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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 IAGP ClinVar Annotator: match by term: Autonomic nervous system dysfunction ClinVar PMID:7881421 NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
JBrowse link
G ECE1 endothelin converting enzyme 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9915973 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
G GIP gastric inhibitory polypeptide IEP associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) RGD PMID:18376350 RGD:2312592 NCBI chr17:48,958,554...48,968,596
Ensembl chr17:48,958,554...48,968,596
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 IAGP 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:14,149...14,673
Ensembl chr MT:14,149...14,673
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 IAGP ClinVar Annotator: match by term: Acontractile detrusor
ClinVar Annotator: match by term: CHRNA3-related condition
ClinVar
OMIM
PMID:25741868 PMID:31708116 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295
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 IAGP ClinVar Annotator: match by term: Haddad syndrome
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar
OMIM
PMID:14532329 NCBI chr12:102,957,674...102,960,513
Ensembl chr12:102,957,674...102,960,513
JBrowse link
G BDNF brain derived neurotrophic factor IAGP ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487 PMID:25741868, PMID:11840487 RGD:734643 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G BDNF-AS BDNF antisense RNA IAGP ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487 PMID:25741868 NCBI chr11:27,506,852...27,698,171
Ensembl chr11:27,506,830...27,698,231
JBrowse link
G EDN3 endothelin 3 IAGP
EXP
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 chr20:59,300,415...59,325,992
Ensembl chr20:59,300,443...59,325,992
JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP
EXP
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 chr 5:37,812,677...37,840,044
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G LOC110011216 paired like homeobox 2b polyalanine repeat instability region IAGP ClinVar Annotator: match by term: Haddad syndrome
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 PMID:15334515 PMID:16830328 PMID:18079495 PMID:20208042 PMID:20301600 PMID:24033266 PMID:25741868 PMID:26063465 PMID:28492532 NCBI chr 4:41,745,975...41,746,028 JBrowse link
G PAH phenylalanine hydroxylase IAGP ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
JBrowse link
G PHOX2B paired like homeobox 2B IAGP
EXP
DNA:repeats
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar Annotator: match by term: Haddad syndrome
CTD Direct Evidence: marker/mechanism
DNA:duplication: :c.691_698dup (human)
ClinVar
CTD
OMIM
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:19201717, PMID:24799442 RGD:12910557, RGD:11058834 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
JBrowse link
G PHOX2B-AS1 PHOX2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar Annotator: match by term: Haddad syndrome
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29543228 NCBI chr 4:41,748,293...41,855,261 JBrowse link
G RET ret proto-oncogene IAGP
EXP
ClinVar Annotator: match by term: Congenital central hypoventilation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G TLX3 T cell leukemia homeobox 3 ISS OMIM:209880 MouseDO NCBI chr 5:171,309,248...171,312,139
Ensembl chr 5:171,309,248...171,312,139
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 IAGP ClinVar Annotator: match by term: Dopamine beta hydroxylase deficiency
ClinVar Annotator: match by term: Orthostatic hypotension 1
ClinVar
OMIM
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 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
JBrowse link
G DBH-AS1 DBH antisense RNA 1 IAGP ClinVar Annotator: match by term: Dopamine beta hydroxylase deficiency
ClinVar Annotator: match by term: Orthostatic hypotension 1
ClinVar PMID:22028891 PMID:25450229 PMID:28492532 NCBI chr 9:133,654,587...133,657,408
Ensembl chr 9:133,654,586...133,657,313
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 IAGP RGD PMID:21209083 RGD:5685690 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,343
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 IAGP ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction ClinVar
OMIM
PMID:8530372 PMID:9915973 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
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 IEP protein:increased expression:brain RGD PMID:27875637 RGD:14390070 NCBI chr11:46,396,412...46,594,055
Ensembl chr11:46,396,414...46,594,125
JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase EXP
IAGP
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 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914
JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:22281106 RGD:5688775 NCBI chr 5:37,812,677...37,840,044
Ensembl chr 5:37,812,677...37,840,041
JBrowse link
G IGF2 insulin like growth factor 2 severity IEP RGD PMID:20683839 RGD:5509960 NCBI chr11:2,129,112...2,149,603
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G KLK6 kallikrein related peptidase 6 IAGP RGD PMID:12928483 RGD:1358597 NCBI chr19:50,958,631...50,969,598
Ensembl chr19:50,958,631...50,969,673
JBrowse link
G MAPT microtubule associated protein tau IAGP ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chr17:45,894,538...46,028,334
Ensembl chr17:45,894,551...46,028,334
Ensembl chr17:45,894,551...46,028,334
JBrowse link
G MIR96 microRNA 96 ISO
IEP
RNA:increased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 7:129,774,692...129,774,769
Ensembl chr 7:129,774,692...129,774,769
JBrowse link
G MT3 metallothionein 3 IEP protein: increased expression: visual cortex RGD PMID:20039155 RGD:6480516 NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO
IEP
protein:decreased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 9:4,490,466...4,587,469
Ensembl chr 9:4,490,468...4,587,469
JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO
IEP
protein:decreased expression:frontal cortex: RGD PMID:24304186, PMID:24304186 RGD:11553929, RGD:11553929 NCBI chr 3:14,402,576...14,489,349
Ensembl chr 3:14,402,576...14,489,349
JBrowse link
G SNCA synuclein alpha IEP protein:increased expression:oligodendrocyte RGD PMID:9749615 RGD:6480091 NCBI chr 4:89,724,099...89,838,324
Ensembl chr 4:89,700,345...89,838,315
Ensembl chr 4:89,700,345...89,838,315
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 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION OMIM
ClinVar
PMID:28940097 PMID:30124836 PMID:30850329 NCBI chr 1:204,828,652...205,022,822
Ensembl chr 1:204,828,651...205,022,822
JBrowse link
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin IAGP DNA:missense mutations:cds:725G>A,457A>G(human) RGD PMID:21465257 RGD:10054301 NCBI chr 9:32,883,872...33,025,120
Ensembl chr 9:32,886,601...33,025,130
JBrowse link
G LOC112533671 Sharpr-MPRA regulatory region 12010 IAGP ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:18414213 NCBI chr17:75,516,308...75,516,602 JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP 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 chr17:75,516,528...75,524,735
Ensembl chr17:75,516,060...75,524,735
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12082591 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G GNAS GNAS complex locus sussceptibility IAGP DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GNB3 G protein subunit beta 3 susceptibility IAGP DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chr12:6,840,922...6,847,393
Ensembl chr12:6,839,954...6,847,393
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP RGD PMID:10449650 RGD:1581056 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
JBrowse link
G OPRD1 opioid receptor delta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 1:28,812,170...28,871,267
Ensembl chr 1:28,812,142...28,871,267
JBrowse link
G OPRM1 opioid receptor mu 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867
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 IAGP ClinVar Annotator: match by term: ORTHOSTATIC HYPOTENSION 2 ClinVar
OMIM
NCBI chr17:63,432,304...63,446,639
Ensembl chr17:63,432,304...63,446,354
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 IAGP
EXP
ClinVar Annotator: match by term: Orthostatic intolerance
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SLC6A2-related disorder
ClinVar
CTD
OMIM
PMID:10684912 PMID:11458707 PMID:11875370 NCBI chr16:55,655,928...55,706,192
Ensembl chr16:55,655,604...55,706,192
JBrowse link
paroxysmal extreme pain disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Paroxysmal extreme pain disorder ClinVar PMID:15955112 PMID:17145499 PMID:18414213 PMID:18518989 PMID:18599537 PMID:19763161 PMID:21094958 PMID:21115638 PMID:21698661 PMID:21939494 PMID:22035805 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:24820863 PMID:24848745 PMID:25250524 PMID:25333069 PMID:25741868 PMID:25852444 PMID:26284228 PMID:26392352 PMID:26467025 PMID:26633545 PMID:27504264 PMID:27884173 PMID:27956748 PMID:28073787 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29176367 PMID:29264398 PMID:29358611 PMID:29500686 PMID:30311386 PMID:30642272 PMID:30834459 NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP
EXP
ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL
ClinVar Annotator: match by term: Paroxysmal extreme pain disorder
CTD Direct Evidence: marker/mechanism
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 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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 member 2 IEA OMIM:604715 MouseDO NCBI chr16:55,655,928...55,706,192
Ensembl chr16:55,655,604...55,706,192
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27749843 NCBI chr16:1,240,705...1,242,554
Ensembl chr16:1,240,705...1,242,554
JBrowse link
G USH2A usherin IAGP 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 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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 IAGP ClinVar Annotator: match by term: Familial dysautonomia ClinVar
OMIM
PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 PMID:12687659 PMID:16964593 PMID:17206408 PMID:18303054 PMID:20301359 PMID:22190446 PMID:22850346 PMID:23515154 PMID:24033266 PMID:24173031 PMID:24995671 PMID:25741868 PMID:26264438 PMID:26392352 PMID:27065010 PMID:27104957 PMID:27582484 PMID:28492532, PMID:11179008, PMID:11179021 RGD:5129156, RGD:5129155 NCBI chr 9:108,867,517...108,934,135
Ensembl chr 9:108,866,898...108,934,328
Ensembl chr 9:108,866,898...108,934,328
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:6850280 NCBI chr20:3,082,556...3,093,521
Ensembl chr20:3,082,556...3,084,724
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 2 OMIM
ClinVar
NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
striatonigral degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP62 nucleoporin 62 IEA OMIM:271930 | OMIM:500003 | OMIM:609161 MouseDO NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,763
JBrowse link
G PDE8B phosphodiesterase 8B IEA OMIM:271930 | OMIM:500003 | OMIM:609161 MouseDO NCBI chr 5:77,180,304...77,428,256
Ensembl chr 5:77,086,732...77,427,124
Ensembl chr 5:77,086,732...77,427,124
Ensembl chr 5:77,086,732...77,427,124
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 IAGP ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset ClinVar
OMIM
PMID:25741868 PMID:27292112 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
JBrowse link
G VAC14-AS1 VAC14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset ClinVar PMID:27292112 NCBI chr16:70,755,095...70,773,251
Ensembl chr16:70,755,035...70,773,251
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 IAGP ClinVar Annotator: match by term: Striatonigral degeneration infantile ClinVar PMID:16786527 NCBI chr19:49,889,654...49,929,504
Ensembl chr19:49,889,654...49,929,539
JBrowse link
G NUP62 nucleoporin 62 IAGP ClinVar Annotator: match by term: Striatonigral degeneration infantile ClinVar
OMIM
PMID:16786527 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,763
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 IAGP 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:8,527...9,207
Ensembl chr MT:8,527...9,207
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 IEP associated with Syncope;protein:increased expression:serum: RGD PMID:23373852 RGD:7247623 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732
JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked 1 ClinVar
OMIM
PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,676...153,582,939
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,656...78,050,395
JBrowse link
G NHSL2 NHS like 2 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:71,911,073...72,153,286
Ensembl chr  X:71,910,818...72,161,750
JBrowse link
G PGAM4 phosphoglycerate mutase family member 4 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:77,967,949...77,969,638
Ensembl chr  X:77,967,949...77,969,638
JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:72,578,814...72,714,306
Ensembl chr  X:72,578,814...72,714,319
JBrowse link
G RTL9 retrotransposon Gag like 9 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:110,358,101...110,456,334
Ensembl chr  X:110,358,816...110,456,334
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17350
      nervous system disease 13440
        autonomic nervous system disease 64
          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 + 47
          autonomic neuropathy + 1
          complex regional pain syndrome + 0
          congenital central hypoventilation syndrome 11
          idiopathic peripheral autonomic neuropathy 0
          paroxysmal extreme pain disorder 2
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17350
      nervous system disease 13440
        peripheral nervous system disease 2707
          autonomic nervous system disease 64
            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 + 47
            autonomic neuropathy + 1
            complex regional pain syndrome + 0
            congenital central hypoventilation syndrome 11
            idiopathic peripheral autonomic neuropathy 0
            paroxysmal extreme pain disorder 2
paths to the root