RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: polyneuropathy
Accession: DOID:1389
browse the term
Definition: Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance.
Synonyms: exact_synonym: Acquired Polyneuropathy; Critical Illness Polyneuropathies; Critical Illness Polyneuropathy; Familial Polyneuropathies; Familial Polyneuropathy; Inherited Polyneuropathies; Inherited Polyneuropathy; Motor Polyneuropathies; acquired polyneuropathies; motor polyneuropathy; multifocal motor neuropathy; polyneuropathies
primary_id: MESH:D011115
alt_id: OMIA:001292
xref: NCI:C26951
For additional species annotation, visit the
Alliance of Genome Resources .
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Apoa4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:19589605
RGD:5685648
NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
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Ccnf
cyclin F
ISO
ClinVar Annotator: match by term: Polyneuropathy
ClinVar
PMID:25741868
NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
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Cst3
cystatin C
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:11134381
RGD:5686395
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Polyneuropathy
ClinVar
NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17010629
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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Fcgr3a
Fc fragment of IgG receptor IIIa
treatment
ISO
associated with Monoclonal Gammopathy of Undetermined Significance;DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:24487381
RGD:11352254
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Gdap1
ganglioside-induced differentiation-associated-protein 1
ISO
ClinVar Annotator: match by term: Polyneuropathy
ClinVar
PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532
NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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Il1b
interleukin 1 beta
treatment
IEP
RGD
PMID:29307658
RGD:13792836
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il6
interleukin 6
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
RGD
PMID:19131463
RGD:2307274
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Polyneuropathy
ClinVar
NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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Med25
mediator complex subunit 25
ISO
ClinVar Annotator: match by term: Polyneuropathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
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Pmp22
peripheral myelin protein 22
ISO
RGD
PMID:9409359
RGD:1358786
NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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Pnpla6
patatin-like phospholipase domain containing 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22819951
NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
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Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Polyneuropathy
ClinVar
NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
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Reep1
receptor accessory protein 1
ISO
ClinVar Annotator: match by term: Polyneuropathy
ClinVar
PMID:25741868
NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphisms, haplotype:cds:HLA-DRB1*15 (human)
RGD
PMID:20211906
RGD:5147579
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Scp2
sterol carrier protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16685654
NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
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Serpine1
serpin family E member 1
ISO
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
RGD
PMID:9201602
RGD:8547710
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Sod2
superoxide dismutase 2
ISO
associated with Diabetes Mellitus, Type 1;DNA:polymorphism:exon:p.A-9V (human)
RGD
PMID:12815947
RGD:1581254
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Sod3
superoxide dismutase 3
ISO
associated with Diabetes Mellitus, Type 1;DNA:polymorphism:exon:p.R213G (human)
RGD
PMID:12815947
RGD:1581254
NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
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Tgm6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Polyneuropathy
ClinVar
PMID:25741868 PMID:26467025
NCBI chr 3:122,644,183...122,680,054
Ensembl chr 3:122,662,086...122,679,128
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Dhh
desert hedgehog signaling molecule
ISO
ClinVar Annotator: match by OMIM:607080 ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
OMIM ClinVar
PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 PMID:29471294
NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783
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Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Ataxia and polyneuropathy, adult-onset
ClinVar
PMID:3612192 PMID:8190310 PMID:8395787 PMID:8602753 PMID:8644724 PMID:8750605 PMID:9568930 PMID:9762610 PMID:11916326 PMID:16049925 PMID:18055910 PMID:25741868
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Igf1
insulin-like growth factor 1
IEP
RGD
PMID:23016131
RGD:10402569
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Igf1r
insulin-like growth factor 1 receptor
IEP
RGD
PMID:23016131
RGD:10402569
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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Igf2
insulin-like growth factor 2
IEP
RGD
PMID:23016131
RGD:10402569
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Iars2
isoleucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
OMIM ClinVar
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 PMID:30041933 PMID:30419932
NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
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Ccl28
C-C motif chemokine ligand 28
ISO
RGD
PMID:19050296
RGD:4890012
NCBI chr 2:52,379,341...52,403,979
Ensembl chr 2:52,379,341...52,404,246
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:sciatic nerve (mouse)
RGD
PMID:19050296
RGD:4890012
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:sural nerve
RGD
PMID:10408538
RGD:13204856
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Kif5a
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Demyelinating peripheral neuropathy
ClinVar
PMID:25741868
NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
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Aire
autoimmune regulator
ISS
OMIM:139393
MouseDO
NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631
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Apoa4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:18343991
RGD:5685658
NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
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Ccl2
C-C motif chemokine ligand 2
disease_progression
ISO
protein:increased expression:plasma (human)
RGD
PMID:12507779
RGD:8549645
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Cd86
CD86 molecule
ISS
OMIM:139393
MouseDO
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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Cst3
cystatin C
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:11134381
RGD:5686395
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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Ctsb
cathepsin B
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:11134381
RGD:5686395
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
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Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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Hcrt
hypocretin neuropeptide precursor
ISO
RGD
PMID:15623725
RGD:1600925
NCBI chr10:88,669,216...88,670,430
Ensembl chr10:88,669,214...88,670,430
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Pmp22
peripheral myelin protein 22
ISO
ClinVar Annotator: match by term: Guillain-Barre syndrome, familial
OMIM ClinVar
PMID:25741868 PMID:26392352 PMID:26467025 PMID:28492532
NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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Sptlc1
serine palmitoyltransferase, long chain base subunit 1
ISO
ClinVar Annotator: match by term: Neuropathy hereditary sensory and autonomic type 1 ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1
ClinVar
PMID:11242106 PMID:11242114 PMID:11479835 PMID:12417569 PMID:13646503 PMID:14152213 PMID:15037712 PMID:15546589 PMID:16210380 PMID:16364956 PMID:18018475 PMID:19132419 PMID:19651702 PMID:19923297 PMID:20097765 PMID:20504773 PMID:21618344 PMID:22302274 PMID:23454272 PMID:24088041 PMID:24247255 PMID:24673574 PMID:25584079 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26681808 PMID:28492532 PMID:30373780 PMID:31509666 PMID:32581362
NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
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Sptlc1
serine palmitoyltransferase, long chain base subunit 1
ISO
ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type IA, severe ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A
OMIM ClinVar
PMID:11242106 PMID:11242114 PMID:11479835 PMID:12417569 PMID:13646503 PMID:14152213 PMID:15037712 PMID:15546589 PMID:16210380 PMID:16364956 PMID:18018475 PMID:18077166 PMID:19132419 PMID:19651702 PMID:19923297 PMID:20097765 PMID:20504773 PMID:21618344 PMID:22302274 PMID:23454272 PMID:24247255 PMID:24673574 PMID:25584079 PMID:25741868 PMID:26467025 PMID:26681808 PMID:28492532 PMID:31509666 PMID:32581362
NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
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Ahsa1
activator of Hsp90 ATPase activity 1
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar
PMID:28492532
NCBI chr 6:111,296,168...111,304,224
Ensembl chr 6:111,296,417...111,304,224
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Gstz1
glutathione S-transferase zeta 1
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar
PMID:28492532
NCBI chr 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244
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Ism2
isthmin 2
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar
PMID:28492532
NCBI chr 6:111,309,054...111,329,967
Ensembl chr 6:111,310,060...111,329,882
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Noxred1
NADP-dependent oxidoreductase domain containing 1
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar
PMID:28492532
NCBI chr 6:111,243,232...111,271,107
Ensembl chr 6:111,243,228...111,267,734
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Pomt2
protein-O-mannosyltransferase 2
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar
PMID:28492532
NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
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Samd15
sterile alpha motif domain containing 15
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar
PMID:28492532
NCBI chr 6:111,223,026...111,241,326
Ensembl chr 6:111,223,026...111,241,303
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Sptlc2
serine palmitoyltransferase, long chain base subunit 2
ISO
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IC ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar Annotator: match by OMIM:613640
OMIM ClinVar
PMID:19564159 PMID:20920666 PMID:23658386 PMID:24175284 PMID:25567748 PMID:25741868 PMID:26467025 PMID:26573920 PMID:26681808 PMID:27549087 PMID:28492532 PMID:29042446 PMID:29184351 PMID:30866134 PMID:30955194 PMID:31509666
NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
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Tmed8
transmembrane p24 trafficking protein family member 8
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar
PMID:28492532
NCBI chr 6:111,188,938...111,222,866
Ensembl chr 6:111,194,951...111,222,858
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Vipas39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar
PMID:28492532
NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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Kif1a
kinesin family member 1A
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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Rad52
RAD52 homolog, DNA repair protein
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II
ClinVar
NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609
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Retreg1
reticulophagy regulator 1
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:28492532
NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987
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Wnk1
WNK lysine deficient protein kinase 1
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II
ClinVar
PMID:28492532
NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
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Kif1a
kinesin family member 1A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA
CTD ClinVar
PMID:21820098 PMID:22258533 PMID:25265257 PMID:25741868 PMID:26125038 PMID:26354034 PMID:26467025 PMID:28492532 PMID:28554332 PMID:28970574 PMID:30564185 PMID:31616253 PMID:32096284 PMID:32860008
NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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Rad52
RAD52 homolog, DNA repair protein
ISO
ClinVar Annotator: match by term: Neurogenic acroosteolysis
ClinVar
NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609
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Retreg1
reticulophagy regulator 1
ISO
ClinVar Annotator: match by OMIM:201300 ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:19838196 PMID:28492532
NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987
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Scn9a
sodium voltage-gated channel alpha subunit 9
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA
CTD ClinVar
PMID:374104 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 PMID:15385606 PMID:15955112 PMID:17145499 PMID:17470132 PMID:18347287 PMID:18414213 PMID:18518989 PMID:18599537 PMID:19304393 PMID:19369487 PMID:19549232 PMID:19557861 PMID:19763161 PMID:20301342 PMID:20478850 PMID:20628234 PMID:20635406 PMID:21094958 PMID:21115638 PMID:21698661 PMID:21939494 PMID:22035805 PMID:22136189 PMID:22539570 PMID:22604722 PMID:22826602 PMID:22995991 PMID:23129781 PMID:23149731 PMID:23280954 PMID:23292638 PMID:23450472 PMID:23874707 PMID:23895530 PMID:24033266 PMID:24088041 PMID:24776970 PMID:24817410 PMID:24820863 PMID:24848745 PMID:25250524 PMID:25253744 PMID:25316021 PMID:25326635 PMID:25333069 PMID:25348405 PMID:25401298 PMID:25741868 PMID:25852444 PMID:25993546 PMID:25995458 PMID:26264438 PMID:26284228 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26675522 PMID:26920677 PMID:27301361 PMID:27504264 PMID:27608006 PMID:27843123 PMID:27884173 PMID:27956748 PMID:28073787 PMID:28116328 PMID:28235406 PMID:28440294 PMID:28492532 PMID:28842445 PMID:29176367 PMID:29264398 PMID:29358611 PMID:29500686 PMID:29911575 PMID:29924869 PMID:29961513 PMID:29978519 PMID:30316835 PMID:30478917 PMID:30569495 PMID:30642272 PMID:30795902 PMID:30834459 PMID:31193310 PMID:31372899 PMID:31780880 PMID:32581362
NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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Wnk1
WNK lysine deficient protein kinase 1
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar Annotator: match by term: Neurogenic acroosteolysis ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type II ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE II ClinVar Annotator: match by OMIM:201300
OMIM ClinVar
PMID:15060842 PMID:15455397 PMID:15911806 PMID:16534117 PMID:16636245 PMID:16946995 PMID:18521183 PMID:18580052 PMID:19651702 PMID:21530900 PMID:21625937 PMID:22302274 PMID:22910560 PMID:22934535 PMID:23149595 PMID:25741868 PMID:26467025 PMID:27066579 PMID:27671536 PMID:27765018 PMID:28422281 PMID:28492532 PMID:29701257 PMID:30497409 PMID:31132985
NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
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Retreg1
reticulophagy regulator 1
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIB ClinVar Annotator: match by OMIM:613115
OMIM ClinVar
PMID:19838196 PMID:24327336 PMID:25741868 PMID:28492532
NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987
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Ngf
nerve growth factor
ISO
ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers
ClinVar OMIM
PMID:14976160 PMID:15131306 PMID:18420729 PMID:19038341 PMID:19945432 PMID:20978020 PMID:21358750 PMID:21387003 PMID:22330829 PMID:25741868 PMID:26215504 PMID:28492532
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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Scn11a
sodium voltage-gated channel alpha subunit 11
ISO
ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers
ClinVar
PMID:24207120 PMID:25741868
NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
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Dst
dystonin
ISO
ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VI ClinVar Annotator: match by OMIM:614653
OMIM ClinVar
PMID:20164846 PMID:22522446 PMID:24033266 PMID:25059916 PMID:25741868 PMID:28492532 PMID:28558912 PMID:31474762
NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
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Scn11a
sodium voltage-gated channel alpha subunit 11
ISO
ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VII
OMIM ClinVar
PMID:24036948 PMID:24207120 PMID:24776970 PMID:25118027 PMID:25741868 PMID:25791876 PMID:26423924 PMID:26746779 PMID:28289907 PMID:28298626 PMID:28492532 PMID:29213238 PMID:29389947 PMID:29419974 PMID:30046661 PMID:30395542 PMID:30533233 PMID:30557356 PMID:32581362
NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
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Prdm12
PR/SET domain 12
ISO
ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VIII
OMIM ClinVar
PMID:25741868 PMID:25891934 PMID:26005867 PMID:28492532
NCBI chr 3:10,181,104...10,199,185
Ensembl chr 3:10,181,924...10,196,626
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Cct4
chaperonin containing TCP1 subunit 4
IMP
RGD
PMID:12874111
RGD:1299607
NCBI chr14:107,767,392...107,780,270
Ensembl chr14:107,767,392...107,780,270
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Dnmt1
DNA methyltransferase 1
ISO
DNA:missensemutations:cds: CTD Direct Evidence: marker/mechanism
CTD
PMID:21532572 , PMID:21532572
RGD:9588627
NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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Dst
dystonin
ISS
MouseDO
NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
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Elp1
elongator acetyltransferase complex subunit 1
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy
ClinVar
PMID:26392352 PMID:28492532
NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
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Kif1a
kinesin family member 1A
ISO
DNA:frameshift mutations:exon:p.Leu947Argfs¿¿¿4 (c.2840delT), p.Ser1758Glnfs¿¿¿7 (c.5271dupC) (human) ClinVar Annotator: match by term: NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN DNA:missense mutations: :multiple
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 , PMID:21820098 , PMID:25265257
RGD:12911225 , RGD:12911226
NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
DNA:mutations: : ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy CTD Direct Evidence: marker/mechanism DNA:mutations:cds, splice junction: DNA:insertion: :c.2086_2087insC (human)
ClinVar CTD
PMID:11668614 , PMID:19651702 , PMID:18077166 , PMID:18322713 , PMID:20647579 , PMID:19250380
RGD:5684543 , RGD:5684770 , RGD:5684769 , RGD:5684767 , RGD:5684544
NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
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Rad52
RAD52 homolog, DNA repair protein
ISO
ClinVar Annotator: match by term: Giaccai type acroosteolysis
ClinVar
NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609
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Retreg1
reticulophagy regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838196
NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987
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Scn11a
sodium voltage-gated channel alpha subunit 11
ISS
MouseDO
NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
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Scn9a
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE
ClinVar
PMID:14985375 PMID:15385606 PMID:15955112 PMID:18347287 PMID:19549232 PMID:20301342 PMID:25993546 PMID:26920677 PMID:28492532 PMID:29911575 PMID:32581362
NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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Wnk1
WNK lysine deficient protein kinase 1
ISO
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE ClinVar Annotator: match by term: Giaccai type acroosteolysis
ClinVar
PMID:28492532
NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
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Atl1
atlastin GTPase 1
ISO
ClinVar Annotator: match by term: Hereditary sensory neuropathy type 1D ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE ID ClinVar Annotator: match by OMIM:613708
OMIM ClinVar
PMID:21194679 PMID:25741868 PMID:28492532
NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
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Dnmt1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy ClinVar Annotator: match by OMIM:614116
OMIM ClinVar
PMID:7898717 PMID:10210919 PMID:21532572 PMID:22328086 PMID:23365052 PMID:24727570 PMID:25326637 PMID:25678562 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30165906
NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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Atl3
atlastin GTPase 3
ISO
ClinVar Annotator: match by term: Hereditary sensory neuropathy type IF ClinVar Annotator: match by OMIM:615632
OMIM ClinVar
PMID:24459106 PMID:24736309 PMID:28492532 PMID:30680846
NCBI chr 1:222,746,023...222,788,439
Ensembl chr 1:222,746,023...222,786,942
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Kif1a
kinesin family member 1A
ISO
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC ClinVar Annotator: match by OMIM:614213
OMIM ClinVar
PMID:18414213 PMID:21376300 PMID:21820098 PMID:22258533 PMID:25265257 PMID:25741868 PMID:26077850 PMID:26467025 PMID:28492532 PMID:28970574 PMID:29590070 PMID:31616253
NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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Insrr
insulin receptor-related receptor
ISO
ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV
ClinVar
NCBI chr 2:187,161,817...187,181,400
Ensembl chr 2:187,162,017...187,181,395
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: HSAN 4 ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II
OMIM ClinVar
PMID:77656 PMID:0233776 PMID:8696348 PMID:10090906 PMID:10233776 PMID:10330344 PMID:10443680 PMID:10861667 PMID:10982191 PMID:11071380 PMID:11139246 PMID:11159935 PMID:11310631 PMID:11668614 PMID:11719521 PMID:11748840 PMID:12210794 PMID:12406349 PMID:12949319 PMID:15534759 PMID:16373086 PMID:18056464 PMID:18179783 PMID:18322713 PMID:19250380 PMID:19598235 PMID:19618435 PMID:19651702 PMID:20003389 PMID:21708027 PMID:22032467 PMID:22302274 PMID:22397633 PMID:22653642 PMID:22957891 PMID:23112235 PMID:23241418 PMID:23799134 PMID:24088041 PMID:24154508 PMID:25359976 PMID:25741868 PMID:26215504 PMID:26467025 PMID:26633545 PMID:27058611 PMID:27265460 PMID:27544236 PMID:27551041 PMID:27676246 PMID:27698470 PMID:28192073 PMID:28328124 PMID:28345382 PMID:28492532 PMID:28981924 PMID:29619836 PMID:29770739 PMID:30774415 PMID:32214227
NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
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Scp2
sterol carrier protein 2
ISO
ClinVar Annotator: match by term: Leukoencephalopathy with dystonia and motor neuropathy ClinVar Annotator: match by null
OMIM ClinVar
PMID:16685654 PMID:25741868
NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
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Acox1
acyl-CoA oxidase 1
ISO
ClinVar Annotator: match by term: MITCHELL SYNDROME
OMIM ClinVar
PMID:25741868 PMID:32169171
NCBI chr10:104,724,534...104,748,003
Ensembl chr10:104,722,958...104,748,050
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Mpz
myelin protein zero
ISS
OMIM:609136
MouseDO
NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease ClinVar Annotator: match by term: PCWH Syndrome
ClinVar
PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:28492532
NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
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Sox10
SRY-box transcription factor 10
severity
ISO
ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease ClinVar Annotator: match by term: PCWH Syndrome ClinVar Annotator: match by OMIM:609136
OMIM ClinVar
PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:28492532 , PMID:25959061
RGD:12802339
NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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Abhd12
abhydrolase domain containing 12, lysophospholipase
ISO
ClinVar Annotator: match by term: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract ClinVar Annotator: match by OMIM:612674
OMIM ClinVar
PMID:20797687 PMID:23806086 PMID:24088041 PMID:24697911 PMID:25741868 PMID:26257172 PMID:26467025 PMID:28492532 PMID:29571850
NCBI chr 3:146,630,298...146,690,375
Ensembl chr 3:146,630,299...146,690,375
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Dmxl2
Dmx-like 2
ISO
ClinVar Annotator: match by term: Polyendocrine-polyneuropathy syndrome
OMIM ClinVar
PMID:25248098
NCBI chr 8:58,932,575...59,077,788
Ensembl chr 8:58,932,580...59,077,690
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Rpia
ribose 5-phosphate isomerase A
ISO
ClinVar Annotator: match by term: Deficiency of ribose-5-phosphate isomerase
OMIM ClinVar
PMID:10589548 PMID:14988808 PMID:20499043 PMID:25741868 PMID:28492532 PMID:30088433 PMID:31056085
NCBI chr 4:98,568,028...98,593,664
Ensembl chr 4:98,568,028...98,593,664
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Elp1
elongator acetyltransferase complex subunit 1
ISO
ClinVar Annotator: match by term: Familial dysautonomia ClinVar Annotator: match by OMIM:223900
ClinVar OMIM
PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 PMID:12687659 PMID:16964593 PMID:17206408 PMID:18303054 PMID:20301359 PMID:22190446 PMID:22850346 PMID:23515154 PMID:24033266 PMID:24173031 PMID:24995671 PMID:25741868 PMID:26264438 PMID:26392352 PMID:27065010 PMID:27104957 PMID:27582484 PMID:28492532 , PMID:11179008 , PMID:11179021
RGD:5129156 , RGD:5129155
NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
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Bace1
beta-secretase 1
IEP
mRNA:decreased expression:dorsal root ganglion
RGD
PMID:28012171
RGD:13782150
NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
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Gdap1
ganglioside-induced differentiation-associated-protein 1
ISO
ClinVar Annotator: match by term: Sensory neuropathy
ClinVar
PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532
NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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Gjb1
gap junction protein, beta 1
ISO
ClinVar Annotator: match by term: Peripheral sensory neuropathy
ClinVar
PMID:25741868
NCBI chr X:71,272,030...71,279,973
Ensembl chr X:71,272,042...71,279,977
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Mir15b
microRNA 15b
IEP
RNA:increased expression:dorsal root ganglion:
RGD
PMID:28012171
RGD:13782150
NCBI chr 2:165,605,923...165,606,020
Ensembl chr 2:165,605,923...165,606,020
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Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Peripheral sensory neuropathy
ClinVar
PMID:7688964 PMID:8644725 PMID:8797476 PMID:10581375 PMID:10737979 PMID:11437164 PMID:12221176 PMID:12477701 PMID:20215982 PMID:20461396 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
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Scn11a
sodium voltage-gated channel alpha subunit 11
ISO
ClinVar Annotator: match by term: Sensory neuropathy
ClinVar
PMID:28492532 PMID:32581362
NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
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Sptlc3
serine palmitoyltransferase, long chain base subunit 3
ISO
ClinVar Annotator: match by term: Sensory neuropathy
ClinVar
PMID:23806086 PMID:24088041 PMID:26257172
NCBI chr 3:132,560,437...132,689,313
Ensembl chr 3:132,560,506...132,692,737
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Abca1
ATP binding cassette subfamily A member 1
ISO
ClinVar Annotator: match by term: ABCA1 polymorphism ClinVar Annotator: match by term: Tangier disease ClinVar Annotator: match by OMIM:205400 CTD Direct Evidence: marker/mechanism DNA:mutations: :
ClinVar CTD OMIM
PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 PMID:10938021 PMID:11238261 PMID:11257261 PMID:11476961 PMID:11476965 PMID:11940086 PMID:12111381 PMID:12204794 PMID:12624133 PMID:12702168 PMID:12763760 PMID:15297675 PMID:15486467 PMID:15520867 PMID:15790791 PMID:15935359 PMID:16226177 PMID:16343503 PMID:16372134 PMID:16429166 PMID:16806540 PMID:16855366 PMID:16873719 PMID:17303779 PMID:17383594 PMID:17710129 PMID:18199144 PMID:18354102 PMID:18523221 PMID:18776170 PMID:19133158 PMID:19202195 PMID:19596329 PMID:19743957 PMID:20011639 PMID:20093111 PMID:20418488 PMID:20427018 PMID:20595220 PMID:20656214 PMID:20800056 PMID:21315358 PMID:21860089 PMID:21875686 PMID:22923419 PMID:22923420 PMID:22995991 PMID:23087442 PMID:23139370 PMID:23152888 PMID:23376243 PMID:23559627 PMID:23685560 PMID:23770607 PMID:24036952 PMID:24497850 PMID:24503134 PMID:24894453 PMID:25215231 PMID:25741868 PMID:26255038 PMID:26350511 PMID:27884173 PMID:28492532 PMID:28870971 PMID:29224928 PMID:29535370 , PMID:11086027 , PMID:15841208 , PMID:10431236
RGD:1600951 , RGD:19165130 , RGD:1298571
NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
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Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency
ClinVar
PMID:8282791
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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Slc25a19
solute carrier family 25 member 19
ISO
ClinVar Annotator: match by OMIM:613710 ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy
ClinVar OMIM
PMID:19798730
NCBI chr10:104,166,594...104,179,523
Ensembl chr10:104,166,598...104,179,523
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