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MNMN
MCID: MNN028
MIFTS: 41

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 56 29 13 6 39 71
Carpal Tunnel Syndrome 56 73 71
Mnmn 56 73
Carpal Tunnel Syndrome, Susceptibility to 56
Mononeuropathy of the Median Nerve Mild 73

Characteristics:

OMIM:

56
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 56 613353
MeSH 43 D002349
MedGen 41 C3150596
UMLS 71 C0007286 C3150596
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Summaries for Mononeuropathy of the Median Nerve, Mild

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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 carpal tunnel syndrome and amyloidosis, hereditary, transthyretin-related, 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 tannic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and testes, and related phenotypes are peripheral axonal neuropathy and polyneuropathy

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 416)
# Related Disease Score Top Affiliating Genes
1 carpal tunnel syndrome 13.4
2 amyloidosis, hereditary, transthyretin-related 11.9
3 neuropathy, hereditary, with liability to pressure palsies 11.9
4 paresthesia 11.8
5 peripheral nervous system disease 11.8
6 acromegaly 11.7
7 repetitive motion disorders 11.7
8 overuse syndrome 11.7
9 cumulative trauma disorders 11.7
10 scheie syndrome 11.7
11 mucopolysaccharidosis, type ii 11.7
12 repetitive stress injuries 11.7
13 acromicric dysplasia 11.7
14 mucopolysaccharidosis, type vi 11.7
15 mucopolysaccharidosis, type vii 11.3
16 chromosome 1q21.1 duplication syndrome 11.3
17 macrodactyly of fingers 11.3
18 pinched nerve 11.3
19 neuropathy 11.0
20 tenosynovitis 10.9
21 polyneuropathy 10.9
22 amyloidosis 10.9
23 mononeuropathy 10.8
24 median neuropathy 10.8
25 hypothyroidism 10.8
26 gout 10.7
27 body mass index quantitative trait locus 1 10.7
28 radiculopathy 10.7
29 slowed nerve conduction velocity, autosomal dominant 10.7
30 raynaud phenomenon 10.7
31 mucopolysaccharidosis-plus syndrome 10.7
32 synovitis 10.7
33 ulnar neuropathy 10.6
34 neuromuscular disease 10.6
35 diabetic polyneuropathy 10.6
36 tendinitis 10.5
37 lipomatosis, multiple 10.5
38 pleomorphic lipoma 10.5
39 mucopolysaccharidoses 10.5
40 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
41 arthropathy 10.5
42 nerve compression syndrome 10.5
43 arthritis 10.5
44 47,xyy 10.5
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 rapidly involuting congenital hemangioma 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 peripheral axonal neuropathy 31 HP:0003477
2 polyneuropathy 31 HP:0001271
3 mononeuropathy 31 HP:0009831
4 constrictive median neuropathy 31 HP:0012185

Symptoms via clinical synopsis from OMIM:

56
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

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


seizures, tremor, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness, muscle cramp
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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 182)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
2
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
6
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
7
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
8
Somatostatin Approved, Investigational Phase 4 51110-01-1, 38916-34-6 53481605
9
lanreotide Approved Phase 4 108736-35-2
10
Prilocaine Approved Phase 4 721-50-6 4906
11
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
12
Cefazolin Approved Phase 4 25953-19-9 33255 656510
13
Vancomycin Approved Phase 4 1404-90-6 441141 14969
14
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
15
Racepinephrine Approved Phase 4 329-65-7 838
16
Allantoin Approved Phase 4 97-59-6 204
17
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
18
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
19
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
20
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
21 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
22
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
23
Ibuprofen Approved Phase 4 15687-27-1 3672
24
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
25
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
26
Acetaminophen Approved Phase 4 103-90-2 1983
27
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
28
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
29
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
30
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
31
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
32 Anti-Asthmatic Agents Phase 4
33 Betamethasone Valerate Phase 4 2152-44-5
34 Betamethasone-17,21-dipropionate Phase 4
35 Betamethasone sodium phosphate Phase 4
36 Betamethasone benzoate Phase 4
37 Tranquilizing Agents Phase 4
38 Psychotropic Drugs Phase 4
39 Anti-Anxiety Agents Phase 4
40 Neurotransmitter Agents Phase 4
41 Vitamins Phase 4
42 Vitamin B Complex Phase 4
43 Alpha-lipoic Acid Phase 4
44 Antioxidants Phase 4
45 Thioctic Acid Phase 4
46 Micronutrients Phase 4
47 Nutrients Phase 4
48 Trace Elements Phase 4
49 Vitamin B9 Phase 4
50 Folate 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 Length of Postoperative Dressing After Mini-open Carpal Tunnel Release: A Randomized Prospective Comparison Completed NCT01310218 Phase 4
3 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
4 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
5 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
6 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
7 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
8 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
9 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
10 Circumferential Versus Not Circumferential Distribution of Mepivacaine Around the Median and Ulnar Nerves in the Carpal Tunnel Surgery. Randomized Clinical Trial, Double Blinded. Completed NCT01603680 Phase 4
11 Bupivacaine Versus Lidocaine Local Anesthesia in Elective Outpatient Hand Surgery: A Randomized Controlled Trial Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
12 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
13 Local Steroid Injection vs Wrist Splinting for Carpal Tunnel Syndrome: A Randomized Clinical Trial Completed NCT02140632 Phase 4
14 Effect of Myofascial Release on Electrophysiological and Clinical Measures of Pregnant Women With Carpal Tunnel Syndrome Completed NCT03802448 Phase 4
15 A Multicenter, Open, Prospective, Observational Study to Investigate the Effect of Lanreotide Autogel 120 mg on Control of GH and IGF-I Excess and Tumor Shrinkage in Newly Diagnosed Patients With Acromegaly Completed NCT00627796 Phase 4 Lanreotide-Autogel 120 mg
16 Ultrasound-guided Block of the Brachial Plexus Using Prilocaine: Effects of Local-anesthetic Dose Reduction on Parameters of Block Quality and Adverse Effects in Outpatients Completed NCT01309360 Phase 4 midazolam;prilocaine 1%;prilocaine 1%;prilocaine 1%
17 Examining the Efficacy of Low Intensity Low Frequency Surface Acoustic Wave Ultrasound(LILF/SAWU) in Trigeminal Neuralgia Pain Completed NCT01447108 Phase 4
18 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
19 Endoscopic Carpal Tunnel Release, Infection Incidence, and Prophylactic Antibiotics: Indicated or Kick the Habit? Recruiting NCT03432858 Phase 4 Vancomycin;Cefazolin;Saline Solution
20 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
21 Exparel and Education to Avoid Opioids After Carpal Tunnel Release Recruiting NCT03867539 Phase 4
22 A Randomized, Controlled Trial Comparing Combination Therapy of Ibuprofen + Acetaminophen Versus Hydrocodone + Acetaminophen for the Treatment of Pain After Carpal Tunnel Surgery Recruiting NCT01974609 Phase 4 Narcotic;non-narcotic
23 Pain Reduction Produced by Physiotherapy, Ibuprofen, and the Absence of Treatment, in Carpal Tunnel Syndrome Not yet recruiting NCT04119739 Phase 4 Ibuprofen
24 Comparison of the Efficacy of Corticosteroid Injection and Extracorporeal Shock Wave Therapy (ESWT) in Patients With Carpal Tunnel Syndrome; A Prospective Randomized Controlled Trial Not yet recruiting NCT03792945 Phase 4 local injection
25 Satisfaction With Pain Relief After Carpal Tunnel Release Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
26 A Randomized, Double-blind Controlled Trial of Bupivacaine Extended-release Liposome Injection for Postsurgical Analgesia in Patients Undergoing Open-reduction Internal Fixation of the Distal Radius Terminated NCT02515851 Phase 4 Exparel;Placebo
27 Comparison Results of Carpal Tunnel Release Between Standard Incision and Limited Incision Using PSU Retractor: A Randomized Controlled Trial Unknown status NCT01017471 Phase 3
28 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Unknown status NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
29 The Effect of Pre-operative and/or Post-operative Electrical Stimulation on Enhancing Regeneration of Peripheral Sensory Nerve Regeneration in Human Hand, a Double Blind Randomized Controlled Study. Unknown status NCT03205124 Phase 2, Phase 3
30 Gabapentin for Carpal Tunnel Syndrome: A Randomised Controlled Trial Completed NCT00137735 Phase 3 Gabapentin
31 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
32 Effect of Preoperative Gabapentine for Carpal Tunnel Syndrome Completed NCT01632215 Phase 3 Gabapentine
33 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
34 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
35 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
36 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
37 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%
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 Instiutional Review Board of Chung Shan Medical University Hospital Unknown status NCT00514462 Phase 1, Phase 2
40 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
41 A Prospective, Randomized Trial of Preoperative Lanreotide Treatment in Acromegalic Patients With Macroadenomas Unknown status NCT00993356 Phase 2 Preoperative lanreotide treatment
42 Mechanisms of Neural Mobilization in the Treatment of Chronic Pain Completed NCT00929123 Phase 1, Phase 2
43 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome: a Preliminary Study. Completed NCT00634699 Phase 1, Phase 2
44 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
45 Ultrasound-assisted Percutaneous Release of Carpal Tunnel Syndrome Completed NCT02514317 Phase 2
46 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
47 Efficacy of the Interferential Laser Therapy in Pain Reduction in Carpal Tunnel Syndrome Completed NCT01093209 Phase 2
48 An Open-Label Pilot Study Evaluating Synera® in the Treatment of Patients With Carpal Tunnel Syndrome Completed NCT00991068 Phase 2 Synera (lidocaine 70 mg and tetracaine 70 mg) topical patch
49 Evaluation of Fascial Manipulation for the Conservative Treatment of Carpal Tunnel Syndrome: Double Blind Randomized Clinical Trial, Phase II Completed NCT02495298 Phase 2
50 BOTOX® (Onabotulinumtoxin A) Injection(s) as a Treatment for Carpal Tunnel Syndrome Completed NCT02070302 Phase 2 Botulinum Toxin Type A;Placebo

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

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

40
Brain, Skin, Testes
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Publications for Mononeuropathy of the Median Nerve, Mild

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Articles related to Mononeuropathy of the Median Nerve, Mild:

(show all 27)
# Title Authors PMID Year
1
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 56 6
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
Co-existence of ferro- and antiferromagnetic interactions in a hexanuclear mixed-valence CoMnMn cluster sustained by a multidentate Schiff base ligand. 61
31305843 2019
7
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
8
Extremely Large Non-equilibrium Tunnel Magnetoresistance Ratio in CoRhMnGe Based Magnetic Tunnel Junction by Interface Modification. 61
31508406 2019
9
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
10
Structural, electronic and magnetic properties of MnxGa/Co2MnSi (x = 1, 3) bilayers. 61
30410085 2018
11
Coordination geometry of Zn2+ on hexagonal turbostratic birnessites with different Mn average oxidation states and its stability under acid dissolution. 61
29548399 2018
12
Influence of the metal ion on the enzyme activity and kinetics of PepA from Lactobacillus delbrueckii. 61
29310858 2018
13
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
14
Prognostic factors of maternal near miss events and maternal deaths in a tertiary healthcare facility in India. 61
28500780 2017
15
Boosting Bifunctional Oxygen Electrolysis for N-Doped Carbon via Bimetal Addition. 61
28199051 2017
16
Slow relaxation of the magnetization observed in an antiferromagnetically ordered phase for SCM-based two-dimensional layered compounds. 61
28220925 2017
17
New tetranuclear manganese clusters with [MnMn(III)] and [MnMn] metallic cores exhibiting low and high spin ground state. 61
27010120 2016
18
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
19
Anion coordination selective [Mn3] and [Mn4] assemblies: synthesis, structural diversity, magnetic properties and catechol oxidase activity. 61
26050820 2015
20
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
21
Ln(III)2Mn(III)2 heterobimetallic "butterfly" complexes displaying antiferromagnetic coupling (Ln = Eu, Gd, Tb, Er). 61
22885927 2012
22
A comparison of two-electron chemistry performed by the manganese and iron heterodimer and homodimers. 61
22083102 2012
23
Effect of hydrogen atoms on the structures of trinuclear metal carbonyl clusters: trinuclear manganese carbonyl hydrides. 61
19371100 2009
24
Single-chain magnet behavior in an alternated one-dimensional assembly of a Mn(III) Schiff-base complex and a TCNQ radical. 61
16892471 2006
25
Structural and functional implications of metal ion selection in aminopeptidase P, a metalloprotease with a dinuclear metal center. 61
16229471 2005
26
EPR and X-ray crystallographic characterization of the product-bound form of the MnII-loaded methionyl aminopeptidase from Pyrococcus furiosus. 61
15628852 2005
27
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
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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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SH3TC2 NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter)SNV Pathogenic/Likely pathogenic 2482 rs80338933 5:148406435-148406435 5:149026872-149026872
2 SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His)SNV Conflicting interpretations of pathogenicity 2485 rs80359890 5:148422281-148422281 5:149042718-149042718
3 SH3TC2 NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly)SNV Uncertain significance 246193 rs575937427 5:148406234-148406234 5:149026671-149026671
4 SH3TC2 NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met)SNV Uncertain significance 407269 rs147633804 5:148422269-148422269 5:149042706-149042706
5 SH3TC2 NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val)SNV Uncertain significance 476899 rs1463859150 5:148406767-148406767 5:149027204-149027204

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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
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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