Peripheral neuropathy

Summary

Peripheral neuropathy (MONDO:0005244) is a disease (an umbrella term covering 30 Mondo subtypes) with 75 cohort genes (101 GWAS associations across 38 studies) and 340 clinical trials. The dominant Reactome pathway is EGR2 and SOX10-mediated initiation of Schwann cell myelination (4 cohort genes). Top therapeutic interventions include glutamine, gabapentin, and calcium gluconate.

At a glance

• Umbrella term: 30 Mondo subtypes
• Cohort genes: 75
• GWAS associations: 101
• ClinVar variants: 213
• Clinical trials: 340

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	peripheral neuropathy
Mondo ID	MONDO:0005244
EFO	EFO:0003100
DOID	DOID:870
NCIT	C119734, C4731
SNOMED CT	302226006, 386033004
UMLS	C0031117
MedGen	18386
MedDRA	10034606
Is cancer (heuristic)	no

Also known as: neuropathy · peripheral nerve disorder · peripheral neuropathy

Data availability: 213 ClinVar variants · 101 GWAS associations (38 studies) · 3 GenCC gene-disease records · 42 cell lines.

Disease family

An umbrella term covering 30 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › peripheral nervous system disorder › peripheral neuropathy

Related subtypes (17): autoimmune disorder of peripheral nervous system, autonomic nervous system disorder, peripheral nervous system neoplasm, vestibulocochlear nerve disorder, hypoglossal nerve disorder, facial nerve disorder, neuroma, accessory nerve disorder, glossopharyngeal nerve disorder, olfactory nerve disorder, radiculopathy, trigeminal nerve disorder, third cranial nerve disorder, cauda equina syndrome, peroneal nerve paralysis, trochlear nerve disorder, abducens nerve disorder

Subtypes (30): autoimmune neuropathy, autonomic neuropathy, mononeuropathy, ischemic neuropathy, polyneuropathy, neuritis, motor peripheral neuropathy, sensory peripheral neuropathy, uremic neuropathy, nerve compression syndrome, axonal neuropathy, diabetic neuropathy, acquired peripheral neuropathy, hereditary peripheral neuropathy, neuralgia, peripheral nerve lesion, nerve plexus disorder, traumatic neuropathy, radiation-induced neuropathy, vasculitic neuropathy, chronic idiopathic neuropathy, chemotherapy-induced neuropathy, infectious neuropathy, vitamin deficiency related neuropathy, paraproteinemia-associated neuropathy, neuropathy in cryoglobulinemia, neuropathy in endocrine disorder, sarcoid neuropathy, neuropathy, small fiber, idiopathic small fibers neuropathy

Genetics & variants

GWAS landscape

101 GWAS associations across 38 studies. Top hits map to 26 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs477992	2e-19	PHGDH	A	0.07
rs662602	6e-17	PHGDH	C	0.07
rs75398113	4e-13	SNRPC	G	0.09
chr19:15983485	5e-13		T	0.1
rs12611275	9e-13	UCA1-AS1 - CYP4F36P	G	0.06
chr7:56099352	2e-12		G	0.06
rs562038	3e-12	PHGDH	G	0.09
chr19:15979744	7e-12		C	0.06
rs13417783	8e-12	SCN7A - XIRP2	?	1.59
rs1260326	3e-11	GCKR	T	0.05
rs12722486	2e-09	IL2RA	?	38.2
rs924607	6e-09	CEP72-DT	T	2.43
rs266095	8e-09	LINC02881 - CXCL12	?	56.3
rs9501753	1e-08	LINC03066 - DUSP22	?
rs17032980	1e-08	LINC01798 - LINC01828	?	3.17
rs7568498	2e-08	TANK	?
rs801350	2e-08	Metazoa_SRP - LINC01790	?
rs801378	2e-08	Metazoa_SRP - LINC01790	?
rs213273	2e-08	HDAC9	?
rs875858	2e-08	VAC14	?	3.6
rs17020773	2e-08	GRID2	C	1.86
rs17108344	3e-08	PTPRB	?	25.3
rs502716	3e-08	ANGPT4 - RSPO4	?	28
rs12786200	3e-08	FAT3	?	4.35
rs4463516	3e-08	Y_RNA - APTX	?	2.89
rs7818688	4e-08	NDUFAF6	?	4.26
rs115575220	4e-08	HIGD1AP4 - SCG2	T	2.44
rs9827908	6e-08	LRIG1	?	48.5
rs7554182	6e-08	RN7SKP229 - ZNF648	?	48.5
rs1858826	1e-07	GNGT1	G	3.45

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475844	Verma A	2024	36,894	386,060	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475835	Verma A	2024	13,396	423,364	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479109	Verma A	2024	12,432	419,042	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477606	Verma A	2024	7,826	105,774	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480036	Verma A	2024	7,826	105,774	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST008223	Tang Y	2019	4,384	0	A Genetic Locus on Chromosome 2q24 Predicting Peripheral Neuropathy Risk in Type 2 Diabetes: Results From the ACCORD and BARI 2D Studies.
GCST90479108	Verma A	2024	3,893	111,443	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481137	Verma A	2024	3,893	111,443	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477605	Verma A	2024	3,094	53,756	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90652108	Liu TY	2025	2,757	223,246	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	2
Tier 3: regulatory	1
Tier 4: intronic/intergenic	46

MAF distribution

Bucket	Variants
common (>=0.05)	47
low_freq (0.01-0.05)	3
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	24
intergenic_variant	16
unknown	3
non_coding_transcript_exon_variant	2
5_prime_UTR_variant	1
missense_variant	1
synonymous_variant	1
regulatory_region_variant	1
3_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs477992	1	119714953	A>C,G,T	0.313	intron_variant	PHGDH	2e-19	Tier 4: intronic/intergenic
rs662602	1	119724280	C>G,T	0.278	intron_variant	PHGDH	6e-17	Tier 4: intronic/intergenic
rs75398113	6	34760294	G>A,C	0.093	intron_variant	SNRPC	4e-13	Tier 4: intronic/intergenic
chr19:15983485				0.289			5e-13	Tier 4: intronic/intergenic
rs12611275	19	15868125	G>A	0.261	intergenic_variant	UCA1-AS1 - CYP4F36P	9e-13	Tier 4: intronic/intergenic
chr7:56099352				0.26			2e-12	Tier 4: intronic/intergenic
rs562038	1	119711922	G>A,C	0.331	5_prime_UTR_variant	PHGDH	3e-12	Tier 2: splice/UTR
chr19:15979744				0.292			7e-12	Tier 4: intronic/intergenic
rs13417783	2	166773339	C>G,T	0.05	intergenic_variant	SCN7A - XIRP2	8e-12	Tier 4: intronic/intergenic
rs1260326	2	27508073	T>A,C,G	0.413	missense_variant	GCKR	3e-11	Tier 1: coding
rs12722486	10	6061799	C>A,G,T	0.05	intron_variant	IL2RA	2e-09	Tier 4: intronic/intergenic
rs924607	5	609978	C>T	0.05	intron_variant	CEP72-DT	6e-09	Tier 4: intronic/intergenic
rs266095	10	44368720	C>A,T	0.05	intergenic_variant	LINC02881 - CXCL12	8e-09	Tier 4: intronic/intergenic
rs9501753	6	221146	G>A	0.05	intron_variant	LINC03066 - DUSP22	1e-08	Tier 4: intronic/intergenic
rs17032980	2	67075611	A>C,G	0.05	intergenic_variant	LINC01798 - LINC01828	1e-08	Tier 4: intronic/intergenic
rs7568498	2	161172602	T>G	0.05	intron_variant	TANK	2e-08	Tier 4: intronic/intergenic
rs801350	2	194682669	G>A,C,T	0.05	intergenic_variant	Metazoa_SRP - LINC01790	2e-08	Tier 4: intronic/intergenic
rs801378	2	194695273	A>C,G,T	0.05	intergenic_variant	Metazoa_SRP - LINC01790	2e-08	Tier 4: intronic/intergenic
rs213273	7	18464885	G>A,C	0.05	intron_variant	HDAC9	2e-08	Tier 4: intronic/intergenic
rs875858	16	70741552	C>A,T	0.05	non_coding_transcript_exon_variant	VAC14	2e-08	Tier 4: intronic/intergenic
rs17020773	4	93570776	T>C	0.03	intron_variant	GRID2	2e-08	Tier 4: intronic/intergenic
rs17108344	12	70560684	C>T	0.05	synonymous_variant	PTPRB	3e-08	Tier 4: intronic/intergenic
rs502716	20	945754	G>A,C,T	0.05	intergenic_variant	ANGPT4 - RSPO4	3e-08	Tier 4: intronic/intergenic
rs12786200	11	92245852	C>T	0.05	intron_variant	FAT3	3e-08	Tier 4: intronic/intergenic
rs4463516	9	32867483	G>A,C,T	0.05	intron_variant	Y_RNA - APTX	3e-08	Tier 4: intronic/intergenic
rs7818688	8	95011854	C>A,G	0.05	intergenic_variant	NDUFAF6	4e-08	Tier 4: intronic/intergenic
rs115575220	2	223475815	G>C,T	0.01	intron_variant	HIGD1AP4 - SCG2	4e-08	Tier 4: intronic/intergenic
rs9827908	3	66395177	A>G	0.05	intron_variant	LRIG1	6e-08	Tier 4: intronic/intergenic
rs7554182	1	182052148	C>A,T	0.05	intergenic_variant	RN7SKP229 - ZNF648	6e-08	Tier 4: intronic/intergenic
rs1858826	7	93719703	C>A,G,T	0.1	regulatory_region_variant	GNGT1	1e-07	Tier 3: regulatory

ClinVar germline variants

213 retrieved; paginated sample, class counts are floors:

84 uncertain significance, 48 likely benign, 23 benign, 20 conflicting classifications of pathogenicity, 13 likely pathogenic, 12 pathogenic/likely pathogenic, 11 pathogenic, 1 benign/likely benign, 1 conflicting classifications of pathogenicity; other; risk factor

ClinVar	Variant (HGVS)	Gene	Classification	Review
267882	46;XX;inv(7)(q11.23q36.3)dn		Pathogenic	criteria provided, single submitter
99113	NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	ABCA4	Pathogenic	reviewed by expert panel
5981	NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)	BAG3	Pathogenic	criteria provided, multiple submitters, no conflicts
4543	NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)	BSCL2	Pathogenic	criteria provided, multiple submitters, no conflicts
397615	NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	CHRNG	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
406135	NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)	GDAP1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1180789	NM_000166.6(GJB1):c.46C>G (p.His16Asp)	GJB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
543920	NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)	GJB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
804285	NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr)	HARS1	Pathogenic	criteria provided, single submitter
804286	NM_002109.6(HARS1):c.730delG	HARS1	Pathogenic	criteria provided, single submitter
37312	NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)	HINT1	Pathogenic	criteria provided, multiple submitters, no conflicts
37314	NM_005340.7(HINT1):c.266G>T (p.Gly89Val)	HINT1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
162194	NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	IGHMBP2	Pathogenic	criteria provided, multiple submitters, no conflicts
9114	NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)	IGHMBP2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
587402	NM_014874.4(MFN2):c.334G>A (p.Val112Met)	MFN2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14029	NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)	NEFL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
66698	NM_006158.5(NEFL):c.803T>C (p.Leu268Pro)	NEFL	Pathogenic	criteria provided, single submitter
29802	NM_002506.3(NGF):c.680_682delinsA (p.Thr227fs)	NGF	Pathogenic	criteria provided, single submitter
548658	NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)	NGLY1	Pathogenic	criteria provided, multiple submitters, no conflicts
1180711	NM_002677.5(PMP2):c.144TAT[1] (p.Ile50del)	PMP2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
243087	NM_002677.5(PMP2):c.128T>A (p.Ile43Asn)	PMP2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4789	NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)	PRX	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1328560	NM_001365088.1(SLC12A6):c.1655G>A (p.Gly552Asp)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1180832	NM_018972.4(GDAP1):c.157G>T (p.Glu53Ter)	GDAP1	Likely pathogenic	criteria provided, single submitter
816531	NM_018972.4(GDAP1):c.802_803del (p.Trp268fs)	GDAP1	Likely pathogenic	criteria provided, single submitter
2429345	NM_000166.6(GJB1):c.577T>C (p.Phe193Leu)	GJB1	Likely pathogenic	no assertion criteria provided
1707549	NM_004984.4(KIF5A):c.262A>G (p.Thr88Ala)	KIF5A	Likely pathogenic	criteria provided, single submitter
1180795	NM_007289.4(MME):c.499T>A (p.Trp167Arg)	MME	Likely pathogenic	criteria provided, multiple submitters, no conflicts
242839	NM_007289.4(MME):c.1861T>C (p.Cys621Arg)	MME	Likely pathogenic	criteria provided, single submitter
1180633	NM_000530.8(MPZ):c.68-2A>C	MPZ	Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 11 · Orphanet: 86 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 2

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
BSCL2	BSCL2	GWAS, Orphanet
NEFL	NEFL	GWAS, Orphanet

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
PCK2	Moderate	Autosomal recessive	peripheral neuropathy	3
ARHGEF10	Limited	Autosomal dominant	peripheral neuropathy	5
NRG1	Limited	Autosomal dominant	peripheral neuropathy	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
BSCL2	Orphanet:100998	Autosomal dominant spastic paraplegia type 17
BSCL2	Orphanet:139536	Distal hereditary motor neuropathy type 5
BSCL2	Orphanet:363400	Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
BSCL2	Orphanet:696289	Congenital generalized lipodystrophy type 2
NEFL	Orphanet:101085	Charcot-Marie-Tooth disease type 1F
NEFL	Orphanet:228374	Charcot-Marie-Tooth disease type 2B5
NEFL	Orphanet:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E
ARHGEF10	Orphanet:140481	Autosomal dominant slowed nerve conduction velocity
PCK2	Orphanet:2880	Phosphoenolpyruvate carboxykinase deficiency
SBF1	Orphanet:363981	Charcot-Marie-Tooth disease type 4B3
SLC12A6	Orphanet:1496	Corpus callosum agenesis-neuronopathy syndrome
SPTAN1	Orphanet:697160	Infantile epileptic spasms syndrome
ATP8A2	Orphanet:1766	Dysequilibrium syndrome
PRX	Orphanet:64748	Dejerine-Sottas syndrome
PRX	Orphanet:99952	Charcot-Marie-Tooth disease type 4F
WNK1	Orphanet:88940	Pseudohypoaldosteronism type 2C
WNK1	Orphanet:970	Hereditary sensory and autonomic neuropathy type 2
GDAP1	Orphanet:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
GDAP1	Orphanet:101102	Charcot-Marie-Tooth disease type 2H
GDAP1	Orphanet:217055	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
GDAP1	Orphanet:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K
GDAP1	Orphanet:99948	Charcot-Marie-Tooth disease type 4A
SUGCT	Orphanet:35706	Glutaric acidemia type 3
PNPLA6	Orphanet:1173	Cerebellar ataxia-hypogonadism syndrome
PNPLA6	Orphanet:1180	Ataxia-hypogonadism-choroidal dystrophy syndrome
PNPLA6	Orphanet:139480	Autosomal recessive spastic paraplegia type 39
PNPLA6	Orphanet:2377	Laurence-Moon syndrome
PNPLA6	Orphanet:3363	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
ZFPM2	Orphanet:2140	Congenital diaphragmatic hernia
ZFPM2	Orphanet:251510	46,XY partial gonadal dysgenesis
ZFPM2	Orphanet:3303	Tetralogy of Fallot
LITAF	Orphanet:101083	Charcot-Marie-Tooth disease type 1C
MFN2	Orphanet:2398	Multiple symmetric lipomatosis
MFN2	Orphanet:64751	Hereditary motor and sensory neuropathy type 5
MFN2	Orphanet:90118	Severe early-onset axonal neuropathy due to MFN2 deficiency
MFN2	Orphanet:90120	Hereditary motor and sensory neuropathy type 6
MFN2	Orphanet:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
NGLY1	Orphanet:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome
NXN	Orphanet:1507	Autosomal recessive Robinow syndrome
HPSE2	Orphanet:2704	Urofacial syndrome
FGD4	Orphanet:99954	Charcot-Marie-Tooth disease type 4H
CHRNG	Orphanet:2990	Autosomal recessive multiple pterygium syndrome
CHRNG	Orphanet:33108	Lethal multiple pterygium syndrome
AARS1	Orphanet:228174	Autosomal dominant Charcot-Marie-Tooth disease type 2N
AARS1	Orphanet:33364	Trichothiodystrophy
AARS1	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
CNGB1	Orphanet:791	Retinitis pigmentosa
COX6A1	Orphanet:435998	Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
MYH14	Orphanet:397744	MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
MYH14	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Cohort genes → proteins

75 cohort genes, 75 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	41
gwas_and_clinvar	2
multi_evidence	32

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
BSCL2	HGNC:15832	ENSG00000168000	Q96G97	Seipin	gwas,clinvar
NEFL	HGNC:7739	ENSG00000277586	P07196	Neurofilament light polypeptide	gwas,clinvar
ARHGEF10	HGNC:14103	ENSG00000104728	O15013	Rho guanine nucleotide exchange factor 10	gencc
NRG1	HGNC:7997	ENSG00000157168	Q02297	Pro-neuregulin-1, membrane-bound isoform	gencc
PCK2	HGNC:8725	ENSG00000100889	Q16822	Phosphoenolpyruvate carboxykinase [GTP], mitochondrial	gencc
SBF1	HGNC:10542	ENSG00000100241	O95248	Myotubularin-related protein 5	clinvar
CX3CL1	HGNC:10647	ENSG00000006210	P78423	Fractalkine	gwas
CXCL12	HGNC:10672	ENSG00000107562	P48061	Stromal cell-derived factor 1	gwas
SLC12A6	HGNC:10914	ENSG00000140199	Q9UHW9	Solute carrier family 12 member 6	clinvar
SPTAN1	HGNC:11273	ENSG00000197694	Q13813	Spectrin alpha chain, non-erythrocytic 1	clinvar
TANK	HGNC:11562	ENSG00000136560	Q92844	TRAF family member-associated NF-kappa-B activator	gwas
TRPM2	HGNC:12339	ENSG00000142185	O94759	Transient receptor potential cation channel subfamily M member 2	gwas
SCUBE1	HGNC:13441	ENSG00000159307	Q8IWY4	Signal peptide, CUB and EGF-like domain-containing protein 1	gwas
ATP8A2	HGNC:13533	ENSG00000132932	Q9NTI2	Phospholipid-transporting ATPase IB	gwas
PRX	HGNC:13797	ENSG00000105227	Q9BXM0	Periaxin	clinvar
HDAC9	HGNC:14065	ENSG00000048052	Q9UKV0	Histone deacetylase 9	gwas
XIRP2	HGNC:14303	ENSG00000163092	A4UGR9	Xin actin-binding repeat-containing protein 2	gwas
CALD1	HGNC:1441	ENSG00000122786	Q05682	Caldesmon	gwas
WNK1	HGNC:14540	ENSG00000060237	Q9H4A3	Serine/threonine-protein kinase WNK1	clinvar
CALU	HGNC:1458	ENSG00000128595	O43852	Calumenin	gwas
VPS16	HGNC:14584	ENSG00000215305	Q9H269	Vacuolar protein sorting-associated protein 16 homolog	clinvar
DNAJB5	HGNC:14887	ENSG00000137094	O75953	DnaJ homolog subfamily B member 5	clinvar
IL37	HGNC:15563	ENSG00000125571	Q9NZH6	Interleukin-37	gwas
HIF3A	HGNC:15825	ENSG00000124440	Q9Y2N7	Hypoxia-inducible factor 3-alpha	gwas
GDAP1	HGNC:15968	ENSG00000104381	Q8TB36	Ganglioside-induced differentiation-associated protein 1	clinvar
SUGCT	HGNC:16001	ENSG00000175600	Q9HAC7	Succinyl-CoA:glutarate CoA-transferase	gwas
SPTLC3	HGNC:16253	ENSG00000172296	Q9NUV7	Serine palmitoyltransferase 3	clinvar
PNPLA6	HGNC:16268	ENSG00000032444	Q8IY17	Patatin-like phospholipase domain-containing protein 6	clinvar
GALNT17	HGNC:16347	ENSG00000185274	Q6IS24	Polypeptide N-acetylgalactosaminyltransferase 17	gwas
ZFPM2	HGNC:16700	ENSG00000169946	Q8WW38	Zinc finger protein ZFPM2	gwas
PRDX6	HGNC:16753	ENSG00000117592	P30041	Peroxiredoxin-6	clinvar
LITAF	HGNC:16841	ENSG00000189067	Q99732	Lipopolysaccharide-induced tumor necrosis factor-alpha factor	gwas
MFN2	HGNC:16877	ENSG00000116688	O95140	Mitofusin-2	clinvar
LRIG1	HGNC:17360	ENSG00000144749	Q96JA1	Leucine-rich repeats and immunoglobulin-like domains protein 1	gwas
CDH13	HGNC:1753	ENSG00000140945	P55290	Cadherin-13	gwas
NGLY1	HGNC:17646	ENSG00000151092	Q96IV0	Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase	clinvar
NXN	HGNC:18008	ENSG00000167693	Q6DKJ4	Nucleoredoxin	gwas
ZNF648	HGNC:18190	ENSG00000179930	Q5T619	Zinc finger protein 648	gwas
HPSE2	HGNC:18374	ENSG00000172987	Q8WWQ2	Inactive heparanase-2	gwas
ADCK1	HGNC:19038	ENSG00000063761	Q86TW2	AarF domain-containing protein kinase 1	gwas
FGD4	HGNC:19125	ENSG00000139132	Q96M96	FYVE, RhoGEF and PH domain-containing protein 4	gwas
CHRNG	HGNC:1967	ENSG00000196811	P07510	Acetylcholine receptor subunit gamma	clinvar
CHST9	HGNC:19898	ENSG00000154080	Q7L1S5	Carbohydrate sulfotransferase 9	gwas
KIF24	HGNC:19916	ENSG00000186638	Q5T7B8	Kinesin-like protein KIF24	clinvar
AARS1	HGNC:20	ENSG00000090861	P49588	Alanine–tRNA ligase, cytoplasmic	clinvar
SLITRK1	HGNC:20297	ENSG00000178235	Q96PX8	SLIT and NTRK-like protein 1	gwas
CNGB1	HGNC:2151	ENSG00000070729	Q14028	Cyclic nucleotide-gated channel beta-1	gwas
TAFA2	HGNC:21589	ENSG00000198673	Q8N3H0	Chemokine-like protein TAFA-2	gwas
COX6A1	HGNC:2277	ENSG00000111775	P12074	Cytochrome c oxidase subunit 6A1, mitochondrial	clinvar
WDHD1	HGNC:23170	ENSG00000198554	O75717	WD repeat and HMG-box DNA-binding protein 1	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BSCL2	Seipin	Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis.
NEFL	Neurofilament light polypeptide	Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber.
ARHGEF10	Rho guanine nucleotide exchange factor 10	May play a role in developmental myelination of peripheral nerves.
NRG1	Pro-neuregulin-1, membrane-bound isoform	Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors.
PCK2	Phosphoenolpyruvate carboxykinase [GTP], mitochondrial	Mitochondrial phosphoenolpyruvate carboxykinase that catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors deriv…
SBF1	Myotubularin-related protein 5	Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location.
CX3CL1	Fractalkine	Chemokine that acts as a ligand for both CX3CR1 and integrins ITGAV:ITGB3 and ITGA4:ITGB1.
CXCL12	Stromal cell-derived factor 1	Chemoattractant active on T-lymphocytes and monocytes but not neutrophils.
SLC12A6	Solute carrier family 12 member 6	Mediates electroneutral potassium-chloride cotransport when activated by cell swelling.
SPTAN1	Spectrin alpha chain, non-erythrocytic 1	Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.
TANK	TRAF family member-associated NF-kappa-B activator	Adapter protein involved in I-kappa-B-kinase (IKK) regulation which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity.
TRPM2	Transient receptor potential cation channel subfamily M member 2	Nonselective, voltage-independent cation channel that mediates Na(+) and Ca(2+) influx, leading to increased cytoplasmic Ca(2+) levels.
SCUBE1	Signal peptide, CUB and EGF-like domain-containing protein 1	Could function as an adhesive molecule and its matrix bound and soluble fragments may play a critical role in vascular biology.
ATP8A2	Phospholipid-transporting ATPase IB	Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric dis…
PRX	Periaxin	Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells.
HDAC9	Histone deacetylase 9	Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4).
XIRP2	Xin actin-binding repeat-containing protein 2	Protects actin filaments from depolymerization.
CALD1	Caldesmon	Actin- and myosin-binding protein implicated in the regulation of actomyosin interactions in smooth muscle and nonmuscle cells (could act as a bridge between myosin and actin filaments).
WNK1	Serine/threonine-protein kinase WNK1	Serine/threonine-protein kinase component of the WNK1-SPAK/OSR1 kinase cascade, which acts as a key regulator of blood pressure and regulatory volume increase by promoting ion influx.
CALU	Calumenin	Involved in regulation of vitamin K-dependent carboxylation of multiple N-terminal glutamate residues.
VPS16	Vacuolar protein sorting-associated protein 16 homolog	Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways.
IL37	Interleukin-37	Immune regulatory cytokine that acts as a suppressor of innate inflammatory and immune responses involved in curbing excessive inflammation.
HIF3A	Hypoxia-inducible factor 3-alpha	Acts as a transcriptional regulator in adaptive response to low oxygen tension.
GDAP1	Ganglioside-induced differentiation-associated protein 1	Regulates the mitochondrial network by promoting mitochondrial fission.
SUGCT	Succinyl-CoA:glutarate CoA-transferase	Coenzyme A (CoA) transferase that reversibly catalyzes the transfer of a CoA moiety from a dicarboxyl-CoA to a dicarboxylate in a metabolite recycling process.
SPTLC3	Serine palmitoyltransferase 3	Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-…
PNPLA6	Patatin-like phospholipase domain-containing protein 6	Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho).
GALNT17	Polypeptide N-acetylgalactosaminyltransferase 17	May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.
ZFPM2	Zinc finger protein ZFPM2	Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis.
PRDX6	Peroxiredoxin-6	Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively.
LITAF	Lipopolysaccharide-induced tumor necrosis factor-alpha factor	Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation.
MFN2	Mitofusin-2	Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion.
LRIG1	Leucine-rich repeats and immunoglobulin-like domains protein 1	Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation.
CDH13	Cadherin-13	Cadherins are calcium-dependent cell adhesion proteins.
NGLY1	Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase	Specifically deglycosylates the denatured form of N-linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation.
NXN	Nucleoredoxin	Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex.
ZNF648	Zinc finger protein 648	May be involved in transcriptional regulation.
HPSE2	Inactive heparanase-2	Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity.
ADCK1	AarF domain-containing protein kinase 1	Appears to be essential for maintaining mitochondrial cristae formation and mitochondrial function by acting via YME1L1 in a kinase-independent manner to regulate essential mitochondrial structural proteins OPA1 and IMMT.
FGD4	FYVE, RhoGEF and PH domain-containing protein 4	Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP.
CHRNG	Acetylcholine receptor subunit gamma	After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
CHST9	Carbohydrate sulfotransferase 9	Catalyzes the transfer of sulfate from 3’-phosphoadenylyl sulfate (PAPS) to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans.
KIF24	Kinesin-like protein KIF24	Microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by mediating recruitment of CCP110 to mother centriole in cycling cells, leading to restrict nucleation of cilia at centrioles.
AARS1	Alanine–tRNA ligase, cytoplasmic	Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala).
SLITRK1	SLIT and NTRK-like protein 1	It is involved in synaptogenesis and promotes excitatory synapse differentiation.
CNGB1	Cyclic nucleotide-gated channel beta-1	Pore-forming subunit of the rod cyclic nucleotide-gated channel.
TAFA2	Chemokine-like protein TAFA-2	Has a role as neurotrophic factor involved in neuronal survival and neurobiological functions.
COX6A1	Cytochrome c oxidase subunit 6A1, mitochondrial	Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation.
WDHD1	WD repeat and HMG-box DNA-binding protein 1	Core replisome component that acts as a replication initiation factor.
MYH14	Myosin-14	Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.

Protein-family classification

Druggable: 16 · Difficult: 17 · Unknown: 42 · Druggable fraction: 0.21

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Scaffold/PPI	10	2.3×	0.087
Ion channel	2	3.0×	0.582
Antibody/Immunoglobulin	3	1.2×	0.679
Enzyme (other)	7	1.1×	0.679
Phosphatase	1	1.1×	0.679
Kinase	3	1.1×	0.679
Other/Unknown	42	1.0×	0.679
Transcription factor	7	0.8×	0.819

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
BSCL2	Other/Unknown	no		Seipin
NEFL	Other/Unknown	no		Intermed_filament_DNA-bd, IF_conserved, IF_rod_dom
ARHGEF10	Scaffold/PPI	no		DH_dom, WD40/YVTN_repeat-like_dom_sf, DBL_dom_sf
NRG1	Antibody/Immunoglobulin	yes		EGF, Neuregulin_C, Ig_sub2
PCK2	Kinase	yes	4.1.1.32	PEP_carboxykinase_GTP, PEP_carboxykinase_N, PEP_carboxykinase_C
SBF1	Phosphatase	yes	3.1.3.16	cDENN_dom, PH_domain, GRAM
CX3CL1	Other/Unknown	no		Chemokine_IL8-like_dom, Chemokine_CX3C, Interleukin_8-like_sf
CXCL12	Other/Unknown	no		Chemokine_IL8-like_dom, CXC_Chemokine_domain, Interleukin_8-like_sf
SLC12A6	Other/Unknown	no		KCL_cotranspt, AA-permease/SLC12A_dom, SLC12A_fam
SPTAN1	Scaffold/PPI	no		SH3_domain, Spectrin_repeat, EF_hand_dom
TANK	Other/Unknown	no		TBD, TANK, CALCOCO1/2_Zn_UBZ1
TRPM2	Ion channel	yes		NUDIX_hydrolase_dom, Ion_trans_dom, NUDIX_hydrolase-like_dom_sf
SCUBE1	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, CUB_dom
ATP8A2	Transcription factor	no	7.6.2.1	P_typ_ATPase, P-type_ATPase_IV, ATPase_P-typ_transduc_dom_A_sf
PRX	Scaffold/PPI	no		PDZ, PDZ_sf, Myelin_sheath_structural
HDAC9	Enzyme (other)	yes	3.5.1.98	HDACs, Ureohydrolase_dom_sf, His_deacetylse_dom
XIRP2	Other/Unknown	no		Actin-binding_Xin_repeat, XIRP1/XIRP2
CALD1	Other/Unknown	no		Caldesmon, Caldesmon_LSP
WNK1	Kinase	yes		Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
CALU	Other/Unknown	no		EF_hand_dom, EF-hand-dom_pair, EF_Hand_1_Ca_BS
VPS16	Other/Unknown	no		Vps16_C, Vps16_N, VPS16
DNAJB5	Other/Unknown	no		DnaJ_domain, DnaJ_C, HSP40/DnaJ_pept-bd
IL37	Other/Unknown	no		IL-1_fam, IL-1RA/IL-36, IL1/FGF
HIF3A	Transcription factor	no		PAS, PAC, bHLH_dom
GDAP1	Other/Unknown	no		Glutathione_S-Trfase_N, Glutathione-S-Trfase_C-like, GST_C_GDAP1
SUGCT	Enzyme (other)	yes	2.8.3.13	CoA-Trfase_fam_III, CoA-Trfase_III_dom_1_sf, CoA-Trfase_III_dom3_sf
SPTLC3	Enzyme (other)	yes	2.3.1.50	Aminotrans_II_pyridoxalP_BS, Aminotransferase_I/II_large, PyrdxlP-dep_Trfase_major
PNPLA6	Other/Unknown	no		cNMP-bd_dom, LysoPLipase_patatin_CS, PNPLA_dom
GALNT17	Other/Unknown	no		Ricin_B_lectin, Glyco_trans_2-like, Nucleotide-diphossugar_trans
ZFPM2	Transcription factor	no		Znf_C2H2_type, Znf_CCHC_FOG, Znf_C2H2_sf
PRDX6	Enzyme (other)	yes	1.11.1.27	AhpC/TSA, Thioredoxin_domain, Peroxiredoxin_C
LITAF	Other/Unknown	no		LITAF, LITAF_fam
MFN2	Other/Unknown	no		Fzo/mitofusin_HR2, Mitofusin_fam, P-loop_NTPase
LRIG1	Antibody/Immunoglobulin	yes		LRRNT, Cys-rich_flank_reg_C, Leu-rich_rpt
CDH13	Other/Unknown	no		Cadherin-like_dom, Cadherin_pro_dom, Cadherin-like_sf
NGLY1	Enzyme (other)	yes	3.5.1.52	Transglutaminase-like, Peptide_N_glycanase_PAW_dom, Galactose-bd-like_sf
NXN	Other/Unknown	no		Thioredoxin-like_fold, Thioredoxin_domain, Thioredoxin-like_sf
ZNF648	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf
HPSE2	Other/Unknown	no		Glyco_hydro_79, GH_hydrolase_sf
ADCK1	Kinase	yes		ABC1_dom, Kinase-like_dom_sf, ADCK1_dom
FGD4	Transcription factor	no		DH_dom, Znf_FYVE, PH_domain
CHRNG	Other/Unknown	no		Nicotinic_acetylcholine_rcpt, Neurotrans-gated_channel_TM, Neur_channel
CHST9	Other/Unknown	no		Sulfotransferase, Carb_sulfotrans_8-10
KIF24	Other/Unknown	no		SAM, Kinesin_motor_dom, SAM/pointed_sf
AARS1	Other/Unknown	no		Ala-tRNA-lgiase_IIc, DHHA1_dom, Transl_B-barrel_sf
SLITRK1	Other/Unknown	no		Cys-rich_flank_reg_C, Leu-rich_rpt, Leu-rich_rpt_typical-subtyp
CNGB1	Ion channel	yes		cNMP-bd_dom, Ion_trans_dom, RmlC-like_jellyroll
TAFA2	Other/Unknown	no		Chemokine-like_TAFA, TAFA_chemokine-like
COX6A1	Other/Unknown	no		Cyt_c_oxidase_su6a, Cyt_c_oxidase_su6a_CS, Cyt_c_oxidase_su6a_sf
WDHD1	Scaffold/PPI	no		WD40_rpt, HMG_box_dom, WD40/YVTN_repeat-like_dom_sf

Expression context

Cohort genes with no expression data: 0.

68 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	1
broad (>20)	74
unknown	0

Top tissues across cohort

Tissue	Cohort genes
secondary oocyte	8
ventricular zone	7
gastrocnemius	6
primordial germ cell in gonad	6
sural nerve	5
cortical plate	5
oocyte	4
prefrontal cortex	4
cerebellar hemisphere	4
right hemisphere of cerebellum	4
calcaneal tendon	4
mucosa of stomach	4
Brodmann (1909) area 23	4
hindlimb stylopod muscle	4
apex of heart	4
buccal mucosa cell	4
male germ line stem cell (sensu Vertebrata) in testis	4
primary visual cortex	3
ganglionic eminence	3
mucosa of transverse colon	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BSCL2	149	ubiquitous	marker	superior frontal gyrus, primary visual cortex, pituitary gland
NEFL	214	broad	marker	dorsal root ganglion, pons, lateral nuclear group of thalamus
ARHGEF10	134	ubiquitous	yes	sural nerve, tibial nerve, right lung
NRG1	209	ubiquitous	marker	ventricular zone, ganglionic eminence, oocyte
PCK2	172	ubiquitous	marker	right lobe of liver, mucosa of transverse colon, small intestine Peyer’s patch
SBF1	278	ubiquitous	yes	left testis, right testis, right lobe of thyroid gland
CX3CL1	261	broad	marker	right lung, right coronary artery, prefrontal cortex
CXCL12	275	ubiquitous	marker	synovial joint, pericardium, mammary duct
SLC12A6	274	ubiquitous	marker	esophagus squamous epithelium, blood, secondary oocyte
SPTAN1	293	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
TANK	293	ubiquitous	marker	monocyte, mononuclear cell, calcaneal tendon
TRPM2	176	broad	marker	right frontal lobe, caudate nucleus, nucleus accumbens
SCUBE1	188	broad	marker	mucosa of stomach, tibia, cortical plate
ATP8A2	180	broad	marker	middle temporal gyrus, Brodmann (1909) area 23, orbitofrontal cortex
PRX	258	ubiquitous	marker	olfactory bulb, trigeminal ganglion, sural nerve
HDAC9	277	ubiquitous	marker	oocyte, monocyte, secondary oocyte
XIRP2	150	tissue_specific	marker	deltoid, biceps brachii, quadriceps femoris
CALD1	293	ubiquitous	marker	blood vessel layer, saphenous vein, cauda epididymis
WNK1	297	ubiquitous	marker	medial globus pallidus, globus pallidus, inferior vagus X ganglion
CALU	303	ubiquitous	marker	stromal cell of endometrium, smooth muscle tissue, tendon of biceps brachii
VPS16	275	ubiquitous	marker	granulocyte, right hemisphere of cerebellum, cerebellar hemisphere
DNAJB5	241	ubiquitous	marker	hindlimb stylopod muscle, saphenous vein, gastrocnemius
IL37	141	tissue_specific	yes	upper arm skin, skin of leg, upper leg skin
HIF3A	223	broad	marker	mucosa of stomach, apex of heart, lower esophagus muscularis layer
GDAP1	244	ubiquitous	yes	endothelial cell, secondary oocyte, oocyte
SUGCT	191	ubiquitous	marker	right adrenal gland cortex, oocyte, right coronary artery
SPTLC3	228	ubiquitous	marker	buccal mucosa cell, placenta, skin of abdomen
PNPLA6	276	ubiquitous	marker	granulocyte, metanephros cortex, upper lobe of left lung
GALNT17	199	broad	marker	trigeminal ganglion, dorsal root ganglion, cerebellar vermis
ZFPM2	239	ubiquitous	marker	skeletal muscle tissue of biceps brachii, germinal epithelium of ovary, biceps brachii

Protein interactions among cohort

Intra-cohort edges: 29.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CXCL12	4,892
DNM2	4,715
NEFL	4,644
DYNC1H1	4,215
PRDX6	4,106
MFN2	3,853
DCTN1	3,654
IARS2	3,442
SPTAN1	3,083
AARS1	3,074

Intra-cohort edges

A	B	Sources
AARS1	IARS2	string_interaction
ARHGEF10	DNAJB5	biogrid_interaction, intact
ARHGEF10	HSPB8	intact
ARHGEF10	SH3TC2	string_interaction
CALD1	SPTAN1	intact
CX3CL1	TENM3	biogrid_interaction
DCTN1	DYNC1H1	biogrid_interaction, string_interaction
DCTN1	KIFBP	intact
DHTKD1	FGD4	string_interaction
DHTKD1	GDAP1	string_interaction
DHTKD1	PLEKHG5	string_interaction
DHTKD1	SH3TC2	string_interaction
DNM2	ZBBX	biogrid_interaction
DYSF	XIRP2	biogrid_interaction, intact
FGD4	GDAP1	string_interaction
FGD4	LITAF	string_interaction
FGD4	NEFL	biogrid_interaction
FGD4	SBF1	string_interaction
FGD4	SH3TC2	string_interaction
GDAP1	LITAF	string_interaction
GDAP1	MFN2	string_interaction
GDAP1	SBF1	string_interaction
GDAP1	SH3TC2	string_interaction
HDAC9	WNK1	intact
LITAF	SH3TC2	string_interaction
NEFL	SBF1	string_interaction
PLEKHG5	SH3TC2	string_interaction
SBF1	SH3TC2	string_interaction
TANK	TENM3	intact

Structural data

PDB: 39 · AlphaFold-only: 36 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
DYNC1H1	Q14204	97
CXCL12	P48061	34
TRPM2	O94759	15
DCTN1	Q14203	13
NRG1	Q02297	11
CNGB1	Q14028	11
DYSF	O75923	11
CX3CL1	P78423	10
DCC	P43146	9
SLC12A6	Q9UHW9	8
GDAP1	Q8TB36	8
WDHD1	O75717	8
DHTKD1	Q96HY7	8
SPTAN1	Q13813	7
AARS1	P49588	6
KIFBP	Q96EK5	6
WNK1	Q9H4A3	5
TANK	Q92844	3
PRDX6	P30041	3
MFN2	O95140	3
COX6A1	P12074	3
HDAC9	Q9UKV0	2
IL37	Q9NZH6	2
SUGCT	Q9HAC7	2
LRIG1	Q96JA1	2
NGLY1	Q96IV0	2
SLITRK1	Q96PX8	2
MYH14	Q7Z406	2
MACROD1	Q9BQ69	2
BSCL2	Q96G97	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PCK2	Q16822	94.04
CYRIA	Q9H0Q0	92.68
GALNT17	Q6IS24	90.68
NXN	Q6DKJ4	90.37
IARS2	Q9NSE4	89.77
TAFA2	Q8N3H0	87.99
NDUFAF6	Q330K2	87.70
SPTLC3	Q9NUV7	87.25
ADCK1	Q86TW2	83.98
HPSE2	Q8WWQ2	82.90
CHRNG	P07510	81.91
CTNNA3	Q9UI47	81.65
ATP8A2	Q9NTI2	81.12
DNAJB5	O75953	80.69
CALU	O43852	79.82
SH3TC2	Q8TF17	78.63
CHST9	Q7L1S5	78.39
TENM3	Q9P273	77.76
SCUBE1	Q8IWY4	77.69
STXBP5L	Q9Y2K9	77.38
SBF1	O95248	74.72
NEFL	P07196	73.66
FGD4	Q96M96	70.85
LITAF	Q99732	70.60
PNPLA6	Q8IY17	69.75
CEP72	Q9P209	65.74
CALD1	Q05682	65.68
ARHGEF10	O15013	65.56
PLEKHG5	O94827	64.94
ZNF648	Q5T619	61.00

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 429. Enrichment computed across 125 evidence-associated genes (91 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 91 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
EGR2 and SOX10-mediated initiation of Schwann cell myelination	4	16.2×	0.043	PRX, GJB1, MPZ, PMP22
NRAGE signals death through JNK	4	8.1×	0.212	ARHGEF10, FGD4, PLEKHG5, NGF
Anchoring of the basal body to the plasma membrane	5	6.2×	0.212	KIF24, CEP72, DCTN1, DYNC1H1, MKS1
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)	1	125.5×	0.328	SLC12A6
Defective visual phototransduction due to ABCA4 loss of function	1	125.5×	0.328	ABCA4
TRKA activation by NGF	1	62.8×	0.328	NGF
NFG and proNGF binds to p75NTR	1	62.8×	0.328	NGF
NTF3 activates NTRK3 signaling	1	62.8×	0.328	NTRK3
Potassium transport channels	1	41.8×	0.328	KCNJ10
PLC-gamma1 signalling	1	41.8×	0.328	NGF
Oligomerization of connexins into connexons	1	41.8×	0.328	GJB1
Transport of connexins along the secretory pathway	1	41.8×	0.328	GJB1
Ceramide signalling	1	41.8×	0.328	NGF
Signalling to STAT3	1	41.8×	0.328	NGF
Breakdown of the nuclear lamina	1	41.8×	0.328	LMNA
Activated NTRK3 signals through PLCG1	1	41.8×	0.328	NTRK3
NTRK3 as a dependence receptor	1	41.8×	0.328	NTRK3
OADH complex synthesizes glutaryl-CoA from 2-OA	1	41.8×	0.328	DHTKD1
NGF processing	1	31.4×	0.328	NGF
Axonal growth stimulation	1	31.4×	0.328	NGF
Retinoid cycle disease events	1	31.4×	0.328	ABCA4
Diseases associated with visual transduction	1	31.4×	0.328	ABCA4
Diseases of the neuronal system	1	31.4×	0.328	ABCA4
Activation of the phototransduction cascade	2	20.9×	0.328	CNGB1, GNGT1
Retrograde neurotrophin signalling	2	17.9×	0.328	DNM2, NGF
Receptor-type tyrosine-protein phosphatases	2	12.6×	0.328	SLITRK1, NTRK3
HS-GAG degradation	2	10.9×	0.328	HPSE2, GPC6
Long-term potentiation	2	10.5×	0.328	NEFL, NRG1
Cytosolic tRNA aminoacylation	2	9.7×	0.328	AARS1, HARS1
Activation of G protein gated Potassium channels	2	8.7×	0.328	GNGT1, KCNJ10

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 117 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
neurofilament cytoskeleton organization	3	43.2×	0.030	NEFL, ATP8A2, NEFH
positive regulation of positive chemotaxis	3	36.0×	0.030	CDH13, S1PR1, NTRK3
neurofilament bundle assembly	2	96.0×	0.042	NEFL, NEFH
tRNA aminoacylation for protein translation	3	21.6×	0.066	AARS1, IARS2, HARS1
potassium ion homeostasis	3	19.6×	0.066	SLC12A6, WNK1, KCNJ10
nuclear migration	3	18.8×	0.066	DCTN1, DYNC1H1, LMNA
positive regulation of smooth muscle cell proliferation	4	11.3×	0.066	CX3CL1, CDH13, S1PR1, IL6R
positive regulation of aggrephagy	2	48.0×	0.068	HSPB8, BAG3
postsynaptic modulation of chemical synaptic transmission	3	17.3×	0.068	NEFL, DCC, NEFH
neuron projection morphogenesis	4	9.4×	0.068	NYAP2, DNM2, KIF20B, NGF
axonogenesis	5	6.9×	0.068	NEFL, ATP8A2, SLITRK1, DCC, NEFH
peripheral nervous system development	3	14.9×	0.077	NGF, NRG1, PMP22
positive regulation of synapse assembly	4	8.3×	0.092	SLITRK1, FLRT1, NTRK3, ADGRB3
positive regulation of neuron projection development	5	5.9×	0.105	CX3CL1, ATP8A2, TENM3, NGF, NTRK3
retrograde axonal transport	2	26.2×	0.112	NEFL, DYNC1H1
cerebellar Purkinje cell layer development	2	26.2×	0.112	AARS1, KLHL1
peripheral nervous system myelin maintenance	2	26.2×	0.112	PRX, SH3TC2
transferrin transport	2	26.2×	0.112	DNM2, HFE
maintenance of synapse structure	2	26.2×	0.112	DCTN1, ADGRB3
extrinsic apoptotic signaling pathway in absence of ligand	3	12.0×	0.112	CX3CL1, NGF, BAG3
monocyte activation involved in immune response	1	144.0×	0.116	DYSF
regulation of T cell tolerance induction	1	144.0×	0.116	IL2RA
involuntary skeletal muscle contraction	1	144.0×	0.116	ATP8A2
cardiac muscle tissue growth involved in heart morphogenesis	1	144.0×	0.116	S1PR1
smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation	1	144.0×	0.116	MKS1
purine ribonucleotide catabolic process	1	144.0×	0.116	HINT1
striated muscle cell apoptotic process	1	144.0×	0.116	BAG3
intermediate filament polymerization or depolymerization	1	144.0×	0.116	NEFL
sphingoid biosynthetic process	1	144.0×	0.116	SPTLC3
positive regulation of axon extension involved in regeneration	1	144.0×	0.116	NTRK3

Therapeutics

Drugs indicated for this disease

0 approved, 14 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Amifostine	Phase 3 (in late-stage trials)
Antimony	Phase 3 (in late-stage trials)
Capsaicin	Phase 3 (in late-stage trials)
Carboplatin	Phase 3 (in late-stage trials)
Duloxetine	Phase 3 (in late-stage trials)
Glutamine	Phase 3 (in late-stage trials)
Glutathione	Phase 3 (in late-stage trials)
Human Immunoglobulin G	Phase 3 (in late-stage trials)
Lamotrigine	Phase 3 (in late-stage trials)
Lidocaine	Phase 3 (in late-stage trials)
Milnacipran	Phase 3 (in late-stage trials)
Omeprazole	Phase 3 (in late-stage trials)
Paclitaxel	Phase 3 (in late-stage trials)
Pregabalin	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Acetylcarnitine, Amitriptyline, Candesartan, Cannabidiol, Curcumin, Dextromethorphan, Epoetin Alfa, Fluorouracil, Gabapentin, Govorestat, Lorcaserin, Losartan, Metformin, Methadone, Nabiximols, Nicotinamide Riboside, Olesoxime, Oxaliplatin, Pirenzepine, Riluzole, Rituximab, Sodium Chloride, Thrombomodulin Alfa, Vitamin E.

Drug target analysis

Approved (phase 4): 7 · Phase ≥3: 7 · Phased (≥1): 11 · Undrugged: 64

Druggability breadth: 55 of 125 evidence-associated genes (44%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
CXCL12	PLERIXAFOR
TRPM2	CLOTRIMAZOLE
HDAC9	CELECOXIB
NGLY1	DACTINOMYCIN
ADCK1	MOMELOTINIB
CHRNG	VARENICLINE
MYH14	TUCATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
HDAC9	28	4
ADCK1	17	4
CHRNG	10	4
TRPM2	5	4
CXCL12	2	4
SPTAN1	1	2
CALD1	1	2
NGLY1	1	4
MYH14	1	4
DYNC1H1	1	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PLERIXAFOR	4	CXCL12
DIFLUNISAL	4	CXCL12
CLOTRIMAZOLE	4	TRPM2
COPPER	4	TRPM2
ADENOSINE PHOSPHATE	4	TRPM2
ECONAZOLE	4	TRPM2
CELECOXIB	4	HDAC9
PHENYLBUTANOIC ACID	4	HDAC9
SODIUM PHENYLBUTYRATE	4	HDAC9
ROMIDEPSIN	4	HDAC9
BELINOSTAT	4	HDAC9
PANOBINOSTAT	4	HDAC9
VORINOSTAT	4	HDAC9
GIVINOSTAT	4	HDAC9
DACTINOMYCIN	4	NGLY1
MOMELOTINIB	4	ADCK1
FEDRATINIB	4	ADCK1
PACRITINIB	4	ADCK1
FOSTAMATINIB	4	ADCK1
FILGOTINIB	4	ADCK1
ABEMACICLIB	4	ADCK1
GILTERITINIB	4	ADCK1
PAZOPANIB	4	ADCK1
VARENICLINE	4	CHRNG
NICOTINE	4	CHRNG
TROPISETRON	4	CHRNG
BUPROPION	4	CHRNG
MECAMYLAMINE	4	CHRNG
TUCATINIB	4	MYH14
CURCUMIN	3	HDAC9

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 12.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
HDAC9	1,625	Binding:1612, ADMET:8, Functional:4, Toxicity:1
WNK1	165	Binding:165
CHRNG	67	Binding:36, Functional:31
TRPM2	59	Binding:58, Functional:1
CXCL12	29	Binding:29
PRDX6	15	Binding:15
DNM2	15	Binding:15
NGLY1	9	Binding:9
SPTAN1	7	Binding:7
DYNC1H1	7	Binding:7
CALD1	6	Binding:6
ADCK1	6	Binding:6
MACROD1	6	Binding:6
MFN2	3	Binding:3
WDHD1	3	Binding:3
PCK2	2	Binding:2
TANK	2	Binding:2
KIF24	2	Binding:2
AARS1	2	Binding:2
IARS2	2	Binding:2
CALU	1	Binding:1
SPTLC3	1	Binding:1
PNPLA6	1	Binding:1
LITAF	1	Binding:1
COX6A1	1	Binding:1
MYH14	1	Binding:1
VAC14	1	Binding:1
DCTN1	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
PCK2	4.1.1.32	phosphoenolpyruvate carboxykinase (GTP)
SBF1	3.1.3.16	protein-serine/threonine phosphatase
ATP8A2	7.6.2.1	P-type phospholipid transporter
HDAC9	3.5.1.98	histone deacetylase
SUGCT	2.8.3.13	succinate-hydroxymethylglutarate CoA-transferase
SPTLC3	2.3.1.50	serine C-palmitoyltransferase
PRDX6	1.11.1.27, 2.3.1.23, 3.1.1.4	glutathione-dependent peroxiredoxin, 1-acylglycerophosphocholine O-acyltransferase, phospholipase A2
NGLY1	3.5.1.52	peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase
DHTKD1	1.2.1.105	2-oxoglutarate dehydrogenase system
MACROD1	3.1.1.106	O-acetyl-ADP-ribose deacetylase
IARS2	6.1.1.5	isoleucine-tRNA ligase
DNM2	3.6.5.5	dynamin GTPase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
HDAC9	1,625
WNK1	165

Pharmacogenomics

Cohort genes with a PharmGKB record: 75; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
PLERIXAFOR	4	CXCL12
DIFLUNISAL	4	CXCL12
CLOTRIMAZOLE	4	TRPM2
COPPER	4	TRPM2
ADENOSINE PHOSPHATE	4	TRPM2
ECONAZOLE	4	TRPM2
CELECOXIB	4	HDAC9
PHENYLBUTANOIC ACID	4	HDAC9
SODIUM PHENYLBUTYRATE	4	HDAC9
ROMIDEPSIN	4	HDAC9
BELINOSTAT	4	HDAC9
PANOBINOSTAT	4	HDAC9
VORINOSTAT	4	HDAC9
GIVINOSTAT	4	HDAC9
DACTINOMYCIN	4	NGLY1
MOMELOTINIB	4	ADCK1
FEDRATINIB	4	ADCK1
PACRITINIB	4	ADCK1
FOSTAMATINIB	4	ADCK1
FILGOTINIB	4	ADCK1
ABEMACICLIB	4	ADCK1
GILTERITINIB	4	ADCK1
PAZOPANIB	4	ADCK1
VARENICLINE	4	CHRNG
NICOTINE	4	CHRNG
TROPISETRON	4	CHRNG
BUPROPION	4	CHRNG
MECAMYLAMINE	4	CHRNG
TUCATINIB	4	MYH14
CURCUMIN	3	HDAC9

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	7	CXCL12, TRPM2, HDAC9, NGLY1, ADCK1, CHRNG, MYH14
B	Phased (≥1) drug, not yet approved	4	SPTAN1, CALD1, DYNC1H1, IARS2
C	Druggable family + PDB, no drug	9	NRG1, WNK1, SUGCT, PRDX6, LRIG1, CNGB1, DHTKD1, DCC, MACROD1
D	Druggable family + AlphaFold only, no drug	3	PCK2, SBF1, SPTLC3
E	Difficult family or no structure, no drug	52	BSCL2, NEFL, ARHGEF10, CX3CL1, SLC12A6, TANK, SCUBE1, ATP8A2, PRX, XIRP2 (+42 more)

Undrugged target profiles

64 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
AARS1	2	IARS2
WNK1	165	—
BSCL2	0	—
NEFL	0	—
ARHGEF10	0	—
NRG1	0	—
PCK2	2	—
SBF1	0	—
CX3CL1	0	—
SLC12A6	0	—
TANK	2	—
SCUBE1	0	—
ATP8A2	0	—
PRX	0	—
XIRP2	0	—
CALU	1	—
VPS16	0	—
DNAJB5	0	—
IL37	0	—
HIF3A	0	—
GDAP1	0	—
SUGCT	0	—
SPTLC3	1	—
PNPLA6	1	—
GALNT17	0	—
ZFPM2	0	—
PRDX6	15	—
LITAF	1	—
MFN2	3	—
LRIG1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 340.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	236
PHASE2	39
PHASE3	29
PHASE4	11
PHASE1/PHASE2	9
PHASE1	8
PHASE2/PHASE3	5
EARLY_PHASE1	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02670161	PHASE4	ENROLLING_BY_INVITATION	Quality Improvement and Practice Based Research in Neurology Using the EMR
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)
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
NCT07022938	PHASE4	COMPLETED	Nutritional Supplement for Treating Chemotherapy Induced Neuropathy
NCT07287592	PHASE3	NOT_YET_RECRUITING	Glutamine for the Prophylaxis of Vincristine-induced Neuropathy in Children and Adolescents With Cancer.
NCT07475065	PHASE2/PHASE3	NOT_YET_RECRUITING	The Effect of Oral DLBS1033 in Patients With Diabetic Polyneuropathy
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
NCT02590367	PHASE2/PHASE3	UNKNOWN	Estimate the Efficacy of HD6610 Granule for Oxaliplatin-induced Peripheral Neuropathy
NCT02936843	PHASE2/PHASE3	COMPLETED	Targeting Inflammation With Salsalate in Type 1 Diabetes Neuropathy
NCT05189535	PHASE2/PHASE3	COMPLETED	Prevention of Paclitaxel-Induced Peripheral Neuropathy in Breast Cancer Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
GLUTAMINE	4	5
GABAPENTIN	4	4
CALCIUM GLUCONATE	4	2
MAGNESIUM SULFATE	4	2
THIAMINE ION	4	2
VENLAFAXINE	4	2
ACETYLCHOLINE	4	1
AMIFOSTINE	4	1
BORTEZOMIB	4	1
CENEGERMIN	4	1
CILOSTAZOL	4	1
DULOXETINE HYDROCHLORIDE	4	1
ERIBULIN	4	1
ETHOSUXIMIDE	4	1
HYALURONIDASE (HUMAN RECOMBINANT)	4	1
ILOPROST	4	1
IXABEPILONE	4	1
LACOSAMIDE	4	1
LENALIDOMIDE	4	1
LIDOCAINE HYDROCHLORIDE	4	1
MENTHOL	4	1
MILNACIPRAN	4	1
MINOCYCLINE HYDROCHLORIDE	4	1
OXALIPLATIN	4	1
OXYCODONE	4	1
PENTOXIFYLLINE	4	1
PHENYTOIN	4	1
PHENYTOIN SODIUM	4	1
PIRENZEPINE	4	1
PYRILAMINE	4	1