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MNMN
MCID: MNN028
MIFTS: 46

Mononeuropathy of the Median Nerve, Mild (MNMN)

Categories: Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Mononeuropathy of the Median Nerve, Mild

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MalaCards integrated aliases for Mononeuropathy of the Median Nerve, Mild:

Name: Mononeuropathy of the Median Nerve, Mild 57 29 13 6 39 71
Carpal Tunnel Syndrome 57 73 71
Mnmn 57 73
Carpal Tunnel Syndrome, Susceptibility to 57
Mononeuropathy of the Median Nerve Mild 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c


HPO:

31
mononeuropathy of the median nerve, mild:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 613353
MeSH 44 D002349
MedGen 41 C3150596
UMLS 71 C0007286 C3150596
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Summaries for Mononeuropathy of the Median Nerve, Mild

About this section
UniProtKB/Swiss-Prot : 73 Mononeuropathy of the median nerve mild: A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies.

MalaCards based summary : Mononeuropathy of the Median Nerve, Mild, also known as carpal tunnel syndrome, is related to mononeuropathy and charcot-marie-tooth disease, and has symptoms including seizures, tremor and back pain. An important gene associated with Mononeuropathy of the Median Nerve, Mild is SH3TC2 (SH3 Domain And Tetratricopeptide Repeats 2). The drugs Betamethasone and Ketorolac have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are polyneuropathy and constrictive median neuropathy

More information from OMIM: 613353
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Related Diseases for Mononeuropathy of the Median Nerve, Mild

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Diseases related to Mononeuropathy of the Median Nerve, Mild via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 432)
# Related Disease Score Top Affiliating Genes
1 mononeuropathy 30.7 SH3TC2 LOC114004390
2 charcot-marie-tooth disease 29.2 SH3TC2 LOC114004390
3 carpal tunnel syndrome 12.3
4 carpal tunnel syndrome 2 11.7
5 amyloidosis, hereditary, transthyretin-related 11.4
6 neuropathy, hereditary, with liability to pressure palsies 11.4
7 paresthesia 11.4
8 peripheral nervous system disease 11.3
9 chromosome 1q21.1 duplication syndrome 11.3
10 radiculopathy 11.3
11 acromegaly 11.3
12 repetitive motion disorders 11.2
13 cumulative trauma disorders 11.2
14 scheie syndrome 11.2
15 mucopolysaccharidosis, type ii 11.2
16 repetitive stress injuries 11.2
17 acromicric dysplasia 11.2
18 mucopolysaccharidosis, type vi 11.2
19 mucopolysaccharidosis, type vii 11.1
20 macrodactyly of fingers 11.1
21 neuropathy 11.0
22 tenosynovitis 11.0
23 amyloidosis 10.9
24 polyneuropathy 10.9
25 median neuropathy 10.8
26 nerve compression syndrome 10.8
27 hypothyroidism 10.8
28 gout 10.7
29 mucopolysaccharidosis-plus syndrome 10.7
30 slowed nerve conduction velocity, autosomal dominant 10.7
31 plica syndrome 10.7
32 synovitis 10.7
33 body mass index quantitative trait locus 1 10.7
34 raynaud phenomenon 10.7
35 ulnar neuropathy 10.7
36 diabetic polyneuropathy 10.6
37 neuromuscular disease 10.6
38 mucopolysaccharidoses 10.6
39 lipomatosis, multiple 10.6
40 pleomorphic lipoma 10.6
41 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.6
42 tendinitis 10.6
43 arthropathy 10.6
44 rapidly involuting congenital hemangioma 10.6
45 chronic pain 10.5
46 macrodactyly 10.5
47 thoracic outlet syndrome 10.5
48 muscular atrophy 10.5
49 epicondylitis 10.5
50 chronic kidney disease 10.5

Comorbidity relations with Mononeuropathy of the Median Nerve, Mild via Phenotypic Disease Network (PDN):


Deficiency Anemia Diabetic Polyneuropathy
Hypertension, Essential Hypothyroidism
Intermediate Coronary Syndrome Rheumatoid Arthritis
Transient Cerebral Ischemia Ulnar Nerve Lesion

Graphical network of the top 20 diseases related to Mononeuropathy of the Median Nerve, Mild:



Diseases related to Mononeuropathy of the Median Nerve, Mild
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Symptoms & Phenotypes for Mononeuropathy of the Median Nerve, Mild

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Human phenotypes related to Mononeuropathy of the Median Nerve, Mild:

31
# Description HPO Frequency HPO Source Accession
1 polyneuropathy 31 HP:0001271
2 constrictive median neuropathy 31 HP:0012185
3 peripheral axonal neuropathy 31 HP:0003477
4 mononeuropathy 31 HP:0009831

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Peripheral Nervous System:
carpal tunnel syndrome
mononeuropathy of the median nerve
more widespread axonal polyneuropathy may occur
patchy axonal neuropathy

Clinical features from OMIM®:

613353 (Updated 05-Mar-2021)

UMLS symptoms related to Mononeuropathy of the Median Nerve, Mild:


seizures, tremor, back pain, headache, syncope, pain, chronic pain, sciatica, vertigo/dizziness, sleeplessness, muscle cramp
Sources

Drugs & Therapeutics for Mononeuropathy of the Median Nerve, Mild

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Drugs for Mononeuropathy of the Median Nerve, Mild (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 165)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
2
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
3
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
4
Racepinephrine Approved Phase 4 329-65-7 838
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Allantoin Approved Phase 4 97-59-6 204
7
Cefazolin Approved Phase 4 25953-19-9 656510 33255
8
Vancomycin Approved Phase 4 1404-90-6 441141 14969
9
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
10
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
11
Ibuprofen Approved Phase 4 15687-27-1 3672
12
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
13
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
14
Acetaminophen Approved Phase 4 103-90-2 1983
15
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
16
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
17
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
18 Betamethasone sodium phosphate Phase 4
19 Betamethasone-17,21-dipropionate Phase 4
20 Betamethasone benzoate Phase 4
21 Betamethasone Valerate Phase 4 2152-44-5
22 Ketorolac Tromethamine Phase 4
23 Alpha-lipoic Acid Phase 4
24 Thioctic Acid Phase 4
25 Retinol palmitate Phase 4
26 retinol Phase 4
27 Epinephryl borate Phase 4
28 Dermatologic Agents Phase 4
29 Ibuprofen arginine Phase 4
30 Antibiotics, Antitubercular Phase 4
31 Anti-Bacterial Agents Phase 4
32 Neurotransmitter Agents Phase 4
33 Psychotropic Drugs Phase 4
34 Excitatory Amino Acid Antagonists Phase 4
35 Anti-Anxiety Agents Phase 4
36 Anticonvulsants Phase 4
37 Cyclooxygenase Inhibitors Phase 4
38 Protective Agents Phase 4
39 Antioxidants Phase 4
40 Anti-Infective Agents Phase 4
41 Antiviral Agents Phase 4
42 Expectorants Phase 4
43 N-monoacetylcystine Phase 4
44 Antidotes Phase 4
45 Analgesics Phase 4
46 Anti-Inflammatory Agents Phase 4
47 Respiratory System Agents Phase 4
48 Analgesics, Non-Narcotic Phase 4
49 Narcotics Phase 4
50 Acetaminophen, hydrocodone drug combination Phase 4

Interventional clinical trials:

(show top 50) (show all 267)
# Name Status NCT ID Phase Drugs
1 Non-surgical Treatment of Carpal Tunnel Syndrome: Night Splint Versus Local Corticosteroid Infiltration: Clinical Randomized Trial Unknown status NCT03196817 Phase 4 betamethasone dipropionate, betamethasone disodium phosphate and lidocaine 2%
2 Comparing Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol Administration for Carpal Tunnel Release and Distal Radius Fracture Surgeries Completed NCT02313675 Phase 4 Acetaminophen;Ketorolac Tromethamine;Saline
3 Randomised, Multicentre, Open Label, Parallel Group Pragmatic Clinical Trial of Local Steroid Injection Versus Night Splinting in Mild to Moderate Carpal Tunnel Syndrome (CTS) Completed NCT02038452 Phase 4 Depo-Medrone
4 Effect of Myofascial Release on Electrophysiological and Clinical Measures of Pregnant Women With Carpal Tunnel Syndrome Completed NCT03802448 Phase 4
5 Local Steroid Injection vs Wrist Splinting for Carpal Tunnel Syndrome: A Randomized Clinical Trial Completed NCT02140632 Phase 4
6 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome (Cts): A Randomized, Placebo-Controlled Trial With Secondary Bayesian Modification Completed NCT00277563 Phase 4
7 Comparison of the Efficacy of Corticosteroid Injection and Extracorporeal Shock Wave Therapy (ESWT) in Patients With Carpal Tunnel Syndrome; A Prospective Randomized Controlled Trial Completed NCT03792945 Phase 4 local injection
8 Length of Postoperative Dressing After Mini-open Carpal Tunnel Release: A Randomized Prospective Comparison Completed NCT01310218 Phase 4
9 Bupivacaine Versus Lidocaine Local Anesthesia in Elective Outpatient Hand Surgery: A Randomized Controlled Trial Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
10 Extended Follow-up of a Randomized Placebo-controlled Trial of Local Steroid Injection in Carpal Tunnel Syndrome Completed NCT02652390 Phase 4 Methylprednisolone 80 mg;Methylprednisolone 40 mg
11 Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters Completed NCT00678314 Phase 4 Ropivacaine 0.2%;Ropivacaine 0.75%;Normal saline
12 Onset and Duration of Forearm Nerve Blockade Performed With a Single Distal Injection Versus Sequential Injections at Distal and Proximal Locations Alongside the Nerves: A Blinded Randomized Completed NCT03649763 Phase 4 Lidocaine;Bupivacaine;Lidocaine
13 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
14 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4 Placebo Capsules + Placebo Patch;Placebo capsules + Lidoderm®;Gabapentin + Placebo;Gabapentin + Lidoderm®;Gabapentin 300 mg capsules 1800 mg/day + placebo patch;Gabapentin 1800 mg/day + Lidoderm patch
15 Pain Reduction and Changes in Upper Limb Function Produced by Physiotherapy, Ibuprofen Arginine, Gabapentin and the Absence of Treatment, in Carpal Tunnel Syndrome Recruiting NCT04025203 Phase 4 Ibuprofen Arginine;Gabapentin
16 The Effect of Theraworx Foam on the Cross-sectional Area of the Median Nerve in Patients With Carpal Tunnel Syndrome Recruiting NCT04017390 Phase 4 Theraworx Foam;Placebo Foam
17 Endoscopic Carpal Tunnel Release, Infection Incidence, and Prophylactic Antibiotics: Indicated or Kick the Habit? Recruiting NCT03432858 Phase 4 Vancomycin;Cefazolin;Saline Solution
18 Exparel and Education to Avoid Opioids After Carpal Tunnel Release Recruiting NCT03867539 Phase 4
19 A Randomized, Controlled Trial Comparing Combination Therapy of Ibuprofen + Acetaminophen Versus Hydrocodone + Acetaminophen for the Treatment of Pain After Carpal Tunnel Surgery Active, not recruiting NCT01974609 Phase 4 Narcotic;non-narcotic
20 A Prospective, Randomized, Double-Blind, Cross-over Study of Lidocaine Patch 1.8% in Patients With Moderate to Severe Pain From Carpal Tunnel Syndrome Not yet recruiting NCT04245371 Phase 4 Lidocaine 1.8%;Placebo
21 Pain Reduction and Changes in Upper Limb Function Produced by Over the Counter Oral Ibuprofen Versus the Lack of Treatment, in Carpal Tunnel Syndrome. Not yet recruiting NCT04328805 Phase 4 Ibuprofen tablets
22 Oral Gabapentin Versus Control in the Treatment of Carpal Tunnel Syndrome Not yet recruiting NCT04285281 Phase 4 Gabapentin oral capsules
23 Pain Reduction Produced by Physiotherapy, Ibuprofen, and the Absence of Treatment, in Carpal Tunnel Syndrome Not yet recruiting NCT04119739 Phase 4 Ibuprofen
24 The Use of N-acetylcysteine Supplementation in Addition to Night Splinting for Treatment of Mild to Moderate Carpal Tunnel Syndrome: A Randomized, Double-blind, Placebo-controlled Trial Not yet recruiting NCT04460521 Phase 4 N-Acetyl cysteine
25 Satisfaction With Pain Relief After Carpal Tunnel Release Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
26 Comparison Results of Carpal Tunnel Release Between Standard Incision and Limited Incision Using PSU Retractor: A Randomized Controlled Trial Unknown status NCT01017471 Phase 3
27 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Unknown status NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
28 Gabapentin for Carpal Tunnel Syndrome: A Randomised Controlled Trial Completed NCT00137735 Phase 3 Gabapentin
29 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
30 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome; a Randomized Control Trial. Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
31 Local Steroid Injection in the Treatment of Idiopathic Carpal Tunnel Syndrome: A Randomized Double-blind Placebo-controlled Trial Among Patients Planned for Surgical Treatment Completed NCT00806871 Phase 2, Phase 3 Methylprednisolone 40 mg;Methylprednisolone 80 mg;Sodium chloride
32 Effect of Preoperative Gabapentine for Carpal Tunnel Syndrome Completed NCT01632215 Phase 3 Gabapentine
33 Comparison of Local Steroid Injection With Platelet Rich Plasma in the Treatment of Carpal Tunnel Syndrome Recruiting NCT04000932 Phase 3 Local platelet rich plasma (PRP) injection-T-Lab PRP kit;Local steroid injection-Diprospan ®, Schering Plough
34 Ultrasound-guided PRP Versus Steroid Injections in Management of Carpal Tunnel Syndrome; a Comparative Study Active, not recruiting NCT04434105 Phase 2, Phase 3 platlet rich plasma (PRP);Triamcinolone Acetonide;Saline
35 The Soft Tissue Injection of Corticosteroid And Local Anaesthetic Study - A Single Site, Non-inferiority Randomised Control Trial Evaluating Pain After Soft Tissue Corticosteroid Injections With and Without Local Anaesthetic Suspended NCT04253457 Phase 3 1ml of triamcinolone (40mg/1ml)
36 A Randomized, Double-Blind Study Comparing the Safety and Efficacy of the Lidocaine Patch 5% With Placebo in Patients With Pain From Carpal Tunnel Syndrome Terminated NCT00266214 Phase 3 lidocaine patch 5%
37 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
38 A Phase III, Randomized, Open-label Study to Assess the Safety and Efficacy of AQUAVAN® Injection Versus Midazolam HCl for Sedation in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3 fospropofol disodium
39 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
40 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
41 Instiutional Review Board of Chung Shan Medical University Hospital Unknown status NCT00514462 Phase 1, Phase 2
42 Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral Nerves Completed NCT00665132 Phase 1, Phase 2
43 Mechanisms of Neural Mobilization in the Treatment of Chronic Pain Completed NCT00929123 Phase 1, Phase 2
44 Effectiveness of Alpha Lipoic Acid on Clinical and Electrophysiological Recovery in Patients With Carpal Tunnel Syndrome Surgical Release Completed NCT02382328 Phase 2 alpha lipoic acid;Placebo
45 Efficacy of the Interferential Laser Therapy in Pain Reduction in Carpal Tunnel Syndrome Completed NCT01093209 Phase 2
46 Ultrasound-assisted Percutaneous Release of Carpal Tunnel Syndrome Completed NCT02514317 Phase 2
47 BOTOX® (Onabotulinumtoxin A) Injection(s) as a Treatment for Carpal Tunnel Syndrome Completed NCT02070302 Phase 2 Botulinum Toxin Type A;Placebo
48 A Pilot Study to Evaluate the Effectiveness of Ultrasound Guided Looped Thread Carpal Tunnel Release Completed NCT03476486 Phase 2
49 Treatment Efficacy of OMT for Carpal Tunnel Syndrome Completed NCT00394043 Phase 2
50 A Controlled Trial of Acupuncture for Carpal Tunnel Syndrome Completed NCT00000394 Phase 2

Search NIH Clinical Center for Mononeuropathy of the Median Nerve, Mild

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Genetic Tests for Mononeuropathy of the Median Nerve, Mild

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Genetic tests related to Mononeuropathy of the Median Nerve, Mild:

# Genetic test Affiliating Genes
1 Mononeuropathy of the Median Nerve, Mild 29 SH3TC2
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Anatomical Context for Mononeuropathy of the Median Nerve, Mild

About this section

MalaCards organs/tissues related to Mononeuropathy of the Median Nerve, Mild:

40
Skin, Bone
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Publications for Mononeuropathy of the Median Nerve, Mild

About this section

Articles related to Mononeuropathy of the Median Nerve, Mild:

(show all 29)
# Title Authors PMID Year
1
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 6 57
20220177 2010
2
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. 6
19272779 2009
3
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 6
18511281 2008
4
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 6
16924012 2006
5
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 6
14574644 2003
6
New members of the polynuclear manganese family: MnMn single-molecule magnets and MnMn antiferromagnetic complexes. Synthesis and magnetostructural correlations. 61
32985628 2020
7
A Flow-Through Membraneless Microfluidic Zinc-Air Cell. 61
32840345 2020
8
Co-existence of ferro- and antiferromagnetic interactions in a hexanuclear mixed-valence CoMnMn cluster sustained by a multidentate Schiff base ligand. 61
31305843 2019
9
Valence Variations by B-Site Doping in A-Site Columnar-Ordered Quadruple Perovskites Sm2MnMn(Mn4- xTi x)O12 with 1 ≤ x ≤ 3. 61
30768249 2019
10
Extremely Large Non-equilibrium Tunnel Magnetoresistance Ratio in CoRhMnGe Based Magnetic Tunnel Junction by Interface Modification. 61
31508406 2019
11
Reversible complexation of ammonia by breaking a manganese-manganese bond in a manganese carbonyl ethylenedithiolate complex: a theoretical study of an unusual type of Lewis acid. 61
30520485 2018
12
Structural, electronic and magnetic properties of MnxGa/Co2MnSi (x = 1, 3) bilayers. 61
30410085 2018
13
Influence of the metal ion on the enzyme activity and kinetics of PepA from Lactobacillus delbrueckii. 61
29310858 2018
14
Coordination geometry of Zn2+ on hexagonal turbostratic birnessites with different Mn average oxidation states and its stability under acid dissolution. 61
29548399 2018
15
Influence of ancillary ligands on preferential geometry and biomimetic catalytic activity in manganese(III)-catecholate systems: A combined experimental and theoretical study. 61
28865745 2017
16
Prognostic factors of maternal near miss events and maternal deaths in a tertiary healthcare facility in India. 61
28500780 2017
17
Boosting Bifunctional Oxygen Electrolysis for N-Doped Carbon via Bimetal Addition. 61
28199051 2017
18
Slow relaxation of the magnetization observed in an antiferromagnetically ordered phase for SCM-based two-dimensional layered compounds. 61
28220925 2017
19
New tetranuclear manganese clusters with [MnMn(III)] and [MnMn] metallic cores exhibiting low and high spin ground state. 61
27010120 2016
20
Construction of a robust pillared-layer framework based on the rare paddlewheel subunit [Mn(μ-O2CR)4L2]: synthesis, crystal structure and magnetic properties. 61
26337030 2015
21
Anion coordination selective [Mn3] and [Mn4] assemblies: synthesis, structural diversity, magnetic properties and catechol oxidase activity. 61
26050820 2015
22
A two-dimensional oxamate- and oxalate-bridged Cu(II)Mn(II) motif: crystal structure and magnetic properties of (Bu4N)2[Mn2{Cu(opba)}2ox]. 61
23855768 2013
23
Ln(III)2Mn(III)2 heterobimetallic "butterfly" complexes displaying antiferromagnetic coupling (Ln = Eu, Gd, Tb, Er). 61
22885927 2012
24
A comparison of two-electron chemistry performed by the manganese and iron heterodimer and homodimers. 61
22083102 2012
25
Effect of hydrogen atoms on the structures of trinuclear metal carbonyl clusters: trinuclear manganese carbonyl hydrides. 61
19371100 2009
26
Single-chain magnet behavior in an alternated one-dimensional assembly of a Mn(III) Schiff-base complex and a TCNQ radical. 61
16892471 2006
27
Structural and functional implications of metal ion selection in aminopeptidase P, a metalloprotease with a dinuclear metal center. 61
16229471 2005
28
Characterization of the active site and insight into the binding mode of the anti-angiogenesis agent fumagillin to the manganese(II)-loaded methionyl aminopeptidase from Escherichia coli. 61
15578241 2005
29
EPR and X-ray crystallographic characterization of the product-bound form of the MnII-loaded methionyl aminopeptidase from Pyrococcus furiosus. 61
15628852 2005
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Variations for Mononeuropathy of the Median Nerve, Mild

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ClinVar genetic disease variations for Mononeuropathy of the Median Nerve, Mild:

6 (show top 50) (show all 538)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SH3TC2 NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) SNV Pathogenic 2482 rs80338933 5:148406435-148406435 5:149026872-149026872
2 SH3TC2 NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) SNV Pathogenic 2482 rs80338933 5:148406435-148406435 5:149026872-149026872
3 SH3TC2 NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) SNV Likely pathogenic 21690 rs80338926 5:148407323-148407323 5:149027760-149027760
4 SH3TC2 NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) SNV Uncertain significance 220296 rs141649676 5:148431777-148431777 5:149052214-149052214
5 SH3TC2 NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) SNV Uncertain significance 188089 rs146920285 5:148384455-148384455 5:149004892-149004892
6 SH3TC2 NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) SNV Uncertain significance 448368 rs144688852 5:148406483-148406483 5:149026920-149026920
7 SH3TC2 NM_024577.3(SH3TC2):c.1105C>T (p.Arg369Cys) SNV Uncertain significance 351915 rs569974719 5:148411147-148411147 5:149031584-149031584
8 SH3TC2 NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) SNV Uncertain significance 157532 rs142451273 5:148386569-148386569 5:149007006-149007006
9 SH3TC2 NM_024577.3(SH3TC2):c.2017G>A (p.Ala673Thr) SNV Uncertain significance 543425 rs201985394 5:148407278-148407278 5:149027715-149027715
10 SH3TC2 NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val) SNV Uncertain significance 546985 rs6874630 5:148407892-148407892 5:149028329-149028329
11 SH3TC2 NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) SNV Uncertain significance 246193 rs575937427 5:148406234-148406234 5:149026671-149026671
12 SH3TC2 NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) SNV Uncertain significance 476899 rs1463859150 5:148406767-148406767 5:149027204-149027204
13 SH3TC2 NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) SNV Uncertain significance 407269 rs147633804 5:148422269-148422269 5:149042706-149042706
14 SH3TC2 NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) SNV Uncertain significance 407264 rs150805608 5:148388479-148388479 5:149008916-149008916
15 SH3TC2 NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) SNV Uncertain significance 220505 rs140829706 5:148406991-148406991 5:149027428-149027428
16 SH3TC2 NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=) SNV Uncertain significance 390930 rs139898175 5:148407528-148407528 5:149027965-149027965
17 SH3TC2 NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met) SNV Uncertain significance 543415 rs757969875 5:148418029-148418029 5:149038466-149038466
18 SH3TC2 NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) SNV Uncertain significance 374659 rs144963732 5:148420221-148420221 5:149040658-149040658
19 SH3TC2 NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) SNV Uncertain significance 219741 rs146162276 5:148431719-148431719 5:149052156-149052156
20 SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) SNV Uncertain significance 2485 rs80359890 5:148422281-148422281 5:149042718-149042718
21 SH3TC2 NM_024577.3(SH3TC2):c.1431G>A (p.Glu477=) SNV Uncertain significance 476884 rs887057321 5:148407864-148407864 5:149028301-149028301
22 SH3TC2 NM_024577.3(SH3TC2):c.3034C>T (p.Arg1012Trp) SNV Uncertain significance 476903 rs541197556 5:148406154-148406154 5:149026591-149026591
23 SH3TC2 NM_024577.4(SH3TC2):c.*21119G>T SNV Uncertain significance 907745 5:148363155-148363155 5:148983592-148983592
24 SH3TC2 NM_024577.3(SH3TC2):c.285C>T (p.Leu95=) SNV Uncertain significance 351921 rs574669908 5:148424196-148424196 5:149044633-149044633
25 SH3TC2 NM_024577.3(SH3TC2):c.2398C>T (p.Leu800Phe) SNV Uncertain significance 351905 rs764616291 5:148406897-148406897 5:149027334-149027334
26 SH3TC2 NM_024577.3(SH3TC2):c.2671G>A (p.Ala891Thr) SNV Uncertain significance 219705 rs779223727 5:148406624-148406624 5:149027061-149027061
27 SH3TC2 NM_024577.3(SH3TC2):c.956G>T (p.Gly319Val) SNV Uncertain significance 351916 rs753423455 5:148417903-148417903 5:149038340-149038340
28 SH3TC2 NM_024577.3(SH3TC2):c.1002-7G>A SNV Uncertain significance 476879 rs752528409 5:148411257-148411257 5:149031694-149031694
29 SH3TC2 NM_024577.3(SH3TC2):c.2305G>A (p.Glu769Lys) SNV Uncertain significance 649013 rs764436192 5:148406990-148406990 5:149027427-149027427
30 SH3TC2 NM_024577.3(SH3TC2):c.280-5C>T SNV Uncertain significance 351922 rs201937366 5:148424206-148424206 5:149044643-149044643
31 SH3TC2 NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser) SNV Uncertain significance 351913 rs201256776 5:148407574-148407574 5:149028011-149028011
32 SH3TC2 NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) SNV Uncertain significance 351918 rs147013935 5:148421161-148421161 5:149041598-149041598
33 SH3TC2 NM_024577.3(SH3TC2):c.1245G>A (p.Gly415=) SNV Uncertain significance 241499 rs748870159 5:148408050-148408050 5:149028487-149028487
34 SH3TC2 NM_024577.4(SH3TC2):c.*1079T>C SNV Uncertain significance 903907 5:148383195-148383195 5:149003632-149003632
35 SH3TC2 NM_024577.4(SH3TC2):c.*12111C>A SNV Uncertain significance 903974 5:148372163-148372163 5:148992600-148992600
36 SH3TC2 NM_024577.4(SH3TC2):c.*12010C>A SNV Uncertain significance 903975 5:148372264-148372264 5:148992701-148992701
37 SH3TC2 NM_024577.4(SH3TC2):c.*12009T>C SNV Uncertain significance 903976 5:148372265-148372265 5:148992702-148992702
38 SH3TC2 NM_024577.4(SH3TC2):c.*11934A>G SNV Uncertain significance 903977 5:148372340-148372340 5:148992777-148992777
39 SH3TC2 NM_024577.4(SH3TC2):c.*574A>C SNV Uncertain significance 903978 5:148383700-148383700 5:149004137-149004137
40 SH3TC2 NM_024577.4(SH3TC2):c.*11299C>G SNV Uncertain significance 904045 5:148372975-148372975 5:148993412-148993412
41 SH3TC2 NM_024577.4(SH3TC2):c.*10672A>C SNV Uncertain significance 904110 5:148373602-148373602 5:148994039-148994039
42 SH3TC2 NM_024577.4(SH3TC2):c.*9026A>T SNV Uncertain significance 904283 5:148375248-148375248 5:148995685-148995685
43 SH3TC2 NM_024577.4(SH3TC2):c.*21087A>G SNV Uncertain significance 904416 5:148363187-148363187 5:148983624-148983624
44 SH3TC2 NM_024577.4(SH3TC2):c.*20966T>G SNV Uncertain significance 904417 5:148363308-148363308 5:148983745-148983745
45 SH3TC2 NM_024577.4(SH3TC2):c.*20935C>G SNV Uncertain significance 904418 5:148363339-148363339 5:148983776-148983776
46 SH3TC2 NM_024577.4(SH3TC2):c.*20135C>T SNV Uncertain significance 904483 5:148364139-148364139 5:148984576-148984576
47 SH3TC2 NM_024577.4(SH3TC2):c.*6627C>T SNV Uncertain significance 904484 5:148377647-148377647 5:148998084-148998084
48 SH3TC2 NM_024577.4(SH3TC2):c.*18471A>G SNV Uncertain significance 904618 5:148365803-148365803 5:148986240-148986240
49 SH3TC2 NM_024577.4(SH3TC2):c.*17049C>G SNV Uncertain significance 904683 5:148367225-148367225 5:148987662-148987662
50 SH3TC2 NM_024577.4(SH3TC2):c.*3993G>C SNV Uncertain significance 904760 5:148380281-148380281 5:149000718-149000718

UniProtKB/Swiss-Prot genetic disease variations for Mononeuropathy of the Median Nerve, Mild:

73
# Symbol AA change Variation ID SNP ID
1 SH3TC2 p.Tyr169His VAR_064421 rs80359890

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Expression for Mononeuropathy of the Median Nerve, Mild

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Search GEO for disease gene expression data for Mononeuropathy of the Median Nerve, Mild.
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Pathways for Mononeuropathy of the Median Nerve, Mild

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GO Terms for Mononeuropathy of the Median Nerve, Mild

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Sources for Mononeuropathy of the Median Nerve, Mild

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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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