GDAP1

Summary

GDAP1 (ganglioside induced differentiation associated protein 1, HGNC:15968) is a protein-coding gene on chromosome 8q21.11, encoding Ganglioside-induced differentiation-associated protein 1 (Q8TB36). Regulates the mitochondrial network by promoting mitochondrial fission.

This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene.

Source: NCBI Gene 54332 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Charcot-Marie-Tooth disease (Definitive, ClinGen) — +5 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 611 total — 50 pathogenic, 32 likely-pathogenic
• Phenotypes (HPO): 99
• MANE Select transcript: NM_018972

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15968
Approved symbol	GDAP1
Name	ganglioside induced differentiation associated protein 1
Location	8q21.11
Locus type	gene with protein product
Status	Approved
Aliases	CMT4, CMT2K
Ensembl gene	ENSG00000104381
Ensembl biotype	protein_coding
OMIM	606598
Entrez	54332

Gene structure

Transcript identifiers

Ensembl transcripts: 53 — 26 protein_coding, 19 nonsense_mediated_decay, 5 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000220822, ENST00000434412, ENST00000520797, ENST00000521096, ENST00000522568, ENST00000523640, ENST00000524195, ENST00000524366, ENST00000674612, ENST00000674710, ENST00000674754, ENST00000674756, ENST00000674806, ENST00000674865, ENST00000674926, ENST00000674934, ENST00000674944, ENST00000674946, ENST00000674973, ENST00000675007, ENST00000675060, ENST00000675165, ENST00000675220, ENST00000675265, ENST00000675336, ENST00000675376, ENST00000675460, ENST00000675463, ENST00000675472, ENST00000675474, ENST00000675560, ENST00000675565, ENST00000675625, ENST00000675633, ENST00000675661, ENST00000675706, ENST00000675821, ENST00000675832, ENST00000675928, ENST00000675944, ENST00000675999, ENST00000676049, ENST00000676112, ENST00000676120, ENST00000676143, ENST00000676207, ENST00000676354, ENST00000676377, ENST00000676415, ENST00000676443, ENST00000879761, ENST00000937477, ENST00000937478

RefSeq mRNA: 6 — MANE Select: NM_018972 NM_001040875, NM_001362929, NM_001362930, NM_001362931, NM_001362932, NM_018972

CCDS: CCDS34911, CCDS47877, CCDS94317, CCDS94318, CCDS94319

Canonical transcript exons

ENST00000220822 — 6 exons

Exon	Start	End
ENSE00000819699	74363985	74366876
ENSE00001376753	74350403	74350578
ENSE00003501168	74362939	74363053
ENSE00003537393	74351274	74351466
ENSE00003623578	74361884	74361978
ENSE00003654845	74360137	74360310

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 99.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5886 / max 287.0723, expressed in 1590 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
89405	11.8393	1575
89404	0.2822	134
89407	0.2446	83
89400	0.1182	52
89401	0.0588	26
205227	0.0150	10
89402	0.0147	4
89403	0.0089	3
89406	0.0068	3

Top tissues by expression

284 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.03	gold quality
secondary oocyte	CL:0000655	98.99	gold quality
oocyte	CL:0000023	98.98	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.85	gold quality
cerebellar vermis	UBERON:0004720	97.43	gold quality
postcentral gyrus	UBERON:0002581	97.31	gold quality
entorhinal cortex	UBERON:0002728	97.19	gold quality
parietal lobe	UBERON:0001872	96.93	gold quality
pons	UBERON:0000988	96.87	gold quality
middle temporal gyrus	UBERON:0002771	96.80	gold quality
substantia nigra pars compacta	UBERON:0001965	96.66	gold quality
superior frontal gyrus	UBERON:0002661	96.31	gold quality
primary visual cortex	UBERON:0002436	96.19	gold quality
superior vestibular nucleus	UBERON:0007227	96.18	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.78	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.77	gold quality
occipital lobe	UBERON:0002021	94.75	gold quality
lateral globus pallidus	UBERON:0002476	94.09	gold quality
prefrontal cortex	UBERON:0000451	93.89	gold quality
cortical plate	UBERON:0005343	93.67	gold quality
ganglionic eminence	UBERON:0004023	93.52	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.42	gold quality
temporal lobe	UBERON:0001871	93.36	gold quality
medial globus pallidus	UBERON:0002477	92.97	gold quality
anterior cingulate cortex	UBERON:0009835	92.88	gold quality
neocortex	UBERON:0001950	92.81	gold quality
dorsal root ganglion	UBERON:0000044	92.76	gold quality
frontal cortex	UBERON:0001870	92.76	gold quality
frontal lobe	UBERON:0016525	92.76	gold quality
cerebral cortex	UBERON:0000956	92.75	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.74

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): YY1

miRNA regulators (miRDB)

110 targeting GDAP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-6835-3P	99.93	70.49	2904

Literature-anchored findings (GeneRIF, showing 40)

• Mutations in GDAP1 are a frequent cause of autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A (PMID:12499475)
• This study shows the variability of the phenotype associated with mutations in GDAP1 gene in terms of associated signs and severity of Charcot-Marie-Tooth disease. (PMID:12868504)
• This study detected six distinct mutant alleles in four families, four of which are novel. (PMID:14561495)
• Genetic analysis revealed a homozygous thymidine deletion at nucleotide position 558 resulting in a frameshift at codon 186 and a stop codon at position 205. (PMID:15019704)
• may be related to the maintenance of the mitochondrial network (PMID:15772096)
• In this study we report a novel mutation Met116Thr in the GDAP1 gene identified in a three generation Polish family with axonal CMT4. (PMID:16343542)
• The patient of Charcot-Marie-Tooth with pyramidal feature has GDAP1 mutation(M116R). (PMID:16607474)
• Like other cytosolic GSTs, GDAP1 protein has a dimeric structure. deletion of C-terminal transmembrane domain allowed preparation of soluble protein. purified protein was assayed for glutathione-dependent activity against a library of GST substrates. (PMID:16857173)
• Two different point mutations, a novel R191X nonsense and a L239F missense mutation were detected in the GDAP1 gene causing Charcot-Marie-Tooth neurpathy. (PMID:17433678)
• A novel C233T transversion at codon 78 (P78L) was detected in 6 patients from 3 unrelated families. (PMID:18062449)
• A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. (PMID:18231710)
• A novel Pro153Leu mutation in the GDAP1 gene identified in a consanguineous Polish family as cause of Charcot-Marie-Tooth disease type 4C4. (PMID:18421898)
• a novel GDAP1 mutation in an Old Order Amish family with autosomal recessive Charcot-Marie-Tooth disease. (PMID:18492089)
• Data show that the mutations in the GDAP1 gene are a common cause of early-onset Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT). (PMID:18504680)
• clinical, electrophysiologic & genetic study of 2 patients with missense GDAP1 mutations with severe neuropathy; 1 mutation (Tyr279Cys) has not been reported before; despite similitude of mutations & electromyography, clinical course was different (PMID:18991200)
• Data suggest that besides the regulatory role GDAP1 plays in mitochondrial network dynamics, it may also be involved in energy production and in the control of mitochondrial volume. (PMID:19089472)
• this GDAP1 region contains critical overlapping motifs defining intracellular targeting by the tail anchor domain concomitant with functional aspects (PMID:19340293)
• Data report a novel missense mutation and two polymorphisms in the ganglioside-induced differentiation-associated protein 1 gene identified in a five generation Turkish family with autosomal recessive Charcot-Marie-Tooth type 2. (PMID:19381883)
• GDAP1 mutations should be considered both in recessive and sporadic cases of early-onset axonal Charcot-Marie-Tooth disease (PMID:19500985)
• GDAP1 is broadly expressed in cancer cell lines of different tissue origin. There is a consensus YY1 binding site in the GDAP1 core promoter. (PMID:19720140)
• different cellular mechanisms that disturb mitochondrial dynamics underlie the similar clinical manifestations caused by GDAP1 mutations, depending on the mode of inheritance (PMID:19782751)
• Thirty sequence variants have been found in the analysed genes from patients with Charcot-Marie-Tooth disorders: 5 pathogenic mutations in the GDAP1 gene and 2 pathogenic mutations in the PRX gene. (PMID:19837996)
• Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype associated with the third recurrent GDAP1 mutation having a common origin in European population was characterized. (PMID:20232219)
• A mutations frquency of 27% in the GST domain of GDAP1 in the dominant form of axonal Charcot Marie Tooth type 2K was observed. (PMID:20685671)
• This review provide that Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. (PMID:20849849)
• An p.R120W mutation has been identified in GDAP1 causing autosomal dominant Charcot-Marie-Tooth disease with a wide clinical profile. (PMID:21199105)
• Clinical outcome of Charcot-Marie-Tooth disease caused by mutations in the GDAP1 gene cannot be predicted solely on the basis of genetic results (missense/nonsense mutations). (PMID:21365284)
• we report two recessive intermediate Charcot-Marie-Tooth (RI-CMT) patients with GDAP1 missense mutations (PMID:21692914)
• We show that patients with dominant GDAP1 mutations may display clear axonal Charcot-Marie-Tooth disease (PMID:21753178)
• Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells (PMID:21890626)
• Patients of type 4 Charcot-Marie-Tooth disease showed reduced GDAP1 levels, GHS concentration and mitochondrial membrane potential. (PMID:21965300)
• A French family with Charcot-Marie-Tooth disease is related to simultaneous heterozygous MFN2 and GDAP1 mutations. (PMID:22546700)
• A novel heterozygous missense mutation (Arg120Gly) in the GDAP1 gene co-segregates with the disease within the pedigree of an Italian Charcot-Marie-Tooth disease type 2 (CMT2) family. (PMID:22971097)
• This study suggested that the mutation of GDAP1 cased onion bulb-like formations of schwann cell in peripheral neuropathies. (PMID:23147504)
• GDAP1-associated polyneuropathy caused predominantly a mild and slowly progressive phenotype. (PMID:23456260)
• This studies suggest that the pathophysiology of GDAP1-related CMT neuropathies may be associated with abnormal distribution and movement of mitochondria throughout cytoskeleton towards the ER and subplasmalemmal microdomains. (PMID:23542510)
• GDAP1 regulates mitochondrial and peroxisomal fission by a similar mechanism. (PMID:23628762)
• Results show that JPH1 and GDAP1 share a common pathway and depend on each other; therefore, JPH1 can contribute to the phenotypical consequences of GDAP1 mutations. (PMID:25168384)
• study reports on 2 Charcot-Marie-Tooth (CMT) families in which a newly identified Glu222Lys mutation within the GDAP1 gene segregates both in autosomal dominant and recessive traits (PMID:25337607)
• The novelty of our data is the relatively high frequency of SH3TC2 and GDAP1 mutations in demyelinating and axonal forms, respectively, of Charcot-Marie-Tooth disease (PMID:25429913)

Cross-species orthologs

34 orthologs

Organism	Symbol	Gene ID
danio_rerio	gdap1	ENSDARG00000058601
mus_musculus	Gdap1	ENSMUSG00000025777
rattus_norvegicus	Gdap1	ENSRNOG00000005850
drosophila_melanogaster	GstD1	FBGN0001149
drosophila_melanogaster	GstD2	FBGN0010038
drosophila_melanogaster	GstD3	FBGN0010039
drosophila_melanogaster	GstD4	FBGN0010040
drosophila_melanogaster	GstD5	FBGN0010041
drosophila_melanogaster	GstD6	FBGN0010042
drosophila_melanogaster	GstD7	FBGN0010043
drosophila_melanogaster	GstD8	FBGN0010044
drosophila_melanogaster	GstE12	FBGN0027590
drosophila_melanogaster	Clic	FBGN0030529
drosophila_melanogaster	GstT3	FBGN0031117
drosophila_melanogaster	GstE13	FBGN0033381
drosophila_melanogaster	GstE1	FBGN0034335
drosophila_melanogaster	GstE11	FBGN0034354
drosophila_melanogaster	GstD9	FBGN0038020
drosophila_melanogaster	GstD10	FBGN0042206
drosophila_melanogaster	GstT1	FBGN0050000
drosophila_melanogaster	GstT2	FBGN0050005
drosophila_melanogaster	GstE9	FBGN0063491
drosophila_melanogaster	GstE8	FBGN0063492
drosophila_melanogaster	GstE7	FBGN0063493
drosophila_melanogaster	GstE6	FBGN0063494
drosophila_melanogaster	GstE5	FBGN0063495
drosophila_melanogaster	GstE4	FBGN0063496
drosophila_melanogaster	GstE3	FBGN0063497
drosophila_melanogaster	GstE2	FBGN0063498
drosophila_melanogaster	GstE10	FBGN0063499
caenorhabditis_elegans	exc-4	WBGENE00001365
caenorhabditis_elegans		WBGENE00001371
caenorhabditis_elegans	gst-43	WBGENE00001791
caenorhabditis_elegans		WBGENE00021817

Paralogs (14): GSTO2 (ENSG00000065621), GSTT2 (ENSG00000099984), GSTZ1 (ENSG00000100577), CLIC5 (ENSG00000112782), GDAP1L1 (ENSG00000124194), GSTT2B (ENSG00000133433), GSTO1 (ENSG00000148834), CLIC2 (ENSG00000155962), CLIC6 (ENSG00000159212), CLIC4 (ENSG00000169504), CLIC3 (ENSG00000169583), CLIC1 (ENSG00000213719), EEF1G (ENSG00000254772), GSTT4 (ENSG00000276950)

Protein

Protein identifiers

Ganglioside-induced differentiation-associated protein 1 — Q8TB36 (reviewed: Q8TB36)

All UniProt accessions (24): Q8TB36, A0A6Q8PEX8, A0A6Q8PEZ4, A0A6Q8PF20, A0A6Q8PFF4, A0A6Q8PFG4, A0A6Q8PFP5, A0A6Q8PFU1, A0A6Q8PFX7, A0A6Q8PFZ0, A0A6Q8PG78, A0A6Q8PGB8, A0A6Q8PGL3, A0A6Q8PGQ9, A0A6Q8PGS2, A0A6Q8PGU0, A0A6Q8PH79, A0A6Q8PH88, A0A6Q8PH97, A0A6Q8PHC1, A0A6Q8PHN7, A0A7I2RYU0, B4DIH2, E5RGI2

UniProt curated annotations — full annotation on UniProt →

Function. Regulates the mitochondrial network by promoting mitochondrial fission.

Subunit / interactions. Homodimer.

Subcellular location. Mitochondrion outer membrane. Cytoplasm.

Tissue specificity. Highly expressed in whole brain and spinal cord. Predominant expression in central tissues of the nervous system not only in neurons but also in Schwann cells.

Post-translational modifications. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.

Disease relevance. Charcot-Marie-Tooth disease, demyelinating, type 4A (CMT4A) [MIM:214400] A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence. The disease is caused by variants affecting the gene represented in this entry. Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) [MIM:607706] A form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The disease is caused by variants affecting the gene represented in this entry. Charcot-Marie-Tooth disease, axonal, type 2K (CMT2K) [MIM:607831] An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive. The disease is caused by variants affecting the gene represented in this entry. Charcot-Marie-Tooth disease, recessive intermediate A (CMTRIA) [MIM:608340] A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the GST superfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TB36-1	1	yes
Q8TB36-2	2

RefSeq proteins (6): NP_001035808, NP_001349858, NP_001349859, NP_001349860, NP_001349861, NP_061845* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004045	Glutathione_S-Trfase_N	Domain
IPR010987	Glutathione-S-Trfase_C-like	Domain
IPR034336	GST_C_GDAP1	Domain
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR036282	Glutathione-S-Trfase_C_sf	Homologous_superfamily
IPR040079	Glutathione_S-Trfase	Family

Pfam: PF13410, PF13417

UniProt features (63 total): sequence variant 16, helix 12, cross-link 9, strand 7, sequence conflict 6, turn 3, transmembrane region 2, domain 2, mutagenesis site 2, chain 1, splice variant 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
8A4K	X-RAY DIFFRACTION	1.95
7AIA	X-RAY DIFFRACTION	2.2
7Q6J	X-RAY DIFFRACTION	2.2
8A4J	X-RAY DIFFRACTION	2.68
7ALM	X-RAY DIFFRACTION	2.8
7B2G	X-RAY DIFFRACTION	3
7YWD	X-RAY DIFFRACTION	3.2
7Q6K	X-RAY DIFFRACTION	3.41

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TB36-F1	87.68	0.69

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (10): 188, 190, 203, 206, 207, 214, 203, 50, 172, 173

Mutagenesis-validated functional residues (2):

Position	Phenotype
116	impairment in the ability to induce mitochondrial fragmentation.
157	no effect on mitochondrial localization.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9603798	Class I peroxisomal membrane protein import

MSigDB gene sets: 292 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIPID, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, PATIL_LIVER_CANCER, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, GOBP_ORGANELLE_FISSION, GOBP_MITOCHONDRIAL_FISSION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOCC_MITOCHONDRIAL_ENVELOPE, GARY_CD5_TARGETS_DN, NIKOLSKY_BREAST_CANCER_8Q12_Q22_AMPLICON, GOBP_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_NUTRIENT

GO Biological Process (5): mitochondrial fission (GO:0000266), obsolete protein targeting to mitochondrion (GO:0006626), mitochondrial fusion (GO:0008053), response to retinoic acid (GO:0032526), cellular response to vitamin D (GO:0071305)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), peroxisomal membrane (GO:0005778), cytosol (GO:0005829), membrane (GO:0016020), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
mitochondrion organization	2
intracellular membrane-bounded organelle	2
cytoplasm	2
organelle fission	1
organelle fusion	1
response to lipid	1
response to oxygen-containing compound	1
response to vitamin D	1
cellular response to vitamin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
binding	1
mitochondrial membrane	1
organelle outer membrane	1
peroxisome	1
microbody membrane	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1046 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GDAP1	MFN2	O95140	923
GDAP1	MFN1	Q8IWA4	884
GDAP1	RNMT	O43148	880
GDAP1	MPZL1	O95297	841
GDAP1	PMP2	P02689	834
GDAP1	SH3TC2	Q8TF17	801
GDAP1	ST8SIA1	Q92185	769
GDAP1	RAB6B	Q9NRW1	769
GDAP1	SBF2	Q86WG5	742
GDAP1	GJB1	P08034	720
GDAP1	MTMR2	Q13614	720
GDAP1	IGHMBP2	P38935	710
GDAP1	FIS1	Q9Y3D6	702
GDAP1	FGD4	Q96M96	682
GDAP1	MFF	Q9GZY8	636

IntAct

152 interactions, top by confidence:

A	B	Type	Score
TCTN2	CLGN	psi-mi:“MI:0914”(association)	0.780
TUBA1C	TXNDC9	psi-mi:“MI:0914”(association)	0.730
SLC1A1	AGPAT2	psi-mi:“MI:0914”(association)	0.640
GDAP1	DCBLD2	psi-mi:“MI:0915”(physical association)	0.560
FAM114A1	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
PNLIPRP1	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
ABHD16A	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
APOD	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	STARD4	psi-mi:“MI:0915”(physical association)	0.560
TMEM218	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
CLCN7	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	BIRC5	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	BOK	psi-mi:“MI:0915”(physical association)	0.560
HOXC4	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	MAP3K5	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	MSH5	psi-mi:“MI:0915”(physical association)	0.560
PIK3R1	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	SMN1	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	SNX2	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	CLPP	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	TAGLN2	psi-mi:“MI:0915”(physical association)	0.560
IQSEC1	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	OPTN	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	BAIAP2	psi-mi:“MI:0915”(physical association)	0.560
DDX20	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC17	GDAP1	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	ZNF638	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	AAMDC	psi-mi:“MI:0915”(physical association)	0.560
GDAP1	SCAPER	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (51): GDAP1 (Affinity Capture-RNA), GDAP1 (Affinity Capture-RNA), GDAP1 (Affinity Capture-MS), GDAP1 (Affinity Capture-MS), GDAP1 (Affinity Capture-MS), GDAP1 (Affinity Capture-MS), GDAP1 (Affinity Capture-MS), GDAP1 (Affinity Capture-MS), GDAP1 (Affinity Capture-RNA), GDAP1 (Affinity Capture-MS), GDAP1 (Affinity Capture-MS), GDAP1 (Two-hybrid), GDAP1 (Two-hybrid), TMEM14B (Two-hybrid), TMEM218 (Two-hybrid)

ESM2 similar proteins: A0A1W2PR19, A6QQZ0, O09131, O65857, O76483, O88741, P09488, P0CG29, P0CG30, P21266, P28161, P28342, P30109, P30568, P30713, P42760, P46409, P46430, P46439, P46440, P48774, P57108, P78417, Q01579, Q03013, Q03425, Q03662, Q4V8E6, Q5BK56, Q5R8E8, Q61133, Q64471, Q84TK0, Q8R5I6, Q8TB36, Q9BEA9, Q9BEB0, Q9C6C8, Q9D4P7, Q9FE46

Diamond homologs: A6QQZ0, O88741, P04907, P28342, P57108, Q03425, Q8TB36, Q8VE33, Q96MZ0, Q9ZVQ3, Q9ZVQ4, A0A6J4B5J2, A2Q127, B3FWR8, O04437, O65857, O77462, O77473, O80852, O82451, O86043, P0A9D2, P0A9D3, P12653, P15214, P29694, P30109, P30110, P30111, P30347, P42760, P42761, P42769, P43387, P44521, P45207, P45875, P46420, P46422, P46423

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
YY1	“up-regulates quantity by expression”	GDAP1	“transcriptional regulation”
GDAP1	up-regulates	Mitochondrial_fission

Disease & clinical

Clinical variants and AI predictions

ClinVar

611 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	50
Likely pathogenic	32
Uncertain significance	292
Likely benign	126
Benign	43

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069226	NM_018972.4(GDAP1):c.361del (p.Val121fs)	Pathogenic
1069651	NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter)	Pathogenic
1071208	NM_018972.4(GDAP1):c.235_239del (p.Val79fs)	Pathogenic
1072856	NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter)	Pathogenic
1076570	NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter)	Pathogenic
1408842	NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter)	Pathogenic
1452369	NM_018972.4(GDAP1):c.250del (p.Glu84fs)	Pathogenic
1455723	NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter)	Pathogenic
1456646	NC_000008.10:g.(?75262697)(75276602_?)del	Pathogenic
1457963	NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp)	Pathogenic
1458809	NM_018972.4(GDAP1):c.27_28del (p.Gly10fs)	Pathogenic
2028969	NM_018972.4(GDAP1):c.934del (p.Ala312fs)	Pathogenic
2089246	NM_018972.4(GDAP1):c.367del (p.His123fs)	Pathogenic
2099188	NM_018972.4(GDAP1):c.549del (p.Ala184fs)	Pathogenic
217229	NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)	Pathogenic
2176526	NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)	Pathogenic
220379	NM_018972.4(GDAP1):c.579+1G>A	Pathogenic
2423924	NM_018972.4(GDAP1):c.1A>G (p.Met1Val)	Pathogenic
2430769	NM_018972.4(GDAP1):c.173_174insA (p.Pro59fs)	Pathogenic
2724844	NM_018972.4(GDAP1):c.395del (p.Pro132fs)	Pathogenic
2730373	NM_018972.4(GDAP1):c.167dup (p.Ser57fs)	Pathogenic
2801876	NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)	Pathogenic
2815780	NM_018972.4(GDAP1):c.550dup (p.Ala184fs)	Pathogenic
3595879	NM_018972.4(GDAP1):c.400del (p.Asp134fs)	Pathogenic
3643714	NM_018972.4(GDAP1):c.697G>T (p.Glu233Ter)	Pathogenic
406137	NM_018972.4(GDAP1):c.579del (p.Lys193fs)	Pathogenic
4191	NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)	Pathogenic
4193	NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)	Pathogenic
4194	NM_018972.4(GDAP1):c.862dup (p.Thr288fs)	Pathogenic
4195	NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)	Pathogenic

SpliceAI

1219 predictions. Top by Δscore:

Variant	Effect	Δscore
8:74360132:TTTA:T	acceptor_loss	1.0000
8:74360133:TTA:T	acceptor_loss	1.0000
8:74360134:TA:T	acceptor_loss	1.0000
8:74360135:A:AG	acceptor_gain	1.0000
8:74360136:G:GG	acceptor_gain	1.0000
8:74360136:GAAA:G	acceptor_gain	1.0000
8:74360303:GA:G	donor_gain	1.0000
8:74360306:TCGTA:T	donor_gain	1.0000
8:74360308:GTA:G	donor_gain	1.0000
8:74360309:TA:T	donor_gain	1.0000
8:74360310:AG:A	donor_loss	1.0000
8:74360311:GTAT:G	donor_gain	1.0000
8:74361880:T:G	acceptor_gain	1.0000
8:74361880:TCA:T	acceptor_loss	1.0000
8:74361881:CAG:C	acceptor_loss	1.0000
8:74361882:A:AG	acceptor_gain	1.0000
8:74361882:AGGC:A	acceptor_loss	1.0000
8:74361883:G:GA	acceptor_gain	1.0000
8:74361883:GGCCA:G	acceptor_gain	1.0000
8:74361978:AG:A	donor_loss	1.0000
8:74361979:G:C	donor_loss	1.0000
8:74361979:G:GG	donor_gain	1.0000
8:74361980:T:G	donor_loss	1.0000
8:74362926:G:A	acceptor_gain	1.0000
8:74362928:T:TA	acceptor_gain	1.0000
8:74362933:A:AG	acceptor_gain	1.0000
8:74362934:A:G	acceptor_gain	1.0000
8:74362937:A:AG	acceptor_gain	1.0000
8:74362938:G:GT	acceptor_gain	1.0000
8:74362938:GTC:G	acceptor_gain	1.0000

AlphaMissense

2344 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:74351359:T:C	F68S	1.000
8:74351389:C:A	P78H	1.000
8:74351392:T:A	V79D	1.000
8:74364060:G:C	R257P	1.000
8:74364074:G:T	G262W	1.000
8:74350544:T:C	L28P	0.999
8:74350571:C:T	S37F	0.999
8:74351278:G:C	R41P	0.999
8:74351358:T:C	F68L	0.999
8:74351359:T:G	F68C	0.999
8:74351360:T:A	F68L	0.999
8:74351360:T:G	F68L	0.999
8:74351388:C:T	P78S	0.999
8:74351389:C:G	P78R	0.999
8:74351395:T:C	L80P	0.999
8:74360200:G:C	R125P	0.999
8:74360206:T:C	L127P	0.999
8:74360241:G:C	G139R	0.999
8:74360242:G:A	G139D	0.999
8:74361911:T:C	L171P	0.999
8:74361962:A:T	K188I	0.999
8:74361963:A:C	K188N	0.999
8:74361963:A:T	K188N	0.999
8:74364042:T:C	L251P	0.999
8:74364063:T:C	L258P	0.999
8:74364075:G:A	G262E	0.999
8:74350546:T:G	Y29D	0.998
8:74350552:T:A	W31R	0.998
8:74350552:T:C	W31R	0.998
8:74350561:T:C	S34P	0.998

dbSNP variants (sampled 300 via entrez): RS1000036990 (8:74481374 A>G), RS1000094771 (8:74367633 G>A), RS1000107298 (8:74393686 C>A), RS1000130716 (8:74460811 G>C), RS1000136313 (8:74398473 A>T), RS1000174168 (8:74430513 T>A), RS1000184039 (8:74404546 G>T), RS1000229434 (8:74436878 A>G), RS1000260498 (8:74436632 G>A), RS1000285476 (8:74487788 G>A), RS1000286193 (8:74354809 G>A), RS1000303748 (8:74359025 G>A), RS1000317122 (8:74445796 A>G), RS1000317521 (8:74412396 G>C), RS1000324515 (8:74423665 A>G)

Disease associations

OMIM: gene MIM:606598 | disease phenotypes: MIM:214400, MIM:607831, MIM:607706, MIM:608340, MIM:118220

GenCC curated gene-disease

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease axonal type 2K	Strong	Autosomal dominant
Charcot-Marie-Tooth disease recessive intermediate A	Strong	Autosomal recessive
Charcot-Marie-Tooth disease type 4A	Strong	Autosomal recessive
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	Strong	Autosomal recessive
autosomal dominant Charcot-Marie-Tooth disease type 2K	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease	Definitive	SD

Mondo (12): Charcot-Marie-Tooth disease type 4A (MONDO:0008961), Charcot-Marie-Tooth disease axonal type 2K (MONDO:0011916), peripheral neuropathy (MONDO:0005244), Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (MONDO:0011898), Charcot-Marie-Tooth disease recessive intermediate A (MONDO:0012014), Charcot-Marie-Tooth disease (MONDO:0015626), polyneuropathy (MONDO:0001824), sensory peripheral neuropathy (MONDO:0002321), axonal neuropathy (MONDO:0004183), autosomal dominant Charcot-Marie-Tooth disease type 2K (MONDO:0020558), Charcot-Marie-Tooth disease type 4 (MONDO:0018995), Charcot-Marie-Tooth disease type 1 (MONDO:0019011)

Orphanet (7): Charcot-Marie-Tooth disease type 4A (Orphanet:99948), Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (Orphanet:101097), Autosomal dominant Charcot-Marie-Tooth disease type 2K (Orphanet:99944), Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (Orphanet:217055), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), Charcot-Marie-Tooth disease type 4 (Orphanet:64749), Charcot-Marie-Tooth disease type 1 (Orphanet:65753)

HPO phenotypes

99 total (30 of 99 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000762	Decreased nerve conduction velocity
HP:0000764	Peripheral axonal degeneration
HP:0000765	Abnormal thorax morphology
HP:0000925	Abnormality of the vertebral column
HP:0001171	Split hand
HP:0001178	Ulnar claw
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001315	Reduced tendon reflexes
HP:0001371	Flexion contracture
HP:0001604	Vocal cord paresis
HP:0001609	Hoarse voice
HP:0001760	Abnormal foot morphology
HP:0001761	Pes cavus
HP:0001762	Talipes equinovarus
HP:0001765	Hammertoe
HP:0001776	Bilateral talipes equinovarus
HP:0002091	Restrictive ventilatory defect
HP:0002317	Unsteady gait
HP:0002359	Frequent falls
HP:0002460	Distal muscle weakness
HP:0002495	Impaired vibratory sensation
HP:0002505	Loss of ambulation
HP:0002540	Inability to walk
HP:0002650	Scoliosis
HP:0002751	Kyphoscoliosis

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000084_2	Waist circumference	2.000000e-07
GCST000189_43	Protein quantitative trait loci	8.000000e-07
GCST003927_4	Dysmenorrheic pain	7.000000e-07
GCST010118_165	Type 2 diabetes	6.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005057	myoglobin measurement
EFO:0007889	dysmenorrheic pain measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
D011115	Polyneuropathies	C10.668.829.800
C564256	Charcot-Marie-Tooth Disease, Recessive Intermediate A (supp.)
C535419	Charcot-Marie-Tooth disease, Type 4A (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	9
sodium arsenite	affects expression, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	2
Cadmium Chloride	increases expression	2
FR900359	increases phosphorylation	1
sotorasib	increases expression, affects cotreatment	1
dicrotophos	decreases expression	1
trichostatin A	increases expression	1
perfluorooctanoic acid	increases expression	1
coumarin	decreases phosphorylation	1
1-nitropyrene	increases expression	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
corosolic acid	decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
LDN 193189	increases expression, affects cotreatment	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	increases expression, affects cotreatment	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Rotenone	decreases expression	1
Tretinoin	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_JL72	CMT2-FiPS4F1	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00380965	PHASE4	COMPLETED	Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Chemotherapy-Induced Neuropathy
NCT00487981	PHASE4	TERMINATED	Spinal Cord Stimulation for Painful Diabetic Neuropathy
NCT00904202	PHASE4	COMPLETED	A 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
NCT01192113	PHASE4	COMPLETED	Safety and Efficacy of Mecobalamin Injection in Peripheral Neuropathies Patients (Study JGAZSY091109)
NCT01373983	PHASE4	COMPLETED	Intrathecal Bolus Doses of Ziconotide
NCT01458015	PHASE4	TERMINATED	Tapentadol Versus Oxycodone - a Mechanism-based Treatment Approach in Neuropathic Pain
NCT02074267	PHASE4	COMPLETED	Clinical Study for Assessment of the Efficacy of Gabapentin (Carbatin and Neurontin) in Patients With Neuropathy Pain
NCT02372149	PHASE4	UNKNOWN	IVIg for Demyelination in Diabetes Mellitus
NCT02670161	PHASE4	ENROLLING_BY_INVITATION	Quality Improvement and Practice Based Research in Neurology Using the EMR
NCT07022938	PHASE4	COMPLETED	Nutritional Supplement for Treating Chemotherapy Induced Neuropathy
NCT07025005	PHASE4	RECRUITING	Fenofibrate Role in the Prophylaxis From Peripheral Neuropathy Induced by Bortezomib, Lenalidomide and Dexamethasone (VRd) Protocol in the Treatment of Patients With Multiple Myeloma (MM)
NCT00058071	PHASE3	COMPLETED	Amifostine in Treating Peripheral Neuropathy in Patients Who Have Received Chemotherapy for Cancer
NCT00125268	PHASE3	TERMINATED	Near Infrared Light for the Treatment of Painful Peripheral Neuropathy
NCT00195013	PHASE3	COMPLETED	Randomized Placebo-Controlled Trial of Glutamine for Breast Cancer Patients With Peripheral Neuropathy
NCT00232141	PHASE3	COMPLETED	Study of Pregabalin Versus Placebo in the Treatment of Nerve Pain Associated With HIV Neuropathy
NCT00264875	PHASE3	COMPLETED	Open Label Safety And Efficacy Study Of Pregabalin In Subjects With Nerve Pain Asociated With Human Immunodeficiency Virus (HIV) Neuropathy
NCT00369564	PHASE3	COMPLETED	Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer
NCT00471445	PHASE3	COMPLETED	Topical Amitriptyline and Ketamine Cream in Treating Peripheral Neuropathy Caused by Chemotherapy in Cancer Patients
NCT00489411	PHASE3	COMPLETED	Duloxetine in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer
NCT00710554	PHASE3	COMPLETED	A Study of Sativex® for Pain Relief of Peripheral Neuropathic Pain, Associated With Allodynia
NCT00711880	PHASE3	COMPLETED	A Study of Sativex® for Relief of Peripheral Neuropathic Pain Associated With Allodynia.
NCT00713323	PHASE3	COMPLETED	A Study to Compare the Safety and Tolerability of Sativex® in Patients With Neuropathic Pain.
NCT00713817	PHASE3	COMPLETED	A Study to Determine the Maintenance of Effect After Long-term Treatment of Sativex® in Subjects With Neuropathic Pain
NCT00775645	PHASE3	COMPLETED	S0715: Acetyl-L-Carnitine in Preventing Neuropathy in Women With Stage I, II, or IIIA Breast Cancer Undergoing Chemo
NCT00872352	PHASE3	UNKNOWN	Evaluation of Bortezomib Induced Peripheral Neuropathy of Multiple Myeloma (MM) Patients
NCT00998738	PHASE3	TERMINATED	Calcium and Magnesium in Preventing Peripheral Neuropathy Caused by Ixabepilone in Patients With Breast Cancer
NCT01049217	PHASE3	TERMINATED	Pregabalin Versus Placebo In The Treatment Of Neuropathic Pain Associated With HIV Neuropathy
NCT01099449	PHASE3	COMPLETED	Calcium Gluconate and Magnesium Sulfate in Preventing Neurotoxicity in Patients With Colon Cancer or Rectal Cancer Receiving Oxaliplatin-Based Combination Chemotherapy
NCT01288937	PHASE3	TERMINATED	A Placebo Controlled, Randomized, Double Blind Trial of Milnacipran for the Treatment of Idiopathic Neuropathy Pain
NCT01492920	PHASE3	WITHDRAWN	Acetyl-L-Carnitine Hydrochloride in Preventing Peripheral Neuropathy in Patients With Recurrent Ovarian Epithelial Cancer, Primary Peritoneal Cavity Cancer, or Fallopian Tube Cancer Undergoing Chemotherapy
NCT01775449	PHASE3	COMPLETED	Prevention of Oxaliplatin-induced Neuropathic Pain by a Specific Diet
NCT02024191	PHASE3	UNKNOWN	The Role of Glutamine for Preventing Oxaliplatin-Induced Peripheral Neuropathy
NCT02217267	PHASE3	COMPLETED	Long Term Outcome After Serial Lidocaine Infusion in Peripheral Neuropathic Pain
NCT02294149	PHASE3	UNKNOWN	Vit D3 and Omega 3 in Chemo Induced Neuropathy
NCT02311907	PHASE3	COMPLETED	Glutathione in Preventing Peripheral Neuropathy Caused by Paclitaxel and Carboplatin in Patients With Ovarian Cancer, Fallopian Tube Cancer, and/or Primary Peritoneal Cancer
NCT06071936	PHASE3	UNKNOWN	Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy
NCT06071975	PHASE3	UNKNOWN	Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Diabetic Polyneuropathy
NCT06071988	PHASE3	UNKNOWN	Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy
NCT06072573	PHASE3	UNKNOWN	Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Diabetic Polyneuropathy
NCT07287592	PHASE3	NOT_YET_RECRUITING	Glutamine for the Prophylaxis of Vincristine-induced Neuropathy in Children and Adolescents With Cancer.