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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
G ECE1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9915973 NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114 		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 chr 9:25,167,938...25,174,402
Ensembl chr 9:25,167,926...25,174,575 		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:13,582...14,109
Ensembl chr MT:13,582...14,109 		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 susceptibility 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 chr13:38,330,287...38,343,142
Ensembl chr13:38,328,814...38,346,246 		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 chr15:41,694,021...41,696,933
Ensembl chr15:41,694,269...41,695,391 		JBrowse link
G BDNF brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487 PMID:25741868 PMID:28492532 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome ClinVar PMID:8696331 PMID:19556619 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr24:44,024,553...44,054,727
Ensembl chr24:44,033,419...44,054,050 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9497256 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation ClinVar PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854 		JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
G TLX3 T cell leukemia homeobox 3 ISO OMIM:209880 MouseDO NCBI chr 4:40,816,351...40,818,582
Ensembl chr 4:40,816,467...40,818,723 		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 chr15:41,694,021...41,696,933
Ensembl chr15:41,694,269...41,695,391 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		JBrowse link
G PHOX2B paired like homeobox 2B ISO 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 chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854 		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 chr26:17,626,161...17,669,772
Ensembl chr26:17,626,121...17,729,757 		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 chr28:13,872,846...13,875,521
Ensembl chr28:13,873,727...13,875,486 		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 ClinVar Annotator: match by term: Orthostatic hypotension 1 OMIM
ClinVar		 PMID:7715704 PMID:9536098 PMID:11170900 PMID:11857564 PMID:14598346 More... NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257 		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 ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction ClinVar
OMIM		 PMID:8530372 PMID:9915973 PMID:25741868 PMID:34298581 NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114 		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 chr18:42,903,815...43,073,918
Ensembl chr18:42,932,513...43,072,827 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:17420317 PMID:23758206 PMID:24988567 PMID:24988568 PMID:24988569 More... NCBI chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764 		JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:22281106 RGD:5688775 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714 		JBrowse link
G IGF2 insulin like growth factor 2 severity ISO RGD PMID:20683839 RGD:5509960 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G KLK6 kallikrein related peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:105,902,147...105,907,585 JBrowse link
G MAPT microtubule associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Multiple system atrophy, cerebellar type ClinVar PMID:25741868 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
G MIR96 microRNA mir-96 ISO RNA:increased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842 		JBrowse link
G MT-III transcription initiation factor TFIID subunit 4 ISO protein: increased expression: visual cortex RGD PMID:20039155 RGD:6480516 NCBI chr 2:59,624,845...59,630,386 JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260 		JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chr20:4,544,739...4,616,797
Ensembl chr20:4,531,771...4,620,605 		JBrowse link
G SNCA synuclein alpha ISO protein:increased expression:oligodendrocyte RGD PMID:9749615 RGD:6480091 NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383 		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 OMIM
ClinVar		 PMID:16400613 PMID:17420317 PMID:17855635 PMID:23758206 PMID:24988567 More... NCBI chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764 		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 chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349 		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: Neurodevelopmental disorder with central and peripheral motor dysfunction OMIM
ClinVar		 PMID:25741868 PMID:28940097 PMID:30124836 PMID:30850329 PMID:31501903 NCBI chr38:1,367,128...1,546,909
Ensembl chr38:1,366,251...1,543,630 		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 chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284 		JBrowse link
G CFAP96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chr16:45,175,351...45,208,647
Ensembl chr16:45,192,032...45,207,964 		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 chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chr16:45,208,741...45,230,041
Ensembl chr16:45,208,863...45,229,996 		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 NCBI chr35:15,458,498...15,863,829
Ensembl chr35:15,452,135...15,649,747 		JBrowse link
Orthostatic Hypotension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12082591 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Orthostatic hypotension ClinVar NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527 		JBrowse link
G GNAS GNAS complex locus susceptibility ISO DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657 		JBrowse link
G GNB3 G protein subunit beta 3 susceptibility ISO DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chr27:38,175,928...38,182,473
Ensembl chr27:38,175,931...38,181,763 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO RGD PMID:10449650 RGD:1581056 NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957 		JBrowse link
G OPRD1 opioid receptor delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 2:71,685,129...71,721,692
Ensembl chr 2:71,689,084...71,721,875 		JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 1:43,972,915...44,037,477
Ensembl chr 1:43,972,219...44,141,238 		JBrowse link
Orthostatic Hypotension 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYB561 cytochrome b561 ISO ClinVar Annotator: match by term: Orthostatic hypotension 2 OMIM
ClinVar		 NCBI chr 9:11,461,738...11,474,413
Ensembl chr 9:11,463,585...11,468,282 		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 OMIM
ClinVar		 NCBI chr 2:60,319,304...60,362,532
Ensembl chr 2:60,318,999...60,363,120 		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 chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219 		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 OMIM
ClinVar		 PMID:15955112 PMID:17145499 PMID:18414213 PMID:18518989 PMID:18599537 More... NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255 		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:12707442 More... NCBI chr 5:55,718,209...55,786,175
Ensembl chr 5:55,718,510...55,744,809 		JBrowse link
G LOC100049001 tryptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749843 NCBI chr 6:39,505,485...39,506,909 JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Dysautonomia ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		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 OMIM
ClinVar		 PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 More... NCBI chr11:64,035,667...64,094,402
Ensembl chr11:64,037,506...64,093,819 		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 chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883 		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 chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764 		JBrowse link
G MAPT microtubule associated protein tau ISO ClinVar Annotator: match by term: Shy-Drager syndrome ClinVar PMID:25741868 NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349 		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 chr10:870,405...876,937
Ensembl chr10:870,392...909,161 		JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 5:11,292,219...11,296,851
Ensembl chr 5:11,292,262...11,296,797 		JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 5:14,795,750...14,808,203
Ensembl chr 5:14,795,750...14,807,262 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:427,827...436,880
Ensembl chr 9:427,830...436,064 		JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397 		JBrowse link
G TBP TATA-box binding protein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 ClinVar
OMIM		 PMID:25741868 NCBI chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124 		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 susceptibility ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 ClinVar
OMIM		 PMID:25741868 NCBI chr26:9,073,667...9,188,429
Ensembl chr26:9,073,809...9,188,414 		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 OMIM
ClinVar		 PMID:25741868 PMID:27292112 PMID:28492532 NCBI chr 5:76,635,931...76,737,414
Ensembl chr 5:76,636,355...76,737,353 		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: Striatonigral degeneration infantile ClinVar PMID:16786527 PMID:25741868 PMID:28492532 NCBI chr 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422 		JBrowse link
G NUP62 nucleoporin 62 ISO ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatonigral degeneration infantile OMIM
ClinVar		 PMID:16786527 PMID:25741868 PMID:28492532 NCBI chr 1:106,636,282...106,661,250 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:7,964...8,644
Ensembl chr MT:7,964...8,644 		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 2:84,395,844...84,397,473 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:58,305,804...58,470,827
Ensembl chr  X:58,306,776...58,471,417 		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:49,426,228...49,449,448 JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia OMIM
ClinVar		 PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:25741913 More... NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869 		JBrowse link
G NHSL2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:56,078,560...56,203,105
Ensembl chr  X:55,954,435...56,197,319 		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:56,579,538...56,758,293
Ensembl chr  X:56,581,435...56,757,905 		JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:83,639,071...83,650,359
Ensembl chr  X:83,643,872...83,650,356 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        autonomic nervous system disease 72
          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 + 56
          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 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        peripheral nervous system disease 4038
          autonomic nervous system disease 72
            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 + 56
            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