Neuropathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NRP001 MIFTS: 60	Neuropathy Categories: Immune diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Neuropathy

MalaCards integrated aliases for Neuropathy:

Name: Neuropathy ¹² ⁶ ¹⁵ ³⁹ ¹⁷ ⁷¹

Peripheral Neuropathy ¹² ⁷¹

Peripheral Neuropathies ¹⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

Other polyneuropathies

Polyneuropathy, unspecified

External Ids:

Disease Ontology ¹² DOID:870

NCIt ⁵⁰ C4731

SNOMED-CT ⁶⁷ 42658009

ICD10 ³² G62.9

EFO ¹⁷ EFO_0004149

UMLS ⁷¹ C0031117 C0442874

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Summaries for Neuropathy

Disease Ontology : ¹² A nervous system disease that is located in nerves or nerve cells.

MalaCards based summary : Neuropathy, also known as peripheral neuropathy, is related to neuropathy, hereditary, with liability to pressure palsies and neuropathy, congenital hypomyelinating, 1, autosomal recessive, and has symptoms including seizures, tremor and back pain. An important gene associated with Neuropathy is NEFL (Neurofilament Light), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Pregabalin and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include nerves, spinal cord and eye, and related phenotypes are behavior/neurological and cellular

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Related Diseases for Neuropathy

Diseases in the Neuropathy family:

Autoimmune Neuropathy

Hereditary Neuropathies

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

(show top 50) (show all 2741)

#	Related Disease	Score	Top Affiliating Genes
1	neuropathy, hereditary, with liability to pressure palsies	33.7	SPTLC1 PMP22 NEFL MPZ MFN2 GJB1
2	neuropathy, congenital hypomyelinating, 1, autosomal recessive	33.7	SLC12A6 PMP22 PMP2 NEFL MPZ MFN2
3	sensory peripheral neuropathy	33.6	SPTLC1 SLC12A6 PMP22 MPZ MFN2 GJB1
4	hypertrophic neuropathy of dejerine-sottas	33.6	SPTLC1 PMP22 NEFL MPZ MFN2 GJB1
5	neuropathy, hereditary sensory and autonomic, type iia	33.6	WNK1 SPTLC1 SLC12A6 GDAP1
6	peripheral nervous system disease	33.5	SPTLC1 PMP22 PMP2 PEX6 NEFL MPZ
7	charcot-marie-tooth disease	33.4	WNK1 SPTLC1 SLC12A6 PMP22 PMP2 NEFL
8	charcot-marie-tooth disease and deafness	33.4	SPTLC1 SLC12A6 PMP22 PMP2 NEFL MPZ
9	charcot-marie-tooth disease, x-linked dominant, 1	33.4	SPTLC1 PMP22 NEFL MPZ MFN2 GJB1
10	charcot-marie-tooth disease, demyelinating, type 1a	33.3	SPTLC1 PMP22 PMP2 NEFL MPZ MFN2
11	charcot-marie-tooth disease, axonal, type 2e	33.3	SPTLC1 SLC12A6 PMP22 NEFL MPZ MFN2
12	charcot-marie-tooth disease, demyelinating, type 1b	33.2	PMP22 NEFL MPZ MFN2 GJB1 GDAP1
13	hereditary sensory neuropathy	33.2	WNK1 SPTLC1 MPZ
14	optic nerve disease	33.2	NEFL MFN2 GDAP1
15	hereditary neuropathies	33.2	PMP22 MPZ MFN2 LMNA GJB1
16	charcot-marie-tooth disease, axonal, type 2b	33.2	SPTLC1 NEFL MPZ MFN2 GJB1 GDAP1
17	giant axonal neuropathy	33.1	NEFL GAN
18	neuropathy, hereditary sensory and autonomic, type ia	33.1	WNK1 SPTLC1
19	hereditary motor and sensory neuropathy, type iic	33.1	NEFL MPZ MFN2 GJB1 GDAP1
20	charcot-marie-tooth disease, demyelinating, type 1c	33.1	PMP22 NEFL MPZ MFN2 GJB1 GDAP1
21	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	33.1	PMP22 MPZ GJB1
22	neuronopathy, distal hereditary motor, type va	33.0	MFN2 HARS1 GDAP1
23	polyneuropathy	33.0	PMP22 MPZ MFN2 GJB1 GDAP1
24	charcot-marie-tooth disease, axonal, type 2d	33.0	SPTLC1 PMP22 NEFL MPZ MFN2 GJB1
25	axonal neuropathy	32.9	PMP22 NEFL MFN2 LMNA GDAP1 GAN
26	autoimmune peripheral neuropathy	32.9	PMP2 MPZ GJB1
27	charcot-marie-tooth disease, type 4a	32.9	PMP2 MPZ MFN2 GJB1 GDAP1
28	charcot-marie-tooth disease, dominant intermediate a	32.9	MPZ GJB1 GDAP1
29	charcot-marie-tooth disease, type 4d	32.9	MPZ GJB1 GDAP1
30	charcot-marie-tooth disease, axonal, type 2a1	32.9	MPZ MFN2 GDAP1
31	charcot-marie-tooth disease, demyelinating, type 1d	32.9	PMP22 PMP2 MPZ GJB1 GDAP1
32	charcot-marie-tooth disease, type 4b2	32.9	NEFL MPZ GJB1 GDAP1
33	charcot-marie-tooth disease, axonal, type 2b2	32.8	NEFL MPZ MFN2 GDAP1
34	neuropathy, hereditary sensory and autonomic, type v	32.8	WNK1 SPTLC1
35	guillain-barre syndrome	32.8	PMP22 PMP2 MPZ
36	charcot-marie-tooth disease, x-linked recessive, 2	32.8	MPZ MFN2 GJB1
37	charcot-marie-tooth disease, axonal, type 2t	32.8	SLC12A6 GDAP1 GAN
38	charcot-marie-tooth disease, axonal, type 2w	32.8	MPZ HARS1 GJB1 GDAP1
39	motor peripheral neuropathy	32.8	SLC12A6 PMP22 MFN2
40	charcot-marie-tooth disease, axonal, type 2p	32.7	SLC12A6 GDAP1 GAN
41	nerve compression syndrome	32.7	PMP22 MPZ GJB1
42	charcot-marie-tooth disease, axonal, type 2j	32.7	NEFL MPZ GDAP1
43	charcot-marie-tooth disease, axonal, type 2f	32.7	NEFL MPZ MFN2 GJB1 GDAP1
44	charcot-marie-tooth disease, demyelinating, type 1f	32.7	NEFL MPZ GJB1 GDAP1
45	charcot-marie-tooth disease, axonal, type 2b1	32.7	MFN2 LMNA GDAP1
46	charcot-marie-tooth disease, type 4c	32.7	MPZ GJB1 GDAP1
47	charcot-marie-tooth disease, recessive intermediate a	32.6	MFN2 GDAP1
48	brachial plexus neuropathy	32.6	PMP22 MPZ GJB1
49	charcot-marie-tooth disease, axonal, type 2l	32.6	SPTLC1 NEFL MPZ MFN2 GDAP1
50	charcot-marie-tooth disease, dominant intermediate c	32.6	SPTLC1 MPZ GJB1 GDAP1

Graphical network of the top 20 diseases related to Neuropathy:

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Symptoms & Phenotypes for Neuropathy

UMLS symptoms related to Neuropathy:

seizures, tremor, back pain, headache, syncope, hemiparesis, pain, chronic pain, sciatica, vertigo/dizziness, sleeplessness, neuralgia, neurologic symptoms, atypical facial pain

MGI Mouse Phenotypes related to Neuropathy:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.18	AIFM1 GAN GDAP1 GJB1 HFE LMNA
2	cellular	MP:0005384	10.1	AIFM1 DIAPH3 GAN GDAP1 GJB1 GP1BA
3	growth/size/body region	MP:0005378	10.03	AIFM1 DIAPH3 GAN GJB1 HFE IARS2
4	mortality/aging	MP:0010768	9.97	AIFM1 DIAPH3 GAN GJB1 HFE IARS2
5	muscle	MP:0005369	9.5	AIFM1 GAN LMNA MFN2 PMP22 SLC12A6
6	nervous system	MP:0003631	9.5	AIFM1 DIAPH3 GAN GDAP1 GJB1 HFE

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Drugs & Therapeutics for Neuropathy

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

(show top 50) (show all 454)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Pregabalin

Approved, Investigational

Phase 4

148553-50-8

5486971

Acetaminophen

Approved

Phase 4

103-90-2

1983

Tramadol

Approved, Investigational

Phase 4

27203-92-5

33741

Nabilone

Approved, Investigational

Phase 4

51022-71-0

5284592

Mexiletine

Approved, Investigational

Phase 4

31828-71-4

4178

Nortriptyline

Approved

Phase 4

72-69-5

4543

Benzocaine

Approved, Investigational

Phase 4

1994-09-7, 94-09-7

2337

tannic acid

Approved

Phase 4

1401-55-4

Quinapril

Approved, Investigational

Phase 4

85441-61-8

54892

Naloxone

Approved, Vet_approved

Phase 4

465-65-6

5284596

Carbamazepine

Approved, Investigational

Phase 4

298-46-4

2554

4-Aminopyridine

Approved

Phase 4

504-24-5

1727

Levodopa

Approved

Phase 4

59-92-7

6047

Carbidopa

Approved

Phase 4

28860-95-9

34359

Sodium citrate

Approved, Investigational

Phase 4

68-04-2

Bromocriptine

Approved, Investigational

Phase 4

25614-03-3

31101

Cilostazol

Approved, Investigational

Phase 4

73963-72-1

2754

Isoniazid

Approved, Investigational

Phase 4

54-85-3

3767

Amitriptyline

Approved

Phase 4

50-48-6

2160

Memantine

Approved, Investigational

Phase 4

19982-08-2

4054

Topiramate

Approved

Phase 4

97240-79-4

5284627

Lamotrigine

Approved, Investigational

Phase 4

84057-84-1

3878

Pramipexole

Approved, Investigational

Phase 4

104632-26-0

59868 119570

Rotigotine

Approved

Phase 4

99755-59-6, 92206-54-7

57537

Clopidogrel

Approved

Phase 4

120202-66-6, 113665-84-2

60606

Valproic acid

Approved, Investigational

Phase 4

99-66-1

3121

Levetiracetam

Approved

Phase 4

102767-28-2

441341

Sumatriptan

Approved, Investigational

Phase 4

103628-46-2

5358

Zolmitriptan

Approved, Investigational

Phase 4

139264-17-8

441240 60857

Propranolol

Approved, Investigational

Phase 4

525-66-6

4946

Rivastigmine

Approved, Investigational

Phase 4

123441-03-2

77991

Rizatriptan

Approved

Phase 4

144034-80-0, 145202-66-0

5078

Dopamine

Approved

Phase 4

51-61-6, 62-31-7

681

Norepinephrine

Approved

Phase 4

51-41-2

439260

Gabapentin

Approved, Investigational

Phase 4

60142-96-3

3446

Tapentadol

Approved

Phase 4

175591-23-8

9838022

Oxycodone

Approved, Illicit, Investigational

Phase 4

76-42-6

5284603

Donepezil

Approved

Phase 4

120014-06-4

3152

Tadalafil

Approved, Investigational

Phase 4

171596-29-5

110635

Pyridoxal Phosphate

Approved, Investigational, Nutraceutical

Phase 4

54-47-7

1051

Pyridoxine

Approved, Investigational, Nutraceutical, Vet_approved

Phase 4

65-23-6

1054

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 4

77-92-9

311

Narcotics

Phase 4

Analgesics, Opioid

Phase 4

Antipyretics

Phase 4

Antioxidants

Phase 4

Alpha-lipoic Acid

Phase 4

Thioctic Acid

Phase 4

Respiratory System Agents

Phase 4

Vasodilator Agents

Phase 4

Interventional clinical trials:

(show top 50) (show all 1098)

#	Name	Status	NCT ID	Phase	Drugs
1	The Impact of Perioperative Gabapentin on Chronic Groin Pain After Inguinal Hernia Repair	Unknown status	NCT02419443	Phase 4	Gabapentin;Placebo
2	Treatment With Gamunex 10% Intravenous Immunoglobulin (IVIg) for Patients With Demyelination and Diabetes Mellitus: A Blinded, Placebo-Controlled Crossover Pilot Study	Unknown status	NCT02372149	Phase 4	10% intravenous immunoglobulin (IVIg);0.9% sodium chloride
3	Bi-Axial Rotating Magnetic Field Therapy in Refractory Neuropathic Foot Pain Secondary to Diabetic Peripheral Neuropathy. Multi-Center, Randomized Placebo Controlled Trial	Unknown status	NCT00123136	Phase 4
4	The Effects of Omega-3 Fatty Acids on Chemotherapy-induced Neuropathy and Inflammation in Patients With Breast Cancer	Unknown status	NCT01049295	Phase 4
5	Evaluation of the Impact of Subject and Staff Training on the Pregabalin vs. Placebo Difference in Subjects With Painful Diabetic Neuropathy (PDN)	Unknown status	NCT01770964	Phase 4	Pregabalin;placebo
6	An Open-label, Randomized, Multi-center Clinical Trial to Evaluate the Safety and Efficacy in Peripheral Neuropathies Patients Treated With Mecobalamin Injection	Completed	NCT01192113	Phase 4	Mecobalamin IV Injection;Mecobalamin IM injection;Mecobalamin IV or IM injection
7	A Multicenter Trial Evaluating the Safety and Efficacy of Cesamet™ for the Symptomatic Treatment of Chemotherapy-Induced Neuropathic Pain in Patients With Cancer	Completed	NCT00380965	Phase 4	Cesamet™ (nabilone)
8	A 24 Week, Double-blind, Placebo-controlled, Multisite Study of Metanx® in Subjects With Type 2 Diabetic Peripheral Neuropathy (DPN)	Completed	NCT00726713	Phase 4
9	A Phase IV Clinical Trial. Effect of Pulsing Electromagnetic Fields on Lower Extremity Diabetic Neuropathy: A Pilot, Open-Label Study	Completed	NCT00614341	Phase 4
10	Clinical Outcomes for Diabetic Foot Ulcers Treated With Clostridial Collagenase (SANTYL®) Ointment or With a Comparator Product Containing Silver	Completed	NCT02581488	Phase 4
11	Patient Assisted Intervention for Neuropathy: Comparison of Treatment in Real Life Situations (PAIN-CONTRoLS)	Completed	NCT02260388	Phase 4	Nortriptyline;Duloxetine;Pregabalin;Mexiletine
12	Evaluation of a Structured Algorithm for Intrathecal Bolus Doses of Ziconotide (Prialt®)- The Swedish Ziconotide Bolus Study	Completed	NCT01373983	Phase 4	Ziconotide
13	An Open Label Extension Safety Trial of Pregabalin (CI-1008) in Subjects With Diabetic Peripheral Neuropathy	Completed	NCT00159731	Phase 4	Pregabalin
14	A Randomized, Single-dose, Parallel-group Study to Evaluate the Pharmacokinetic Profiles of Two Formulation of Pregabalin in Healthy Volunteers Under Fasting Conditions	Completed	NCT03712475	Phase 4	Pregabalin
15	Neuroprotective Effect of Vitamin B12 and Vitamin B6 Against Vincristine Induced Peripheral Neuropathy: A Randomized, Double Blind, Placebo Controlled, Multi Center Trial	Completed	NCT02923388	Phase 4	Injection Mecobalamin,;Tablet Pyridoxine hydrochloride;Intravenous normal saline 1 ml;Placebo pill
16	A 13 Week, Double-Blind, Placebo-Controlled Phase 4 Trial of Pregabalin (CI-1008, 600 mg/Day) for Relief of Pain in Subjects With Painful Diabetic Peripheral Neuropathy	Completed	NCT00159679	Phase 4	Pregabalin
17	A 14-Week, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study To Evaluate The Safety And Efficacy Of Pregabalin (150mg-600mg/Day) Using A Flexible Optimal Dose Schedule In Patients With Painful Diabetic Peripheral Neuropathy (DPN).	Completed	NCT00156078	Phase 4	pregabalin
18	Efficacy and Safety of Pregabalin in an Open-label, Non-comparative, Flexible-dose Trial With Diabetic Peripheral Neuropathy or Postherpetic Neuralgia	Completed	NCT00629681	Phase 4	Pregabalin
19	Efficacy of Administration of Angiotensin Converting Enzyme Inhibition on Autonomic and Peripheral Neuropathy in Patients With Diabetes Mellitus	Completed	NCT03031834	Phase 4	Quinapril
20	A Multicenter Trial Evaluating the Efficacy of Cesamet™ for the Symptomatic Treatment of Pain in Patients With Diabetic Peripheral Neuropathy	Completed	NCT00380913	Phase 4	Cesamet™ (nabilone)
21	High-dose Vitamin D Supplementation Reduces Inflammation and Improves Microcirculation in Patients With Diabetic Peripheral Neuropathy	Completed	NCT04377399	Phase 4	Vitamin D
22	A Prospective, Open Label, Multi-Center, Study Of Pregabalin In The Treatment Of Neuropathic Pain Associated With Diabetic Peripheral Neuropathy, Postherpetic Neuralgia, HIV-Related Peripheral Neuropathic Pain And Chemotherapy Induced Peripheral Neuropathic Pain	Completed	NCT00407511	Phase 4	Pregabalin
23	A Multicenter, Phase IV, Interventional Study to Assess the Efficacy and Safety of Oxycodone/Naloxone in Korean Patients With Chemotherapy-Induced Peripheral Neuropathy Who Need Opioid Combination Treatment With Existing Pregabalin Treatment	Completed	NCT01675531	Phase 4	Targin
24	The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial.	Completed	NCT01895621	Phase 4
25	Gabapentin as an Adjunct for Pain Management During Dilation and Evacuation: A Double-blind Randomized Controlled Trial	Completed	NCT03635905	Phase 4	Gabapentin;Placebo
26	Dalfampridine Treatment for Nonarteritic Anterior Ischemic Optic Neuropathy (NAION)	Completed	NCT01975324	Phase 4	dalfampridine;Placebo
27	Effect of Levodopa-Carbidopa on Visual Function in Patients With Recent-Onset Nonarteritic Anterior Ischemic Optic Neuropathy	Completed	NCT00432393	Phase 4	levodopa-carbidopa
28	Phase 4 Study of Evaluation of Neural Conduction Along the Visual Pathways Before and After Oral Treatment With Citicoline in Patients With Optic Nerve Diseases	Completed	NCT00404729	Phase 4	Citicoline
29	Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) : Pattern Electroretinography Study	Completed	NCT03046693	Phase 4	Group A Citicoline 1000 mg oral tablet;Group B placebo oral tablet
30	A Randomized, Double-Blind, Placebo-Controlled, Single Center Study Designed to Assess the Effects of Pregabalin on Change in Patients With Diabetic Neuropathy	Completed	NCT00573261	Phase 4	Pregabalin;Placebo
31	An Open-Label, Randomized Comparison of Duloxetine, Pregabalin, and the Combination of Duloxetine and Gabapentin Among Patients With Inadequate Response to Gabapentin for the Management of Diabetic Peripheral Neuropathic Pain	Completed	NCT00385671	Phase 4	duloxetine hydrochloride;pregabalin;gabapentin
32	A Comparison of Strategies for Switching Patients From Amitriptyline to Duloxetine for the Management of Diabetic Peripheral Neuropathic Pain	Completed	NCT00266643	Phase 4	duloxetine hydrochloride
33	An Open Label, Dose Finding Trial of Viagra for the Treatment of Neuropathic Pain (in Diabetes Mellitus)	Completed	NCT00194909	Phase 4	sildenafil (Viagra)
34	Clinical Study for Assessment of the Efficacy of Gabapentin (Carbatin and Neurontin) in Patients With Neuropathy Pain	Completed	NCT02074267	Phase 4	Carbatin;Neurontin
35	Impact of Timed Bromocriptine-QR Therapy Upon Measures of Sympathetic Tone and Vascular Biology in Type 2 Diabetes Subjects	Completed	NCT02682901	Phase 4	Cycloset;Placebo
36	Comparison of the Effectiveness and Safety Between Tramadol 37.5 Mg/Acetaminophen 325mg And Gabapentin for The Treatment of Painful Diabetic Neuropathy: Multicenter, Randomized, Open Comparative Study	Completed	NCT00634543	Phase 4	Tramadol hydrochloride/ Acetaminophen;Gabapentin
37	Comparative Evaluation of Standard Wearing Shoes With Rocker Sole Shoes in Diabetic Patients With Neuropathy	Completed	NCT02891928	Phase 4
38	Treatment With Alpha-lipoic Acid Over 16 Weeks in Type 2 Diabetic Patients With Symptomatic Polyneuropathy Who Responded to Initial 4-week High-dose Loading	Completed	NCT02439879	Phase 4	Alpha lipoic acid
39	Long Term, Double Blind, Randomized, Placebo Controlled Multi-center Study of FRE.M.S.- Frequency Modulated Neural Stimulation Lorenz Therapy™ in Symptomatic Diabetic Neuropathy	Completed	NCT01628627	Phase 4
40	A 12-week, Multi-center, Randomized, Double-blind, Double Dummy, Parallel Clinical Trial to Compare the Efficacy of γ-linolenic Acid and Thioctic Acid in Patients With Diabetic Neuropathy	Completed	NCT03914404	Phase 4	γ-linoleic acid and placebo(Thioctic Acid);Thioctic Acid and placebo(γ-linoleic acid)
41	Efficacy of Pregabalin in Patients With Radicular Pain	Completed	NCT00908375	Phase 4	Pregabalin;Sugar Pill
42	Training "Pain Connoisseurs" for Efficient Analgesic Proof-of-Concept Studies	Completed	NCT02842554	Phase 4	Drug Placebo Administration
43	Maintenance of Effect of Duloxetine 60 mg Once Daily in Patients With Diabetic Peripheral Neuropathic Pain	Completed	NCT00322621	Phase 4	Duloxetine
44	An Open, Multicenter Study on the Efficacy, Safety and Tolerability of Gabapentin, Titrated for Reaching an Effect for the Treatment of the Painful Diabetic Neuropathy	Completed	NCT00644748	Phase 4	gabapentin
45	A 12 Weeks Open Label Two Parallel Groups Study to Assess the Efficacy of Orally Administered Duloxetine 60 mg and 120 mg Per Day on Treatment Outcomes in Patients With Diabetic Peripheral Neuropathic Pain With and Without Co-morbid Major Depressive Disorder. The Primary Objective of This Study is to Evaluate Whether the Efficacy of Duloxetine Given as 60 mg to 120 mg Once Daily (QD), Measured by the BPI Interference Score After 12 Weeks Shows a Clinically Relevant Improvement in the DPNP Patients With Co-morbid MDD	Completed	NCT00844194	Phase 4	Duloxetine 60 mg QD;Duloxetine 60 mg QD;Duloxetine 30 mg QD;Duloxetine 30 mg QD;Duloxetine 90 mg QD;Duloxetine 90 mg QD;Duloxetine 60 mg QD;Duloxetine 60 mg QD;Duloxetine 120 mg QD;Duloxetine 30 mg QD;Duloxetine 30 mg QD;Duloxetine 120 mg QD
46	A Randomized, Double Blind, Placebo Controlled Prospective Study to Evaluate the Effectiveness of Monochromatic Infrared Photo Energy to Improve Diabetic Sensory Neuropathy	Completed	NCT00120341	Phase 4
47	The Effect of α-lipoic Acid Treatment in Patient With Cardiac Autonomic Neuropathy by Comparing the Change of HRV Index & ANS Function:A 6month Multicenter, Randomized, Open Label Clinical Trial CANON Study	Completed	NCT02056366	Phase 4	α-lipoic acid
48	Phase IV Open Non Comparative Trial to Evaluate Efficacy and Safety of Tegretol® in Diabetes Neuropathy Pain.	Completed	NCT01089855	Phase 4	Carbamazepine
49	A Prospective, Open-Label, Multicenter Study of the Effectiveness And Safety Of Lidoderm® As Add-On Treatment in Patients With Postherpetic Neuralgia, Diabetic Neuropathy, or Low Back Pain	Completed	NCT00904020	Phase 4	Lidoderm
50	A Prospective, Open-label Trial of Lidoderm® (Lidocaine Patch 5%)in Painful Diabetic and Idiopathic Neuropathy.	Completed	NCT00903851	Phase 4	Lidoderm

Search NIH Clinical Center for Neuropathy

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Genetic Tests for Neuropathy

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Anatomical Context for Neuropathy

The Foundational Model of Anatomy Ontology organs/tissues related to Neuropathy:

¹⁹

Nerves

MalaCards organs/tissues related to Neuropathy:

⁴⁰

Spinal Cord, Eye, Breast, Bone Marrow, Endothelial, Skin, Colon

Sources

Publications for Neuropathy

Articles related to Neuropathy:

(show top 50) (show all 40627)

#	Title	Authors	PMID	Year
1	Transplantation of engineered exosomes derived from bone marrow mesenchymal stromal cells ameliorate diabetic peripheral neuropathy under electrical stimulation. ⁶¹	Singh A...Kumar A	33553812	2021
2	Prospects for the application of transcranial magnetic stimulation in diabetic neuropathy. ⁶¹	Xu X...Xu DS	33229735	2021
3	The neuroprotective effect of oxytocin on vincristine-induced neurotoxicity in mice. ⁶¹	Zhu J...Liu C	33429010	2021
4	Satellite glia as a critical component of diabetic neuropathy: Role of lipocalin-2 and pyruvate dehydrogenase kinase-2 axis in the dorsal root ganglion. ⁶¹	Bhusal A...Suk K	33251681	2021
5	Diabetic fibrosis. ⁶¹	Tuleta I...Frangogiannis NG	33378699	2021
6	Neuropathy and primary headaches affect different subgroups of inflammatory bowel disease patients. ⁶¹	Leitao AMF...Gondim FAA	32671582	2021
7	Advances in imaging technologies for the assessment of peripheral neuropathies in rheumatoid arthritis. ⁶¹	Gutierrez J...Pineda C	33427917	2021
8	Tofacitinib and Risk of Peripheral Neuropathy? Experience of 2 Cases in Patients With Rheumatoid Arthritis. ⁶¹	Navarro EP...Tobon GJ	30028803	2021
9	Genetic profile and clinical characteristics of Chinese patients with spinocerebellar ataxia type 2: A multicenter experience over 10 years. ⁶¹	Yang L...Wu ZY	33070405	2021
10	Dysthyroid optic neuropathy: evaluation and management. ⁶¹	Dolman PJ	32729049	2021
11	Effects of Chemotherapy-Induced Peripheral Neuropathy in Women With Breast Cancer: A Structural Equation Approach With the Theory of Unpleasant Symptoms. ⁶¹	Kim M...Jung MS	31833921	2021
12	A case of IVIg responsive paraneoplastic SOX1 peripheral neuropathy in a male with breast carcinoma. ⁶¹	Beer R...Blum S	33508769	2021
13	Ultrasound examination predicts 6-month progression in carpal tunnel syndrome patients. ⁶¹	Farias Zuniga A...Keir PJ	33098574	2021
14	Severity of Cardiovascular Autonomic Neuropathy Is a Predictor Associated With Major Adverse Cardiovascular Events in Adults With Type 2 Diabetes Mellitus: A 6-Year Follow-up Study. ⁶¹	Lai YR...Lu CH	33046397	2021
15	High-frequency thermal coagulation to treat middle cluneal nerve entrapment neuropathy. ⁶¹	Fujihara F...Morita A	32415488	2021
16	Long-standing Multifocal Motor Neuropathy Presenting With Delayed Clinical Features of Anti-Myelin-Associated Glycoprotein Neuropathy and Elevated Anti-Myelin-Associated Glycoprotein Antibody Titers. ⁶¹	Bernardo KA...Weiss MD	33596002	2021
17	Esophageal Dysphagia and Recurrent Aspiration From Treatment-Induced Neuropathy of Diabetes in an Adult Patient With Type 1 Diabetes. ⁶¹	Oleynick C...Wilson BJ	33046405	2021
18	Temporal evolution of nerve conduction study abnormalities in anti-myelin-associated glycoprotein neuropathy. ⁶¹	Bourque PR...Breiner A	33290607	2021
19	In-shoe pressure thresholds for people with diabetes and neuropathy at risk of ulceration: A systematic review. ⁶¹	Jones P...Webb D	33280984	2021
20	Acute Axonal Motor Neuropathy With Completely Reversible Conduction Failure-Is It Really Axonal? ⁶¹	Carneiro F...Pereira P	33595999	2021
21	Vertebral Ischemic Necrosis in Diabetic Lumbosacral Radiculoplexus Neuropathy. ⁶¹	Breiner A...Bourque PR	33479158	2021
22	Clinical features of middle cluneal nerve entrapment neuropathy. ⁶¹	Fujihara F...Inoue T	33404869	2021
23	Optic Neuropathy Due to Compression by an Ectatic Internal Carotid Artery Within the Orbital Apex. ⁶¹	Caton MT...Prasad S	32366760	2021
24	Spontaneous Globe Luxation-Induced Optic Neuropathy. ⁶¹	Mammo DA...McClelland CM	32108116	2021
25	Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults. ⁶¹	Kellom E...Wolf B	33364171	2021
26	Patterns of Retinal Ganglion Cell Damage in Nonarteritic Anterior Ischemic Optic Neuropathy Assessed by Swept-Source Optical Coherence Tomography. ⁶¹	Jiang J...Sun X	32868560	2021
27	Is Cataract Surgery a Risk for Developing Nonarteritic Anterior Ischemic Optic Neuropathy? ⁶¹	McCulley TJ...Miller NR	33587535	2021
28	Autoimmune Small Fiber Neuropathy Associated With Ehlers-Danlos Syndrome Treated With Intravenous Immunoglobulins. ⁶¹	Cook MK...Jordan M	33596000	2021
29	Increased peptidergic fibers as a potential cutaneous marker of pain in diabetic small fiber neuropathy. ⁶¹	Karlsson P...Nolano M	32833793	2021
30	Identification of Perinatal Risk Factors for Auditory Neuropathy Spectrum Disorder. ⁶¹	West AN...Peng KA	32609896	2021
31	Reduced Myocardial Uptake of 123I-MIBG in Congenital Insensitivity to Pain With Anhidrosis. ⁶¹	Sasahara M...Harada M	33351513	2021
32	Social Deprivation and Incident Diabetes-Related Foot Disease in Patients With Type 2 Diabetes: A Population-Based Cohort Study. ⁶¹	Riley J...Nirantharakumar K	33483358	2021
33	Compound XiongShao Capsule ameliorates streptozotocin-induced diabetic peripheral neuropathy in rats via inhibiting apoptosis, oxidative - nitrosative stress and advanced glycation end products. ⁶¹	Yu MX...Pan ML	33161027	2021
34	Restricted Diffusion in the Optic Nerve Head After Shock-Induced Anterior Ischemic Optic Neuropathy. ⁶¹	Al Othman BA...Lee AG	32028450	2021
35	Ipsilateral Recurrence of Optic Disc Drusen-Associated Anterior Ischemic Optic Neuropathy in a 15-Year-Old Boy. ⁶¹	Al-Bakri M...Hamann S	32235222	2021
36	Finger drop sign as a new variant of acute motor axonal neuropathy. ⁶¹	Yoon BA...Kim JK	33217007	2021
37	Predictive model of ischemic optic neuropathy in spinal fusion surgery using a longitudinal medical claims database. ⁶¹	Moss HE...Roth S	33248270	2021
38	In the borderland of multifocal motor neuropathy and chronic inflammatory demyelinating polyradiculopathy. ⁶¹	Topakian R...Trenkler J	33074453	2021
39	No pain, still gain (of function): the relation between sensory profiles and the presence or absence of self-reported pain in a large multicenter cohort of patients with neuropathy. ⁶¹	Forstenpointner J...Vollert J	32868752	2021
40	Myelin oligodendrocyte glycoprotein-IgG-positive, steroid-responsive combined central and peripheral demyelination with recurrent peripheral neuropathy. ⁶¹	Nakamura T...Suzuki Y	33078247	2021
41	Motor axonal neuropathy associated with GNE mutations. ⁶¹	Grecu N...Sacconi S	33094863	2021
42	Metabolic syndrome and peripheral neuropathy. ⁶¹	Kazamel M...Smith AG	33098165	2021
43	Visual Outcome Improvement in Tacrolimus-Related Bilateral Optic Neuropathy. ⁶¹	Demontes M...Tilikete C	31842149	2021
44	Sexual dimorphism in the contribution of neuroendocrine stress axes to oxaliplatin-induced painful peripheral neuropathy. ⁶¹	Staurengo-Ferrari L...Levine JD	32947545	2021
45	What is the Best Therapeutic Strategy for Metachronous Resectable Colorectal Liver Metastases After Adjuvant Oxaliplatin-Based Chemotherapy? A Multidisciplinary Inter-Group Survey. ⁶¹	Nassar A...Benoist S	33210163	2021
46	Comprehensive Review of Topical Analgesics for Chronic Pain. ⁶¹	Maloney J...Strand N	33534003	2021
47	Life with chronic pain during COVID-19 lockdown: the case of patients with small fibre neuropathy and chronic migraine. ⁶¹	Consonni M...Lauria G	33205374	2021
48	Systemic lupus erythematosus may have an early effect on peripheral nerve function in patients without clinical or electrophysiological neuropathy: comparison with age- and gender-matched controls. ⁶¹	Fong SY...Goh KJ	32488429	2021
49	Delayed diagnosis of rheumatoid arthritis in an elderly patient presenting with weakness and desolation. ⁶¹	Stiebitz S...Strickler M	33547118	2021
50	Association of Urinary N-Acetyl-β-D-Glucosaminidase with Cardiovascular Autonomic Neuropathy in Type 1 Diabetes Mellitus without Nephropathy. ⁶¹	Choi MS...Kim JH	33517614	2021

Sources

Genes for Neuropathy

Genes related to Neuropathy (5 elite genes):

(show top 50) (show all 191)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NEFL	Neurofilament Light	Protein Coding	449.4	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
2	IARS2	Isoleucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	429.23	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
3	HARS1	Histidyl-TRNA Synthetase 1	Protein Coding	428.48	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
4	HFE	Homeostatic Iron Regulator	Protein Coding	427.99	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
5	PEX6	Peroxisomal Biogenesis Factor 6	Protein Coding	404.12	Pathogenic ⁶ DISEASES inferred ¹⁵
6	DLX6-AS1	DLX6 Antisense RNA 1	RNA Gene	150	Experimental evidence: Regulation ³⁸	16705037
7	GJB1	Gap Junction Protein Beta 1	Protein Coding	57.04	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
8	MPZ	Myelin Protein Zero	Protein Coding	56.46	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
9	PMP2	Peripheral Myelin Protein 2	Protein Coding	55.79	Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Variants (show sections)
10	PMP22	Peripheral Myelin Protein 22	Protein Coding	55.67	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
11	GAN	Gigaxonin	Protein Coding	55.41	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
12	SPTLC1	Serine Palmitoyltransferase Long Chain Base Subunit 1	Protein Coding	54.26	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
13	SLC12A6	Solute Carrier Family 12 Member 6	Protein Coding	53.85	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
14	WNK1	WNK Lysine Deficient Protein Kinase 1	Protein Coding	53.82	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
15	AIFM1	Apoptosis Inducing Factor Mitochondria Associated 1	Protein Coding	51.92	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
16	GDAP1	Ganglioside Induced Differentiation Associated Protein 1	Protein Coding	51.91	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
17	DIAPH3	Diaphanous Related Formin 3	Protein Coding	48.8	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
18	LMNA	Lamin A/C	Protein Coding	48.33	Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
19	MFN2	Mitofusin 2	Protein Coding	46.03	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
20	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	45.15	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Proteins Variants (show sections)
21	SCN11A	Sodium Voltage-Gated Channel Alpha Subunit 11	Protein Coding	44.9	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
22	KIF1A	Kinesin Family Member 1A	Protein Coding	44.75	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
23	NGF	Nerve Growth Factor	Protein Coding	44.65	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
24	PNPLA6	Patatin Like Phospholipase Domain Containing 6	Protein Coding	44.56	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Variants (show sections)
25	SPTLC3	Serine Palmitoyltransferase Long Chain Base Subunit 3	Protein Coding	44.34	Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
26	NGLY1	N-Glycanase 1	Protein Coding	44.08	Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
27	SPTLC2	Serine Palmitoyltransferase Long Chain Base Subunit 2	Protein Coding	43.9	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
28	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	43.89	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Variants (show sections)
29	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	43.81	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
30	TDP1	Tyrosyl-DNA Phosphodiesterase 1	Protein Coding	43.18	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
31	DNMT1	DNA Methyltransferase 1	Protein Coding	43.04	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
32	RETREG1	Reticulophagy Regulator 1	Protein Coding	42.57	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
33	CCT5	Chaperonin Containing TCP1 Subunit 5	Protein Coding	42.01	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
34	ATL3	Atlastin GTPase 3	Protein Coding	41.99	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
35	SLC25A46	Solute Carrier Family 25 Member 46	Protein Coding	41.37	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
36	PRX	Periaxin	Protein Coding	41.15	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
37	HINT1	Histidine Triad Nucleotide Binding Protein 1	Protein Coding	41.07	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
38	CTDP1	CTD Phosphatase Subunit 1	Protein Coding	39.46	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
39	SCN9A	Sodium Voltage-Gated Channel Alpha Subunit 9	Protein Coding	37.26	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
40	SETX	Senataxin	Protein Coding	34.99	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
41	DST	Dystonin	Protein Coding	34.53	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
42	MT-ND6	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6	Protein Coding	33.95	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
43	EGR2	Early Growth Response 2	Protein Coding	33.75	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
44	OTOF	Otoferlin	Protein Coding	33.45	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
45	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	33.26	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
46	GARS1	Glycyl-TRNA Synthetase 1	Protein Coding	33.22	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Gene name Variants (show sections)
47	OPA1	OPA1 Mitochondrial Dynamin Like GTPase	Protein Coding	33.14	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Variants (show sections)
48	TWNK	Twinkle MtDNA Helicase	Protein Coding	32.93	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
49	SOX10	SRY-Box Transcription Factor 10	Protein Coding	32.86	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
50	TRPV4	Transient Receptor Potential Cation Channel Subfamily V Member 4	Protein Coding	32.46	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Variants (show sections)

Sources

Variations for Neuropathy

ClinVar genetic disease variations for Neuropathy:

⁶ (show top 50) (show all 92)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	IARS2	NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu)	SNV	Pathogenic	156553	rs587783070	1:220316451-220316451	1:220143109-220143109
2	HARS1	NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr)	SNV	Pathogenic	804285	rs1131040	5:140057507-140057507	5:140677922-140677922
3	HARS1	NM_002109.6(HARS1):c.730delG	Deletion	Pathogenic	804286	rs1581505917	5:140057005-140057005	5:140677420-140677420
4	PEX6	NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	SNV	Pathogenic	553552	rs267608239	6:42933788-42933788	6:42966050-42966050
5	PEX6	NM_000287.4(PEX6):c.371T>C (p.Leu124Pro)	SNV	Pathogenic	869197		6:42946518-42946518	6:42978780-42978780
6	NEFL	NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)	SNV	Pathogenic	14029	rs28928910	8:24813966-24813966	8:24956452-24956452
7	HFE	NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)	SNV	Pathogenic	9	rs1800562	6:26093141-26093141	6:26092913-26092913
8	LMNA	NM_170707.4(LMNA):c.344A>T (p.Glu115Val)	SNV	Likely pathogenic	200932	rs794728588	1:156085053-156085053	1:156115262-156115262
9	NEFL	NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)	SNV	Likely pathogenic	14029	rs28928910	8:24813966-24813966	8:24956452-24956452
10	NGLY1	NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)	Deletion	Likely pathogenic	548658	rs765211108	3:25770699-25770702	3:25729208-25729211
11	COX6A1	NM_004373.4(COX6A1):c.103+1G>C	SNV	Likely pathogenic	560368	rs377504835	12:120876033-120876033	12:120438230-120438230
12	CHRNG	NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	SNV	Likely pathogenic	397615	rs777219451	2:233405327-233405327	2:232540617-232540617
13	DNAJB5	NM_001135005.3(DNAJB5):c.43C>T (p.Pro15Ser)	SNV	Likely pathogenic	243086	rs774909609	9:34990670-34990670	9:34990673-34990673
14	PMP2	NM_002677.5(PMP2):c.128T>A (p.Ile43Asn)	SNV	Likely pathogenic	243087	rs879253869	8:82357170-82357170	8:81444935-81444935
15	SPTLC3	NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg)	SNV	Likely pathogenic	243088	rs755919784	20:13053048-13053048	20:13072400-13072400
16	MT-ND4	NC_012920.1:m.11896C>G	SNV	Uncertain significance	370054	rs1057516065	MT:11896-11896	MT:11896-11896
17	ABCA4	NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	SNV	Uncertain significance	99113	rs62654397	1:94577093-94577093	1:94111537-94111537
18	MYH14	NM_001145809.2(MYH14):c.1945+6G>A	SNV	Uncertain significance	374064	rs1057518869	19:50756016-50756016	19:50252759-50252759
19	PNPLA6	NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu)	SNV	Uncertain significance	397619	rs372193709	19:7606906-7606906	19:7542020-7542020
20	SPTAN1	NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)	SNV	Uncertain significance	207286	rs574740801	9:131367749-131367749	9:128605470-128605470
21	DYSF	NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile)	SNV	Uncertain significance	288879	rs146064054	2:71762219-71762219	2:71535089-71535089
22	NEB	NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu)	SNV	Uncertain significance	387835	rs367626762	2:152384038-152384038	2:151527524-151527524
23	MKS1	NM_001165927.1(MKS1):c.1577G>A (p.Arg526Gln)	SNV	Uncertain significance	397617	rs746283445	17:56283513-56283513	17:58206152-58206152
24	PRX	NM_020956.2(PRX):c.*2540G>A	SNV	Uncertain significance	397620	rs369505684	19:40901924-40901924	19:40396017-40396017
25	KIFBP	NM_015634.4(KIFBP):c.167_187dup (p.Asp56_Glu62dup)	Duplication	Uncertain significance	397616	rs767103634	10:70748746-70748747	10:68988990-68988991
26	SBF2-AS1	NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del)	Deletion	Uncertain significance	397621	rs750958357	11:9809202-9809204	11:9787655-9787657
27	PHKA1	NM_002637.4(PHKA1):c.1272T>A (p.Asp424Glu)	SNV	Uncertain significance	397618	rs1060499719	X:71870292-71870292	X:72650442-72650442
28	NEB	NM_001271208.2(NEB):c.16637G>A (p.Arg5546His)	SNV	Uncertain significance	257765	rs201111610	2:152435919-152435919	2:151579405-151579405
29	DNM2	NM_001005360.2(DNM2):c.190G>A (p.Val64Ile)	SNV	Uncertain significance	133978	rs144250390	19:10870442-10870442	19:10759766-10759766
30	FLRT1	NM_014067.4(MACROD1):c.517+33243C>G	SNV	Uncertain significance	461796	rs140274429	11:63885468-63885468	11:64117996-64117996
31	FLRT1	NM_014067.4(MACROD1):c.517+34934G>C	SNV	Uncertain significance	461801	rs139768227	11:63883777-63883777	11:64116305-64116305
32	FLRT1	NM_014067.4(MACROD1):c.517+33881C>T	SNV	Uncertain significance	565723	rs767022154	11:63884830-63884830	11:64117358-64117358
33	FLRT1	NM_014067.4(MACROD1):c.517+34196G>A	SNV	Uncertain significance	566239	rs776773158	11:63884515-63884515	11:64117043-64117043
34	FLRT1	NM_014067.4(MACROD1):c.517+33604C>A	SNV	Uncertain significance	566560	rs1395376914	11:63885107-63885107	11:64117635-64117635
35	FLRT1	NM_014067.4(MACROD1):c.517+33719C>T	SNV	Uncertain significance	568577	rs769032516	11:63884992-63884992	11:64117520-64117520
36	FLRT1	NM_014067.4(MACROD1):c.517+34898_517+34918del	Deletion	Uncertain significance	571356	rs1565240655	11:63883793-63883813	11:64116321-64116341
37	FLRT1	NM_014067.4(MACROD1):c.517+33243C>T	SNV	Uncertain significance	575806	rs140274429	11:63885468-63885468	11:64117996-64117996
38	FLRT1	NM_014067.4(MACROD1):c.517+34250T>A	SNV	Uncertain significance	577882	rs1565241569	11:63884461-63884461	11:64116989-64116989
39	FLRT1	NM_014067.4(MACROD1):c.517+34535G>A	SNV	Uncertain significance	579757	rs756250929	11:63884176-63884176	11:64116704-64116704
40	FLRT1	NM_014067.4(MACROD1):c.517+33906T>G	SNV	Uncertain significance	640772	rs1590933528	11:63884805-63884805	11:64117333-64117333
41	FLRT1	NM_014067.4(MACROD1):c.517+34305T>C	SNV	Uncertain significance	643512	rs1590932597	11:63884406-63884406	11:64116934-64116934
42	FLRT1	NM_014067.4(MACROD1):c.517+33198G>A	SNV	Uncertain significance	645543	rs375487485	11:63885513-63885513	11:64118041-64118041
43	FLRT1	NM_014067.4(MACROD1):c.517+34236G>A	SNV	Uncertain significance	647420	rs756527574	11:63884475-63884475	11:64117003-64117003
44	FLRT1	NM_014067.4(MACROD1):c.517+33328C>A	SNV	Uncertain significance	658157	rs1590934834	11:63885383-63885383	11:64117911-64117911
45	KIF24		Deletion	Uncertain significance	243059		9:34280042-34296294	9:34280044-34296296
46	FLRT1	NM_014067.4(MACROD1):c.517+34761C>G	SNV	Uncertain significance	530933	rs777177875	11:63883950-63883950	11:64116478-64116478
47	FLRT1	NM_014067.4(MACROD1):c.517+33591C>T	SNV	Uncertain significance	530934	rs138289564	11:63885120-63885120	11:64117648-64117648
48	FLRT1	NM_014067.4(MACROD1):c.517+34449C>T	SNV	Uncertain significance	530935	rs148012979	11:63884262-63884262	11:64116790-64116790
49	FLRT1	NM_014067.4(MACROD1):c.517+33260C>A	SNV	Uncertain significance	530936	rs143309484	11:63885451-63885451	11:64117979-64117979
50	FLRT1	NM_014067.4(MACROD1):c.517+34743C>T	SNV	Uncertain significance	530937	rs770193280	11:63883968-63883968	11:64116496-64116496

Copy number variations for Neuropathy from CNVD:

⁷

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	107544	17	15900000	22100000	Microdeletion		Neuropathy
2	107574	17	16000000	22200000	Copy number		Neuropathy
3	216423	6	92100000	98700000	Microdeletion	EPHA7	Neuropathy

Sources

Expression for Neuropathy

Search GEO for disease gene expression data for Neuropathy.

Sources

Pathways for Neuropathy

Pathways related to Neuropathy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neural Crest Differentiation ¹	10.81	PMP22 MPZ GJB1

Sources

GO Terms for Neuropathy

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

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial fusion	GO:0008053	8.62	MFN2 GDAP1

Sources

Sources for Neuropathy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia