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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 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 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 tannic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and testes, 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 425)
# Related Disease Score Top Affiliating Genes
1 mononeuropathy 30.4 SH3TC2 LOC114004390
2 charcot-marie-tooth disease 28.8 SH3TC2 LOC114004390
3 carpal tunnel syndrome 13.4
4 amyloidosis, hereditary, transthyretin-related 11.9
5 neuropathy, hereditary, with liability to pressure palsies 11.9
6 paresthesia 11.8
7 peripheral nervous system disease 11.8
8 radiculopathy 11.7
9 acromegaly 11.7
10 repetitive motion disorders 11.7
11 overuse syndrome 11.7
12 cumulative trauma disorders 11.7
13 scheie syndrome 11.7
14 mucopolysaccharidosis, type ii 11.7
15 repetitive stress injuries 11.7
16 acromicric dysplasia 11.7
17 mucopolysaccharidosis, type vi 11.7
18 mucopolysaccharidosis, type vii 11.3
19 chromosome 1q21.1 duplication syndrome 11.3
20 macrodactyly of fingers 11.3
21 neuropathy 11.0
22 tenosynovitis 10.9
23 amyloidosis 10.9
24 polyneuropathy 10.9
25 median neuropathy 10.8
26 hypothyroidism 10.8
27 gout 10.7
28 body mass index quantitative trait locus 1 10.7
29 slowed nerve conduction velocity, autosomal dominant 10.7
30 mucopolysaccharidosis-plus syndrome 10.7
31 plica syndrome 10.7
32 synovitis 10.7
33 raynaud phenomenon 10.7
34 ulnar neuropathy 10.6
35 diabetic polyneuropathy 10.6
36 neuromuscular disease 10.6
37 mucopolysaccharidoses 10.6
38 tendinitis 10.5
39 lipomatosis, multiple 10.5
40 pleomorphic lipoma 10.5
41 arthropathy 10.5
42 nerve compression syndrome 10.5
43 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
44 arthritis 10.5
45 macrodactyly 10.5
46 thoracic outlet syndrome 10.5
47 muscular atrophy 10.5
48 rapidly involuting congenital hemangioma 10.5
49 epicondylitis 10.5
50 47,xyy 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 mononeuropathy 31 HP:0009831
4 peripheral axonal neuropathy 31 HP:0003477

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, headache, syncope, pain, 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 171)
# 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
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
7
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
8
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
9
lanreotide Approved Phase 4 108736-35-2
10
Prilocaine Approved Phase 4 721-50-6 4906
11
Cefazolin Approved Phase 4 25953-19-9 656510 33255
12
Vancomycin Approved Phase 4 1404-90-6 14969 441141
13
Racepinephrine Approved Phase 4 329-65-7 838
14
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
15
Allantoin Approved Phase 4 97-59-6 204
16
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
17
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
18
Ibuprofen Approved Phase 4 15687-27-1 3672
19
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
20
Acetaminophen Approved Phase 4 103-90-2 1983
21
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
22
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
23
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
24
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
25 Anti-Asthmatic Agents Phase 4
26 Betamethasone Valerate Phase 4 2152-44-5
27 Betamethasone-17,21-dipropionate Phase 4
28 Betamethasone sodium phosphate Phase 4
29 Betamethasone benzoate Phase 4
30 Alpha-lipoic Acid Phase 4
31 Vitamins Phase 4
32 Vitamin B Complex Phase 4
33 Antioxidants Phase 4
34 Thioctic Acid Phase 4
35 Micronutrients Phase 4
36 Trace Elements Phase 4
37 Folate Phase 4
38 Nutrients Phase 4
39 Vitamin B9 Phase 4
40 Ketorolac Tromethamine Phase 4
41 retinol Phase 4
42 Retinol palmitate Phase 4
43 Hypnotics and Sedatives Phase 4
44 Angiopeptin Phase 4
45 Anesthetics, General Phase 4
46 GABA Modulators Phase 4
47 Anesthetics, Intravenous Phase 4
48 Neurotransmitter Agents Phase 4
49 Dermatologic Agents Phase 4
50 Ibuprofen arginine Phase 4

Interventional clinical trials:

(show top 50) (show all 292)
# 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 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
9 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
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 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
12 Bupivacaine Versus Lidocaine Local Anesthesia in Elective Outpatient Hand Surgery: A Randomized Controlled Trial Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
13 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
14 Local Steroid Injection vs Wrist Splinting for Carpal Tunnel Syndrome: A Randomized Clinical Trial Completed NCT02140632 Phase 4
15 Effect of Myofascial Release on Electrophysiological and Clinical Measures of Pregnant Women With Carpal Tunnel Syndrome Completed NCT03802448 Phase 4
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 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
18 Examining the Efficacy of Low Intensity Low Frequency Surface Acoustic Wave Ultrasound(LILF/SAWU) in Trigeminal Neuralgia Pain Completed NCT01447108 Phase 4
19 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
20 Endoscopic Carpal Tunnel Release, Infection Incidence, and Prophylactic Antibiotics: Indicated or Kick the Habit? Recruiting NCT03432858 Phase 4 Vancomycin;Cefazolin;Saline Solution
21 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
22 Exparel and Education to Avoid Opioids After Carpal Tunnel Release Recruiting NCT03867539 Phase 4
23 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
24 Oral Gabapentin Versus Control in the Treatment of Carpal Tunnel Syndrome Not yet recruiting NCT04285281 Phase 4 Gabapentin oral capsules
25 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
26 Pain Reduction Produced by Physiotherapy, Ibuprofen, and the Absence of Treatment, in Carpal Tunnel Syndrome Not yet recruiting NCT04119739 Phase 4 Ibuprofen
27 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
28 Satisfaction With Pain Relief After Carpal Tunnel Release Surgery Terminated NCT01588158 Phase 4 Acetaminophen;Vicodin
29 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
30 Comparison Results of Carpal Tunnel Release Between Standard Incision and Limited Incision Using PSU Retractor: A Randomized Controlled Trial Unknown status NCT01017471 Phase 3
31 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Unknown status NCT02870673 Phase 2, Phase 3 SHINCORT;XYLOCAINE
32 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
33 Gabapentin for Carpal Tunnel Syndrome: A Randomised Controlled Trial Completed NCT00137735 Phase 3 Gabapentin
34 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3 betamethasone
35 Effect of Preoperative Gabapentine for Carpal Tunnel Syndrome Completed NCT01632215 Phase 3 Gabapentine
36 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
37 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
38 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
39 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
40 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 Not yet recruiting NCT04253457 Phase 3 1ml of triamcinolone (40mg/1ml)
41 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
42 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%
43 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
44 Instiutional Review Board of Chung Shan Medical University Hospital Unknown status NCT00514462 Phase 1, Phase 2
45 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
46 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
47 A Prospective, Randomized Trial of Preoperative Lanreotide Treatment in Acromegalic Patients With Macroadenomas Unknown status NCT00993356 Phase 2 Preoperative lanreotide treatment
48 Mechanisms of Neural Mobilization in the Treatment of Chronic Pain Completed NCT00929123 Phase 1, Phase 2
49 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome: a Preliminary Study. Completed NCT00634699 Phase 1, Phase 2
50 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, 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

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

40
Brain, Skin, Testes, Breast
Sources

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 (show top 50) (show all 536) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SH3TC2 NM_024577.4(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.645C>T (p.Ser215=)SNV Conflicting interpretations of pathogenicity 130301 rs80227512 5:148421065-148421065 5:149041502-149041502
4 SH3TC2 NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val)SNV Conflicting interpretations of pathogenicity 188089 rs146920285 5:148384455-148384455 5:149004892-149004892
5 SH3TC2 NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His)SNV Conflicting interpretations of pathogenicity 193930 rs143032801 5:148407433-148407433 5:149027870-149027870
6 SH3TC2 NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=)SNV Conflicting interpretations of pathogenicity 215924 rs375970910 5:148389845-148389845 5:149010282-149010282
7 SH3TC2 NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=)SNV Conflicting interpretations of pathogenicity 219968 rs140985600 5:148384328-148384328 5:149004765-149004765
8 SH3TC2 NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=)SNV Conflicting interpretations of pathogenicity 220505 rs140829706 5:148406991-148406991 5:149027428-149027428
9 SH3TC2 NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala)SNV Conflicting interpretations of pathogenicity 219388 rs148634904 5:148421021-148421021 5:149041458-149041458
10 SH3TC2 NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro)SNV Conflicting interpretations of pathogenicity 219741 rs146162276 5:148431719-148431719 5:149052156-149052156
11 SH3TC2 NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala)SNV Conflicting interpretations of pathogenicity 220296 rs141649676 5:148431777-148431777 5:149052214-149052214
12 SH3TC2 NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln)SNV Conflicting interpretations of pathogenicity 234414 rs139192433 5:148388512-148388512 5:149008949-149008949
13 SH3TC2 NM_024577.3(SH3TC2):c.1245G>A (p.Gly415=)SNV Conflicting interpretations of pathogenicity 241499 rs748870159 5:148408050-148408050 5:149028487-149028487
14 SH3TC2 NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu)SNV Conflicting interpretations of pathogenicity 281116 rs200967041 5:148407997-148407997 5:149028434-149028434
15 SH3TC2 NM_024577.3(SH3TC2):c.*21658A>GSNV Conflicting interpretations of pathogenicity 351576 rs145964634 5:148362616-148362616 5:148983053-148983053
16 SH3TC2 NM_024577.4(SH3TC2):c.*3035C>ASNV Conflicting interpretations of pathogenicity 906126 5:148381239-148381239 5:149001676-149001676
17 SH3TC2 NM_024577.4(SH3TC2):c.*3034A>CSNV Conflicting interpretations of pathogenicity 906127 5:148381240-148381240 5:149001677-149001677
18 SH3TC2 NM_024577.4(SH3TC2):c.*1720T>ASNV Conflicting interpretations of pathogenicity 906256 5:148382554-148382554 5:149002991-149002991
19 SH3TC2 NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)SNV Conflicting interpretations of pathogenicity 906543 5:148407788-148407788 5:149028225-149028225
20 SH3TC2 NM_024577.3(SH3TC2):c.*13465C>ASNV Conflicting interpretations of pathogenicity 351670 rs186009343 5:148370809-148370809 5:148991246-148991246
21 SH3TC2 NM_024577.3(SH3TC2):c.*10863C>TSNV Conflicting interpretations of pathogenicity 351704 rs181346624 5:148373411-148373411 5:148993848-148993848
22 SH3TC2 NM_024577.3(SH3TC2):c.*7006T>CSNV Conflicting interpretations of pathogenicity 351777 rs187720692 5:148377268-148377268 5:148997705-148997705
23 SH3TC2 NM_024577.3(SH3TC2):c.*5368C>TSNV Conflicting interpretations of pathogenicity 351810 rs189202481 5:148378906-148378906 5:148999343-148999343
24 SH3TC2 NM_024577.3(SH3TC2):c.*2500C>ASNV Conflicting interpretations of pathogenicity 351852 rs559833500 5:148381774-148381774 5:149002211-149002211
25 SH3TC2 NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=)SNV Conflicting interpretations of pathogenicity 351896 rs144873879 5:148384346-148384346 5:149004783-149004783
26 SH3TC2 NM_024577.3(SH3TC2):c.1002-7G>ASNV Conflicting interpretations of pathogenicity 476879 rs752528409 5:148411257-148411257 5:149031694-149031694
27 SH3TC2 NM_024577.4(SH3TC2):c.660G>C (p.Val220=)SNV Conflicting interpretations of pathogenicity 697396 5:148421050-148421050 5:149041487-149041487
28 SH3TC2 NM_024577.4(SH3TC2):c.*21149A>GSNV Conflicting interpretations of pathogenicity 907744 5:148363125-148363125 5:148983562-148983562
29 SH3TC2 NM_024577.4(SH3TC2):c.*20882A>GSNV Conflicting interpretations of pathogenicity 904419 5:148363392-148363392 5:148983829-148983829
30 SH3TC2 NM_024577.4(SH3TC2):c.*20787G>ASNV Conflicting interpretations of pathogenicity 905216 5:148363487-148363487 5:148983924-148983924
31 SH3TC2 NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val)SNV Conflicting interpretations of pathogenicity 546985 rs6874630 5:148407892-148407892 5:149028329-149028329
32 SH3TC2 NM_024577.4(SH3TC2):c.*15639A>GSNV Conflicting interpretations of pathogenicity 906123 5:148368635-148368635 5:148989072-148989072
33 SH3TC2 NM_024577.4(SH3TC2):c.*11927T>CSNV Conflicting interpretations of pathogenicity 905860 5:148372347-148372347 5:148992784-148992784
34 SH3TC2 NM_024577.4(SH3TC2):c.*11357G>ASNV Conflicting interpretations of pathogenicity 904044 5:148372917-148372917 5:148993354-148993354
35 SH3TC2 NM_024577.4(SH3TC2):c.*11589C>TSNV Conflicting interpretations of pathogenicity 906373 5:148372685-148372685 5:148993122-148993122
36 SH3TC2 NM_024577.4(SH3TC2):c.*9872T>CSNV Conflicting interpretations of pathogenicity 904226 5:148374402-148374402 5:148994839-148994839
37 SH3TC2 NM_024577.4(SH3TC2):c.*7917A>GSNV Conflicting interpretations of pathogenicity 906744 5:148376357-148376357 5:148996794-148996794
38 SH3TC2 NM_024577.4(SH3TC2):c.*5277G>TSNV Conflicting interpretations of pathogenicity 905411 5:148378997-148378997 5:148999434-148999434
39 SH3TC2 NM_024577.3(SH3TC2):c.*14827T>ASNV Conflicting interpretations of pathogenicity 351659 rs569378409 5:148369447-148369447 5:148989884-148989884
40 SH3TC2 NM_024577.3(SH3TC2):c.*6392C>ASNV Conflicting interpretations of pathogenicity 351790 rs114817736 5:148377882-148377882 5:148998319-148998319
41 SH3TC2 NM_024577.3(SH3TC2):c.*5689A>CSNV Conflicting interpretations of pathogenicity 351804 rs537285537 5:148378585-148378585 5:148999022-148999022
42 SH3TC2 NM_024577.3(SH3TC2):c.*3058A>GSNV Conflicting interpretations of pathogenicity 351845 rs563916447 5:148381216-148381216 5:149001653-149001653
43 SH3TC2 NM_024577.3(SH3TC2):c.*19406A>GSNV Conflicting interpretations of pathogenicity 351600 rs72835351 5:148364868-148364868 5:148985305-148985305
44 SH3TC2 NM_024577.3(SH3TC2):c.*16257T>CSNV Conflicting interpretations of pathogenicity 351640 rs572081330 5:148368017-148368017 5:148988454-148988454
45 SH3TC2 NM_024577.3(SH3TC2):c.*10864G>ASNV Conflicting interpretations of pathogenicity 351703 rs189701174 5:148373410-148373410 5:148993847-148993847
46 SH3TC2 NM_024577.3(SH3TC2):c.*20773G>TSNV Conflicting interpretations of pathogenicity 351584 rs113020040 5:148363501-148363501 5:148983938-148983938
47 SH3TC2 NM_024577.3(SH3TC2):c.*882G>ASNV Conflicting interpretations of pathogenicity 351875 rs775429372 5:148383392-148383392 5:149003829-149003829
48 SH3TC2 NM_024577.3(SH3TC2):c.*15235A>GSNV Conflicting interpretations of pathogenicity 351652 rs145210501 5:148369039-148369039 5:148989476-148989476
49 SH3TC2 NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp)SNV Conflicting interpretations of pathogenicity 351908 rs537049075 5:148407353-148407353 5:149027790-149027790
50 SH3TC2 NM_024577.3(SH3TC2):c.*13598A>GSNV Conflicting interpretations of pathogenicity 351668 rs141011337 5:148370676-148370676 5:148991113-148991113

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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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
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45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
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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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