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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
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Accession:DOID:1389 term browser 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.

show annotations for term's descendants           Sort by:
 
polyneuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
adult-onset ataxia and polyneuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
alcoholic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
chronic inflammatory demyelinating polyradiculoneuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
demyelinating polyneuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Guillain-Barre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator ISS OMIM:139393 MouseDO NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Cd86 CD86 molecule ISS OMIM:139393 MouseDO NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
hereditary sensory and autonomic neuropathy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hereditary sensory and autonomic neuropathy type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hereditary sensory and autonomic neuropathy type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
hereditary sensory and autonomic neuropathy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
hereditary sensory and autonomic neuropathy type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
hereditary sensory and autonomic neuropathy type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hereditary sensory and autonomic neuropathy type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
hereditary sensory and autonomic neuropathy type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hereditary sensory and autonomic neuropathy type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hereditary sensory and autonomic neuropathy type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hereditary sensory neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G Dst dystonin ISS MouseDO NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
hereditary sensory neuropathy type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hereditary sensory neuropathy type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hereditary sensory neuropathy type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hereditary sensory neuropathy type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
hereditary sensory neuropathy type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
Leukoencephalopathy with Dystonia and Motor Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
MITCHELL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
PCWH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISS OMIM:609136 MouseDO NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
PHARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Polyendocrine-Polyneuropathy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Ribose 5-Phosphate Isomerase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Riley-Day syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
sensory peripheral neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Tangier disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          polyneuropathy 84
            46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 1
            Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 0
            Leukoencephalopathy with Dystonia and Motor Neuropathy 1
            PCWH syndrome 3
            PHARC syndrome 1
            POEMS syndrome 0
            Polyendocrine-Polyneuropathy Syndrome 1
            Ribose 5-Phosphate Isomerase Deficiency 1
            Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 0
            Severe Infantile Axonal Neuropathy 0
            Tangier disease 2
            Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) 1
            Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 0
            adult-onset ataxia and polyneuropathy 1
            alcoholic neuropathy 3
            chronic polyneuropathy + 0
            demyelinating polyneuropathy + 5
            hereditary sensory neuropathy + 27
            idiopathic progressive polyneuropathy 0
            paraneoplastic polyneuropathy 0
            polyneuropathy in collagen vascular disease 0
            polyradiculoneuropathy + 19
            sensory peripheral neuropathy 7
paths to the root