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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:Cerebral Small Vessel Diseases
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Accession:DOID:9007269 term browser browse the term
Definition:Pathological processes or diseases where cerebral MICROVESSELS show abnormalities. They are often associated with aging, hypertension and risk factors for lacunar infarcts (see LACUNAR INFARCTION); LEUKOARAIOSIS; and CEREBRAL HEMORRHAGE.
Synonyms:exact_synonym: Cerebral Microangiopathy;   brain small vessel disease;   cerebral microangiopathies;   cerebral small vessel disease
 primary_id: MESH:D059345
 alt_id: RDO:0009991
 xref: OMIM:PS175780
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Cerebral Small Vessel Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16598045, PMID:17696175 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Fga fibrinogen alpha chain ISO DNA:polymorphisms, haplotypes RGD PMID:17951283 RGD:5688761 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:polymorphisms, haplotypes RGD PMID:17951283 RGD:5688761 NCBI chr 2:181,987,080...181,994,523
Ensembl chr 2:181,987,217...181,994,514
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO DNA:SNPs, haplotypes:promoter, exon:rs939347, rs2071570, rs12941497 (human) RGD PMID:23083441 RGD:10448981 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Selp selectin P ISO protein:increased expression:platelet RGD PMID:20885295 RGD:6296592 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Thbd thrombomodulin severity ISO protein:increased expression:artery endothelium RGD PMID:22170884 RGD:5684978 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355, PMID:25525273, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
Brain Small Vessel Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
ClinVar PMID:18077766, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by OMIM:614483
ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
OMIM
ClinVar
PMID:22209246, PMID:22209247, PMID:22333902, PMID:22914737, PMID:24001601, PMID:24390199, PMID:24646874, PMID:25326635, PMID:25653287, PMID:25719457, PMID:25741868, PMID:26467025, PMID:26708157, PMID:28492532, PMID:30311386, PMID:30315939 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Acquired porencephaly ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
Brain Small Vessel Disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colgalt1 collagen beta(1-O)galactosyltransferase 1 ISO ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 3 OMIM
ClinVar
PMID:30412317 NCBI chr16:20,039,969...20,052,277
Ensembl chr16:20,039,969...20,052,276
JBrowse link
G Niban3 niban apoptosis regulator 3 ISO ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 3 ClinVar NCBI chr16:20,027,100...20,038,720
Ensembl chr16:20,027,348...20,038,716
JBrowse link
COL4A1-related familial vascular leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by OMIM:607595
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
ClinVar Annotator: match by term: Porencephaly 1
ClinVar
OMIM
PMID:6428250, PMID:7257746, PMID:15023374, PMID:15136694, PMID:15905400, PMID:16107487, PMID:16598045, PMID:17696175, PMID:17938367, PMID:18077766, PMID:19194877, PMID:19477666, PMID:20385946, PMID:20733150, PMID:21527998, PMID:21625620, PMID:22102590, PMID:22522439, PMID:22574627, PMID:23065703, PMID:23225343, PMID:23394911, PMID:24088041, PMID:24628545, PMID:25326635, PMID:25741868, PMID:25741869, PMID:26467025, PMID:26633545, PMID:28017902, PMID:28492532, PMID:30311386, PMID:32042920, PMID:32818659 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868, PMID:26467025 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25741868 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2363674, PMID:2567273, PMID:2900981, PMID:8108423, PMID:18566660, PMID:25741868 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Gla galactosidase, alpha ISO DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Fabry disease
ClinVar Annotator: match by term: Fabry's disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:301500
ClinVar
CTD
OMIM
PMID:1315304, PMID:1315715, PMID:1650161, PMID:1668641, PMID:1753437, PMID:1846223, PMID:2152885, PMID:2160973, PMID:2164807, PMID:2171331, PMID:2393552, PMID:2539398, PMID:2744760, PMID:2836863, PMID:6379599, PMID:7504405, PMID:7531540, PMID:7575533, PMID:7596372, PMID:7911050, PMID:7951217, PMID:8069316, PMID:8395937, PMID:8411052, PMID:8738659, PMID:8807334, PMID:8834244, PMID:8863162, PMID:8875188, PMID:8878432, PMID:8996967, PMID:9100224, PMID:9105656, PMID:9116979, PMID:9395081, PMID:9452068, PMID:9452111, PMID:9554750, PMID:9883849, PMID:10090526, PMID:10208848, PMID:10649504, PMID:10666480, PMID:10838196, PMID:10845698, PMID:10916280, PMID:11076046, PMID:11137837, PMID:11295840, PMID:11322659, PMID:11531969, PMID:11531972, PMID:11668641, PMID:11688386, PMID:11804208, PMID:11828341, PMID:11889412, PMID:11914245, PMID:12068026, PMID:12175777, PMID:12359124, PMID:12428061, PMID:12429061, PMID:12480979, PMID:12668521, PMID:12694230, PMID:12778775, PMID:12786754, PMID:12796853, PMID:12911529, PMID:12920095, PMID:12938095, PMID:14635108, PMID:14680977, PMID:15091117, PMID:15100373, PMID:15162124, PMID:15339079, PMID:15492942, PMID:15611419, PMID:15702404, PMID:15712228, PMID:15713906, PMID:15776423, PMID:15806320, PMID:16215932, PMID:16232095, PMID:16533976, PMID:16595074, PMID:16754800, PMID:16773563, PMID:17040996, PMID:17206462, PMID:17452128, PMID:17532296, PMID:17555407, PMID:17656478, PMID:17804462, PMID:18023222, PMID:18057066, PMID:18154965, PMID:18205205, PMID:18287059, PMID:18297328, PMID:18387337, PMID:18424138, PMID:18565198, PMID:18596132, PMID:18633574, PMID:18698230, PMID:18830871, PMID:18849176, PMID:18974770, PMID:19287194, PMID:19373884, PMID:19387866, PMID:19621417, PMID:19763152, PMID:19823873, PMID:19925601, PMID:19941952, PMID:20022777, PMID:20031620, PMID:20110537, PMID:20122163, PMID:20300124, PMID:20307669, PMID:20360539, PMID:20367968, PMID:20464614, PMID:20498269, PMID:20505683, PMID:20615758, PMID:20628902, PMID:20716442, PMID:20821055, PMID:21062768, PMID:21092187, PMID:21138548, PMID:21229318, PMID:21333496, PMID:21353612, PMID:21517827, PMID:21549080, PMID:21587323, PMID:21598360, PMID:21683120, PMID:21804088, PMID:21890869, PMID:21896204, PMID:21946453, PMID:21972175, PMID:22004918, PMID:22078290, PMID:22176145, PMID:22205110, PMID:22226368, PMID:22227322, PMID:22241068, PMID:22305854, PMID:22378313, PMID:22406018, PMID:22437327, PMID:22472932, PMID:22551898, PMID:22563919, PMID:22682330, PMID:22695894, PMID:22773828, PMID:22805550, PMID:22874111, PMID:22905681, PMID:23109060, PMID:23146289, PMID:23219219, PMID:23248976, PMID:23305247, PMID:23306324, PMID:23307880, PMID:23332617, PMID:23378663, PMID:23393592, PMID:23430502, PMID:23430526, PMID:23430946, PMID:23465405, PMID:23474038, PMID:23537685, PMID:23566439, PMID:23568732, PMID:23591357, PMID:23677059, PMID:23691425, PMID:23724928, PMID:23818648, PMID:23913314, PMID:23922385, PMID:23935525, PMID:23980562, PMID:24015197, PMID:24033266, PMID:24082139, PMID:24094560, PMID:24236025, PMID:24334114, PMID:24365053, PMID:24380807, PMID:24386359, PMID:24395922, PMID:24503780, PMID:24582695, PMID:24613481, PMID:24661928, PMID:24718812, PMID:24784157, PMID:24829596, PMID:25026990, PMID:25040344, PMID:25078086, PMID:25149322, PMID:25179549, PMID:25319043, PMID:25382311, PMID:25386848, PMID:25409744, PMID:25439755, PMID:25468650, PMID:25468652, PMID:25511234, PMID:25525159, PMID:25596309, PMID:25611685, PMID:25637381, PMID:25663229, PMID:25741868, PMID:25900714, PMID:25955246, PMID:25974833, PMID:25977923, PMID:26044846, PMID:26047621, PMID:26083343, PMID:26179544, PMID:26238931, PMID:26252393, PMID:26297554, PMID:26305465, PMID:26333625, PMID:26415523, PMID:26424312, PMID:26456105, PMID:26563328, PMID:26631895, PMID:26652600, PMID:26691501, PMID:26866599, PMID:26937405, PMID:26990548, PMID:27083555, PMID:27129690, PMID:27142856, PMID:27160240, PMID:27211852, PMID:27238910, PMID:27356758, PMID:27431810, PMID:27532257, PMID:27554049, PMID:27560961, PMID:27576502, PMID:27585509, PMID:27595546, PMID:27629047, PMID:27657681, PMID:27773586, PMID:27825144, PMID:27831900, PMID:27832731, PMID:27896102, PMID:27896103, PMID:27916943, PMID:27931613, PMID:27979989, PMID:27992580, PMID:28082092, PMID:28253518, PMID:28275245, PMID:28299312, PMID:28302345, PMID:28340804, PMID:28360401, PMID:28377241, PMID:28389313, PMID:28409012, PMID:28430823, PMID:28492532, PMID:28500230, PMID:28596458, PMID:28615118, PMID:28646478, PMID:28649509, PMID:28672034, PMID:28682471, PMID:28723748, PMID:28728877, PMID:28736719, PMID:28749998, PMID:28756410, PMID:28798024, PMID:28799081, PMID:28941980, PMID:28977874, PMID:28988177, PMID:29018006, PMID:29037082, PMID:29079200, PMID:29132836, PMID:29203563, PMID:29215092, PMID:29247119, PMID:29307789, PMID:29330335, PMID:29361493, PMID:29476735, PMID:29487688, PMID:29491734, PMID:29543226, PMID:29631605, PMID:29661900, PMID:29770213, PMID:29794742, PMID:29867742, PMID:29982630, PMID:30038331, PMID:30093709, PMID:30201457, PMID:30311386, PMID:30380558, PMID:30385651, PMID:30386727, PMID:30477121, PMID:30568064, PMID:30569317, PMID:30571380, PMID:30594474, PMID:30644091, PMID:30715505, PMID:30773290, PMID:30972193, PMID:31020198, PMID:31036492, PMID:31200018, PMID:31213654, PMID:31291414, PMID:31392112, PMID:31449323, PMID:31566927, PMID:31654629, PMID:31907047, PMID:32023956, PMID:32161151, PMID:32418857, PMID:32531501, PMID:32860008, PMID:2539398 RGD:1601350 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry Disease ClinVar NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Fabry disease, cardiac variant
ClinVar PMID:1315715, PMID:1846223, PMID:2171331, PMID:7596372, PMID:8738659, PMID:9395081, PMID:9883849, PMID:10208848, PMID:10838196, PMID:10916280, PMID:11322659, PMID:11688386, PMID:11828341, PMID:12428061, PMID:15702404, PMID:17532296, PMID:17555407, PMID:19621417, PMID:19823873, PMID:20031620, PMID:20505683, PMID:20821055, PMID:21598360, PMID:22241068, PMID:22437327, PMID:23109060, PMID:23378663, PMID:23935525, PMID:24033266, PMID:24386359, PMID:25382311, PMID:25611685, PMID:25741868, PMID:27356758, PMID:27554049, PMID:27560961, PMID:27595546, PMID:27931613, PMID:28082092, PMID:28377241, PMID:28430823, PMID:28492532, PMID:29215092 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by OMIM:176500 ClinVar
OMIM
PMID:10391242, PMID:21610757, PMID:11159188 RGD:1358403 NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
Lacunar Strokes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a2 collagen type IV alpha 2 chain susceptibility ISO DNA:SNPs:: RGD PMID:28954878 RGD:13450933 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
MELAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:25037980, PMID:27812026, PMID:29350304 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:127819, PMID:6213205, PMID:7987332, PMID:8019558, PMID:8572257, PMID:9450881, PMID:9742104, PMID:11069477, PMID:11175301, PMID:20301595, PMID:31965079 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO DNA:mutation:exon:m.9957T>C (F251L)(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18587274 RGD:5491184 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snps:cds:m.3697G>A, m.3946G>A, m.3949T>C (human)
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15466014, PMID:15972314, PMID:16849371, PMID:16969869, PMID:17535832, PMID:17562939, PMID:18504678, PMID:18590963, PMID:18977334, PMID:21364701, PMID:24830958, PMID:15466014 RGD:5490235 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1323207, PMID:3395302, PMID:8213827 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO DNA:mutations:exons:p. D393N, M237T (human)
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:m.13513G>A (D393N)(human)
DNA:mutation:exon:m.13849A>C (N505H)(human)
ClinVar
CTD
PMID:9299505, PMID:10589546, PMID:12509858, PMID:12624137, PMID:12796552, PMID:14520659, PMID:14730434, PMID:15576045, PMID:15767514, PMID:16306525, PMID:16816025, PMID:17400793, PMID:18332249, PMID:18977334, PMID:22249460, PMID:22577219, PMID:25741868, PMID:26894521, PMID:21850008, PMID:10589546, PMID:18587274 RGD:5491173, RGD:5507825, RGD:5491184 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:11781695 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:22499341 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
Microscopic Polyangiitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cl1 C-X3-C motif chemokine ligand 1 severity ISO protein:increased expression:serum RGD PMID:19327232 RGD:9491765 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:blood, T cell RGD PMID:19327232 RGD:9491765 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      cardiovascular system disease 4424
        vascular disease 3354
          cerebrovascular disease 827
            Cerebral Small Vessel Diseases 37
              Brain Small Vessel Disease 2 3
              Brain Small Vessel Disease 3 2
              COL4A1-related familial vascular leukoencephalopathy 2
              CST3-related cerebral amyloid angiopathy + 3
              Dysphoric Cerebral Angiopathy 0
              Fabry disease + 9
              Lacunar Strokes 1
              MELAS syndrome + 14
              Microscopic Polyangiitis 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            cerebrovascular disease 827
              Cerebral Small Vessel Diseases 37
                Brain Small Vessel Disease 2 3
                Brain Small Vessel Disease 3 2
                COL4A1-related familial vascular leukoencephalopathy 2
                CST3-related cerebral amyloid angiopathy + 3
                Dysphoric Cerebral Angiopathy 0
                Fabry disease + 9
                Lacunar Strokes 1
                MELAS syndrome + 14
                Microscopic Polyangiitis 2
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.