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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:intracranial arterial disease
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Accession:DOID:13089 term browser browse the term
Definition:Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.
Synonyms:exact_synonym: Arterial Brain Disease;   Arterial Brain Diseases;   Arterial Brain Disorder;   Arterial Brain Disorders;   Intracranial Arterial Disorder;   Intracranial Arterial Disorders;   intracranial arterial diseases
 primary_id: MESH:D020765;   RDO:0005158
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Amyloid Angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:31939705 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
APP-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 IAGP
EXP
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
ClinVar
CTD
OMIM
PMID:1303239 PMID:1679289 PMID:2111584 PMID:9754958 PMID:9848098 PMID:10821838 PMID:11311152 PMID:11409420 PMID:11441013 PMID:11528419 PMID:12654973 PMID:15502844 PMID:16178030 PMID:18413473 PMID:19225789 PMID:20228223 PMID:20697050 PMID:24878480 PMID:25741868 PMID:26104569 PMID:26402770 PMID:27000221 PMID:27858710 PMID:28350801 PMID:28492532 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISS OMIM:108010 MouseDO NCBI chr12:51,906,913...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr16:1,153,106...1,221,769
Ensembl chr16:1,153,106...1,221,771
JBrowse link
G CCNH cyclin H IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:30311386 NCBI chr 5:87,311,471...87,412,971
Ensembl chr 5:87,318,416...87,412,930
JBrowse link
G CDH2 cadherin 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:27,932,878...28,177,130
Ensembl chr18:27,932,879...28,177,946
Ensembl chr18:27,932,879...28,177,946
JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ENG endoglin disease_progression IAGP
ISS
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
DNA:polymorphism: : 207G>A(human)
ClinVar
MouseDO
PMID:25741868, PMID:16179574, PMID:24520391, PMID:24876084 RGD:1580962, RGD:11041564, RGD:11041171 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G IL17RD interleukin 17 receptor D IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
G IL6 interleukin 6 IAGP OMIM NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Arteriovenous malformations of the brain OMIM
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23406027 PMID:24033266 PMID:25044103 PMID:25157968 PMID:25695684 PMID:26372703 PMID:28492532 PMID:29298116 PMID:31891627 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LEMD3 LEM domain containing 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:101,697,707...101,894,690
Ensembl chr 2:101,696,850...101,894,689
JBrowse link
G NOTCH4 notch receptor 4 ISO
ISS
OMIM:108010 MouseDO PMID:19546852 RGD:6480671 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G PITPNM3 PITPNM family member 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 8:67,951,918...68,237,032
Ensembl chr 8:67,952,046...68,237,032
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:30311386 NCBI chr 5:87,267,845...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G SARS1 seryl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
JBrowse link
G SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:9,019,476...9,091,599
Ensembl chr11:9,019,498...9,138,114
Ensembl chr11:9,019,498...9,138,114
JBrowse link
G SYN3 synapsin III IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G VEGFA vascular endothelial growth factor A IEP RGD PMID:16388189 RGD:1580567 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:80,407,615...80,483,379
Ensembl chr 5:80,408,013...80,483,379
JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G NOTCH3 notch receptor 3 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:15229130 PMID:25741868 PMID:26467025 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR6795 microRNA 6795 IAGP ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 ClinVar NCBI chr19:15,179,283...15,179,350
Ensembl chr19:15,179,283...15,179,350
JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1
ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM
ClinVar
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10712431 PMID:10716263 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11559313 PMID:11706120 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:11784372 PMID:12136071 PMID:12146805 PMID:12196662 PMID:12482954 PMID:12721871 PMID:12754354 PMID:12810003 PMID:12821756 PMID:12821764 PMID:14714274 PMID:15229130 PMID:15287509 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15694192 PMID:15776792 PMID:15834039 PMID:15857853 PMID:15981641 PMID:15995828 PMID:16009764 PMID:16580020 PMID:16717210 PMID:16730748 PMID:16864835 PMID:17122431 PMID:17323840 PMID:17390743 PMID:17879447 PMID:18765654 PMID:18948701 PMID:19006080 PMID:19043263 PMID:19174371 PMID:19180562 PMID:19242647 PMID:19245392 PMID:19252787 PMID:19259619 PMID:19293235 PMID:19359623 PMID:19417009 PMID:19528524 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20167921 PMID:20301673 PMID:20851625 PMID:20857162 PMID:20935329 PMID:20981092 PMID:21387384 PMID:21555590 PMID:21616505 PMID:21737310 PMID:21852154 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22082899 PMID:22153900 PMID:22159056 PMID:22218279 PMID:22367839 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:22878905 PMID:22936449 PMID:23025651 PMID:23412372 PMID:23584202 PMID:23602593 PMID:23639391 PMID:23649698 PMID:23844775 PMID:23847153 PMID:24033266 PMID:24086431 PMID:24139282 PMID:24344756 PMID:24425116 PMID:24886907 PMID:24929957 PMID:24936512 PMID:25260786 PMID:25326637 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25834748 PMID:25870235 PMID:25929831 PMID:25973016 PMID:25980907 PMID:26002683 PMID:26261665 PMID:26270344 PMID:26308724 PMID:26368811 PMID:26467025 PMID:26646783 PMID:26715087 PMID:26806700 PMID:26850715 PMID:26856460 PMID:26889213 PMID:26894465 PMID:27174004 PMID:27293347 PMID:27350778 PMID:27423596 PMID:27770446 PMID:27844030 PMID:27881154 PMID:27884173 PMID:27890607 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28601945 PMID:28710804 PMID:28991717 PMID:29188607 PMID:29449082 PMID:29980472 PMID:30311053 PMID:30311386 PMID:30402942 PMID:30956055 PMID:31028544 PMID:32581362 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
CADASIL 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 IAGP ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar
OMIM
PMID:19387015 PMID:25741868 PMID:26063658 PMID:30981321 PMID:32101834 PMID:32581362 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOC3 amine oxidase copper containing 3 IEP associated with Alzheimer Disease;protein:increased expression:brain RGD PMID:17393059 RGD:2313919 NCBI chr17:42,851,182...42,858,130
Ensembl chr17:42,851,184...42,858,130
JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOE apolipoprotein E EXP CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G APP amyloid beta precursor protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21520056 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
G AQP4 aquaporin 4 IEP RGD PMID:21107133 RGD:5148012 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IEP RGD PMID:14595653 RGD:5688166 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G ITM2B integral membrane protein 2B ISS MouseDO NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
JBrowse link
G MME membrane metalloendopeptidase severity IEP
IDA
associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) RGD PMID:17021406, PMID:21382117 RGD:1600811, RGD:13801026 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
Ensembl chr 3:155,024,124...155,183,704
JBrowse link
G OLR1 oxidized low density lipoprotein receptor 1 IAGP RGD PMID:16328515 RGD:1580993 NCBI chr12:10,158,301...10,172,132
Ensembl chr12:10,158,301...10,172,138
JBrowse link
G PSEN1 presenilin 1 IEA GAD PMID:15118671 RGD:1331525 NCBI chr14:73,136,436...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMS2 age-related maculopathy susceptibility 2 IAGP ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ClinVar PMID:18316707 PMID:26467025 NCBI chr10:122,454,653...122,457,352
Ensembl chr10:122,454,653...122,457,352
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by term: CARASIL
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar
OMIM
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:32101834 PMID:32581362 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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 IAGP ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25741868 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
G CST3 cystatin C IAGP
EXP
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 chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
intracranial aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IEA GAD PMID:15118671 RGD:1331525 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO associated with Diabetes Mellitus, Experimental RGD PMID:23844137 RGD:8547935 NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AOC3 amine oxidase copper containing 3 ISO protein:decreased expression:cerebral artery RGD PMID:18312104 RGD:2313912 NCBI chr17:42,851,182...42,858,130
Ensembl chr17:42,851,184...42,858,130
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment IDA RGD PMID:25316629 RGD:11522723 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:circle of Willis (rat) RGD PMID:19164781, PMID:25316629 RGD:2307000, RGD:11522723 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP RGD PMID:14739420 RGD:1581199 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL22A1 collagen type XXII alpha 1 chain susceptibility IAGP DNA:SNPs:cds:multiple(human) RGD PMID:30541770 RGD:13831344 NCBI chr 8:138,588,235...138,914,087
Ensembl chr 8:138,588,235...138,914,041
JBrowse link
G CST3 cystatin C IEP protein:decreased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G CTSB cathepsin B IEP
ISO
protein:increased expression:cerebral aneurysm (human)
mRNA, protein:increased expression, increased activity:Circle of Willis (rat)
RGD PMID:18635848, PMID:18635848 RGD:2306495, RGD:2306495 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,448
Ensembl chr 8:11,842,524...11,869,448
JBrowse link
G CTSK cathepsin K IEP protein:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,796,208...150,808,260
Ensembl chr 1:150,796,208...150,808,260
JBrowse link
G CTSS cathepsin S IEP protein:increased expression:brain, artery RGD PMID:18635848 RGD:2306495 NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,188...150,765,792
JBrowse link
G ELN elastin TAS RGD PMID:15218274 RGD:1580328 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ENG endoglin IAGP RGD PMID:10223461 RGD:1580964 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Brain Aneurysm ClinVar PMID:16835936 PMID:19006240 PMID:25525159 PMID:25741868 PMID:26038974 PMID:28492532 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G IL6 interleukin 6 IAGP RGD PMID:16648144 RGD:1580488 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G MMP12 matrix metallopeptidase 12 no_association IAGP RGD PMID:11546917 RGD:1582365 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982
JBrowse link
G MMP14 matrix metallopeptidase 14 IEP RGD PMID:9724118 RGD:1582590 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,027
JBrowse link
G MMP2 matrix metallopeptidase 2 susceptibility ISO
IAGP
IEP
mRNA:increased expression:blood vessel RGD PMID:17569872, PMID:16961137, PMID:9724118 RGD:2290352, RGD:1582646, RGD:1582590 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment
susceptibility
ISO
IEP
IAGP
mRNA:increased expression:blood vessel
associated with Diabetes Mellitus, Experimental
mRNA, protein:increased expression:artery
RGD PMID:17569872, PMID:21937941, PMID:9310982, PMID:23844137, PMID:16961137, PMID:17122420 RGD:2290352, RGD:13204858, RGD:13204853, RGD:8547935, RGD:1582646, RGD:1642055 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NCF1 neutrophil cytosolic factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19381132 NCBI chr 7:74,773,962...74,789,376
Ensembl chr 7:74,773,962...74,789,376
JBrowse link
G NOS1 nitric oxide synthase 1 ISO RGD PMID:21321533 RGD:5131897 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170
JBrowse link
G NOS3 nitric oxide synthase 3 ISO RGD PMID:21321533, PMID:21321533 RGD:5131897, RGD:5131897 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting susceptibility IAGP DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Brain aneurysm
ClinVar PMID:25741868, PMID:12842373 RGD:1580867 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel susceptibility IAGP DNA:mutations:multiple (human) RGD PMID:12842373 RGD:1580867 NCBI chr 4:88,007,635...88,077,779
Ensembl chr 4:88,007,635...88,077,777
JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:21786025 RGD:6483795 NCBI chr10:73,909,182...73,917,497
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G SMAD3 SMAD family member 3 IAGP ClinVar Annotator: match by term: Intracranial aneurysm ClinVar PMID:25326637 PMID:25741868 PMID:30311386 NCBI chr15:67,065,602...67,195,195
Ensembl chr15:67,063,763...67,195,169
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:17569872 RGD:2290352 NCBI chr  X:47,582,408...47,586,789
Ensembl chr  X:47,582,408...47,586,789
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO mRNA:increased expression:blood vessel RGD PMID:17569872 RGD:2290352 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24628611 RGD:10450592 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VCAN versican IAGP DNA:SNP: :rs173686 (human) RGD PMID:16917090 RGD:1598495 NCBI chr 5:83,471,744...83,582,302
Ensembl chr 5:83,471,618...83,582,303
JBrowse link
Intracranial Berry Aneurysm 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THSD1 thrombospondin type 1 domain containing 1 IAGP ClinVar Annotator: match by term: ANEURYSM, INTRACRANIAL BERRY, 12 ClinVar
OMIM
NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
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 IEP
IAGP
ClinVar Annotator: match by term: Dementia familial British OMIM
ClinVar
PMID:10391242 PMID:21610757, PMID:11159188 RGD:1358403 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B IAGP ClinVar Annotator: match by term: Dementia, familial Danish
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar
OMIM
PMID:5457846 PMID:10781099 PMID:25741868 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
JBrowse link
middle cerebral artery infarction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 treatment ISO RGD PMID:23149556, PMID:24602692 RGD:12790979, RGD:12791996 NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,879
JBrowse link
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:24471927 RGD:11039026 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACE2 angiotensin I converting enzyme 2 ISO mRNA, protein:increased expression:brain RGD PMID:24090950 RGD:9685436 NCBI chr  X:15,518,197...15,602,158
Ensembl chr  X:15,561,033...15,602,148
Ensembl chr  X:15,561,033...15,602,148
JBrowse link
G ADORA1 adenosine A1 receptor EXP CTD Direct Evidence: therapeutic CTD PMID:23437309 NCBI chr 1:203,127,705...203,167,405
Ensembl chr 1:203,090,654...203,167,405
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO
EXP
associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism
CTD PMID:25446913, PMID:24211797 RGD:8696008 NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:brain, serum RGD PMID:24090950 RGD:9685436 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO protein:altered localization: : RGD PMID:15181376 RGD:10047403 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G AK1 adenylate kinase 1 ISO protein:decreased expression:cerebral cortex (rat) RGD PMID:16468349 RGD:5508760 NCBI chr 9:127,866,480...127,885,542
Ensembl chr 9:127,866,486...127,877,675
JBrowse link
G ALB albumin treatment IDA RGD PMID:22227456 RGD:11036100 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19309543 NCBI chr10:45,374,209...45,446,121
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G AP2B1 adaptor related protein complex 2 subunit beta 1 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr17:35,587,265...35,726,413
Ensembl chr17:35,578,046...35,726,413
JBrowse link
G APAF1 apoptotic peptidase activating factor 1 treatment ISO RGD PMID:24012531 RGD:13703113 NCBI chr12:98,645,141...98,735,433
Ensembl chr12:98,645,141...98,735,433
Ensembl chr12:98,645,141...98,735,433
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:19623195 RGD:6903926 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G APP amyloid beta precursor protein treatment ISO RGD PMID:28963051 RGD:13782054 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
G AQP4 aquaporin 4 treatment ISO RGD PMID:20815926 RGD:8695955 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G ARC activity regulated cytoskeleton associated protein ISO RGD PMID:22645329 RGD:10395314 NCBI chr 8:142,611,049...142,614,479
Ensembl chr 8:142,611,049...142,614,479
JBrowse link
G ATF3 activating transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 1:212,565,407...212,620,777
Ensembl chr 1:212,565,334...212,620,777
JBrowse link
G BAD BCL2 associated agonist of cell death treatment ISO RGD PMID:22200499, PMID:21891976 RGD:10053665, RGD:10053704 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:23143152 RGD:10054501 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCAN brevican ISO RGD PMID:15869933 RGD:9590118 NCBI chr 1:156,642,117...156,659,528
Ensembl chr 1:156,641,390...156,659,532
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:23143152 RGD:10054501 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:20417695 RGD:4891138 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G BECN1 beclin 1 treatment ISO RGD PMID:22108007 RGD:11561900 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO protein:increased expression:brain RGD PMID:17379825 RGD:9685412 NCBI chr10:131,967,683...131,982,013
Ensembl chr10:131,966,455...131,982,013
JBrowse link
G BNIP3L BCL2 interacting protein 3 like ISO RGD PMID:15902200, PMID:21029239 RGD:2314138, RGD:9068917 NCBI chr 8:26,383,054...26,413,127
Ensembl chr 8:26,383,054...26,505,636
JBrowse link
G C3 complement C3 ISO
EXP
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:23199288, PMID:22103620 RGD:7175514 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO RGD PMID:14688616 RGD:1358416 NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,291
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:21891976, PMID:26868427, PMID:23143152 RGD:10053704, RGD:13782346, RGD:10054501 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,649,509
JBrowse link
G CASP6 caspase 6 ISO RGD PMID:26868427 RGD:13782346 NCBI chr 4:109,688,628...109,703,445
Ensembl chr 4:109,688,622...109,703,583
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:26868427 RGD:13782346 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:12374626 PMID:23043544 PMID:25257527 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCL7 C-C motif chemokine ligand 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
JBrowse link
G CD36 CD36 molecule treatment ISO RGD PMID:25216018 RGD:11041113 NCBI chr 7:80,602,207...80,679,277
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:brain subventricular zone, microglial cell (rat) RGD PMID:19053043 RGD:2313025 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G CDK5 cyclin dependent kinase 5 ISO RGD PMID:24920629 RGD:13782375 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
JBrowse link
G CLDN5 claudin 5 treatment ISO RGD PMID:24842554 RGD:13204729 NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545
JBrowse link
G CRH corticotropin releasing hormone ISO protein:decreased expression:median eminence of hypothalamus (rat) RGD PMID:21741032 RGD:5490538 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
JBrowse link
G CRP C-reactive protein IDA RGD PMID:15545914 RGD:9585995 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CRTC1 CREB regulated transcription coactivator 1 treatment ISO RGD PMID:20417695 RGD:4891138 NCBI chr19:18,683,621...18,782,333
Ensembl chr19:18,683,678...18,782,333
JBrowse link
G CSF3 colony stimulating factor 3 treatment IDA
ISO
mRNA, protein:increased expression:brain: RGD PMID:19298757, PMID:15530654 RGD:11039420, RGD:11039425 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IDA RGD PMID:10825390 RGD:632989 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 2:218,125,294...218,137,253
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO mRNA:increased expression:cerebral cortex RGD PMID:10825390 RGD:632989 NCBI chr  X:71,615,913...71,618,515
Ensembl chr  X:71,615,916...71,618,511
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:23002367 RGD:14700877 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO RGD PMID:11726790 RGD:9588643 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,345...10,231,286
Ensembl chr19:10,133,345...10,231,286
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO RGD PMID:23516428 RGD:9589049 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G DYNLL1 dynein light chain LC8-type 1 ISO RGD PMID:9522364 RGD:13208524 NCBI chr12:120,469,842...120,498,493
Ensembl chr12:120,469,850...120,498,493
JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17197033 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:22645329 RGD:10395314 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G EGR2 early growth response 2 ISO RGD PMID:22645329 RGD:10395314 NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,919,900
JBrowse link
G EGR4 early growth response 4 ISO RGD PMID:22645329 RGD:10395314 NCBI chr 2:73,290,929...73,293,548
Ensembl chr 2:73,290,929...73,293,701
JBrowse link
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha treatment ISO RGD PMID:23669639, PMID:19763736 RGD:10395346, RGD:10755569 NCBI chr14:67,360,328...67,386,516
Ensembl chr14:67,360,151...67,386,516
Ensembl chr14:67,360,151...67,386,516
JBrowse link
G ELANE elastase, neutrophil expressed treatment ISO RGD PMID:10700596 RGD:10450546 NCBI chr19:850,997...856,250
Ensembl chr19:851,014...856,247
JBrowse link
G ENG endoglin ISO RGD PMID:24876084 RGD:11041171 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G EPCAM epithelial cell adhesion molecule ISO RGD PMID:15950761 RGD:11038820 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
JBrowse link
G EPN1 epsin 1 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr19:55,675,226...55,709,533
Ensembl chr19:55,675,226...55,709,858
JBrowse link
G EPO erythropoietin treatment IDA
IMP
RGD PMID:20833153, PMID:20547143 RGD:10400898, RGD:10401066 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:9974119 RGD:10401103 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,470...49,539,538
JBrowse link
G F11 coagulation factor XI ISO RGD PMID:16533887 RGD:11041786 NCBI chr 4:186,265,964...186,290,727
Ensembl chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681
JBrowse link
G F12 coagulation factor XII treatment ISO
IDA
RGD PMID:16533887, PMID:16533887 RGD:11041786, RGD:11041786 NCBI chr 5:177,402,138...177,409,564
Ensembl chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,141...177,409,564
JBrowse link
G F2 coagulation factor II, thrombin EXP CTD Direct Evidence: marker/mechanism CTD PMID:29651748 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:18950622, PMID:23378241 RGD:11341807, RGD:11344885 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,163...70,207,390
Ensembl chr11:70,203,163...70,207,390
JBrowse link
G FGF21 fibroblast growth factor 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr19:48,755,524...48,758,330
Ensembl chr19:48,755,524...48,758,333
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 5:161,685,721...161,702,592
Ensembl chr 5:161,547,063...161,702,593
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:25882840 RGD:13792686 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
JBrowse link
G GHRL ghrelin and obestatin prepropeptide treatment ISO RGD PMID:19352052 RGD:9850083 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947
JBrowse link
G GHSR growth hormone secretagogue receptor ISO RGD PMID:19352052 RGD:9850083 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 treatment ISO RGD PMID:26674869 RGD:11068571 NCBI chr 9:137,139,092...137,168,759
Ensembl chr 9:137,139,154...137,168,756
JBrowse link
G GRN granulin precursor treatment ISO RGD PMID:23972823 RGD:10401661 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
JBrowse link
G GRPEL1 GrpE like 1, mitochondrial ISO mRNA:increased expression:cerebral cortex RGD PMID:12505684 RGD:632868 NCBI chr 4:7,058,895...7,068,064
Ensembl chr 4:7,058,895...7,068,064
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:28440874 RGD:13792734 NCBI chr 3:119,821,321...120,095,823
Ensembl chr 3:119,821,323...120,094,417
Ensembl chr 3:119,821,323...120,094,417
Ensembl chr 3:119,821,323...120,094,417
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum RGD PMID:21957487 RGD:11041635 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HAS2 hyaluronan synthase 2 ISO mRNA:increased expression:brain RGD PMID:11283406 RGD:9588631 NCBI chr 8:121,612,116...121,641,440
Ensembl chr 8:121,612,116...121,641,440
JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO mRNA,protein:decreased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HDAC5 histone deacetylase 5 treatment ISO mRNA,protein:decreased expression:brain: RGD PMID:23480850 RGD:9681449 NCBI chr17:44,076,753...44,123,651
Ensembl chr17:44,076,746...44,123,702
JBrowse link
G HDAC9 histone deacetylase 9 ISO mRNA:increased expression:brain RGD PMID:23480850 RGD:9681449 NCBI chr 7:18,086,825...19,002,416
Ensembl chr 7:18,086,949...19,002,416
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21029239 RGD:9068917 NCBI chr14:61,695,513...61,748,259
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:23480850 RGD:9681449 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO
IMP
RGD PMID:24252362, PMID:23870531, PMID:20888632 RGD:10755587, RGD:10755755, RGD:10755588 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G HP haptoglobin ISO RGD PMID:22103620 RGD:7175514 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 ISO rat gene in mouse model RGD PMID:17473852, PMID:21709150 RGD:5688754, RGD:6218961 NCBI chr 5:133,052,013...133,106,449
Ensembl chr 5:133,052,013...133,106,449
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:increased expression:brain, cytosol (rat)
protein:increased expression:brain, cytosol (mouse)
RGD PMID:16978742, PMID:15306124 RGD:2314385, RGD:5688372 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,725...74,533,332
Ensembl chr 2:74,529,725...74,533,332
JBrowse link
G HVCN1 hydrogen voltage gated channel 1 ISO RGD PMID:31250553 RGD:14985213 NCBI chr12:110,648,686...110,704,945
Ensembl chr12:110,627,841...110,704,950
JBrowse link
G ICAM1 intercellular adhesion molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:16286924 RGD:10045955 NCBI chr 8:42,270,727...42,332,460
Ensembl chr 8:42,271,302...42,332,653
Ensembl chr 8:42,271,302...42,332,653
JBrowse link
G IL11 interleukin 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr19:55,364,382...55,370,463
Ensembl chr19:55,364,382...55,370,463
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:cerebral cortex RGD PMID:23028794 RGD:7204480 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL1B interleukin 1 beta treatment ISO
EXP
protein:increased expression:cerebral cortex (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:25257527, PMID:23028794, PMID:29498696, PMID:24916922 RGD:7204480, RGD:13792833, RGD:10450594 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment IMP human gene in a rat model RGD PMID:7790404 RGD:8551708 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G IL22 interleukin 22 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr12:68,248,242...68,253,604
Ensembl chr12:68,248,242...68,253,604
JBrowse link
G IL4 interleukin 4 ISO protein:increased expression:cerebral cortex RGD PMID:23028794 RGD:7204480 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL5 interleukin 5 ISO RGD PMID:23028794 RGD:7204480 NCBI chr 5:132,539,194...132,556,864
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G IL6 interleukin 6 treatment EXP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:12374626 PMID:21940958 PMID:25257527, PMID:29498696 RGD:13792833 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IL6R interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
JBrowse link
G IL6ST interleukin 6 signal transducer EXP CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G INA internexin neuronal intermediate filament protein alpha ISO RGD PMID:29967576 RGD:27226878 NCBI chr10:103,277,138...103,290,346
Ensembl chr10:103,277,138...103,290,346
JBrowse link
G IRF4 interferon regulatory factor 4 ISO RGD PMID:25652434 RGD:11530061 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,752...411,443
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
JBrowse link
G MAG myelin associated glycoprotein treatment ISO RGD PMID:15678116 RGD:9685232 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:27152455 RGD:13800881 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,754,500...21,867,680
Ensembl chr22:21,754,500...21,867,680
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:27152455 RGD:13800881 NCBI chr16:30,114,105...30,123,309
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:28886009, PMID:25903928, PMID:28886009 RGD:13800886, RGD:13800913, RGD:13800886 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 MMP9 matrix metallopeptidase 9 treatment ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:19309543, PMID:24842554 RGD:13204729 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MT3 metallothionein 3 ISO protein:decreased expression:brain RGD PMID:8869568 RGD:9685807 NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO RGD PMID:24583056, PMID:21185267, PMID:23777415 RGD:10040971, RGD:10041016, RGD:10040974 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 ISO RGD PMID:21386696 RGD:13801046 NCBI chr16:66,802,878...66,830,977
Ensembl chr16:66,802,875...66,873,256
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:28495827 RGD:13781880 NCBI chr 7:106,248,298...106,284,983
Ensembl chr 7:106,248,298...106,286,326
JBrowse link
G NEFH neurofilament heavy ISO RGD PMID:29967576 RGD:27226878 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
JBrowse link
G NEFL neurofilament light ISO protein:increased expression:brain RGD PMID:29967576 RGD:27226878 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,957,110
Ensembl chr 8:24,950,955...24,957,110
JBrowse link
G NEFM neurofilament medium ISO protein:altered expression:brain RGD PMID:29967576 RGD:27226878 NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 treatment ISO RGD PMID:23880501, PMID:24466583 RGD:10412696, RGD:10412714 NCBI chr 2:177,230,303...177,265,131
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO RGD PMID:21122797 RGD:10413868 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,511...35,404,749
Ensembl chr14:35,401,511...35,404,749
JBrowse link
G NGF nerve growth factor EXP CTD Direct Evidence: therapeutic CTD PMID:10408807 NCBI chr 1:115,285,915...115,338,253
Ensembl chr 1:115,285,917...115,338,256
Ensembl chr 1:115,285,917...115,338,256
Ensembl chr 1:115,285,917...115,338,256
JBrowse link
G NGFR nerve growth factor receptor treatment ISO RGD PMID:22678884 RGD:10413900 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 treatment ISO RGD PMID:24842554 RGD:13204729 NCBI chr16:50,693,587...50,733,077
Ensembl chr16:50,693,588...50,734,041
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:brain (rat)
mRNA:increased expression:brain (mouse)
RGD PMID:21959178, PMID:22020035 RGD:5508751, RGD:5509037 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO protein:increased expression:brain RGD PMID:21120604, PMID:25069640 RGD:5133239, RGD:11035212 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
JBrowse link
G NRG1 neuregulin 1 treatment IDA RGD PMID:20691195 RGD:10449015 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase treatment ISO associated with Hypertension RGD PMID:17920569 RGD:8657395 NCBI chr 3:9,749,952...9,788,246
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G PARK7 Parkinsonism associated deglycase treatment IDA RGD PMID:17882163 RGD:13463450 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 treatment ISO RGD PMID:21311064, PMID:25882840, PMID:23143152, PMID:23801245 RGD:5683909, RGD:13792686, RGD:10054501, RGD:11073732 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,691...226,408,093
JBrowse link
G PAWR pro-apoptotic WT1 regulator treatment ISO protein:increased expression:brain: RGD PMID:16403464, PMID:19352052, PMID:11323519 RGD:9835380, RGD:9850083, RGD:9835381 NCBI chr12:79,584,879...79,691,097
Ensembl chr12:79,574,979...79,690,964
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha treatment ISO RGD PMID:16917016 RGD:11084934 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:16917016 RGD:11084934 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PLAT plasminogen activator, tissue type ISO
EXP
CTD Direct Evidence: therapeutic CTD PMID:12297567 PMID:17690543 PMID:18453163 PMID:20547619 PMID:29651748, PMID:14512838 RGD:1580876 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,676
Ensembl chr 8:42,174,718...42,207,676
JBrowse link
G PLAU plasminogen activator, urokinase EXP CTD Direct Evidence: therapeutic CTD PMID:11677890 PMID:15181847 PMID:17702958 NCBI chr10:73,909,182...73,917,497
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PLD1 phospholipase D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950
JBrowse link
G PRKCG protein kinase C gamma IEP RGD PMID:14688616 RGD:1358416 NCBI chr19:53,882,197...53,907,652
Ensembl chr19:53,879,190...53,907,652
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:24159062 RGD:11100027 NCBI chr 2:127,418,143...127,429,246
Ensembl chr 2:127,418,427...127,429,246
Ensembl chr 2:127,418,427...127,429,246
JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 ISO mRNA:increased expression:cerebral cortex RGD PMID:15869933 RGD:9590118 NCBI chr 7:121,873,161...122,062,036
Ensembl chr 7:121,873,089...122,062,036
JBrowse link
G RELN reelin severity ISO RGD PMID:16438965 RGD:13207538 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,784...103,989,658
JBrowse link
G RGMA repulsive guidance molecule BMP co-receptor a treatment ISO RGD PMID:21840379, PMID:23275173 RGD:9850121, RGD:9850122 NCBI chr15:93,035,271...93,089,211
Ensembl chr15:93,035,273...93,089,204
JBrowse link
G RPL28 ribosomal protein L28 ISO RGD PMID:16805800 RGD:6480229 NCBI chr19:55,385,932...55,403,342
Ensembl chr19:55,385,345...55,403,250
Ensembl chr19:55,385,345...55,403,250
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:increased expression:brain RGD PMID:24672479 RGD:11251714 NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO mRNA:increased expression:brain RGD PMID:24672479 RGD:11251714 NCBI chr21:34,787,801...35,049,334
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G S100A5 S100 calcium binding protein A5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25257527 NCBI chr 1:153,537,114...153,543,514
Ensembl chr 1:153,537,147...153,541,765
JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:14512838 RGD:1580876 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO RGD PMID:22714093 RGD:8655545 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SERPINH1 serpin family H member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
JBrowse link
G SHH sonic hedgehog signaling molecule treatment IDA RGD PMID:22324418 RGD:12879461 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIRT1 sirtuin 1 treatment ISO RGD PMID:23600725, PMID:23600725 RGD:9585664, RGD:9585664 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
JBrowse link
G SLC12A2 solute carrier family 12 member 2 treatment ISO
IEP
protein:increased expression:brain: RGD PMID:12535773, PMID:27798271 RGD:1580583, RGD:14398833 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
JBrowse link
G SLC2A1 solute carrier family 2 member 1 treatment ISO RGD PMID:9419067 RGD:12879855 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G SLC9A1 solute carrier family 9 member A1 treatment ISO RGD PMID:31250553 RGD:14985213 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
JBrowse link
G SLPI secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:14500739 RGD:9999390 NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564
JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:23696546, PMID:23499832 RGD:12832759, RGD:12879404 NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SMOX spermine oxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30576531 NCBI chr20:4,148,828...4,187,732
Ensembl chr20:4,120,980...4,187,747
JBrowse link
G SNAP91 synaptosome associated protein 91 ISO protein:increased degradation:brain RGD PMID:19240038 RGD:13461853 NCBI chr 6:83,552,885...83,709,408
Ensembl chr 6:83,552,880...83,709,691
JBrowse link
G SOD1 superoxide dismutase 1 treatment ISO mRNA, protein:increased expression:cerebral cortex (rat) RGD PMID:22001340, PMID:22133807 RGD:8657021, RGD:8657023 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,622...31,668,931
Ensembl chr21:31,659,622...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SPHK2 sphingosine kinase 2 EXP CTD Direct Evidence: therapeutic CTD PMID:23043544 NCBI chr19:48,619,409...48,630,407
Ensembl chr19:48,619,291...48,630,717
JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21940958 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:31409163 RGD:14995477 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TH tyrosine hydroxylase ISO protein:decreased expression:substantia nigra pars compacta, neuron (rat) RGD PMID:21366664 RGD:5128609 NCBI chr11:2,163,929...2,174,081
Ensembl chr11:2,163,929...2,171,877
Ensembl chr11:2,163,929...2,171,877
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:24916922, PMID:15647744, PMID:29498696 RGD:10450594, RGD:13825261, RGD:13792833 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFAIP6 TNF alpha induced protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 2:151,357,592...151,380,046
Ensembl chr 2:151,357,592...151,380,046
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:15647744 RGD:13825261 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G UPP1 uridine phosphorylase 1 ISO mRNA, protein:increased expression:brain (rat) RGD PMID:18457515 RGD:2317094 NCBI chr 7:48,088,308...48,108,736
Ensembl chr 7:48,088,628...48,108,736
JBrowse link
G XDH xanthine dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:12374626 NCBI chr 2:31,334,320...31,414,777
Ensembl chr 2:31,334,321...31,414,742
JBrowse link
Moyamoya disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP
IEA
ClinVar Annotator: match by term: Moyamoya disease
OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750
ClinVar
MouseDO
PMID:25741868 PMID:28492532 NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820
JBrowse link
G FAS Fas cell surface death receptor IAGP ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IEA OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750 MouseDO NCBI chr 4:155,666,725...155,737,059
Ensembl chr 4:155,666,726...155,737,059
Ensembl chr 4:155,666,726...155,737,059
JBrowse link
G RNF213 ring finger protein 213 IEA OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750 MouseDO NCBI chr17:80,260,820...80,398,794
Ensembl chr17:80,260,866...80,398,786
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 IAGP RGD PMID:16723886 RGD:1580650 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
Moyamoya Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 1 ClinVar PMID:26777256 NCBI chr 4:155,666,725...155,737,059
Ensembl chr 4:155,666,726...155,737,059
Ensembl chr 4:155,666,726...155,737,059
JBrowse link
Moyamoya Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF213 ring finger protein 213 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Moyamoya disease 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:25278557 PMID:25741868 PMID:28492532 PMID:31474762 NCBI chr17:80,260,820...80,398,794
Ensembl chr17:80,260,866...80,398,786
JBrowse link
G RNF213-AS1 RNF213 antisense RNA 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar PMID:21799892 PMID:25278557 PMID:25741868 PMID:28492532 PMID:31474762 NCBI chr17:80,351,830...80,415,168
Ensembl chr17:80,351,828...80,415,168
JBrowse link
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCAP31 B cell receptor associated protein 31 IAGP ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 PMID:25741868 NCBI chr  X:153,700,492...153,724,746
Ensembl chr  X:153,700,492...153,724,565
JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588
JBrowse link
Moyamoya Disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP ClinVar Annotator: match by term: Moyamoya disease 5 ClinVar
OMIM
PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:17994018 PMID:19409525 PMID:20734336 PMID:20970362 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23253043 PMID:23613326 PMID:24033266 PMID:24293535 PMID:24621862 PMID:24998021 PMID:25326635 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26637293 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:28492532 PMID:29300374 PMID:30311386 NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 5 ClinVar PMID:17994018 PMID:19409525 PMID:25644172 PMID:26153420 PMID:28492532 NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820
JBrowse link
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia ClinVar
OMIM
PMID:24581742 PMID:25741868 PMID:26777256 NCBI chr 4:155,666,725...155,737,059
Ensembl chr 4:155,666,726...155,737,059
Ensembl chr 4:155,666,726...155,737,059
JBrowse link
Multi-Infarct Dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein IEP protein:decreased expression:cerebrospinal fluid: RGD PMID:1677459 RGD:10054257 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:18938189 RGD:10054050 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:21279683 RGD:10449132 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,531,391...154,547,572
JBrowse link
G IL2 interleukin 2 severity IEP protein:increased secretion:mononuclear cell: RGD PMID:8586980 RGD:10047081 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
vascular dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:22312439 PMID:25104557 PMID:25174650 PMID:25604855 PMID:26242991 PMID:26467025 PMID:27312774 PMID:28492532 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,550...26,171,128
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IEP RGD PMID:24448401 RGD:14696801 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
JBrowse link
G AVP arginine vasopressin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr20:3,082,556...3,093,521
Ensembl chr20:3,082,556...3,084,724
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:24622829 RGD:10059369 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G C1R complement C1r IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CCM2 CCM2 scaffold protein IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G CDK5 cyclin dependent kinase 5 treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
JBrowse link
G COL4A2-AS1 COL4A2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr13:110,502,576...110,508,179
Ensembl chr13:110,502,575...110,508,179
JBrowse link
G EIF4E eukaryotic translation initiation factor 4E ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 4:98,879,276...98,929,133
Ensembl chr 4:98,871,684...98,930,637
JBrowse link
G EPO erythropoietin ISO RGD PMID:17037738 RGD:10400891 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:22500404 RGD:10402076 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GCLM glutamate-cysteine ligase modifier subunit susceptibility IAGP associated with stroke;DNA:polymorphism:promoter:-588C>T(human) RGD PMID:17548779 RGD:10402374 NCBI chr 1:93,885,199...93,910,370
Ensembl chr 1:93,885,199...93,909,456
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24968700 RGD:11352822 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,358
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IEP associated with Alzheimer's disease RGD PMID:25261450 RGD:13792687 NCBI chr 9:137,139,092...137,168,759
Ensembl chr 9:137,139,154...137,168,756
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IEP RGD PMID:25261450 RGD:13792687 NCBI chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B severity IEP RGD PMID:25261450 RGD:13792687 NCBI chr12:13,537,337...13,982,012
Ensembl chr12:13,437,942...13,982,002
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:27118553 RGD:13792766 NCBI chr 3:119,821,321...120,095,823
Ensembl chr 3:119,821,323...120,094,417
Ensembl chr 3:119,821,323...120,094,417
Ensembl chr 3:119,821,323...120,094,417
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A IAGP DNA:polymorphism: :-110A>C(human) RGD PMID:15832029 RGD:10402403 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:24500651 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
G IGF1 insulin like growth factor 1 severity IEP
ISO
mRNA,protein:decreased expression:hippocampus: RGD PMID:16181175, PMID:22342912 RGD:1598446, RGD:10045864 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP RGD PMID:16983186 RGD:10045873 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IL1B interleukin 1 beta IEP protein:increased expression:plasma RGD PMID:16600299 RGD:1626633 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G ITM2B integral membrane protein 2B IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,131,774...92,245,924
Ensembl chr 7:92,131,774...92,245,924
JBrowse link
G LPA lipoprotein(a) IEP protein:alternative form:plasma:presence of low molecular weight isoform(s) increased risk RGD PMID:15211075 RGD:5509891 NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,483...160,664,259
Ensembl chr 6:160,531,483...160,664,259
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:27118553 RGD:13792766 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 MMP2 matrix metallopeptidase 2 ISO RGD PMID:16385583 RGD:1582624 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:26308724 PMID:26467025 PMID:27844030 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G NPPA natriuretic peptide A IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G PON2 paraoxonase 2 IAGP DNA:missense mutation:cds:p.C311S (human) RGD PMID:11803456 RGD:1580219 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
JBrowse link
G PSEN2 presenilin 2 IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 1:226,870,594...226,903,829
Ensembl chr 1:226,870,184...226,896,105
Ensembl chr 1:226,870,184...226,896,105
JBrowse link
G RPGRIP1L RPGRIP1 like susceptibility IAGP DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) RGD PMID:22425971 RGD:13204815 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G RPS6 ribosomal protein S6 treatment ISO RGD PMID:25767501 RGD:11041644 NCBI chr 9:19,375,715...19,380,236
Ensembl chr 9:19,375,715...19,380,236
JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19465911 NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312
JBrowse link
G SNCA synuclein alpha IEP protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 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
G SNCG synuclein gamma IEP protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr10:86,955,759...86,963,260
Ensembl chr10:86,958,599...86,963,258
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 IDA DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human) RGD PMID:16082694 RGD:1581412 NCBI chr22:41,833,105...41,907,308
Ensembl chr22:41,833,079...41,907,307
JBrowse link
G SST somatostatin ISO protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr 3:187,668,912...187,670,394
Ensembl chr 3:187,668,912...187,670,394
JBrowse link
G TMEM106B transmembrane protein 106B IAGP ClinVar Annotator: match by term: Vascular dementia ClinVar NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
JBrowse link
G TNF tumor necrosis factor susceptibility IAGP DNA:polymorphism:promoter:-850C>T(human) RGD PMID:11273064 RGD:13825254 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:brain RGD PMID:18083315 RGD:2290557 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18952
    disease of anatomical entity 17438
      cardiovascular system disease 3922
        vascular disease 2816
          cerebrovascular disease 842
            intracranial arterial disease 260
              arteriovenous malformations of the brain + 27
              cerebral arterial disease + 203
              intracranial aneurysm + 31
              intracranial arteriosclerosis + 52
Path 2
Term Annotations click to browse term
  disease 18952
    disease of anatomical entity 17438
      nervous system disease 13527
        central nervous system disease 11589
          brain disease 10775
            cerebrovascular disease 842
              intracranial arterial disease 260
                arteriovenous malformations of the brain + 27
                cerebral arterial disease + 203
                intracranial aneurysm + 31
                intracranial arteriosclerosis + 52
paths to the root