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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:hereditary sensory neuropathy
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Accession:DOID:0050548 term browser browse the term
Definition:A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)
Synonyms:exact_synonym: Congenital Sensory Neuropathy;   Giaccai Type Acroosteolysis;   HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY;   HSAN;   HSAN (hereditary sensory autonomic neuropathy);   congenital sensory neuropathies;   hereditary sensory and autonomic neuropathies;   hereditary sensory neuropathies;   hereditary sensory radicular neuropathy;   hereditary sensory radicular neuropathy, autosomal dominant;   hereditary sensory radicular neuropathy, autosomal recessive;   hereditary sensory radicular neuropathy, recessive form
 narrow_synonym: AMS;   acral mutilation syndrome
 primary_id: MESH:D009477
 alt_id: OMIA:001514;   RDO:0000851
 xref: OMIM:PS162400
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hereditary sensory neuropathy term browser
Symbol Object Name 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
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name 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
hereditary sensory and autonomic neuropathy type 1 term browser
Symbol Object Name 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 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 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 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 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 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 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 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 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 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 type 1D term browser
Symbol Object Name 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 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 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 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 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
Riley-Day syndrome term browser
Symbol Object Name 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        Nervous System Malformations 1053
          hereditary sensory neuropathy 27
            CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
            Cervical Hypertrichosis Neuropathy 0
            Hamanishi Ueba Tsuji Syndrome 0
            Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia 0
            Riley-Day syndrome + 1
            atypical hereditary sensory neuropathy 0
            hereditary sensory and autonomic neuropathy type 1 + 13
            hereditary sensory and autonomic neuropathy type 2 + 5
            hereditary sensory and autonomic neuropathy type 5 2
            hereditary sensory and autonomic neuropathy type 6 1
            hereditary sensory and autonomic neuropathy type 7 1
            hereditary sensory and autonomic neuropathy type 8 1
            hereditary sensory neuropathy X-linked 0
            hereditary sensory neuropathy type 4 2
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              hereditary sensory neuropathy 27
                CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
                Cervical Hypertrichosis Neuropathy 0
                Hamanishi Ueba Tsuji Syndrome 0
                Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia 0
                Riley-Day syndrome + 1
                atypical hereditary sensory neuropathy 0
                hereditary sensory and autonomic neuropathy type 1 + 13
                hereditary sensory and autonomic neuropathy type 2 + 5
                hereditary sensory and autonomic neuropathy type 5 2
                hereditary sensory and autonomic neuropathy type 6 1
                hereditary sensory and autonomic neuropathy type 7 1
                hereditary sensory and autonomic neuropathy type 8 1
                hereditary sensory neuropathy X-linked 0
                hereditary sensory neuropathy type 4 2
paths to the root