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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:autonomic nervous system disease
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Accession:DOID:11465 term browser browse the term
Definition:A peripheral nervous system disease that is located_in the autonomic nervous system. (DO)
Synonyms:exact_synonym: ANS (autonomic nervous system) diseases;   ANS Disease;   ANS diseases;   AUTONOMIC NERVOUS SYSTEM DYSFUNCTION;   Autonomic Central Nervous System Diseases;   Autonomic Disease;   Autonomic Diseases;   Autonomic Nervous System Disorders;   Autonomic Peripheral Nervous System Diseases;   Disorders of the Autonomic Nervous System;   autonomic nervous system diseases;   autonomic nervous system disorder;   parasympathetic nervous system diseases;   segmental autonomic dysfunction;   segmental autonomic dysfunctions;   sympathetic nervous system diseases
 primary_id: MESH:D001342
 xref: EFO:0009532;   ICD9CM:337.1
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
autonomic nervous system disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Autonomic nervous system dysfunction ClinVar PMID:7881421 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9915973 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Gip gastric inhibitory polypeptide ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) RGD PMID:18376350 RGD:2312592 NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503 		JBrowse link
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655 PMID:14520668 PMID:14595656 PMID:16337195 PMID:32906214 More... NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:31708116 NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165 		JBrowse link
congenital central hypoventilation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar
RGD		 PMID:11840487 PMID:25741868 PMID:28492532 PMID:11840487 RGD:734643 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome		 CTD
ClinVar		 PMID:8696331 PMID:19556619 PMID:24033266 PMID:28492532 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GDNF-related condition		 CTD
ClinVar		 PMID:8896568 PMID:8896569 PMID:9215674 PMID:9359036 PMID:9497256 More... NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Phox2b paired-like homeobox 2b ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: ONDINE CURSE, CONGENITAL | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation
OMIM:209880
DNA:duplication: :c.691_698dup (human)
DNA:repeats		 CTD
ClinVar
MouseDO
RGD		 PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... RGD:11058834, RGD:12910557 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation		 CTD
ClinVar		 PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Tlx3 T-cell leukemia, homeobox 3 ISS OMIM:209880 MouseDO NCBI chr10:17,789,706...17,792,207
Ensembl chr10:17,790,053...17,792,207 		JBrowse link
Congenital Central Hypoventilation Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Phox2b paired-like homeobox 2b susceptibility ISO ClinVar Annotator: match by term: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1 | ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome ClinVar
OMIM		 PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1h myosin IH ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM
ClinVar		 PMID:25741868 PMID:28779001 NCBI chr12:42,248,942...42,300,103
Ensembl chr12:42,247,138...42,323,730 		JBrowse link
Congenital Central Hypoventilation Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbx1 ladybird homeobox 1 ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 OMIM
ClinVar		 PMID:30487221 NCBI chr 1:244,083,873...244,085,690
Ensembl chr 1:244,083,873...244,085,690 		JBrowse link
dopamine beta-hydroxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbh dopamine beta-hydroxylase ISO
ISS		 OMIM:223360
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Orthostatic hypotension 1		 OMIM
MouseDO
CTD
ClinVar		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ECE1-related condition | ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction		 CTD
OMIM
ClinVar		 PMID:8530372 PMID:9915973 PMID:25741868 PMID:28492532 PMID:34298581 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
multiple system atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambra1 autophagy and beclin 1 regulator 1 ISO protein:increased expression:brain RGD PMID:27875637 RGD:14390070 NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple system atrophy		 CTD
ClinVar		 PMID:17420317 PMID:23758206 PMID:24988567 PMID:24988568 PMID:24988569 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:22281106 RGD:5688775 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Igf2 insulin-like growth factor 2 severity ISO RGD PMID:20683839 RGD:5509960 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Multiple system atrophy, cerebellar type ClinVar PMID:25741868 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mir96 microRNA 96 ISO RNA:increased expression:frontal cortex: RGD PMID:24304186 PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 4:58,788,411...58,788,516
Ensembl chr 4:58,788,411...58,788,516 		JBrowse link
G Mt3 metallothionein 3 ISO protein: increased expression: visual cortex RGD PMID:20039155 RGD:6480516 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:oligodendrocyte RGD PMID:9749615 RGD:6480091 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
Multiple System Atrophy (MSA) with Orthostatic Hypotension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: COQ2-related condition | ClinVar Annotator: match by term: Multiple system atrophy (MSA) with orthostatic hypotension | ClinVar Annotator: match by term: Multiple system atrophy 1, susceptibility to ClinVar
OMIM		 PMID:9536098 PMID:16400613 PMID:17420317 PMID:17576681 PMID:17855635 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy (MSA) with orthostatic hypotension ClinVar PMID:25741868 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfasc neurofascin ISO ClinVar Annotator: match by term: NFASC-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with central and peripheral motor dysfunction OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28940097 PMID:30124836 PMID:30850329 More... NCBI chr13:43,997,223...44,183,863
Ensembl chr13:43,997,224...44,183,880 		JBrowse link
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO DNA:missense mutations:cds:725G>A,457A>G(human) RGD PMID:21465257 RGD:10054301 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
Olivopontocerebellar Atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn1 ataxin 1 ISO ClinVar Annotator: match by term: Spinocerebellar atrophy 1 ClinVar PMID:25741868 PMID:37091313 NCBI chr17:18,737,491...19,142,360
Ensembl chr17:18,737,533...19,142,360 		JBrowse link
Orthostatic Hypotension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12082591 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Gnas GNAS complex locus susceptibility ISO DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gnb3 G protein subunit beta 3 susceptibility ISO DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO RGD PMID:10449650 RGD:1581056 NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Oprd1 opioid receptor, delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 5:144,306,188...144,340,960
Ensembl chr 5:144,306,188...144,340,960 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
Orthostatic Hypotension 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb561 cytochrome b-561 ISO ClinVar Annotator: match by term: Orthostatic hypotension 2 OMIM
ClinVar		 PMID:29343526 NCBI chr10:90,878,052...90,888,734
Ensembl chr10:90,878,054...90,884,787 		JBrowse link
Orthostatic Intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a2 solute carrier family 6 member 2 ISO ClinVar Annotator: match by term: SLC6A2-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11458707 PMID:25741868 PMID:28492532 NCBI chr19:14,010,292...14,055,317
Ensembl chr19:14,010,386...14,050,357 		JBrowse link
paroxysmal extreme pain disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Paroxysmal extreme pain disorder ClinVar PMID:25741868 PMID:34298581 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Paroxysmal extreme pain disorder | ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15955112 PMID:17145499 PMID:17679678 PMID:18060017 PMID:18414213 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
Primary Dysautonomias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Dysautonomia ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12673791 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749843 NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811 		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
ISS		 ClinVar Annotator: match by term: ELP1-related condition | ClinVar Annotator: match by term: Familial dysautonomia
OMIM:223900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
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
Shy-Drager Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6850280 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Shy-Drager syndrome ClinVar PMID:17420317 PMID:23758206 PMID:24988567 PMID:25548529 PMID:25594503 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Shy-Drager syndrome ClinVar PMID:25741868 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
spinocerebellar ataxia type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236 		JBrowse link
G Tbp TATA box binding protein ISO
ISS		 OMIM:607136
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spinocerebellar ataxia type 17		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:25741868 PMID:23699518 RGD:9681730 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
spinocerebellar ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 ISO
ISS		 ClinVar Annotator: match by term: Spinocerebellar ataxia type 2
OMIM:183090		 ClinVar
OMIM
MouseDO		 PMID:25741868 NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479 		JBrowse link
striatal degeneration 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde10a phosphodiesterase 10A ISO ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 2 OMIM
ClinVar		 PMID:25741868 PMID:27058447 PMID:28492532 PMID:29159890 PMID:29165877 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
Striatonigral Degeneration, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset | ClinVar Annotator: match by term: VAC14-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17956977 PMID:25741868 PMID:27292112 More... NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909 		JBrowse link
Striatonigral Degeneration, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4i1 interleukin 4 induced 1 ISO ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: NUP62-related condition ClinVar PMID:16786527 PMID:25741868 PMID:28492532 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Nup62 nucleoporin 62 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: NUP62-related condition		 OMIM
CTD
ClinVar		 PMID:16786527 PMID:25741868 PMID:28492532 NCBI chr 1:95,298,995...95,314,902
Ensembl chr 1:95,295,526...95,315,174 		JBrowse link
Striatonigral Degeneration, Infantile, Mitochondrial 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: Striatonigral degeneration, infantile, mitochondrial ClinVar PMID:7668837 PMID:8554662 PMID:9270604 PMID:9501263 PMID:9631394 More... NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
Vasovagal Syncope term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nppb natriuretic peptide B ISO associated with Syncope;protein:increased expression:serum: RGD PMID:23373852 RGD:7247623 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858 		JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:26633542 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911 		JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:106,708,454...106,720,607
Ensembl chr  X:106,714,868...106,719,794 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        autonomic nervous system disease 76
          Adie syndrome 0
          Autonomic Dysreflexia 0
          Frey syndrome 0
          Harlequin Syndrome 0
          Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
          Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 1
          Peripheral Motor Neuropathy with Dysautonomia 0
          Plexosarcoma 0
          Primary Dysautonomias + 55
          autonomic neuropathy + 1
          complex regional pain syndrome + 0
          congenital central hypoventilation syndrome + 10
          idiopathic peripheral autonomic neuropathy 0
          paroxysmal extreme pain disorder 2
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        peripheral nervous system disease 4382
          autonomic nervous system disease 76
            Adie syndrome 0
            Autonomic Dysreflexia 0
            Frey syndrome 0
            Harlequin Syndrome 0
            Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
            Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 1
            Peripheral Motor Neuropathy with Dysautonomia 0
            Plexosarcoma 0
            Primary Dysautonomias + 55
            autonomic neuropathy + 1
            complex regional pain syndrome + 0
            congenital central hypoventilation syndrome + 10
            idiopathic peripheral autonomic neuropathy 0
            paroxysmal extreme pain disorder 2
paths to the root