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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 neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. (DO)
Synonyms:exact_synonym: HSAN;   HSAN (hereditary sensory autonomic neuropathy);   congenital sensory neuropathies;   congenital sensory neuropathy;   hereditary sensory and autonomic neuropathies;   hereditary sensory and autonomic neuropathy;   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
 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 chr14:96,991,853...97,004,732
Ensembl chr14:96,991,859...97,005,267 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO DNA:missensemutations:cds:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21532572 PMID:21532572 RGD:9588627 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Dst dystonin ISS MouseDO NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615 		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 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO Acral mutilation syndrome OMIA PMID:4725277 PMID:6203326 PMID:6259871 PMID:6574711 PMID:15842538 More... NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		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
RGD		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:21820098 PMID:25265257 RGD:12911225, RGD:12911226 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		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
RGD		 PMID:11668614 PMID:19651702 PMID:18077166 PMID:18322713 PMID:20647579 More... RGD:5684543, RGD:5684770, RGD:5684769, RGD:5684767, RGD:5684544 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Giaccai type acroosteolysis ClinVar NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207 		JBrowse link
G Retreg1 reticulophagy regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838196 NCBI chr 2:76,335,609...76,474,817 JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISS MouseDO NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		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:16865694 PMID:17347258 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903 		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 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		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 More... NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501 		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:9536098 PMID:11242106 PMID:11242114 PMID:11479835 PMID:12417569 More... NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295 		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 1A
ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type IA, severe		 OMIM
ClinVar		 PMID:9536098 PMID:11242106 PMID:11242114 PMID:11479835 PMID:12417569 More... NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295 		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 6:106,913,296...106,921,347
Ensembl chr 6:106,913,530...106,921,345 		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 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Ism2 isthmin 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:106,921,213...106,944,291
Ensembl chr 6:106,926,175...106,944,514 		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 6:106,862,350...106,888,113
Ensembl chr 6:106,862,343...106,884,712 		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 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849 		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 6:106,841,405...106,860,446
Ensembl chr 6:106,840,781...106,860,423 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IC
ClinVar Annotator: match by OMIM:613640		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19564159 PMID:20920666 PMID:23658386 More... NCBI chr 6:106,948,681...107,031,584
Ensembl chr 6:106,950,949...107,031,542 		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 6:106,806,973...106,841,271 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 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117 		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 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		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 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207 		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:25741868 PMID:28492532 NCBI chr 2:76,335,609...76,474,817 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 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		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 Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
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 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Neurogenic acroosteolysis ClinVar NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207 		JBrowse link
G Retreg1 reticulophagy regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:76,335,609...76,474,817 JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		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:9536098 PMID:10514109 PMID:10852559 PMID:10852560 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903 		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:9536098 PMID:15060842 PMID:15455397 PMID:15911806 PMID:16199547 More... NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		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:9536098 PMID:17576681 PMID:19838196 PMID:24327336 PMID:25741868 More... NCBI chr 2:76,335,609...76,474,817 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:18420729 PMID:19038341 PMID:19945432 PMID:20978020 More... NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		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 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044 		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:9536098 PMID:16199547 PMID:17576681 PMID:20164846 PMID:22522446 More... NCBI chr 9:36,135,657...36,529,617
Ensembl chr 9:36,135,284...36,529,615 		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 Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VII ClinVar PMID:28492532 NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614 		JBrowse link
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:9536098 PMID:17576681 PMID:24036948 PMID:24207120 PMID:24776970 More... NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VII ClinVar PMID:28492532 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		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:16199547 PMID:25741868 PMID:25891934 PMID:26005867 PMID:28050684 More... NCBI chr 3:14,928,651...14,943,341
Ensembl chr 3:14,928,628...14,943,331 		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:26467025 PMID:28166811 PMID:28492532 NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204 		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:9536098 PMID:10210919 PMID:17576681 PMID:21532572 More... NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Shfl shiftless antiviral inhibitor of ribosomal frameshifting ISO ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE ClinVar PMID:28492532 NCBI chr 8:19,408,298...19,414,084
Ensembl chr 8:19,408,333...19,413,971 		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:9536098 PMID:17576681 PMID:24459106 PMID:24736309 PMID:28166811 More... NCBI chr 1:204,680,958...204,727,360
Ensembl chr 1:204,680,968...204,723,354 		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:9536098 PMID:17576681 PMID:18414213 PMID:21376300 PMID:21820098 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
hereditary sensory neuropathy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714 		JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800 		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:9536098 PMID:10090906 More... NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810 		JBrowse link
hereditary spastic paraplegia 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive ClinVar PMID:28492532 NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 49		 OMIM
ClinVar		 PMID:23176824 PMID:25590979 PMID:25741868 PMID:26431026 PMID:26542466 More... NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974 		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
RGD		 PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 More... RGD:5129156, RGD:5129155 NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        Nervous System Malformations 1653
          hereditary sensory neuropathy 41
            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 + 14
            hereditary sensory and autonomic neuropathy type 2 + 11
            hereditary sensory and autonomic neuropathy type 5 2
            hereditary sensory and autonomic neuropathy type 6 1
            hereditary sensory and autonomic neuropathy type 7 3
            hereditary sensory and autonomic neuropathy type 8 1
            hereditary sensory neuropathy X-linked 0
            hereditary sensory neuropathy type 4 4
            hereditary spastic paraplegia 49 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          neurodegenerative disease 3521
            Nervous System Heredodegenerative Disorders 2133
              hereditary sensory neuropathy 41
                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 + 14
                hereditary sensory and autonomic neuropathy type 2 + 11
                hereditary sensory and autonomic neuropathy type 5 2
                hereditary sensory and autonomic neuropathy type 6 1
                hereditary sensory and autonomic neuropathy type 7 3
                hereditary sensory and autonomic neuropathy type 8 1
                hereditary sensory neuropathy X-linked 0
                hereditary sensory neuropathy type 4 4
                hereditary spastic paraplegia 49 2
paths to the root