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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:Diseases of the parasympathetic or sympathetic divisions of the AUTONOMIC NERVOUS SYSTEM; which has components located in the CENTRAL NERVOUS SYSTEM and PERIPHERAL NERVOUS SYSTEM. Autonomic dysfunction may be associated with HYPOTHALAMIC DISEASES; BRAIN STEM disorders; SPINAL CORD DISEASES; and PERIPHERAL NERVOUS SYSTEM DISEASES. Manifestations include impairments of vegetative functions including the maintenance of BLOOD PRESSURE; HEART RATE; pupil function; SWEATING; REPRODUCTIVE AND URINARY PHYSIOLOGY; and DIGESTION.
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;   Parasympathetic Nervous System Diseases;   autonomic nervous system diseases;   autonomic nervous system disorder;   segmental autonomic dysfunction;   segmental autonomic dysfunctions;   sympathetic nervous system diseases
 primary_id: MESH:D001342
 alt_id: RDO:0000819
 xref: 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 7:141,291,974...141,296,464
Ensembl chr 7:141,292,006...141,296,464
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9915973 NCBI chr 4:137,862,237...137,965,229
Ensembl chr 4:137,862,237...137,965,229
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 chr11:96,024,532...96,030,831
Ensembl chr11:96,024,545...96,030,831
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 NADH dehydrogenase 6, mitochondrial ISO ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655, PMID:14520668, PMID:14595656, PMID:14684687, PMID:15576045, PMID:16337195 NCBI chr MT:13,552...14,070
Ensembl chr MT:13,552...14,070
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 polypeptide 3 ISO ClinVar Annotator: match by term: Acontractile detrusor
ClinVar Annotator: match by term: CHRNA3-related condition
ClinVar
OMIM
PMID:25741868, PMID:31708116 NCBI chr 9:55,010,117...55,026,562
Ensembl chr 9:55,010,111...55,026,562
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 Annotator: match by OMIM:209880
OMIM
ClinVar
PMID:14532329 NCBI chr10:87,490,819...87,493,660
Ensembl chr10:87,490,819...87,493,660
JBrowse link
G Bdnf brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487, PMID:25741868, PMID:11840487 RGD:734643 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Congenital central hypoventilation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8696331, PMID:19556619, PMID:24033266, PMID:28492532 NCBI chr 2:174,760,619...174,784,042
Ensembl chr 2:174,760,619...174,784,042
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital Ondine curse
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8896568, PMID:8896569, PMID:9215674, PMID:9497256, PMID:11565554, PMID:11823451, PMID:12640453, PMID:19184120, PMID:22729463, PMID:24033266 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr10:87,521,795...87,584,137
Ensembl chr10:87,521,795...87,584,136
JBrowse link
G Phox2b paired-like homeobox 2b ISO
IEA
ClinVar Annotator: match by term: Congenital central hypoventilation
OMIM:209880
DNA:duplication: :c.691_698dup (human)
DNA:repeats
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:12640453, PMID:14566559, PMID:14608649, PMID:14709596, PMID:15024693, PMID:15121777, PMID:15334515, PMID:15338462, PMID:16763219, PMID:16830328, PMID:16888290, PMID:17637745, PMID:17765533, PMID:18079495, PMID:19011468, PMID:20208042, PMID:20301600, PMID:24033266, PMID:24728327, PMID:25326635, PMID:25741868, PMID:26063465, PMID:28492532, PMID:29098737, PMID:29543228, PMID:30672101, PMID:24799442, PMID:19201717 RGD:11058834, RGD:12910557 NCBI chr 5:67,094,397...67,099,126
Ensembl chr 5:67,094,399...67,099,301
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital central hypoventilation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3078962, PMID:7824936, PMID:7835899, PMID:7907913, PMID:7915165, PMID:8099202, PMID:8626834, PMID:8640806, PMID:8797874, PMID:8896569, PMID:9067749, PMID:9090527, PMID:9174404, PMID:9230192, PMID:9452077, PMID:9497256, PMID:9498388, PMID:9502784, PMID:9839497, PMID:9868860, PMID:9879991, PMID:10049754, PMID:10090908, PMID:10618407, PMID:10826520, PMID:10876191, PMID:10921886, PMID:11114642, PMID:11238493, PMID:11732489, PMID:12019403, PMID:12086152, PMID:12410354, PMID:12566528, PMID:12640453, PMID:14557476, PMID:14633923, PMID:15184865, PMID:15386323, PMID:15741265, PMID:15858153, PMID:16118333, PMID:16325365, PMID:16532227, PMID:16839264, PMID:16849421, PMID:17108762, PMID:17316110, PMID:17384210, PMID:17466010, PMID:17590169, PMID:17605401, PMID:17704047, PMID:17895320, PMID:18058472, PMID:18062802, PMID:18063059, PMID:19445625, PMID:19958926, PMID:20013610, PMID:20039896, PMID:20041006, PMID:20369307, PMID:20456320, PMID:20473317, PMID:20497437, PMID:20516206, PMID:20532249, PMID:20979234, PMID:21134561, PMID:21479187, PMID:21711375, PMID:21810974, PMID:21995290, PMID:22174939, PMID:22274720, PMID:22584709, PMID:22648184, PMID:22703879, PMID:22729463, PMID:22837065, PMID:23084198, PMID:23259706, PMID:23341727, PMID:23468374, PMID:24033266, PMID:24055113, PMID:24134185, PMID:24336963, PMID:24361808, PMID:24617864, PMID:24728327, PMID:25425582, PMID:25440022, PMID:25501606, PMID:25637381, PMID:25741868, PMID:25759805, PMID:25810047, PMID:26034076, PMID:26071011, PMID:26559152, PMID:26580448, PMID:26845104, PMID:28125075, PMID:28492532, PMID:28946813, PMID:29625052 NCBI chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
JBrowse link
G Tlx3 T cell leukemia, homeobox 3 IEA OMIM:209880 MouseDO NCBI chr11:33,200,752...33,203,588
Ensembl chr11:33,200,752...33,203,589
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
IEA
ClinVar Annotator: match by term: Orthostatic hypotension 1
ClinVar Annotator: match by term: Dopamine beta hydroxylase deficiency
OMIM:223360
ClinVar Annotator: match by OMIM:223360
OMIM
ClinVar
MouseDO
PMID:11857564, PMID:14598346, PMID:15060114, PMID:21209083, PMID:21471955, PMID:22028891, PMID:24033266, PMID:25450229, PMID:25741868, PMID:26762739, PMID:27778639, PMID:28492532 NCBI chr 2:27,165,507...27,183,204
Ensembl chr 2:27,165,233...27,183,200
JBrowse link
G Hspa5 heat shock protein 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 2:34,772,090...34,776,529
Ensembl chr 2:34,771,970...34,777,547
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 OMIM:613870 OMIM
ClinVar
PMID:8530372, PMID:9915973 NCBI chr 4:137,862,237...137,965,229
Ensembl chr 4:137,862,237...137,965,229
JBrowse link
multiple system atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambra1 autophagy/beclin 1 regulator 1 ISO protein:increased expression:brain RGD PMID:27875637 RGD:14390070 NCBI chr 2:91,730,138...91,918,849
Ensembl chr 2:91,730,134...91,918,849
JBrowse link
G Coq2 coenzyme Q2 4-hydroxybenzoate 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 NCBI chr 5:100,654,723...100,674,288
Ensembl chr 5:100,654,723...100,675,140
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Gdnf glial cell line derived neurotrophic factor IDA RGD PMID:22281106 RGD:5688775 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Igf2 insulin-like growth factor 2 severity ISO RGD PMID:20683839 RGD:5509960 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 7:43,824,438...43,832,027
Ensembl chr 7:43,824,499...43,832,030
JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chr11:104,229,409...104,332,090
Ensembl chr11:104,231,390...104,332,090
JBrowse link
G Mir96 microRNA 96 IEP
ISO
RNA:increased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 6:30,169,446...30,169,551
Ensembl chr 6:30,169,446...30,169,551
JBrowse link
G Mt3 metallothionein 3 ISO protein: increased expression: visual cortex RGD PMID:20039155 RGD:6480516 NCBI chr 8:94,152,607...94,154,148
Ensembl chr 8:94,152,607...94,154,146
JBrowse link
G Slc1a1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 IEP
ISO
protein:decreased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr19:28,835,135...28,913,960
Ensembl chr19:28,835,049...28,913,960
JBrowse link
G Slc6a6 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 IEP
ISO
protein:decreased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 6:91,684,048...91,759,063
Ensembl chr 6:91,684,053...91,759,066
JBrowse link
G Snca synuclein, alpha ISO protein:increased expression:oligodendrocyte RGD PMID:9749615 RGD:6480091 NCBI chr 6:60,731,573...60,829,855
Ensembl chr 6:60,731,575...60,829,855
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:28940097, PMID:30124836, PMID:30850329 NCBI chr 1:132,564,690...132,741,848
Ensembl chr 1:132,564,690...132,741,797
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 4:40,682,078...40,721,667
Ensembl chr 4:40,682,382...40,703,194
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr11:115,813,728...115,823,102
Ensembl chr11:115,814,724...115,823,094
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, sub-family B (MDR/TAP), member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12082591 NCBI chr 5:8,567,091...8,748,575
Ensembl chr 5:8,660,077...8,748,575
JBrowse link
G Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus sussceptibility ISO DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chr 2:174,284,320...174,346,744
Ensembl chr 2:174,284,320...174,346,744
JBrowse link
G Gnb3 guanine nucleotide binding protein (G protein), beta 3 susceptibility ISO DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chr 6:124,834,240...124,840,275
Ensembl chr 6:124,834,240...124,840,275
JBrowse link
G mt-Nd2 NADH dehydrogenase 2, mitochondrial ISO RGD PMID:10449650 RGD:1581056 NCBI chr MT:3,914...4,951
Ensembl chr MT:3,914...4,951
JBrowse link
G Oprd1 opioid receptor, delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 4:132,110,188...132,144,486
Ensembl chr 4:132,110,726...132,144,486
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr10:6,758,593...7,038,209
Ensembl chr10:6,758,506...7,038,198
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 ClinVar
OMIM
NCBI chr11:105,933,702...105,945,019
Ensembl chr11:105,933,702...105,953,336
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 (neurotransmitter transporter, noradrenalin), member 2 ISO ClinVar Annotator: match by OMIM:604715
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10684912, PMID:11458707, PMID:11875370 NCBI chr 8:92,960,470...93,001,667
Ensembl chr 8:92,960,079...93,001,667
JBrowse link
paroxysmal extreme pain disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by OMIM:167400
ClinVar Annotator: match by term: Paroxysmal extreme pain disorder
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL
ClinVar
CTD
OMIM
PMID:15955112, PMID:17145499, PMID:17679678, PMID:18414213, PMID:18518989, PMID:18599537, PMID:19369487, PMID:19763161, PMID:21094958, PMID:21115638, PMID:21698661, PMID:21939494, PMID:22035805, PMID:22136189, PMID:22539570, PMID:22604722, PMID:22826602, PMID:22995991, PMID:23129781, 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:25316021, PMID:25333069, PMID:25741868, PMID:25852444, PMID:25993546, PMID:26264438, PMID:26284228, PMID:26392352, PMID:26467025, PMID:26633545, PMID:26675522, PMID:26920677, PMID:27504264, PMID:27843123, PMID:27884173, PMID:27956748, PMID:28073787, PMID:28235406, PMID:28440294, PMID:28492532, PMID:28590052, PMID:29176367, PMID:29264398, PMID:29358611, PMID:29500686, PMID:29911575, PMID:30311386, PMID:30316835, PMID:30642272, PMID:30834459 NCBI chr 2:66,480,080...66,635,114
Ensembl chr 2:66,480,080...66,634,962
JBrowse link
postural orthostatic tachycardia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a2 solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 ISS OMIM:604715 MouseDO NCBI chr 8:92,960,470...93,001,667
Ensembl chr 8:92,960,079...93,001,667
JBrowse link
Primary Dysautonomias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpsab1 tryptase alpha/beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749843 NCBI chr17:25,343,245...25,345,562
Ensembl chr17:25,343,245...25,345,562
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Dysautonomia ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15025721, PMID:15325563, PMID:15326663, PMID:17296898, PMID:17405132, PMID:18641288, PMID:18665195, PMID:19881469, PMID:20145675, PMID:20301515, PMID:21174530, PMID:21234346, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24607488, PMID:24944099, PMID:25097241, PMID:25404053, PMID:25649381, PMID:25741868, PMID:26633545, PMID:26872967, PMID:28041643, PMID:28492532, PMID:29953849, PMID:30718709 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
JBrowse link
Riley-Day syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp1 elongator complex protein 1 ISO
IEA
ClinVar Annotator: match by term: Familial dysautonomia
OMIM:223900
ClinVar Annotator: match by OMIM:223900
ClinVar
MouseDO
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 4:56,746,547...56,802,569
Ensembl chr 4:56,749,680...56,802,331
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 2:130,580,620...130,582,588
Ensembl chr 2:130,580,620...130,582,554
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 IEA
ISO
OMIM:183090
ClinVar Annotator: match by term: Spinocerebellar ataxia 2
MouseDO
ClinVar
OMIM
NCBI chr 5:121,711,609...121,814,950
Ensembl chr 5:121,711,337...121,816,493
JBrowse link
striatonigral degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup62 nucleoporin 62 ISS OMIM:271930 | OMIM:500003 | OMIM:609161 MouseDO NCBI chr 7:44,816,088...44,831,836
Ensembl chr 7:44,816,088...44,830,812
JBrowse link
G Pde8b phosphodiesterase 8B ISS OMIM:271930 | OMIM:500003 | OMIM:609161 MouseDO NCBI chr13:95,024,105...95,250,401
Ensembl chr13:95,024,454...95,250,336
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 homolog (S. cerevisiae) ISO ClinVar Annotator: match by OMIM:617054
ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset
ClinVar
OMIM
PMID:25741868, PMID:27292112 NCBI chr 8:110,618,529...110,720,398
Ensembl chr 8:110,618,585...110,720,398
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: Striatonigral degeneration infantile ClinVar PMID:16786527 NCBI chr 7:44,836,288...44,840,809
Ensembl chr 7:44,816,387...44,840,809
JBrowse link
G Nup62 nucleoporin 62 ISO ClinVar Annotator: match by term: Striatonigral degeneration infantile
ClinVar Annotator: match by OMIM:271930
OMIM
ClinVar
PMID:16786527 NCBI chr 7:44,816,088...44,831,836
Ensembl chr 7:44,816,088...44,830,812
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 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Striatonigral degeneration, infantile, mitochondrial ClinVar PMID:7668837, PMID:8554662, PMID:9270604, PMID:9501263, PMID:9631394, PMID:17663470, PMID:22789932, PMID:23206802, PMID:24002810 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
Vasovagal Syncope term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nppb natriuretic peptide type B ISO associated with Syncope;protein:increased expression:serum: RGD PMID:23373852 RGD:7247623 NCBI chr 4:147,985,786...147,987,205
Ensembl chr 4:147,985,788...147,987,205
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, sub-family B (MDR/TAP), member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:104,280,565...104,413,846
Ensembl chr  X:104,280,657...104,413,856
JBrowse link
G Amer1 APC membrane recruitment 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:95,420,313...95,444,840
Ensembl chr  X:95,420,318...95,444,872
JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked 1
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:10797423, PMID:22912398, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr  X:73,502,749...73,573,275
Ensembl chr  X:73,503,086...73,571,005
JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:106,027,224...106,128,161
Ensembl chr  X:106,027,276...106,124,926
JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:101,849,261...102,092,055
Ensembl chr  X:101,849,385...102,092,055
JBrowse link
G Phka1 phosphorylase kinase alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:102,513,975...102,644,301
Ensembl chr  X:102,513,975...102,644,246
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:143,058,276...143,105,330
Ensembl chr  X:143,099,594...143,104,297
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      nervous system disease 10459
        autonomic nervous system disease 56
          Adie syndrome 0
          Autonomic Dysreflexia 0
          Frey syndrome 0
          Harlequin Syndrome 0
          Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
          Motor Neuropathy Peripheral with Dysautonomia 0
          Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 1
          Plexosarcoma 0
          Primary Dysautonomias + 43
          autonomic neuropathy + 1
          complex regional pain syndrome + 0
          congenital central hypoventilation syndrome 8
          idiopathic peripheral autonomic neuropathy 0
          paroxysmal extreme pain disorder 1
Path 2
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      nervous system disease 10459
        peripheral nervous system disease 2503
          autonomic nervous system disease 56
            Adie syndrome 0
            Autonomic Dysreflexia 0
            Frey syndrome 0
            Harlequin Syndrome 0
            Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
            Motor Neuropathy Peripheral with Dysautonomia 0
            Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 1
            Plexosarcoma 0
            Primary Dysautonomias + 43
            autonomic neuropathy + 1
            complex regional pain syndrome + 0
            congenital central hypoventilation syndrome 8
            idiopathic peripheral autonomic neuropathy 0
            paroxysmal extreme pain disorder 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.