitution of Consciousness and Cognition (Phase 2) Completed NCT02761330 Ketamine
49 Adolescence, Puberty, Hormones, and Emotion Regulation: An fMRI Study Completed NCT00016731
50 Bädda för Kvalitet: Proaktiva Strategier för återhämtning i främjandet av hälsa Och Arbetsprestation. Completed NCT04246736

Search NIH Clinical Center for Cognitive Impairment with or Without Cerebellar Ataxia

Cochrane evidence based reviews: neurobehavioral manifestations

Genetic Tests for Cognitive Impairment with or Without Cerebellar Ataxia

Genetic tests related to Cognitive Impairment with or Without Cerebellar Ataxia:

# Genetic test Affiliating Genes
1 Cognitive Impairment with or Without Cerebellar Ataxia 29 SCN8A

Anatomical Context for Cognitive Impairment with or Without Cerebellar Ataxia

MalaCards organs/tissues related to Cognitive Impairment with or Without Cerebellar Ataxia:

40
Brain, Testes, Breast, Spleen, Cortex, Kidney, Skin

Publications for Cognitive Impairment with or Without Cerebellar Ataxia

Articles related to Cognitive Impairment with or Without Cerebellar Ataxia:

(show top 50) (show all 157)
# Title Authors PMID Year
1
Loss-of-function variants of SCN8A in intellectual disability without seizures. 6 56
28702509 2017
2
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 56 6
16236810 2006
3
SCN8A-Related Epilepsy with Encephalopathy 6
27559564 2016
4
Screening Andean Diversity Panel Dry Bean Lines for Resistance to Bacterial Brown Spot Disease Under Field Conditions in South Africa. 61
32579057 2020
5
Hydrogen-uptake genes improve symbiotic efficiency in common beans (Phaseolus vulgaris L.). 61
31900709 2020
6
Complete Genome Sequence of the Plant Pathogen Ralstonia solanacearum Strain CIAT-078, Isolated in Colombia, Obtained Using Oxford Nanopore Technology. 61
32467281 2020
7
Cassava breeding and agronomy in Asia: 50 years of history and future directions. 61
32523397 2020
8
Creating Options for Difficult-to-match Kidney Transplant Candidates. 61
32101984 2020
9
Machine learning for high-throughput field phenotyping and image processing provides insight into the association of above and below-ground traits in cassava (Manihot esculenta Crantz). 61
32549903 2020
10
A bioinspired approach to engineer seed microenvironment to boost germination and mitigate soil salinity. 61
31776251 2019
11
Constraint-induced or multi-modal personalized aphasia rehabilitation (COMPARE): A randomized controlled trial for stroke-related chronic aphasia. 61
31496440 2019
12
Identification of Compounds That Interfere with High-Throughput Screening Assay Technologies. 61
31479198 2019
13
Smart forage selection could significantly improve soil health in the tropics. 61
31254827 2019
14
Regulation of hsnT, nodF and nodE genes in Rhizobium tropici CIAT 899 and their roles in the synthesis of Nod factors and in the symbiosis. 61
31184576 2019
15
Genomics, genetics and breeding of common bean in Africa: A review of tropical legume project. 61
31728074 2019
16
A decade of Tropical Legumes projects: Development and adoption of improved varieties, creation of market-demand to benefit smallholder farmers and empowerment of national programmes in sub-Saharan Africa and South Asia. 61
31762525 2019
17
Rhizobium tropici CIAT 899 copA gene plays a fundamental role in copper tolerance in both free life and symbiosis with Phaseolus vulgaris. 61
31081746 2019
18
Revealing the roles of y4wF and tidC genes in Rhizobium tropici CIAT 899: biosynthesis of indolic compounds and impact on symbiotic properties. 61
30535938 2019
19
A real time QSAR-driven toxicity evaluation and monitoring of iron containing fine particulate matters in indoor subway stations. 61
30458403 2019
20
Calcific Insertional Achilles Tendinopathy-Achilles Repair With Flexor Hallucis Longus Tendon Transfer: Case Series and Surgical Technique. 61
30612865 2019
21
Data for the calculation of an indicator of the comprehensiveness of conservation of useful wild plants. 61
30581910 2019
22
Analyses of African common bean (Phaseolus vulgaris L.) germplasm using a SNP fingerprinting platform: diversity, quality control and molecular breeding. 61
30956400 2019
23
A global overview of cassava genetic diversity. 61
31693686 2019
24
Field drought conditions impact yield but not nutritional quality of the seed in common bean (Phaseolus vulgaris L.). 61
31170187 2019
25
Osmotic stress activates nif and fix genes and induces the Rhizobium tropici CIAT 899 Nod factor production via NodD2 by up-regulation of the nodA2 operon and the nodA3 gene. 61
30917160 2019
26
Effect of type of language therapy on expressive language skills in patients with post-stroke aphasia. 61
29749688 2018
27
Genetic diversity and symbiotic effectiveness of Phaseolus vulgaris-nodulating rhizobia in Kenya. 61
29571921 2018
28
Co-inoculation of maize with Azospirillum brasilense and Rhizobium tropici as a strategy to mitigate salinity stress. 61
32290956 2018
29
Dissecting the Acid Stress Response of Rhizobium tropici CIAT 899. 61
29760688 2018
30
A feasibility study of combined intermittent theta burst stimulation and modified constraint-induced aphasia therapy in chronic post-stroke aphasia. 61
29889086 2018
31
Combining rTMS With Intensive Language-Action Therapy in Chronic Aphasia: A Randomized Controlled Trial. 61
30778280 2018
32
Genetic diversity of symbiotic bacteria nodulating common bean (Phaseolus vulgaris) in western Kenya. 61
30440041 2018
33
Transcriptomic Studies of the Effect of nod Gene-Inducing Molecules in Rhizobia: Different Weapons, One Purpose. 61
29267254 2017
34
Changes in in vitro ruminal and post-ruminal degradation of tropical tannin-rich legumes due to varying levels of polyethylene glycol. 61
28052457 2017
35
Comparative outcome in patients with delirium tremens receiving care in emergency services only versus those receiving comprehensive inpatient care. 61
29085087 2017
36
Neuroimaging Correlates of Post-Stroke Aphasia Rehabilitation in a Pilot Randomized Trial of Constraint-Induced Aphasia Therapy. 61
28719572 2017
37
The Rhizobium tropici CIAT 899 NodD2 protein regulates the production of Nod factors under salt stress in a flavonoid-independent manner. 61
28488698 2017
38
Expanded Target-Chemical Analysis Reveals Extensive Mixed-Organic-Contaminant Exposure in U.S. Streams. 61
28401767 2017
39
Indole-3-acetic acid production via the indole-3-pyruvate pathway by plant growth promoter Rhizobium tropici CIAT 899 is strongly inhibited by ammonium. 61
27845247 2017
40
Constraint-induced aphasia therapy in post-stroke aphasia rehabilitation: A systematic review and meta-analysis of randomized controlled trials. 61
28846724 2017
41
Deep Assessment of Genomic Diversity in Cassava for Herbicide Tolerance and Starch Biosynthesis. 61
28179981 2017
42
Constraint-Induced Aphasia Therapy in the Acute Stage: What Is the Key Factor for Efficacy? A Randomized Controlled Study. 61
27506677 2017
43
Co-inoculation Effect of Rhizobia and Plant Growth Promoting Rhizobacteria on Common Bean Growth in a Low Phosphorus Soil. 61
28224000 2017
44
Shoot and Root Traits Contribute to Drought Resistance in Recombinant Inbred Lines of MD 23-24 × SEA 5 of Common Bean. 61
28316609 2017
45
Hemispheric contributions to language reorganisation: An MEG study of neuroplasticity in chronic post stroke aphasia. 61
27063061 2016
46
Estimation of phenotypic variability in symbiotic nitrogen fixation ability of common bean under drought stress using 15N natural abundance in grain. 61
27594779 2016
47
Genome of Rhizobium leucaenae strains CFN 299(T) and CPAO 29.8: searching for genes related to a successful symbiotic performance under stressful conditions. 61
27485828 2016
48
Constraint Induced Aphasia Therapy: Volunteer-led, unconstrained and less intense delivery can be effective. 61
27341364 2016
49
Asymmetric Synthesis and Binding Study of New Long-Chain HPA-12 Analogues as Potent Ligands of the Ceramide Transfer Protein CERT. 61
27031925 2016
50
RNA-seq analysis of the Rhizobium tropici CIAT 899 transcriptome shows similarities in the activation patterns of symbiotic genes in the presence of apigenin and salt. 61
26951045 2016

Variations for Cognitive Impairment with or Without Cerebellar Ataxia

ClinVar genetic disease variations for Cognitive Impairment with or Without Cerebellar Ataxia:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN8A NM_001330260.2(SCN8A):c.3652G>A (p.Glu1218Lys)SNV Pathogenic 624624 rs1555226823 12:52167979-52167979 12:51774195-51774195
2 SCN8A NM_001330260.2(SCN8A):c.5156_5157del (p.Pro1719fs)deletion Pathogenic 8912 rs587776703 12:52200426-52200427 12:51806642-51806643
3 SCN8A NM_001330260.2(SCN8A):c.2890G>C (p.Gly964Arg)SNV Pathogenic 383545 rs1057521662 12:52159800-52159800 12:51766016-51766016
4 SCN8A NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)SNV Pathogenic/Likely pathogenic 195688 rs794727361 12:52180350-52180350 12:51786566-51786566
5 SCN8A NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)SNV Likely pathogenic 420831 rs1064794727 12:52200876-52200876 12:51807092-51807092
6 SCN8A NM_001330260.2(SCN8A):c.615-186A>GSNV Likely pathogenic 689732 12:52082603-52082603 12:51688819-51688819
7 SCN8A NM_001330260.2(SCN8A):c.615-165G>ASNV Likely pathogenic 689734 12:52082624-52082624 12:51688840-51688840
8 SCN8A NM_001330260.2(SCN8A):c.2546T>A (p.Leu849His)SNV Likely pathogenic 807679 12:52159456-52159456 12:51765672-51765672
9 SCN8A NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val)SNV Conflicting interpretations of pathogenicity 579919 rs764115258 12:52200749-52200749 12:51806965-51806965
10 SCN8A NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)SNV Conflicting interpretations of pathogenicity 290005 rs886044328 12:52200147-52200147 12:51806363-51806363
11 SCN8A NM_001330260.2(SCN8A):c.457A>C (p.Asn153His)SNV Uncertain significance 207139 rs796053232 12:52080213-52080213 12:51686429-51686429
12 SCN8A NM_001330260.2(SCN8A):c.5375G>A (p.Trp1792Ter)SNV Uncertain significance 869443 12:52200645-52200645 12:51806861-51806861
13 SCN8A NM_001330260.2(SCN8A):c.4972C>T (p.Leu1658Phe)SNV Uncertain significance 873456 12:52200242-52200242 12:51806458-51806458
14 SCN8A NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln)SNV Uncertain significance 436670 rs756127631 12:52162911-52162911 12:51769127-51769127
15 SCN8A NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser)SNV Uncertain significance 626165 rs769269501 12:52056672-52056672 12:51662888-51662888

Expression for Cognitive Impairment with or Without Cerebellar Ataxia

Search GEO for disease gene expression data for Cognitive Impairment with or Without Cerebellar Ataxia.

Pathways for Cognitive Impairment with or Without Cerebellar Ataxia

GO Terms for Cognitive Impairment with or Without Cerebellar Ataxia

Sources for Cognitive Impairment with or Without Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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