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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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16598045 PMID:17696175 NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826
JBrowse link
G Fga fibrinogen alpha chain ISO DNA:polymorphisms, haplotypes RGD PMID:17951283 RGD:5688761 NCBI chr 3:83,026,153...83,033,627
Ensembl chr 3:83,026,076...83,033,627
JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:polymorphisms, haplotypes RGD PMID:17951283 RGD:5688761 NCBI chr 3:83,007,724...83,015,056
Ensembl chr 3:83,007,724...83,015,049
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 chr11:98,767,932...98,775,377
Ensembl chr11:98,767,932...98,775,333
JBrowse link
G Selp selectin, platelet ISO protein:increased expression:platelet RGD PMID:20885295 RGD:6296592 NCBI chr 1:164,115,264...164,150,026
Ensembl chr 1:164,115,264...164,150,026
JBrowse link
G Thbd thrombomodulin severity ISO protein:increased expression:artery endothelium RGD PMID:22170884 RGD:5684978 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
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 5:3,689,999...3,803,124
Ensembl chr 5:3,690,000...3,802,925
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 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
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 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 chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826
JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
ClinVar Annotator: match by OMIM:614483
OMIM
ClinVar
PMID:22209246 PMID:22209247 PMID:22333902 PMID:22914737 PMID:24390199 PMID:24646874 PMID:25326635 PMID:25653287 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30315939 PMID:33527515 NCBI chr 8:11,312,805...11,449,287
Ensembl chr 8:11,312,805...11,449,287
JBrowse link
G Gm32234 predicted gene, 32234 ISO ClinVar Annotator: match by term: Porencephaly 2 ClinVar PMID:25741868 PMID:28492532 PMID:30315939 NCBI chr10:40,454,082...40,466,627 JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Acquired porencephaly ClinVar PMID:25741868 NCBI chr 4:147,909,753...147,936,776
Ensembl chr 4:147,909,753...147,936,767
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 chr 8:71,610,042...71,624,911
Ensembl chr 8:71,610,998...71,624,911
JBrowse link
G Niban3 niban apoptosis regulator 3 ISO ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 3 ClinVar NCBI chr 8:71,596,356...71,608,146
Ensembl chr 8:71,597,648...71,607,936
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 ISO
IEA
ClinVar Annotator: match by OMIM:607595
ClinVar Annotator: match by term: Autosomal Dominant Type 1 Porencephaly
ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
ClinVar Annotator: match by term: Porencephaly 1
ClinVar
OMIM
MouseDO
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:32042920 PMID:32488064 PMID:32732225 PMID:32818659 NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826
JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 PMID:26467025 NCBI chr 8:11,312,805...11,449,287
Ensembl chr 8:11,312,805...11,449,287
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 (A4) precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25741868 NCBI chr16:84,952,666...85,175,255
Ensembl chr16:84,949,685...85,173,766
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 2:148,871,722...148,875,512
Ensembl chr 2:148,871,722...148,875,692
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 (peptidyl-dipeptidase A) 1 treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Ar androgen receptor treatment IMP RGD PMID:25701874 RGD:11576234 NCBI chr  X:98,148,757...98,323,218
Ensembl chr  X:98,148,769...98,323,215
JBrowse link
G Gla galactosidase, alpha ISO
IEA
DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Fabry disease
ClinVar Annotator: match by term: Fabry's disease
OMIM:301500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:301500
ClinVar
MouseDO
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:8931708 PMID:8996967 PMID:9100224 PMID:9105656 PMID:9116979 PMID:9395081 PMID:9452068 PMID:9452111 PMID:9536098 PMID:9554750 PMID:9883849 PMID:10090526 PMID:10200059 PMID:10208848 PMID:10649504 PMID:10666480 PMID:10838196 PMID:10845698 PMID:10916280 PMID:11076046 PMID:11137837 PMID:11179018 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:12512750 PMID:12668521 PMID:12694230 PMID:12778775 PMID:12786754 PMID:12796853 PMID:12911529 PMID:12920095 PMID:12938095 PMID:14635108 PMID:14680977 PMID:15003450 PMID:15091117 PMID:15100373 PMID:15162124 PMID:15339079 PMID:15492942 PMID:15611419 PMID:15695328 PMID:15702403 PMID:15702404 PMID:15712228 PMID:15713906 PMID:15776423 PMID:15806320 PMID:15924232 PMID:16148726 PMID:16199547 PMID:16215932 PMID:16232095 PMID:16533976 PMID:16595074 PMID:16754800 PMID:16773563 PMID:17040996 PMID:17057070 PMID:17206462 PMID:17224688 PMID:17452128 PMID:17532296 PMID:17555407 PMID:17576681 PMID:17656478 PMID:17713670 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:18724168 PMID:18830871 PMID:18849176 PMID:18974770 PMID:19285316 PMID:19287194 PMID:19320660 PMID:19373884 PMID:19387866 PMID:19621417 PMID:19763152 PMID:19823873 PMID:19925601 PMID:19941952 PMID:20022777 PMID:20031620 PMID:20110537 PMID:20122163 PMID:20139917 PMID:20300124 PMID:20307669 PMID:20360539 PMID:20367968 PMID:20464614 PMID:20498269 PMID:20505683 PMID:20615758 PMID:20628902 PMID:20629180 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:21700093 PMID:21804088 PMID:21890869 PMID:21896204 PMID:21946453 PMID:21972175 PMID:22004918 PMID:22063097 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:23387234 PMID:23393592 PMID:23430502 PMID:23430526 PMID:23430946 PMID:23465405 PMID:23474038 PMID:23537685 PMID:23566439 PMID:23568732 PMID:23591357 PMID:23608164 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:24626231 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:25531941 PMID:25596309 PMID:25611685 PMID:25637381 PMID:25663229 PMID:25741868 PMID:25835592 PMID:25900714 PMID:25955246 PMID:25974833 PMID:25977923 PMID:26044846 PMID:26047621 PMID:26083343 PMID:26179544 PMID:26238931 PMID:26252393 PMID:26272908 PMID:26297554 PMID:26298600 PMID:26305465 PMID:26333625 PMID:26384850 PMID:26415523 PMID:26424312 PMID:26456105 PMID:26490103 PMID:26563328 PMID:26631895 PMID:26639818 PMID:26652600 PMID:26691501 PMID:26866599 PMID:26937405 PMID:26990548 PMID:27081853 PMID:27083555 PMID:27129690 PMID:27142856 PMID:27160240 PMID:27211852 PMID:27225851 PMID:27238910 PMID:27356758 PMID:27431810 PMID:27531472 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:28276057 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:28625968 PMID:28646478 PMID:28649509 PMID:28672034 PMID:28682471 PMID:28723748 PMID:28728877 PMID:28736719 PMID:28749998 PMID:28756410 PMID:28768754 PMID:28798024 PMID:28799081 PMID:28941980 PMID:28943383 PMID:28964554 PMID:28977874 PMID:28988177 PMID:29018006 PMID:29019163 PMID:29037082 PMID:29044343 PMID:29079200 PMID:29132836 PMID:29186537 PMID:29203563 PMID:29215092 PMID:29247119 PMID:29307789 PMID:29330335 PMID:29361493 PMID:29437868 PMID:29476735 PMID:29487688 PMID:29491734 PMID:29530533 PMID:29543226 PMID:29621274 PMID:29631605 PMID:29649853 PMID:29661900 PMID:29688992 PMID:29770213 PMID:29794742 PMID:29867742 PMID:29982630 PMID:30023289 PMID:30038331 PMID:30064518 PMID:30093709 PMID:30103270 PMID:30201457 PMID:30380558 PMID:30385651 PMID:30386727 PMID:30474596 PMID:30477121 PMID:30568064 PMID:30569317 PMID:30571380 PMID:30594474 PMID:30644091 PMID:30658922 PMID:30715505 PMID:30762167 PMID:30773290 PMID:30972193 PMID:30985853 PMID:30988410 PMID:31010832 PMID:31020198 PMID:31036492 PMID:31065389 PMID:31200018 PMID:31213654 PMID:31291414 PMID:31372342 PMID:31392112 PMID:31449323 PMID:31566927 PMID:31620600 PMID:31654629 PMID:31860127 PMID:31907047 PMID:31949022 PMID:31956509 PMID:31996269 PMID:32011328 PMID:32023956 PMID:32042454 PMID:32161151 PMID:32306159 PMID:32418857 PMID:32435590 PMID:32442237 PMID:32531501 PMID:32699723 PMID:32714835 PMID:32793709 PMID:32860008 PMID:33016649 PMID:33545641, PMID:2539398 RGD:1601350 NCBI chr  X:134,588,169...134,601,005
Ensembl chr  X:134,588,149...134,601,125
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Mylk2 myosin, light polypeptide kinase 2, skeletal muscle ISO ClinVar Annotator: match by term: Fabry Disease ClinVar NCBI chr 2:152,911,281...152,923,065
Ensembl chr 2:152,911,352...152,923,068
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
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:134,588,169...134,601,005
Ensembl chr  X:134,588,149...134,601,125
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 OMIM
ClinVar
PMID:10391242 PMID:21610757, PMID:11159188 RGD:1358403 NCBI chr14:73,362,226...73,385,289
Ensembl chr14:73,362,226...73,385,289
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 susceptibility ISO DNA:SNPs:: RGD PMID:28954878 RGD:13450933 NCBI chr 8:11,312,805...11,449,287
Ensembl chr 8:11,312,805...11,449,287
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 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial 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:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G mt-Co2 cytochrome c oxidase II, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696
JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO DNA:mutation:exon:m.9957T>C (F251L)(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:18587274 RGD:5491184 NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390
JBrowse link
G mt-Cytb cytochrome b, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial 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:20301353 PMID:21364701 PMID:24830958 PMID:30143805, PMID:15466014 RGD:5490235 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1323207 PMID:3395302 PMID:8213827 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544
JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial 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:11,742...13,565
Ensembl chr MT:11,742...13,565
JBrowse link
G mt-Nd6 NADH dehydrogenase 6, mitochondrial 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:13,552...14,070
Ensembl chr MT:13,552...14,070
JBrowse link
G mt-Ta tRNA alanine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:11404121 PMID:16476954 PMID:19718780 PMID:31965079 NCBI chr MT:5,018...5,086
Ensembl chr MT:5,018...5,086
JBrowse link
G mt-Tc tRNA cysteine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:8829635 PMID:9185178 PMID:9384601 PMID:12802679 PMID:16955414 PMID:18386806 PMID:19818876 PMID:31965079 NCBI chr MT:5,192...5,257
Ensembl chr MT:5,192...5,257
JBrowse link
G mt-Td tRNA aspartic acid, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:10488907 PMID:18676632 PMID:31965079 NCBI chr MT:6,942...7,011
Ensembl chr MT:6,942...7,011
JBrowse link
G mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
ClinVar PMID:4114165 PMID:7726154 PMID:7726155 PMID:9353617 PMID:10392369 PMID:11349229 PMID:11437868 PMID:12393175 PMID:15048886 PMID:17056256 PMID:19720722 PMID:21194154 PMID:21931168 PMID:23847141 PMID:25741868 PMID:28027978 PMID:31965079 PMID:32313153 NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139
JBrowse link
G mt-Tf tRNA phenylalanine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:1171391 PMID:2102678 PMID:6093682 PMID:9636664 PMID:9771776 PMID:12943225 PMID:14597761 PMID:16806928 PMID:18842121 PMID:19718780 PMID:20142618 PMID:21060018 PMID:21882289 PMID:31965079 NCBI chr MT:1...68
Ensembl chr MT:1...68
JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1709275 PMID:8079988 PMID:8888049 PMID:11335700 PMID:12621050 PMID:15070938 PMID:31965079 NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458
JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:7635294 PMID:11038324 PMID:12560876 PMID:14967777 PMID:15111688 PMID:21931169 PMID:25741868 PMID:31965079 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612
JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1978914 PMID:8889580 PMID:9461455 PMID:9466989 PMID:9473477 PMID:11406419 PMID:11782991 PMID:12621050 PMID:12655007 PMID:15121771 PMID:15233983 PMID:15477393 PMID:16120360 PMID:18177739 PMID:21144833 PMID:21533077 PMID:21982779 PMID:22241583 PMID:25741868 PMID:26467025 PMID:31965079 NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774
JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:1324294 PMID:1334369 PMID:1361099 PMID:1463005 PMID:1487239 PMID:1661776 PMID:1678125 PMID:1899320 PMID:1900002 PMID:1910259 PMID:1910341 PMID:2112427 PMID:2124116 PMID:7647790 PMID:8069654 PMID:8069655 PMID:8170567 PMID:8198140 PMID:8264702 PMID:8447321 PMID:8513395 PMID:8602753 PMID:8651277 PMID:9529371 PMID:9571188 PMID:9674814 PMID:10699170 PMID:11108511 PMID:11335700 PMID:12784281 PMID:15100439 PMID:15164143 PMID:16551460 PMID:17200493 PMID:17275787 PMID:17293137 PMID:18657354 PMID:19269823 PMID:20301693 PMID:20581069 PMID:20610441 PMID:22326363 PMID:25741868 PMID:26467025 PMID:27155576 PMID:31965079 NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 PMID:1514779 PMID:1677065 PMID:1684568 PMID:1715668 PMID:1932147 PMID:2102678 PMID:2268345 PMID:7473662 PMID:7520241 PMID:7554321 PMID:7635294 PMID:7649539 PMID:7714102 PMID:7804130 PMID:7906985 PMID:7931425 PMID:8094200 PMID:8111377 PMID:8132749 PMID:8151636 PMID:8210299 PMID:8254046 PMID:8265770 PMID:8280119 PMID:8366098 PMID:8442706 PMID:8541865 PMID:8603770 PMID:8723071 PMID:8723072 PMID:8786060 PMID:8818955 PMID:8825603 PMID:9003864 PMID:9109727 PMID:9168904 PMID:9222976 PMID:9243242 PMID:9382149 PMID:9465864 PMID:9506761 PMID:9619647 PMID:9683591 PMID:9798744 PMID:9841711 PMID:9874606 PMID:10356136 PMID:10366077 PMID:10407850 PMID:10431114 PMID:10482110 PMID:10514449 PMID:10519336 PMID:10612844 PMID:10699170 PMID:10704697 PMID:10858457 PMID:11085913 PMID:11096278 PMID:11175302 PMID:11241464 PMID:11320187 PMID:11379873 PMID:11587074 PMID:11708999 PMID:11723298 PMID:11840193 PMID:12160969 PMID:12612863 PMID:12868503 PMID:12905015 PMID:14576046 PMID:15032978 PMID:15372523 PMID:15477393 PMID:15629304 PMID:15870203 PMID:16006433 PMID:16326995 PMID:16336784 PMID:16384802 PMID:16950816 PMID:17018649 PMID:17172609 PMID:17564976 PMID:17656376 PMID:17823937 PMID:18203188 PMID:18252214 PMID:18306232 PMID:18674747 PMID:18676632 PMID:18753147 PMID:19027590 PMID:19139304 PMID:19349610 PMID:19460299 PMID:20471262 PMID:20550934 PMID:20610441 PMID:20697048 PMID:22781753 PMID:23243073 PMID:23900320 PMID:25741868 PMID:26822237 PMID:27296531 PMID:28027978 PMID:29155328 PMID:31965079 PMID:32313153 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Tl2 tRNA leucine 2, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:7804130 PMID:8923013 PMID:9361028 PMID:10602359 PMID:11313776 PMID:12398839 PMID:15591266 PMID:15649400 PMID:18977334 PMID:19718780 PMID:21882289 PMID:31965079 NCBI chr MT:11,671...11,741
Ensembl chr MT:11,671...11,741
JBrowse link
G mt-Tm tRNA methionine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:31965079 NCBI chr MT:3,845...3,913
Ensembl chr MT:3,845...3,913
JBrowse link
G mt-Tn tRNA asparagine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
ClinVar PMID:15752774 PMID:16908752 PMID:31965079 NCBI chr MT:5,089...5,159
Ensembl chr MT:5,089...5,159
JBrowse link
G mt-Tp tRNA proline, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:10369889 PMID:11196116 PMID:12400067 PMID:12406974 PMID:15120634 PMID:19273760 PMID:19718780 PMID:22954281 PMID:31965079 NCBI chr MT:15,356...15,422
Ensembl chr MT:15,356...15,422
JBrowse link
G mt-Tq tRNA glutamine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:11171912 PMID:11424923 PMID:12406974 PMID:15233983 PMID:16947981 PMID:17003408 PMID:20700462 PMID:21526175 PMID:23463613 PMID:25741868 PMID:26467025 PMID:29340697 PMID:31965079 PMID:32470904 NCBI chr MT:3,772...3,842
Ensembl chr MT:3,772...3,842
JBrowse link
G mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:17588757 PMID:31965079 NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
CTD
ClinVar
PMID:127819 PMID:6213205 PMID:7581383 PMID:7669057 PMID:7987332 PMID:8019558 PMID:8155739 PMID:8572257 PMID:8728705 PMID:9384601 PMID:9450881 PMID:9708714 PMID:9742104 PMID:9778262 PMID:9778273 PMID:9832034 PMID:10094190 PMID:10340654 PMID:10371545 PMID:10545608 PMID:11069477 PMID:11175301 PMID:11378827 PMID:11919191 PMID:12461693 PMID:14605505 PMID:15286157 PMID:15292920 PMID:15482956 PMID:15833431 PMID:16199753 PMID:16368237 PMID:17637808 PMID:17894844 PMID:18398437 PMID:18790089 PMID:18977334 PMID:19371214 PMID:19718780 PMID:20064630 PMID:20301595 PMID:20812880 PMID:21041797 PMID:21621438 PMID:22130972 PMID:23463613 PMID:24033266 PMID:26467025 PMID:28027978 PMID:31965079 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:7689389 PMID:16947981 PMID:17637808 PMID:19370763 PMID:23144833 PMID:23563965 PMID:24146900 PMID:25741868 PMID:26467025 PMID:27230773 PMID:28842646 PMID:31965079 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671
JBrowse link
G mt-Tt tRNA threonine, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
ClinVar PMID:8769114 PMID:10369889 PMID:18178636 PMID:31965079 NCBI chr MT:15,289...15,355
Ensembl chr MT:15,289...15,355
JBrowse link
G mt-Tv tRNA valine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:9450773 PMID:11799391 PMID:12056939 PMID:15320572 PMID:15465092 PMID:17886296 PMID:18400783 PMID:20064630 PMID:24691472 PMID:25652200 PMID:31965079 NCBI chr MT:1,025...1,093
Ensembl chr MT:1,025...1,093
JBrowse link
G mt-Tw tRNA tryptophan, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD
ClinVar
PMID:9266739 PMID:9673981 PMID:10762520 PMID:15670724 PMID:18977334 PMID:19349200 PMID:21712854 PMID:22638997 PMID:25741868 PMID:31965079 NCBI chr MT:4,950...5,016
Ensembl chr MT:4,950...5,016
JBrowse link
G mt-Ty tRNA tyrosine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:14598342 PMID:25741868 PMID:31965079 NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326
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 1:63,143,592...63,176,822
Ensembl chr 1:63,143,596...63,176,833
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
MERRF/MELAS Overlap Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:14967777 PMID:15111688 PMID:31965079 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612
JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:1361099 PMID:8069654 PMID:20301693 PMID:20610441 PMID:31965079 NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 PMID:1684568 PMID:1715668 PMID:2102678 PMID:2268345 PMID:7473662 PMID:7554321 PMID:7649539 PMID:7714102 PMID:7931425 PMID:8094200 PMID:8151636 PMID:8442706 PMID:8541865 PMID:8603770 PMID:8723071 PMID:8723072 PMID:8818955 PMID:8825603 PMID:9109727 PMID:9222976 PMID:9243242 PMID:9382149 PMID:9465864 PMID:9619647 PMID:9683591 PMID:9798744 PMID:9874606 PMID:10356136 PMID:10366077 PMID:10407850 PMID:10482110 PMID:10514449 PMID:10699170 PMID:10858457 PMID:11085913 PMID:11096278 PMID:11175302 PMID:11241464 PMID:11320187 PMID:11379873 PMID:11587074 PMID:11708999 PMID:11840193 PMID:12612863 PMID:12905015 PMID:15032978 PMID:15372523 PMID:15629304 PMID:16326995 PMID:16336784 PMID:16950816 PMID:17018649 PMID:17172609 PMID:17564976 PMID:17656376 PMID:17823937 PMID:18252214 PMID:18306232 PMID:18674747 PMID:18753147 PMID:19139304 PMID:19349610 PMID:20550934 PMID:20610441 PMID:20697048 PMID:23243073 PMID:23900320 PMID:25741868 PMID:26822237 PMID:27296531 PMID:31965079 PMID:32313153 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:7669057 PMID:9832034 PMID:31965079 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:16950817 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671
JBrowse link
Microscopic Polyangiitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cl1 chemokine (C-X3-C motif) ligand 1 severity ISO protein:increased expression:serum RGD PMID:19327232 RGD:9491765 NCBI chr 8:94,772,180...94,782,427
Ensembl chr 8:94,772,009...94,782,427
JBrowse link
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 ISO protein:increased expression:blood, T cell RGD PMID:19327232 RGD:9491765 NCBI chr 9:120,048,683...120,068,296
Ensembl chr 9:119,901,616...120,069,879
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14437
    disease of anatomical entity 14032
      cardiovascular system disease 3666
        vascular disease 2672
          cerebrovascular disease 823
            Cerebral Small Vessel Diseases 60
              Brain Small Vessel Disease 2 4
              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 + 36
              Microscopic Polyangiitis 2
Path 2
Term Annotations click to browse term
  disease 14437
    disease of anatomical entity 14032
      nervous system disease 11590
        central nervous system disease 10103
          brain disease 9488
            cerebrovascular disease 823
              Cerebral Small Vessel Diseases 60
                Brain Small Vessel Disease 2 4
                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 + 36
                Microscopic Polyangiitis 2
paths to the root