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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:Leukoencephalopathies
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Accession:DOID:9002704 term browser browse the term
Definition:Any of various diseases affecting the white matter of the central nervous system.
Synonyms:exact_synonym: CACH Syndromes;   CACH VWM Syndrome;   CACH VWM Syndromes;   CACH syndrome;   Childhood Ataxia with Diffuse Central Nervous System Hypomyelination;   Hypomyelination of the central nervous system;   Leukoencephalopathy;   Myelinosis Centralis Diffusa;   Myelinosis Centralis Diffusas;   White Matter Disease;   white matter diseases
 primary_id: MESH:D056784
 alt_id: OMIA:000526;   RDO:0001248


show annotations for term's descendants           Sort by:
Leukoencephalopathies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Leukoencephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:52,208,035...52,240,293
Ensembl chr18:52,204,161...52,240,467 		JBrowse link
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination ClinVar PMID:25741868 NCBI chr12:52,077,863...52,110,775
Ensembl chr12:52,077,480...52,108,708 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: CACH/VWM syndrome ClinVar PMID:25741868 NCBI chr  X:140,182,734...140,302,812
Ensembl chr  X:140,182,734...140,344,458 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP RGD PMID:24322053 RGD:10045369 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B treatment IDA RGD PMID:24322053 RGD:10045369 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20385946 NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197934 NCBI chr18:56,834,152...56,860,804
Ensembl chr18:56,817,049...56,860,806 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11148247 NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:209,293,929...210,159,778 		JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: CACH/VWM syndrome ClinVar PMID:11835386 PMID:15776425 PMID:16199547 PMID:16807905 PMID:18263758 More... NCBI chr12:37,686,149...37,694,830
Ensembl chr12:37,686,559...37,708,078 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: CACH/VWM syndrome
ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome 		ClinVar PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 More... NCBI chr 6:110,597,979...110,604,403
Ensembl chr 6:110,597,729...110,604,403 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome ClinVar PMID:11835386 PMID:15776425 PMID:16807905 PMID:18263758 PMID:18414213 More... NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:135,728,959...135,799,914 		JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination | ClinVar Annotator: match by term: Myelinosis centralis diffusa ClinVar PMID:11835386 PMID:12707859 PMID:15054402 PMID:15136673 PMID:15507143 More... NCBI chr 6:30,903,148...30,908,803
Ensembl chr 6:30,903,219...30,908,800 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination | ClinVar Annotator: match by term: Leukoencephalopathy | ClinVar Annotator: match by term: Myelinosis centralis diffusa ClinVar PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14566705 More... NCBI chr11:93,898,814...93,909,431
Ensembl chr11:93,898,814...93,908,800 		JBrowse link
G Fnip2 folliculin interacting protein 2 ISO Hypomyelination of the central nervous system OMIA PMID:676669 PMID:731520 PMID:3577694 PMID:7315204 PMID:20973788 More... NCBI chr 2:166,894,726...167,006,490
Ensembl chr 2:166,897,075...167,006,055 		JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: CACH/VWM syndrome ClinVar PMID:25741868 NCBI chr 6:110,612,535...110,649,408
Ensembl chr 6:110,612,535...110,648,999 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15753437 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15753437 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Leukoencephalopathy ClinVar PMID:25741868 PMID:34715011 NCBI chr 6:78,404,821...78,497,562
Ensembl chr 6:78,405,980...78,497,761 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302 		JBrowse link
G Scp2 sterol carrier protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685654 NCBI chr 5:128,035,714...128,110,015
Ensembl chr 5:128,008,125...128,110,043 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11868353 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820 		JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15753437 NCBI chr14:83,036,935...83,052,187
Ensembl chr14:83,036,935...83,051,552 		JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Leukoencephalopathy ClinVar PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chr 8:53,580,939...53,595,378
Ensembl chr 8:53,580,939...53,595,377 		JBrowse link
acute disseminated encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma disease_progression ISO protein:increased expression:T cell: RGD PMID:11063842 RGD:8157598 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Nefl neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism, haplotype: : 		RGD PMID:19722042 PMID:22786832 RGD:5147662, RGD:36049763 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism, haplotype: : 		RGD PMID:19722042 PMID:22786832 RGD:5147662, RGD:36049763 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
Acute Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mag myelin-associated glycoprotein IEP protein:decreased expression:optic nerve RGD PMID:9820787 RGD:9685300 NCBI chr 1:95,275,728...95,291,133
Ensembl chr 1:95,275,635...95,291,060 		JBrowse link
G Zc3h12a zinc finger CCCH type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chr 5:142,661,193...142,670,051
Ensembl chr 5:142,661,199...142,669,985 		JBrowse link
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc13a3 solute carrier family 13 member 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | ClinVar Annotator: match by term: SLC13A3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30635937 NCBI chr 3:174,561,174...174,623,893
Ensembl chr 3:174,561,168...174,623,895 		JBrowse link
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar PMID:6595937 PMID:31775912 NCBI chr19:55,906,694...55,930,499
Ensembl chr19:55,906,702...55,930,497 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: CSF1R-Related Adult-Onset Leukoencephalopathy | ClinVar Annotator: match by term: CSF1R-related condition | ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids | ClinVar Annotator: match by term: Leukoencephalopathy, diffuse hereditary, with spheroids 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2219734 PMID:2470618 PMID:8614507 PMID:9536098 PMID:16523341 More... NCBI chr18:56,834,152...56,860,804
Ensembl chr18:56,817,049...56,860,806 		JBrowse link
Adult-Onset Muscular Dystrophy with Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Muscular dystrophy, adult-onset, with leukoencephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042466 NCBI chr 8:108,063,468...108,076,638
Ensembl chr 8:108,063,471...108,076,638 		JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr20:27,130,934...27,209,672
Ensembl chr20:27,130,934...27,209,630 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:142,736,653...142,792,999 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP 		DNA:mutations:cds:
ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers disease | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers progressive infantile poliodystrophy | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds: 		ClinVar
CTD
OMIM
RGD		 PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr 7:10,610,149...10,620,411
Ensembl chr 7:10,610,198...10,621,205 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr20:26,984,520...27,036,573
Ensembl chr20:26,985,275...27,036,571 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:142,718,262...142,731,621 		JBrowse link
Atypical Krabbe Disease due to Saposin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Psap prosaposin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency 		CTD
OMIM
ClinVar		 PMID:1350885 PMID:2302219 PMID:2320574 PMID:3063208 PMID:8554069 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,757,181...28,783,421 		JBrowse link
brain small vessel disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO
ISS 		ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT
OMIM:175780 		ClinVar
OMIM
MouseDO		 PMID:906807 PMID:2211826 PMID:3691802 PMID:6428250 PMID:7257746 More... NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT ClinVar PMID:25741868 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
CADASIL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:118,586,909...118,600,944 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CASIL | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 		CTD
ClinVar		 PMID:3435268 PMID:8878478 PMID:9388399 PMID:10371548 PMID:11102981 More... NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: CASIL ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:118,585,081...118,586,083 		JBrowse link
CADASIL 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO
ISS 		ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM:125310 		OMIM
ClinVar
MouseDO		 PMID:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 More... NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778 		JBrowse link
CADASIL2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | ClinVar Annotator: match by term: HTRA1-related autosomal dominant cerebral small vessel disease OMIM
ClinVar		 PMID:11889251 PMID:19387015 PMID:25712943 PMID:25741868 PMID:26063658 More... NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 ClinVar PMID:28492532 NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778 		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 Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease OMIM
ClinVar		 PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More... NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: CARASIL ClinVar PMID:9536098 PMID:15737703 PMID:17576681 PMID:20142466 PMID:24500651 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease ClinVar PMID:24500651 PMID:27148565 NCBI chr18:28,159,103...28,179,539
Ensembl chr18:28,125,126...28,211,111 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome 		CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:256,315,367...256,370,736 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 More... NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr10:54,189,157...54,210,685
Ensembl chr10:54,189,157...54,207,272 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:256,315,367...256,370,736 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24686846 PMID:25482530 PMID:25741868 More... NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:55,170,821...55,228,543 		JBrowse link
Chronic Relapsing Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA:increased expression:spinal cord (rat) RGD PMID:12098510 RGD:8655962 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:decreased expression:spinal cord: RGD PMID:12742652 RGD:27226817 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417 		JBrowse link
G Plp1 proteolipid protein 1 ISO human sequence peptide in a mouse model; associated with Herpesviridae infections RGD PMID:12811845 RGD:30296670 NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:104,975,780...104,993,314 		JBrowse link
G Serpine1 serpin family E member 1 ISO RGD PMID:17983428 RGD:13208507 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: EARS2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22492562 PMID:23008233 PMID:24706556 More... NCBI chr 1:176,597,986...176,625,848 JBrowse link
G Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ClinVar PMID:25741868 NCBI chr 1:176,552,046...176,585,332
Ensembl chr 1:185,983,223...186,057,074 		JBrowse link
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chr20:28,484,044...28,574,195
Ensembl chr20:28,483,956...28,574,200 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chr20:28,657,308...28,694,976
Ensembl chr20:28,657,308...28,694,526 		JBrowse link
G Psap prosaposin ISO
ISS 		ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: PROSAPOSIN DEFICIENCY | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
OMIM:611721
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
MouseDO
CTD		 PMID:1350885 PMID:1371116 PMID:1689485 PMID:2019586 PMID:2066109 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,757,181...28,783,421 		JBrowse link
G Spock2 SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2 ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chr20:28,580,262...28,607,198
Ensembl chr20:28,580,226...28,608,409 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chr20:28,824,493...28,850,175
Ensembl chr20:28,823,945...28,850,175 		JBrowse link
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy OMIM
ClinVar		 PMID:21427441 PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chr19:39,957,846...39,976,837
Ensembl chr19:56,867,096...56,886,073 		JBrowse link
developmental and epileptic encephalopathy 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a12 solute carrier family 25 member 12 ISO
ISS 		OMIM:612949
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 | ClinVar Annotator: match by term: SLC25A12-related condition 		OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:19641205 PMID:24515575 PMID:25741868 More... NCBI chr 3:76,504,868...76,599,536
Ensembl chr 3:76,504,868...76,599,536 		JBrowse link
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy ClinVar PMID:25741868 PMID:27122014 PMID:27290639 PMID:27616477 PMID:28492532 More... NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:175,816,824...175,818,889 		JBrowse link
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 ClinVar PMID:25719457 NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520 		JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | ClinVar Annotator: match by term: NAXE-related condition OMIM
ClinVar		 PMID:25741868 PMID:27290639 PMID:27616477 PMID:28492532 PMID:31745726 More... NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:175,816,824...175,818,889 		JBrowse link
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | ClinVar Annotator: match by term: NAXD-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30576410 PMID:31755961 PMID:32462209 More... NCBI chr16:77,986,148...78,004,200
Ensembl chr16:84,688,243...84,706,411 		JBrowse link
Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin treatment IDA RGD PMID:1710603 RGD:10046021 NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:156,569,860...156,619,868 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP RGD PMID:15878627 RGD:1559178 NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:46,601,583...46,649,344 		JBrowse link
G Adam8 ADAM metallopeptidase domain 8 ISO RGD PMID:9670863 RGD:2325244 NCBI chr 1:204,206,206...204,218,988
Ensembl chr 1:204,206,199...204,218,485 		JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:altered expression:spinal cord (rat) RGD PMID:19246105 RGD:2313022 NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,652,243...3,657,339 		JBrowse link
G Akap12 A-kinase anchoring protein 12 IEP mRNA,protein:increased expression:spinal cord RGD PMID:20155814 RGD:14348972 NCBI chr 1:43,135,515...43,225,245
Ensembl chr 1:43,199,008...43,225,557 		JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:15328042 RGD:5509618 NCBI chr10:55,559,060...55,567,535
Ensembl chr10:55,559,061...55,567,723 		JBrowse link
G Amigo2 adhesion molecule with Ig like domain 2 severity ISO RGD PMID:28119027 RGD:14392778 NCBI chr 7:130,270,639...130,273,735
Ensembl chr 7:130,270,554...130,282,218 		JBrowse link
G Anxa1 annexin A1 IEP protein:increased expression:brain, astrocyte, macrophage RGD PMID:9472682 RGD:2306942 NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:227,287,717...227,306,831 		JBrowse link
G Apoe apolipoprotein E IEP RGD PMID:28578430 RGD:13703134 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Aqp4 aquaporin 4 disease_progression
severity 		ISO
IEP 		RGD PMID:21056916 PMID:23707078 PMID:21157915 PMID:19660138 RGD:5148015, RGD:8696030, RGD:5490117, RGD:5490116 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
G B2m beta-2 microglobulin ISO RGD PMID:15837577 RGD:6482690 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:129,549,318...129,555,356 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:astrocyte RGD PMID:25216636 RGD:14390079 NCBI chr18:12,233,350...12,290,204
Ensembl chr18:12,233,351...12,290,204 		JBrowse link
G Bdnf brain-derived neurotrophic factor IEP RGD PMID:23212569 RGD:10059360 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G C3 complement C3 IEP protein:increased expression:cerebrospinal fluid RGD PMID:22320401 RGD:7175513 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G C6 complement C6 severity IAGP RGD PMID:11970970 RGD:625607 NCBI chr 2:55,573,596...55,648,857
Ensembl chr 2:55,573,653...55,649,120 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B IEP RGD PMID:11353727 RGD:1580151 NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:27,779,166...27,944,285 		JBrowse link
G Calca calcitonin-related polypeptide alpha no_association ISO RGD PMID:19563774 RGD:5684360 NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:178,312,638...178,317,529 		JBrowse link
G Casp3 caspase 3 IEP protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732 		JBrowse link
G Casp8 caspase 8 IEP protein:increased activity, increased expression:spinal cord RGD PMID:18521931 RGD:2311436 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:67,758,033...67,806,699 		JBrowse link
G Casp9 caspase 9 IEP protein:increased expression:spinal cord RGD PMID:18521931 RGD:2311436 Ensembl chr 5:159,391,188...159,409,648 JBrowse link
G Cav3 caveolin 3 onset IEP Protein:increased expression:spinal cord, astrocyte RGD PMID:15925413 RGD:1582168 NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:147,137,797...147,153,967 		JBrowse link
G Cblb Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr11:62,058,829...62,225,904
Ensembl chr11:62,061,653...62,225,778 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 IEP mRNA:decreased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,625,962...67,628,790 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 IEP mRNA:increased expression:lymph node RGD PMID:19865101 RGD:4145472 NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,525,862...67,530,575 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA:increased expression:spinal cord
mRNA:decreased expression:lymph node
mRNA:increased expression:optic chiasma (rat) 		RGD PMID:17666800 PMID:19865101 PMID:11241588 RGD:2307114, RGD:4145472, RGD:8548888 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IEP mRNA:increased expression:spinal cord RGD PMID:17666800 RGD:2307114 NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO
IEP 		protein:increased expression:brain (mouse)
mRNA:increased expression:spinal cord 		RGD PMID:15833367 PMID:17666800 RGD:4890027, RGD:2307114 NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 IEP
IMP 		RGD PMID:14655765 PMID:14512166 RGD:5688165, RGD:5688167 NCBI chr 8:132,433,711...132,439,266
Ensembl chr 8:132,431,592...132,439,374 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP mRNA:increased expression:spinal cord RGD PMID:9655467 RGD:632391 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:15034073 RGD:6893394 NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:132,463,788...132,511,593 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 IEP mRNA:increased expression:spinal cord, macrophage, microglia (rat) RGD PMID:17484785 RGD:4890436 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594 		JBrowse link
G Cd28 Cd28 molecule IMP RGD PMID:16061730 RGD:2307203 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192 		JBrowse link
G Cd4 Cd4 molecule treatment IEP
IMP 		protein:decreased expression:T lymphocyte: RGD PMID:9138014 PMID:3097071 RGD:10058963, RGD:10058968 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461 		JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:9379015 RGD:6902906 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:75,760,147...75,797,540 		JBrowse link
G Cd86 CD86 molecule resistance
disease_progression 		ISO
IEP 		protein:increased expression:spinal cord, blood vessel (rat) RGD PMID:10477557 PMID:20451260 RGD:4892227, RGD:4892207 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator IAGP RGD PMID:15821736 RGD:1358146 NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,647,085...5,694,342 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase IDA RGD PMID:21107918 PMID:7541143 PMID:10650887 RGD:6483335, RGD:6483353, RGD:6483351 NCBI chr10:86,011,504...86,018,063
Ensembl chr10:86,011,495...86,018,063 		JBrowse link
G Comt catechol-O-methyltransferase treatment ISO RGD PMID:25242632 RGD:13450949 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:96,072,489...96,092,533 		JBrowse link
G Cpb2 carboxypeptidase B2 IEP RGD PMID:22768796 RGD:7243111 NCBI chr15:56,967,128...57,015,964
Ensembl chr15:56,966,839...57,015,962 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO
IEP 		protein:increased expression:spinal cord RGD PMID:21679768 PMID:20162860 RGD:5686852, RGD:5686863 NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:66,160,942...66,200,806 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:9379015 RGD:6902906 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Ctsc cathepsin C IEP RGD PMID:843913 RGD:1599653 NCBI chr 1:151,440,860...151,472,430
Ensembl chr 1:151,441,032...151,474,082 		JBrowse link
G Ctss cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:185,775,296...185,803,440 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:16053521 RGD:4891973 NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,233,329...10,242,999 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP
IMP 		RGD PMID:16053521 PMID:24706865 RGD:4891973, RGD:9491767 NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:19616545 RGD:7257694 NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:83,183,808...83,188,602 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IMP RGD PMID:21038468 RGD:5135506 NCBI chr  X:70,884,293...70,886,944
Ensembl chr  X:70,883,958...70,886,871 		JBrowse link
G Dab2 DAB adaptor protein 2 disease_progression IEP RGD PMID:21890121 RGD:7243155 NCBI chr 2:57,241,947...57,294,893
Ensembl chr 2:57,242,064...57,294,888 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:24676147 RGD:150520045 NCBI chr 6:134,192,491...134,199,779
Ensembl chr 6:134,192,518...134,200,529 		JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr 1:64,985,161...64,993,274
Ensembl chr 1:64,985,161...64,993,276 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:21813770 RGD:155663662 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:126,770,794...126,780,763 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO RGD PMID:15306813 RGD:7775013 NCBI chr13:98,145,317...98,183,304
Ensembl chr13:98,145,893...98,183,304 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 disease_progression IEP RGD PMID:19524108 RGD:9685491 NCBI chr 1:249,374,810...249,502,310
Ensembl chr 1:249,374,836...249,502,317 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:18382691 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,830,428...91,920,791 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:21565615 PMID:21182085 RGD:5508732, RGD:5508735 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709 		JBrowse link
G Faslg Fas ligand treatment ISO RGD PMID:10944459 RGD:12903984 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:12576552 RGD:5508383 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Fgf2 fibroblast growth factor 2 IEP mRNA:increased expression:spinal cord RGD PMID:8929896 PMID:9814819 RGD:8655647, RGD:9831448 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:18721816 RGD:10402153 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750 		JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr20:47,251,968...47,348,254
Ensembl chr20:47,255,878...47,346,845 		JBrowse link
G Ghrh growth hormone releasing hormone resistance ISO RGD PMID:21846799 RGD:5687168 NCBI chr 3:166,412,763...166,432,519
Ensembl chr 3:166,412,764...166,431,880 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide treatment IDA RGD PMID:19620309 RGD:12905041 NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:148,421,315...148,425,969 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO protein:decreased expression:white matter of spinal cord, gap junction (mouse) RGD PMID:22461072 RGD:13208593 NCBI chr10:44,462,203...44,470,924
Ensembl chr10:44,462,054...44,470,340 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:65,042,237...65,054,540 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO mRNA, protein:decreased expression:spinal cord RGD PMID:9145307 RGD:6484657 NCBI chr16:9,646,569...9,680,215
Ensembl chr16:9,646,509...9,680,210 		JBrowse link
G Gpx3 glutathione peroxidase 3 IEP RGD PMID:22320401 RGD:7175513 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,529,448...39,537,405 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO
IEP 		mRNA:increased expression:spinal cord: RGD PMID:11823861 PMID:15913792 RGD:9686086, RGD:9686113 NCBI chr10:31,383,801...31,415,334
Ensembl chr10:31,383,925...31,413,872 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO
IMP 		RGD PMID:17085013 PMID:14691063 RGD:5508469, RGD:5508476 NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:29,720,553...29,754,533 		JBrowse link
G Ifnb1 interferon beta 1 ameliorates
treatment
exacerbates 		ISO
IDA
IMP 		RGD PMID:9578846 PMID:8955226 PMID:19380780 PMID:18997868 RGD:401854237, RGD:401854247, RGD:401854246, RGD:5147399 NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487 		JBrowse link
G Ifng interferon gamma disease_progression
treatment 		ISO RGD PMID:15661899 PMID:22896638 RGD:7987912, RGD:10755692 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO human protein in a rat model RGD PMID:7541143 RGD:6483353 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Il10 interleukin 10 treatment IDA RGD PMID:23872438 RGD:7364993 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha IEP RGD PMID:12620647 RGD:2316323 NCBI chr 8:54,459,754...54,474,786
Ensembl chr 8:54,459,882...54,475,028 		JBrowse link
G Il12a interleukin 12A ISO RGD PMID:12471147 RGD:724447 NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:155,275,625...155,282,997 		JBrowse link
G Il12b interleukin 12B IEP mRNA, protein:increased expression:lymph node RGD PMID:19233473 RGD:4831840 NCBI chr10:29,390,300...29,405,194
Ensembl chr10:29,389,905...29,405,194 		JBrowse link
G Il13 interleukin 13 severity ISO RGD PMID:18250480 PMID:7523520 RGD:5684366, RGD:5684367 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483 		JBrowse link
G Il16 interleukin 16 IMP RGD PMID:17641011 RGD:5024940 NCBI chr 1:147,026,852...147,127,177
Ensembl chr 1:147,027,097...147,127,023 		JBrowse link
G Il17a interleukin 17A treatment IEP
ISO
IDA 		mRNA, protein:increased expression:lymph node RGD PMID:19233473 PMID:16200068 PMID:20003332 PMID:16785554 RGD:4831840, RGD:9212317, RGD:4888522, RGD:4889113 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331 		JBrowse link
G Il18 interleukin 18 IMP
IEP 		mRNA:increased expression:spinal cord RGD PMID:9834127 PMID:9846824 RGD:4889543, RGD:4889542 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Il18r1 interleukin 18 receptor 1 IEP mRNA:increased expression:lymph node RGD PMID:19269041 RGD:2311529 NCBI chr 9:50,223,274...50,257,370
Ensembl chr 9:50,223,200...50,257,367 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:7593560 RGD:8551836 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il21 interleukin 21 IDA RGD PMID:18997868 RGD:5147399 NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142 		JBrowse link
G Il21r interleukin 21 receptor no_association
disease_progression 		ISO RGD PMID:18546146 PMID:18353312 RGD:6892939, RGD:6892940 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:189,598,558...189,626,342 		JBrowse link
G Il22 interleukin 22 IEP RGD PMID:19269041 RGD:2311529 NCBI chr 7:55,687,061...55,691,526
Ensembl chr 7:55,686,896...55,692,201 		JBrowse link
G Il27 interleukin 27 ISO protein:decreased expression:blood serum (mouse) RGD PMID:33403844 RGD:126790527 NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IEP RGD PMID:19269041 RGD:2311529 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507 		JBrowse link
G Il4 interleukin 4 treatment ISO
IEP 		RGD PMID:18239607 PMID:1383385 RGD:7829778, RGD:8142395 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549 		JBrowse link
G Il6 interleukin 6 IEP
ISO 		protein:increased expression:oligodendrocytes (rat) RGD PMID:9358769 PMID:23322593 RGD:2307412, RGD:12791289 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Itga4 integrin subunit alpha 4 treatment
susceptibility 		IMP
IDA 		rat bone marrow cells in a mouse model RGD PMID:12626659 PMID:18722022 RGD:9698418, RGD:9698436 NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:84,560,369...84,641,039 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:17947672 RGD:6482235 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		JBrowse link
G Jak3 Janus kinase 3 treatment IDA RGD PMID:25012120 RGD:11533939 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,420,415...18,433,222 		JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:19233483 RGD:5684404 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO RGD PMID:25972476 RGD:12910744 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO protein:increased expression:cerebellum, spinal cord RGD PMID:19299462 RGD:13800552 NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:65,265,639...65,346,196 		JBrowse link
G Lta lymphotoxin alpha IEP mRNA:increased expression:spinal cord
mRNA:increased expression:brain 		RGD PMID:7593556 PMID:9184655 RGD:1625038, RGD:4143220 NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533 		JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:15494405 RGD:1358431 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108 		JBrowse link
G Mbp myelin basic protein ISO human sequence peptide in a rat model; associated with Herpesviridae infections
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:11501064 PMID:15159442 PMID:17884951 PMID:24070732 PMID:16285900 More... RGD:7349334, RGD:30296670 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:78,130,325...78,241,174 		JBrowse link
G Mdk midkine IEP RGD PMID:9814819 RGD:9831448 NCBI chr 3:98,356,789...98,358,960
Ensembl chr 3:98,356,789...98,358,743 		JBrowse link
G Mir146a microRNA 146a ISO mRNA:increased expression:spinal cord (mouse) RGD PMID:22660635 RGD:155663483 NCBI chr10:28,349,996...28,350,090 JBrowse link
G Mir23b microRNA 23b treatment ISO mRNA:decreased expression:spinal cord (mouse) RGD PMID:22660635 PMID:22660635 RGD:155663483, RGD:155663483 NCBI chr17:1,819,386...1,819,482 JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA RGD PMID:19922364 RGD:2325703 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp7 matrix metallopeptidase 7 IEP RGD PMID:9549496 RGD:8547909 NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:13,133,043...13,140,755 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO 		protein:increased expression:multiple tissues RGD PMID:9549496 PMID:24797785 PMID:20810258 PMID:22800566 RGD:8547909, RGD:13204801, RGD:13204762, RGD:8547936 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO RGD PMID:10623862 RGD:27226694 NCBI chr 8:128,747,117...128,777,238
Ensembl chr 8:128,747,232...128,777,936 		JBrowse link
G Mog myelin oligodendrocyte glycoprotein IDA
ISO
IEP 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12904460 PMID:16931536 PMID:17654737 PMID:17728465 PMID:18566399 More... RGD:9685372, RGD:9685375, RGD:9685375, RGD:9685373 NCBI chr20:1,514,110...1,528,716 JBrowse link
G Mt1a metallothionein 1A ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:10,831,959...10,832,975
Ensembl chr17:79,695,809...79,696,200
Ensembl chr  X:79,695,809...79,696,200
Ensembl chr19:79,695,809...79,696,200 		JBrowse link
G Mt2 metallothionein 2 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,837,927...10,838,709 		JBrowse link
G Mt3 metallothionein 3 ISO mRNA:increased expression:brain (mouse) RGD PMID:19619133 RGD:6484112 NCBI chr19:10,854,676...10,856,080
Ensembl chr19:10,854,677...10,856,080 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP protein:decreased expression:hippocampus RGD PMID:17064783 RGD:40924670 NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:58,762,116...59,061,971 		JBrowse link
G Nefl neurofilament light chain IEP protein:increased expression:cerebrospinal fluid, spinal cord RGD PMID:16182933 RGD:2299007 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19910389 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090 		JBrowse link
G Ngf nerve growth factor IEP protein, mRNA:increased expression:thalamus and cortex, CNS RGD PMID:8866783 RGD:5508386 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:192,589,582...192,643,834 		JBrowse link
G Ngfr nerve growth factor receptor severity ISO
IEP 		mRNA:increased expression:central nervous system RGD PMID:16519950 PMID:8866783 RGD:5508312, RGD:5508386 NCBI chr10:81,012,077...81,030,305
Ensembl chr10:81,012,089...81,030,305 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:21857957 RGD:5509069 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO RGD PMID:21266776 RGD:6480877 NCBI chr 1:104,178,483...104,183,863
Ensembl chr 1:104,178,234...104,183,863 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:17322387 RGD:4892331 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP mRNA:increased expression:brain subventricular zone: RGD PMID:15589512 RGD:5684777 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:175,534,844...175,551,787 		JBrowse link
G Olig1 oligodendrocyte transcription factor 1 treatment ISO RGD PMID:24941845 RGD:40902822 NCBI chr11:44,000,450...44,002,592
Ensembl chr11:44,000,281...44,002,592 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 treatment ISO
IEP 		RGD PMID:24941845 PMID:29682587 RGD:40902822, RGD:40902863 NCBI chr11:43,961,585...43,964,961
Ensembl chr11:43,958,940...43,968,634 		JBrowse link
G Pdcd1 programmed cell death 1 susceptibility ISO RGD PMID:24648472 RGD:40818258 NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270 		JBrowse link
G Pdgfb platelet derived growth factor subunit B treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment IDA RGD PMID:16042218 RGD:11080975 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:20303183 RGD:6482686 NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:54,478,603...54,529,509 		JBrowse link
G Plp1 proteolipid protein 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21068375 PMID:24941845 RGD:40902822 NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:104,975,780...104,993,314 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261635 NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:118,712,412...118,780,714 		JBrowse link
G Prf1 perforin 1 ISO RGD PMID:20708278 RGD:6482806 NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124 		JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 severity ISO RGD PMID:19486896 RGD:6484540 NCBI chr 2:55,967,766...56,003,450
Ensembl chr 2:55,967,351...56,003,450 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO
IEP 		protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:microglia, macrophage, 		RGD PMID:21667309 PMID:10229132 RGD:5688149, RGD:5688250 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:39,981,415...40,002,990 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO
IEP 		protein:increased expression:cerebral cortex, cerebellum, spinal cord
protein:increased expression:endothelial cell 		RGD PMID:21667309 PMID:10229132 RGD:5688149, RGD:5688250 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G Ptn pleiotrophin IEP mRNA:increased expression:spinal cord (rat) RGD PMID:9814819 RGD:9831448 NCBI chr 4:66,260,764...66,342,614
Ensembl chr 4:66,260,764...66,342,482 		JBrowse link
G Qki QKI, KH domain containing RNA binding IEP RGD PMID:22740327 RGD:10045997 NCBI chr 1:52,935,357...53,047,338
Ensembl chr 1:52,935,382...53,047,337 		JBrowse link
G Rangrf RAN guanine nucleotide release factor IDA RGD PMID:8557821 RGD:6771380 NCBI chr10:54,176,325...54,177,696
Ensembl chr10:54,176,325...54,177,696 		JBrowse link
G Rhoa ras homolog family member A severity IEP protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302 		JBrowse link
G RT1-Ba RT1 class II, locus Ba IMP
IDA 		RGD PMID:18050272 PMID:9834080 PMID:16723470 RGD:5147622, RGD:5147666, RGD:5147639 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb IMP
IDA
ISO 		RGD PMID:16723470 PMID:9834080 PMID:16194572 RGD:5147639, RGD:5147666, RGD:5147647 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO RGD PMID:8676084 RGD:5490166 NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,513,908...4,520,383 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO RGD PMID:16194572 RGD:5147647 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA,protein:increased expression,increased activity:spinal cord, astrocyte: RGD PMID:11733372 RGD:13208549 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP
ISO 		RGD PMID:15892298 PMID:18991353 RGD:12801423, RGD:12801440 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:61,700,021...61,702,855 		JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,305,476...25,328,000 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor treatment IDA RGD PMID:22436018 RGD:9999395 NCBI chr 3:173,501,573...173,503,822
Ensembl chr 3:173,501,573...173,503,822 		JBrowse link
G Sncb synuclein, beta IDA RGD PMID:12496452 RGD:730073 NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,840,019...9,860,142 		JBrowse link
G Srsf9 serine and arginine rich splicing factor 9 treatment ISO RGD PMID:20616573 RGD:11040805 NCBI chr12:46,938,948...46,945,213
Ensembl chr12:46,938,950...46,945,283 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO RGD PMID:22066025 RGD:6483041 NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22066025 PMID:17878325 RGD:6483041, RGD:6892946 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:11240014 RGD:7207888 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP mRNA, protein:increased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 IEP mRNA, protein:decreased expression:central nervous system RGD PMID:17204936 RGD:2302088 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 IEP protein:increased expression:spinal cord RGD PMID:15878627 RGD:1559178 NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:19,409,631...19,459,547 		JBrowse link
G Tlr2 toll-like receptor 2 treatment IEP protein:increased expression:spinal cord RGD PMID:18644848 PMID:33358978 RGD:2312575, RGD:597538508 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194 		JBrowse link
G Tlr4 toll-like receptor 4 treatment IEP protein:increased expression:spinal cord RGD PMID:18644848 PMID:33358978 RGD:2312575, RGD:597538508 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:11421579 RGD:12904661 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IDA RGD PMID:12196270 RGD:1580348 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801 		JBrowse link
G Vdr vitamin D receptor treatment ISO RGD PMID:21318047 PMID:21287548 RGD:8158064, RGD:13210791 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vegfa vascular endothelial growth factor A IDA
ISO
IEP 		mRNA:decreased expression:Cerebrospinal Fluid:
mRNA,protein:decreased expression:spinal cord: 		RGD PMID:12387457 PMID:17083617 PMID:17083617 RGD:634258, RGD:7421596, RGD:7421596 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:20978211 RGD:5685386 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:44,470,462...44,478,558 		JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr14:84,604,623...84,609,707
Ensembl chr14:84,604,107...84,609,706 		JBrowse link
Hereditary Diffuse Leukoencephalopathy with Spheroids 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS, SWEDISH TYPE | ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2 OMIM
ClinVar		 PMID:6595937 PMID:25741868 PMID:28492532 PMID:31775912 NCBI chr19:55,906,694...55,930,499
Ensembl chr19:55,906,702...55,930,497 		JBrowse link
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360 More... NCBI chr13:95,158,236...95,162,030
Ensembl chr13:95,158,183...95,162,029 		JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 | ClinVar Annotator: match by term: POLR1C-related disorder OMIM
ClinVar		 PMID:610060 PMID:9536098 PMID:11013442 PMID:17576681 PMID:21131976 More... NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:22,233,305...22,237,428 		JBrowse link
G Xpo5 exportin 5 ISO ClinVar Annotator: match by term: POLR1C-related disorder ClinVar NCBI chr 9:22,237,760...22,275,745
Ensembl chr 9:22,237,760...22,275,745 		JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chr 8:53,580,939...53,595,378
Ensembl chr 8:53,580,939...53,595,377 		JBrowse link
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hikeshi heat shock protein nuclear import factor hikeshi ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13 OMIM
ClinVar		 PMID:25741868 PMID:26545878 PMID:28492532 PMID:31912665 PMID:34111619 More... NCBI chr 1:153,237,948...153,261,856
Ensembl chr 1:153,237,948...153,261,911 		JBrowse link
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufm1 ubiquitin-fold modifier 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 | ClinVar Annotator: match by term: UFM1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28931644 PMID:29868776 PMID:32860008 NCBI chr 2:140,119,722...140,127,866
Ensembl chr 2:140,119,725...140,127,866 		JBrowse link
hypomyelinating leukodystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: EPRS1-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29576217 More... NCBI chr13:99,431,955...99,503,510
Ensembl chr13:99,433,130...99,503,509 		JBrowse link
hypomyelinating leukodystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem106b transmembrane protein 106B ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 | ClinVar Annotator: match by term: TMEM106B-related condition OMIM
ClinVar		 PMID:10338095 PMID:10737981 PMID:16941474 PMID:17309651 PMID:25741868 More... NCBI chr 4:42,294,074...42,313,426
Ensembl chr 4:42,294,101...42,313,407 		JBrowse link
hypomyelinating leukodystrophy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 ISO ClinVar Annotator: match by term: AIMP2-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29215095 NCBI chr12:15,814,854...15,824,432
Ensembl chr12:15,814,878...15,824,431 		JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: AIMP2-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:15,824,431...15,858,266
Ensembl chr12:15,825,124...15,858,281 		JBrowse link
hypomyelinating leukodystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Degs1 delta(4)-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: DEGS1-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chr13:96,478,645...96,485,302
Ensembl chr13:96,478,646...96,485,302 		JBrowse link
hypomyelinating leukodystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem63a transmembrane protein 63a ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 19, transient infantile | ClinVar Annotator: match by term: TMEM63A-related condition OMIM
ClinVar		 PMID:25741868 PMID:31587869 PMID:33785861 NCBI chr13:95,194,323...95,227,944
Ensembl chr13:95,195,234...95,228,302 		JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:8900227 PMID:10699052 PMID:11854167 PMID:15505393 PMID:16602100 More... NCBI chr19:40,168,038...40,174,536
Ensembl chr19:40,168,141...40,175,686 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO
ISS 		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 | ClinVar Annotator: match by term: PELIZAEUS-MERZBACHER-LIKE DISEASE, 1
OMIM:608804
DNA:mutations:multiple (human)
DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human)
DNA:missense mutation:cds:p.M282T (mouse)
DNA:snp:5' utr:c.-167A>G (human)
DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2368670 PMID:8733901 PMID:15192806 PMID:16707726 PMID:16969684 More... RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526, RGD:13208525 NCBI chr10:44,462,203...44,470,924
Ensembl chr10:44,462,054...44,470,340 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 ClinVar PMID:15968592 PMID:21073448 PMID:25356970 PMID:25741868 PMID:26467025 More... NCBI chr11:97,082,721...97,113,195
Ensembl chr11:97,082,739...97,113,195 		JBrowse link
hypomyelinating leukodystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: CNP-related condition | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 OMIM
ClinVar		 PMID:25741868 PMID:32128616 NCBI chr10:86,011,504...86,018,063
Ensembl chr10:86,011,495...86,018,063 		JBrowse link
hypomyelinating leukodystrophy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3k RNA polymerase III subunit K ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 OMIM
ClinVar		 PMID:25741868 PMID:30584594 NCBI chr 3:189,360,349...189,364,546
Ensembl chr 3:189,360,171...189,366,697 		JBrowse link
hypomyelinating leukodystrophy 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn11 claudin 11 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22 OMIM
ClinVar		 PMID:25741868 PMID:33313762 NCBI chr 2:114,136,234...114,149,539
Ensembl chr 2:114,136,234...114,149,539 		JBrowse link
hypomyelinating leukodystrophy 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf220 ring finger protein 220 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy OMIM
ClinVar		 PMID:10881263 PMID:25741868 PMID:33964137 PMID:36083980 NCBI chr 5:135,975,739...136,198,017
Ensembl chr 5:135,975,739...136,197,858 		JBrowse link
hypomyelinating leukodystrophy 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 OMIM
ClinVar		 PMID:34403372 NCBI chr16:83,359,884...83,469,807
Ensembl chr16:83,359,884...83,469,767 		JBrowse link
hypomyelinating leukodystrophy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem163 transmembrane protein 163 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25 OMIM
ClinVar		 PMID:25741868 PMID:35455965 PMID:35953447 NCBI chr13:41,520,595...41,693,938
Ensembl chr13:41,520,359...41,693,938 		JBrowse link
hypomyelinating leukodystrophy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia OMIM
ClinVar		 PMID:25741868 PMID:35325049 NCBI chr 9:22,936,031...22,940,114
Ensembl chr 9:22,935,887...22,939,793 		JBrowse link
Hypomyelinating Leukodystrophy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 27 OMIM
ClinVar		 PMID:25741868 NCBI chr 4:105,508,305...105,572,272
Ensembl chr 4:105,508,248...105,574,036 		JBrowse link
Hypomyelinating Leukodystrophy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mal mal, T-cell differentiation protein ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 28 OMIM
ClinVar		 PMID:35217805 NCBI chr 3:135,317,664...135,341,423
Ensembl chr 3:135,317,664...135,341,423 		JBrowse link
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 ISO ClinVar Annotator: match by term: AIMP1-related condition | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3 OMIM
ClinVar		 PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 More... NCBI chr 2:223,825,930...223,849,477
Ensembl chr 2:223,825,931...223,849,994 		JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: HSPD1-related condition | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4
DNA:mutation:exon: g.1512A>G(p.D29G)(human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:18414213 PMID:18571143 PMID:22552817 PMID:24033266 PMID:25326637 More... RGD:12910473 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:64,073,611...64,084,037 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 ClinVar PMID:29389947 NCBI chr16:56,066...95,060
Ensembl chr16:56,066...95,060 		JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca7l cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:144,936,885...144,982,844
Ensembl chr 6:144,908,171...144,982,843 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:144,982,130...145,298,523
Ensembl chr 6:144,973,797...145,298,692 		JBrowse link
G Hycc1 hyccin PI4KA lipid kinase complex subunit 1 ISO ClinVar Annotator: match by term: HYCC1-related condition | ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16951682 PMID:17576681 PMID:17683097 More... NCBI chr 4:12,024,692...12,131,504
Ensembl chr 4:12,024,739...12,131,501 		JBrowse link
G Il6 interleukin 6 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:144,588,162...144,822,908
Ensembl chr 6:144,580,976...144,822,908 		JBrowse link
G Sp4 Sp4 transcription factor ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:145,330,416...145,395,750
Ensembl chr 6:145,330,416...145,395,146 		JBrowse link
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 4:12,197,503...12,204,344
Ensembl chr 4:12,197,491...12,204,343 		JBrowse link
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin, beta 4A class IVa ISO
ISS 		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
OMIM:612438 		OMIM
ClinVar
MouseDO		 PMID:2358646 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 More... NCBI chr 9:2,004,836...2,012,281
Ensembl chr 9:2,004,840...2,012,286 		JBrowse link
hypomyelinating leukodystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 More... NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: 4h syndrome ClinVar PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 More... NCBI chr12:51,448,838...51,481,159
Ensembl chr12:51,449,140...51,480,667 		JBrowse link
G Elmod3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION ClinVar PMID:24039609 PMID:25326637 NCBI chr 4:106,172,819...106,211,286
Ensembl chr 4:106,172,828...106,211,229 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO
ISS 		ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | ClinVar Annotator: match by term: POLR3A-related condition
OMIM:607694
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 More... NCBI chr16:56,066...95,060
Ensembl chr16:56,066...95,060 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome 		CTD
ClinVar		 PMID:16199547 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 More... NCBI chr 7:20,926,866...21,030,133
Ensembl chr 7:20,926,866...21,033,654 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome ClinVar PMID:22855961 PMID:27029625 NCBI chr16:95,429...101,146
Ensembl chr16:96,484...101,144 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome ClinVar PMID:25326637 PMID:25741868 PMID:27104957 PMID:28492532 NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:122,316,520...122,324,003 		JBrowse link
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr16:56,066...95,060
Ensembl chr16:56,066...95,060 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 More... NCBI chr 7:20,926,866...21,030,133
Ensembl chr 7:20,926,866...21,033,654 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:24033266 PMID:25326637 PMID:25741868 PMID:25944730 PMID:28492532 NCBI chr 3:174,659,683...174,671,978
Ensembl chr 3:174,659,656...174,671,978 		JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9 | ClinVar Annotator: match by term: RARS1-related condition OMIM
ClinVar		 PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 More... NCBI chr10:20,774,804...20,799,251
Ensembl chr10:20,774,805...20,799,251 		JBrowse link
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: ASPARTYL-tRNA SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: DARS1-related condition | ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity OMIM
ClinVar		 PMID:23643384 PMID:25527264 PMID:25741868 PMID:27816769 PMID:28492532 NCBI chr13:42,410,351...42,465,467
Ensembl chr13:42,379,162...42,465,467 		JBrowse link
inclusion body myopathy and brain white matter abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 More... NCBI chr16:1,419,627...1,464,590
Ensembl chr16:1,418,351...1,464,839 		JBrowse link
intellectual disability and myopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome OMIM
ClinVar		 PMID:9536098 PMID:15034580 PMID:16199547 PMID:17576681 PMID:23861362 More... NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348 		JBrowse link
Krabbe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Galc galactosylceramidase ISO
ISS 		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
OMIM:245200
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 More... RGD:38599167 NCBI chr 6:123,182,636...123,252,024
Ensembl chr 6:123,182,643...123,245,578 		JBrowse link
G Psap prosaposin ISS
ISO 		OMIM:245200
ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency 		MouseDO
ClinVar		 PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,757,181...28,783,421 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:25741868 NCBI chr 6:123,609,519...123,655,001
Ensembl chr 6:123,609,535...123,655,001 		JBrowse link
Labrune Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar NCBI chr10:54,361,898...54,373,776
Ensembl chr10:54,361,898...54,373,776 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 More... NCBI chr10:53,774,811...53,774,946
Ensembl chr10:54,273,655...54,273,790 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar PMID:25741868 PMID:26595381 PMID:27571260 PMID:28177126 PMID:28492532 More... NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586 		JBrowse link
Leukoencephalopathy with Ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 susceptibility ISO ClinVar Annotator: match by term: Leukoencephalopathy with ataxia ClinVar
OMIM		 PMID:9536098 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 More... NCBI chr11:93,702,382...93,716,059
Ensembl chr11:93,702,360...93,716,059 		JBrowse link
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ClinVar NCBI chr13:75,870,479...75,885,466
Ensembl chr13:75,870,489...75,905,250 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: DARS2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17384640 PMID:17576681 PMID:19592391 More... NCBI chr13:75,842,078...75,870,319
Ensembl chr13:75,836,565...75,869,904 		JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ClinVar PMID:25741868 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
Leukoencephalopathy with Dystonia and Motor Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: SCP2-related condition | ClinVar Annotator: match by term: Sterol carrier protein 2 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16685654 PMID:17576681 PMID:25741868 More... NCBI chr 5:128,035,714...128,110,015
Ensembl chr 5:128,008,125...128,110,043 		JBrowse link
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr12:52,077,863...52,110,775
Ensembl chr12:52,077,480...52,108,708 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr  X:140,182,734...140,302,812
Ensembl chr  X:140,182,734...140,344,458 		JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Vanishing white matter leukodystrophy 		CTD
ClinVar		 PMID:11835386 PMID:15776425 PMID:16199547 PMID:16807905 PMID:18263758 More... NCBI chr12:37,686,149...37,694,830
Ensembl chr12:37,686,559...37,708,078 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Vanishing white matter leukodystrophy
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 More... RGD:734925 NCBI chr 6:110,597,979...110,604,403
Ensembl chr 6:110,597,729...110,604,403 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Vanishing white matter leukodystrophy ClinVar PMID:11835386 PMID:15776425 PMID:16807905 PMID:18263758 PMID:18414213 More... NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:135,728,959...135,799,914 		JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Vanishing white matter leukodystrophy
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy 		CTD
ClinVar
MouseDO		 PMID:11835386 PMID:12707859 PMID:15054402 PMID:15136673 PMID:15507143 More... NCBI chr 6:30,903,148...30,908,803
Ensembl chr 6:30,903,219...30,908,800 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO
ISS 		ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Vanishing white matter leukodystrophy
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14566705 More... RGD:734925 NCBI chr11:93,898,814...93,909,431
Ensembl chr11:93,898,814...93,908,800 		JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr 6:110,612,535...110,649,408
Ensembl chr 6:110,612,535...110,648,999 		JBrowse link
leukoencephalopathy with vanishing white matter 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: EIF2B1-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 OMIM
ClinVar		 PMID:9536098 PMID:11835386 PMID:16199547 PMID:17576681 PMID:18263758 More... NCBI chr12:37,686,149...37,694,830
Ensembl chr12:37,686,559...37,708,078 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 ClinVar PMID:11704758 PMID:12707859 PMID:15054402 PMID:15060152 PMID:15136673 More... NCBI chr 6:110,597,979...110,604,403
Ensembl chr 6:110,597,729...110,604,403 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 ClinVar PMID:16807905 PMID:18263758 PMID:19909266 PMID:25741868 PMID:28492532 More... NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:135,728,959...135,799,914 		JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 ClinVar PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 PMID:16998732 More... NCBI chr 6:30,903,148...30,908,803
Ensembl chr 6:30,903,219...30,908,800 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 ClinVar PMID:11704758 PMID:14993275 PMID:15136673 PMID:15776425 PMID:16864840 More... NCBI chr11:93,898,814...93,909,431
Ensembl chr11:93,898,814...93,908,800 		JBrowse link
leukoencephalopathy with vanishing white matter 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2 OMIM
ClinVar		 PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 More... NCBI chr 6:110,597,979...110,604,403
Ensembl chr 6:110,597,729...110,604,403 		JBrowse link
leukoencephalopathy with vanishing white matter 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: EIF2B3-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 3 OMIM
ClinVar		 PMID:9536098 PMID:11835386 PMID:15776425 PMID:17576681 PMID:18263758 More... NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:135,728,959...135,799,914 		JBrowse link
leukoencephalopathy with vanishing white matter 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: EIF2B4-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4 | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure OMIM
ClinVar		 PMID:11835386 PMID:12707859 PMID:14566705 PMID:15054402 PMID:15136673 More... NCBI chr 6:30,903,148...30,908,803
Ensembl chr 6:30,903,219...30,908,800 		JBrowse link
leukoencephalopathy with vanishing white matter 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:11835386 PMID:16199547 PMID:18263758 PMID:25741868 PMID:26285592 More... NCBI chr12:37,686,149...37,694,830
Ensembl chr12:37,686,559...37,708,078 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta ISO ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:11704758 PMID:12707859 PMID:15054402 PMID:15060152 PMID:15136673 More... NCBI chr 6:110,597,979...110,604,403
Ensembl chr 6:110,597,729...110,604,403 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:16807905 PMID:18263758 PMID:19909266 PMID:25741868 PMID:28492532 More... NCBI chr 5:130,492,167...130,558,692
Ensembl chr 5:135,728,959...135,799,914 		JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 PMID:16998732 More... NCBI chr 6:30,903,148...30,908,803
Ensembl chr 6:30,903,219...30,908,800 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Cree leukoencephalopathy | ClinVar Annotator: match by term: EIF2B5-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5 OMIM
ClinVar		 PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14694060 More... NCBI chr11:93,898,814...93,909,431
Ensembl chr11:93,898,814...93,908,800 		JBrowse link
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO ClinVar Annotator: match by term: EIF2AK2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32197074 PMID:33236446 PMID:33553620 More... NCBI chr 6:21,941,147...21,977,115
Ensembl chr 6:21,952,631...21,977,116 		JBrowse link
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: EIF2AK1-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32197074 NCBI chr12:15,824,431...15,858,266
Ensembl chr12:15,825,124...15,858,281 		JBrowse link
LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Leukoencephalopathy, porphyria-related OMIM
ClinVar		 PMID:1577472 PMID:2243128 PMID:2246851 PMID:2246852 PMID:6985467 More... NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:53,570,364...53,577,802 		JBrowse link
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24824130 More... NCBI chr19:39,957,846...39,976,837
Ensembl chr19:56,867,096...56,886,073 		JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 		CTD
ClinVar
MouseDO		 PMID:21419380 PMID:25741868 PMID:28492532 PMID:36199823 NCBI chr 8:45,276,594...45,294,006
Ensembl chr 8:45,276,683...45,295,548 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 		CTD
ClinVar		 PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12850517 More... NCBI chr 7:121,926,356...121,949,484
Ensembl chr 7:121,926,356...121,946,698 		JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstt2 glutathione S-transferase theta 2 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:25741868 NCBI chr20:12,819,053...12,822,724
Ensembl chr20:12,818,540...12,822,718 		JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE ClinVar PMID:25741868 PMID:28492532 PMID:29389947 PMID:29915382 NCBI chr 8:45,276,594...45,294,006
Ensembl chr 8:45,276,683...45,295,548 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO
ISS 		ClinVar Annotator: match by term: MLC1-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
OMIM:604004 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 More... NCBI chr 7:121,926,356...121,949,484
Ensembl chr 7:121,926,356...121,946,698 		JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: HEPACAM-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A OMIM
ClinVar		 PMID:21419380 PMID:21624973 PMID:22405205 PMID:23793458 PMID:25044933 More... NCBI chr 8:45,276,594...45,294,006
Ensembl chr 8:45,276,683...45,295,548 		JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability OMIM
ClinVar		 PMID:20517947 PMID:21419380 PMID:21624973 PMID:22405205 PMID:23793458 More... NCBI chr 8:45,276,594...45,294,006
Ensembl chr 8:45,276,683...45,295,548 		JBrowse link
Megalencephalic Leukoencephalopathy with Subcortical Cysts 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gprc5b G protein-coupled receptor, class C, group 5, member B ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 3 OMIM
ClinVar		 PMID:37143309 NCBI chr 1:182,748,247...182,772,711
Ensembl chr 1:182,748,247...182,772,757 		JBrowse link
Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting OMIM
ClinVar		 PMID:25741868 PMID:37143309 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
metachromatic leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,272,808...122,274,594
Ensembl chr 7:122,272,808...122,274,594 		JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:121,774,796...121,789,175
Ensembl chr 7:121,768,234...121,788,983 		JBrowse link
G Arsa arylsulfatase A ISO
ISS 		ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE A PSEUDODEFICIENCY | ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile
ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
OMIM:249900 | OMIM:250100
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 More... RGD:1358435, RGD:1358434 NCBI chr 7:122,422,971...122,426,971
Ensembl chr 7:122,422,982...122,428,401 		JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 More... NCBI chr 2:26,736,395...26,895,682
Ensembl chr 2:26,736,957...26,897,611 		JBrowse link
G Brd1 bromodomain containing 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:121,653,859...121,701,700
Ensembl chr 7:121,653,859...121,701,700 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15026521 PMID:15211666 PMID:25344692 More... NCBI chr 7:122,380,592...122,385,102
Ensembl chr 7:122,380,594...122,383,949 		JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,323,860...122,326,921
Ensembl chr 7:122,323,860...122,326,876 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:25741868 PMID:28492532 PMID:34529042 NCBI chr 4:72,138,739...72,168,113
Ensembl chr 4:72,139,162...72,168,128 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,370,974...122,380,473
Ensembl chr 7:122,370,444...122,380,036 		JBrowse link
G Creld2 cysteine-rich with EGF-like domains 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:121,788,754...121,796,230
Ensembl chr 7:121,788,745...121,796,228 		JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,139,159...122,154,720
Ensembl chr 7:122,141,317...122,153,131 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Arylsulfatase A Deficiency ClinVar PMID:8364584 PMID:8471773 PMID:10502785 PMID:11793482 PMID:16329560 More... NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:25741868 NCBI chr10:88,352,987...88,361,661
Ensembl chr10:88,352,986...88,361,685 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Arylsulfatase A Deficiency ClinVar PMID:25741868 NCBI chr  X:156,839,100...156,864,132
Ensembl chr  X:156,839,100...156,863,813 		JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,078,768...122,084,457
Ensembl chr 7:122,078,768...122,083,870 		JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,331,708...122,335,364
Ensembl chr 7:122,331,708...122,335,364 		JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,297,971...122,302,423
Ensembl chr 7:122,297,973...122,302,423 		JBrowse link
G Mal mal, T-cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr 3:135,317,664...135,341,423
Ensembl chr 3:135,317,664...135,341,423 		JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,098,120...122,105,023
Ensembl chr 7:122,098,121...122,105,038 		JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,085,647...122,096,307
Ensembl chr 7:122,085,913...122,096,307 		JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15026521 PMID:15211666 PMID:25344692 More... NCBI chr 7:122,406,350...122,416,602
Ensembl chr 7:122,406,350...122,416,602 		JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,284,660...122,287,158
Ensembl chr 7:122,284,660...122,287,157 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:121,926,356...121,949,484
Ensembl chr 7:121,926,356...121,946,698 		JBrowse link
G Mov10l1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:121,949,743...122,015,042
Ensembl chr 7:121,949,822...122,015,042 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,302,550...122,319,570
Ensembl chr 7:122,300,252...122,319,569 		JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,018,937...122,032,009
Ensembl chr 7:122,018,937...122,032,004 		JBrowse link
G Pim3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:121,822,076...121,836,257
Ensembl chr 7:121,832,742...121,836,259 		JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,111,917...122,138,201
Ensembl chr 7:122,111,917...122,127,746 		JBrowse link
G Ppp6r2 protein phosphatase 6, regulatory subunit 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,164,968...122,236,625
Ensembl chr 7:122,194,723...122,236,621 		JBrowse link
G Psap prosaposin ISS
ISO 		OMIM:249900 | OMIM:250100
ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Sulfatide lipidosis
ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild 		MouseDO
ClinVar		 PMID:1371116 PMID:1689485 PMID:2066109 PMID:3063208 PMID:9536098 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,757,181...28,783,421 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,237,968...122,264,591
Ensembl chr 7:122,237,968...122,264,531 		JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,047,555...122,058,448
Ensembl chr 7:122,047,555...122,058,447 		JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,336,427...122,362,608
Ensembl chr 7:122,336,427...122,344,820 		JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,034,685...122,045,657
Ensembl chr 7:122,038,553...122,045,657 		JBrowse link
G Ttll8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:121,860,192...121,926,344
Ensembl chr 7:121,882,458...121,924,726 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,057,328...122,078,639
Ensembl chr 7:122,057,328...122,078,490 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:122,316,520...122,324,003 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:25741868 NCBI chr 5:146,820,163...146,848,377
Ensembl chr 5:146,819,358...146,848,377 		JBrowse link
G Zbed4 zinc finger, BED-type containing 4 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr 7:121,723,130...121,763,180
Ensembl chr 7:121,716,932...121,769,805 		JBrowse link
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Psap prosaposin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency 		CTD
OMIM
ClinVar		 PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,757,181...28,783,421 		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 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:1677459 RGD:10054257 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:18938189 RGD:10054050 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:18938189 RGD:10054050 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IEP RGD PMID:21279683 RGD:10449132 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Il2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8586980 RGD:10047081 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672 		JBrowse link
Multiple mitochondrial dysfunctions syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: FDX2-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 8 | ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM
ClinVar		 PMID:24281368 PMID:25741868 PMID:28492532 NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:27,881,091...27,886,015 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy ClinVar PMID:15372108 PMID:17152068 PMID:17413873 PMID:18977334 PMID:19458970 More... NCBI chr MT:9,451...9,798
Ensembl chr MT:9,436...9,783 		JBrowse link
multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO RGD PMID:11498265 RGD:1549857 NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:156,569,860...156,619,868 		JBrowse link
G Acan aggrecan ISO protein:altered expression:central nervous system, plaque (human) RGD PMID:11764092 RGD:2315836 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:142,390,951...142,453,779 		JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr12:25,042,882...25,050,608
Ensembl chr12:25,043,461...25,050,410 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20714168 RGD:5686885 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G Ager advanced glycosylation end product-specific receptor susceptibility ISO DNA:polymorphism:cds:p.G82S rs2070600 (human) RGD PMID:21511691 RGD:6767562 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685 		JBrowse link
G Agt angiotensinogen ISO protein:decreased expression:brain,astrocyte: RGD PMID:17715340 RGD:13432361 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Aim2 absent in melanoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr13:88,397,516...88,439,325
Ensembl chr13:88,404,048...88,439,318 		JBrowse link
G Apoa1 apolipoprotein A1 ISO protein:increased expression: serum RGD PMID:20350318 RGD:5508215 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		JBrowse link
G Apoc2 apolipoprotein C2 ISO RGD PMID:10335523 RGD:1358408 NCBI chr 1:88,457,397...88,462,365
Ensembl chr 1:88,457,396...88,463,438 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15048896 PMID:15118671 RGD:1331525 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G B4galt5 beta-1,4-galactosyltransferase 5 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr 3:176,437,073...176,453,001
Ensembl chr 3:176,437,073...176,488,978 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO mRNA:increased expression:white matter RGD PMID:25216636 RGD:14390079 NCBI chr18:12,233,350...12,290,204
Ensembl chr18:12,233,351...12,290,204 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20122907 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:decreased expression:brain: RGD PMID:24270187 RGD:14394512 NCBI chr15:32,326,686...32,337,834
Ensembl chr15:32,326,020...32,335,379 		JBrowse link
G Bdnf brain-derived neurotrophic factor onset ISO protein:decreased expression:serum RGD PMID:20656764 RGD:5684915 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:11353727 RGD:1580151 NCBI chr 3:27,779,133...27,944,292
Ensembl chr 3:27,779,166...27,944,285 		JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:10,746,333...10,882,275 		JBrowse link
G Cav1 caveolin 1 ISO DNA:repeats, haplotypes:multiple RGD PMID:19828204 RGD:8661778 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740 		JBrowse link
G Cblb Cbl proto-oncogene B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453840 NCBI chr11:62,058,829...62,225,904
Ensembl chr11:62,061,653...62,225,778 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) RGD PMID:19865101 RGD:4145472 NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,625,962...67,628,790 		JBrowse link
G Ccl12 C-C motif chemokine ligand 12 ISO DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human) RGD PMID:19865101 RGD:4145472 NCBI chr10:67,567,876...67,569,426
Ensembl chr10:67,567,876...67,569,426 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO DNA:SNPs, haplotype RGD PMID:19865101 RGD:4145472 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:brain, frontal cortex (human) RGD PMID:11091283 RGD:4890028 NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO mRNA,protein:increased expression:brain
DNA:polymorphism:promoter 		RGD PMID:9655469 PMID:12127674 RGD:6483814, RGD:6483818 NCBI chr10:67,514,095...67,515,945
Ensembl chr10:67,514,091...67,515,947 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21427490 RGD:6892919 NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:132,463,788...132,511,593 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO DNA:frameshift mutation:CDS:p.S185_T195del (rs333) (human)
ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression
protein:increased expression:blood, cerebrospinal fluid 		ClinVar
RGD		 PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 More... RGD:1358460, RGD:8551829 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594 		JBrowse link
G Cd109 CD109 molecule ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar NCBI chr 8:88,334,736...88,449,463
Ensembl chr 8:88,334,736...88,449,462 		JBrowse link
G Cd24 CD24 molecule ISO RGD PMID:14657362 RGD:1358462 NCBI chr20:48,655,549...48,661,786
Ensembl chr20:48,655,805...48,661,785 		JBrowse link
G Cd28 Cd28 molecule ISO DNA:SNP:promoter:-372G>A (human) RGD PMID:14975605 RGD:1358478 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192 		JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human) 		CTD
RGD		 PMID:19525955 PMID:20634952 PMID:20190274 RGD:5490971, RGD:5490975 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:109,612,054...109,699,424 		JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21177319 RGD:6483460 NCBI chr13:109,104,122...109,134,903 JBrowse link
G Cd6 Cd6 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 PMID:24076602 NCBI chr 1:216,867,767...216,906,642
Ensembl chr 1:216,867,771...216,879,432 		JBrowse link
G Cd86 CD86 molecule susceptibility ISO DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) RGD PMID:26531698 RGD:11354964 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361 		JBrowse link
G Cd96 CD96 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:68,164,926...68,239,266
Ensembl chr11:68,164,872...68,241,937 		JBrowse link
G Cdk17 cyclin-dependent kinase 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 7:29,570,982...29,677,613
Ensembl chr 7:29,570,816...29,652,008 		JBrowse link
G Cfh complement factor H no_association ISO RGD PMID:21618592 RGD:5684555 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator susceptibility
no_association 		ISO DNA:polymorphism:exon:c.1632G>C, rs4774 (human)
DNA:polymorphism:promoter:-168A>G (human)
DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human) 		RGD PMID:21653641 PMID:15821736 PMID:16426246 RGD:5491175, RGD:1358146, RGD:5491189 NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,647,085...5,694,342 		JBrowse link
G Cldn11 claudin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25911099 NCBI chr 2:114,136,234...114,149,539
Ensembl chr 2:114,136,234...114,149,539 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:g.194570G>A, rs7184083 (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:18946483 PMID:19525955 PMID:21653641 RGD:5491175 NCBI chr10:5,434,725...5,631,246
Ensembl chr10:5,434,725...5,630,619 		JBrowse link
G Cmah cytidine monophospho-N-acetylneuraminic acid hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:40,985,129...41,070,317
Ensembl chr17:41,011,641...41,070,252 		JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO mRNA:altered expression:PMN cell (human) RGD PMID:20136355 RGD:5133255 NCBI chr 6:48,802,150...48,813,652
Ensembl chr 6:48,802,321...48,813,652 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:19473295 PMID:18676363 RGD:6483339, RGD:6483346 NCBI chr10:86,011,504...86,018,063
Ensembl chr10:86,011,495...86,018,063 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:12876144 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:53,204,260...53,239,252 		JBrowse link
G Cntf ciliary neurotrophic factor onset ISO RGD PMID:11890844 RGD:1626112 NCBI chr 1:219,312,512...219,314,535
Ensembl chr 1:219,312,512...219,314,488 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO mRNA:increased expression:brain RGD PMID:20456365 RGD:5688302 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Cst3 cystatin C ISO protein:decreased expression:cerebrospinal fluid RGD PMID:17086443 PMID:12589965 RGD:5686392, RGD:5686394 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:156,790,079...156,793,937 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 no_association ISO DNA:SNP:CDS:49A>G (human)
DNA:SNPs: :rs3087243,rs11571302(human) 		RGD PMID:17942509 PMID:19740340 PMID:10082437 RGD:2301975, RGD:7411672, RGD:1358538 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:cerebrospinal fluid RGD PMID:17086443 PMID:11134381 RGD:5686392, RGD:5686395 NCBI chr15:41,565,607...41,586,479
Ensembl chr15:41,565,611...41,586,478 		JBrowse link
G Ctsh cathepsin H ISO RGD PMID:17086443 RGD:5686392 NCBI chr 8:99,488,756...99,507,639
Ensembl chr 8:99,488,874...99,509,181 		JBrowse link
G Ctsl cathepsin L ISO RGD PMID:17086443 RGD:5686392 NCBI chr17:770,104...776,266
Ensembl chr17:770,093...777,113 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: DISSEMINATED SCLEROSIS | ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar PMID:9837822 PMID:20926527 PMID:25741868 PMID:28492532 NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570 		JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:100,033,843...100,134,979
Ensembl chr 7:100,034,202...100,135,179 		JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:25790160 PMID:28492532 NCBI chr 9:43,631,716...44,025,535
Ensembl chr 9:43,631,517...44,025,533 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:100,920,249...100,921,624
Ensembl chr 9:100,920,249...100,921,624 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:12646761 RGD:8661710 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,830,428...91,920,791 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO protein:increased expression:white matter of brain:
DNA:polymorphism:promoter:-670A>G (human) 		RGD PMID:8879222 PMID:12098516 RGD:12903947, RGD:12903986 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Faslg Fas ligand ISO DNA:repeat:promoter:g.-46(CA)11-15 (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:31068361 PMID:11438180 RGD:1358622 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Fcgr2a Fc gamma receptor 2A no_association ISO DNA:polymorphism: :p.H131R (human) RGD PMID:12864991 RGD:5147977 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Fcgr3a Fc gamma receptor 3A disease_progression ISO protein:increased expression:gamma-delta T cell RGD PMID:18155780 RGD:5508375 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		JBrowse link
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 ISO DNA:repeat::(CA)11-16 (human) RGD PMID:9561979 RGD:1358628 NCBI chr  X:155,301,979...155,543,870
Ensembl chr  X:155,303,928...155,543,863 		JBrowse link
G Gc GC, vitamin D binding protein susceptibility
no_association 		ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebrospinal fluid
protein:increased expression:plasma:
DNA:SNPs:exon:p.T420K, D416E(human) 		CTD
RGD		 PMID:25590278 PMID:12137326 PMID:18807170 PMID:19324981 PMID:12044990 RGD:5509885, RGD:5509923, RGD:5509922, RGD:5509887 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,916,246...18,951,673 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:18991353 RGD:12801440 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:65,042,237...65,054,540 		JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO protein:increased expression:astrocyte, microglia, macrophage RGD PMID:15589052 RGD:6771187 NCBI chr 4:56,771,247...57,696,951
Ensembl chr 4:56,770,771...57,687,639 		JBrowse link
G Grn granulin precursor ISO protein:increased expression:macrophage, microglia RGD PMID:21613335 RGD:5509591 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,886,122...87,893,936 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 disease_progression
susceptibility
onset 		ISO DNA:deletion: :
DNA:deletion: : (human)
DNA:deletion:: (human) 		RGD PMID:10680782 PMID:17437619 PMID:23932298 RGD:5490267, RGD:12792249, RGD:12792225 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 2:198,295,442...198,300,742
Ensembl chr 2:198,295,442...198,300,667 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 disease_progression ISO DNA:polymorphism:exon: RGD PMID:10680782 RGD:5490267 NCBI chr 2:198,219,769...198,222,732
Ensembl chr 2:198,219,647...198,222,731 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 disease_progression ISO DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:10680782 RGD:5490267 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 no_association ISO DNA:deletion:: (human) RGD PMID:23932298 PMID:10680782 RGD:12792225, RGD:5490267 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:SNP:exon: rs17368528 (human) RGD PMID:19935835 RGD:6784513 NCBI chr 5:165,717,456...165,753,158
Ensembl chr 5:165,721,654...165,753,125 		JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:cytoplasm: RGD PMID:20037577 RGD:9590131 NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:147,138,156...147,165,387 		JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 ISO RGD PMID:14688203 RGD:5686803 NCBI chr 9:22,930,249...22,935,929
Ensembl chr 9:22,931,070...22,935,926 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression: cerebrospinal fluid RGD PMID:16303141 RGD:6480236 NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:50,080,199...50,084,372 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Ifnb1 interferon beta 1 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:10520943 PMID:12424511 PMID:12432978 PMID:23517930 PMID:27806875 More... RGD:401854232 NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487 		JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:repeat:intron: (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:23517930 PMID:9818947 RGD:1358738 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO protein:increased expression:macrophage RGD PMID:10417663 RGD:5510017 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23517930 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:155,275,625...155,282,997 		JBrowse link
G Il13 interleukin 13 severity ISO protein:increased expression:serum
protein:increased expression:cerebrospinal fluid 		RGD PMID:22031307 PMID:21677024 RGD:5684368, RGD:8549589 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:23517930 PMID:21455110 RGD:8698672 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331 		JBrowse link
G Il1b interleukin 1 beta severity ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:15210533 PMID:25458313 PMID:10025794 RGD:1358741 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il21r interleukin 21 receptor ISO DNA:polymorphisms: : RGD PMID:20072140 PMID:21281812 RGD:6892695, RGD:6892963 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:189,598,558...189,626,342 		JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human)
DNA:SNPs: :rs2201841,rs10889677,s7517847(human) 		RGD PMID:18368064 PMID:24547735 RGD:8549631, RGD:8549632 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:97,909,972...98,004,110 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO DNA:SNPs: :multiple
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17660530 PMID:19119414 PMID:19525955 PMID:24076602 PMID:19125193 RGD:2311526 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507 		JBrowse link
G Il4 interleukin 4 onset ISO DNA:repeat:intron 3:allele B1 (human) RGD PMID:9184650 RGD:1358745 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549 		JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:14712310 RGD:4890395 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636 		JBrowse link
G Il6 interleukin 6 severity
treatment 		ISO DNA:polymorphism:promoter:-572 G>C(human)
DNA:polymorphism:promoter:-174G>C(human) 		RGD PMID:23202972 PMID:24155968 PMID:26285213 RGD:12791288, RGD:12792202, RGD:11079567 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17660816 NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:96,142,092...96,187,389 		JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 3 		CTD
ClinVar		 PMID:17660530 PMID:17660816 PMID:17660817 PMID:19525955 PMID:21664875 More... NCBI chr 2:60,179,561...60,204,937
Ensembl chr 2:60,181,382...60,211,027 		JBrowse link
G Irf5 interferon regulatory factor 5 susceptibility ISO DNA:SNPs: :rs3807306, rs4728142 (human) RGD PMID:25392335 PMID:20861862 RGD:11055911, RGD:40924643 NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525953 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:65,699,284...65,721,062 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:28492532 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,705,587...101,741,932 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:26467025 PMID:27001614 PMID:28008999 PMID:28492532 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:142,743,334...143,066,504 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 disease_progression ISO RGD PMID:20805994 PMID:16934875 RGD:6482233, RGD:6482240 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:19,983,217...20,163,598
Ensembl chr17:19,983,217...20,161,970 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24070676 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:87,334,216...87,368,678 		JBrowse link
G Kif1b kinesin family member 1B no_association
susceptibility 		ISO CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.1590+932T>C (rs10492972) (human) 		CTD
RGD		 PMID:18997785 PMID:20502484 PMID:18997785 RGD:12738463, RGD:12738462 NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:164,894,763...165,008,841 		JBrowse link
G Kif5a kinesin family member 5A susceptibility ISO DNA:snp:intron:c.1717-152C>G (rs1678542) (human) RGD PMID:20508602 RGD:12793067 NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:64,934,740...64,978,272 		JBrowse link
G Klhl6 kelch-like family member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr11:94,475,262...94,514,653
Ensembl chr11:94,475,262...94,514,623 		JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:11802715 RGD:2314867 NCBI chr 1:103,415,411...103,422,682
Ensembl chr 1:103,416,886...103,422,690 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:28492532 NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:187,647,904...187,696,173 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:53,563,073...53,630,760 		JBrowse link
G Lrch1 leucine rich repeats and calponin homology domain containing 1 ISS OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 MouseDO NCBI chr15:56,469,403...56,659,201
Ensembl chr15:56,481,395...56,659,100 		JBrowse link
G Lrrc8c leucine rich repeat containing 8 VRAC subunit C ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr14:4,528,721...4,621,259
Ensembl chr14:4,531,823...4,620,049 		JBrowse link
G Mag myelin-associated glycoprotein ISO RGD PMID:2419505 RGD:9685292 NCBI chr 1:95,275,728...95,291,133
Ensembl chr 1:95,275,635...95,291,060 		JBrowse link
G Mbp myelin basic protein ISO RGD PMID:1691612 RGD:1358488 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:78,130,325...78,241,174 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 8:53,376,225...53,384,407
Ensembl chr 8:53,376,197...53,384,406 		JBrowse link
G Mmp12 matrix metallopeptidase 12 susceptibility ISO DNA:SNP:promoter:-82A>G (human) RGD PMID:19628284 RGD:13204795 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:12,866,641...12,884,478 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association
susceptibility 		ISO mRNA:increased expression:blood, mononuclear cell
DNA:SNP, repeat:promoter:-1562C>T (human)
DNA:repeat, SNP:promoter
DNA:SNP:promoter:-1562C>T (human) 		RGD PMID:23401127 PMID:20471697 PMID:10713364 PMID:19628284 RGD:13204754, RGD:13204848, RGD:13204826, RGD:13204795 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO RGD PMID:17142321 RGD:9685374 NCBI chr20:1,514,110...1,528,716 JBrowse link
G Mphosph9 M-phase phosphoprotein 9 susceptibility ISO DNA:snp:intron:122222678G>T rs1790100 (human) RGD PMID:19879194 RGD:2316985 NCBI chr12:37,936,442...38,007,053
Ensembl chr12:37,936,885...38,003,348 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:transition:cds:m.9055A>G (human)
DNA:point mutations: :m.8697G>A, m.8684C>T, m.8856G>A (human) 		RGD PMID:18708297 PMID:17619138 RGD:5490259, RGD:5490263 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO DNA:point mutation: :m.8406C>T (human) RGD PMID:17619138 RGD:5490263 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,743...7,946 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:amplification:cds:cerebral gray matter (human) RGD PMID:18566918 RGD:5490252 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:SNP::m.4917A>G (human) RGD PMID:18708297 RGD:5490259 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,892...4,929 		JBrowse link
G Nabp1 nucleic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 9:57,570,326...57,625,926
Ensembl chr 9:57,618,505...57,626,052 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO RGD PMID:18682780 RGD:6482255 NCBI chr13:86,186,867...86,203,914
Ensembl chr13:86,186,870...86,203,608 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 severity
no_association 		ISO DNA:polymorphism:intron:c.89-104C>T (rs394221) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple 		CTD
RGD		 PMID:16738668 PMID:16738668 PMID:17376543 RGD:6767558, RGD:6767565 NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:88,500,087...88,535,305 		JBrowse link
G Nedd9 neural precursor cell expressed, developmentally down-regulated 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr17:23,495,531...23,673,780
Ensembl chr17:23,495,492...23,675,668 		JBrowse link
G Nefh neurofilament heavy chain severity ISO RGD PMID:16764346 RGD:27226808 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417 		JBrowse link
G Nefl neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human)
protein:increased expression:serum (human) 		RGD PMID:31383792 PMID:33317883 RGD:127284875, RGD:127285024 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:increased expression:reactive astrocytes, microglia/macrophages (human) RGD PMID:11829348 RGD:5508481 NCBI chr10:81,012,077...81,030,305
Ensembl chr10:81,012,089...81,030,305 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25458313 NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,828,014...44,853,394 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO mRNA:altered expression:peripheral blood mononuclear cell (human) RGD PMID:29100048 RGD:156420155 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:70,593,888...70,611,979 		JBrowse link
G Notch4 notch receptor 4 ISO DNA: snps: cds: rs422951 RGD PMID:21654846 RGD:6480692 NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,161,730...4,189,072 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:27253448 NCBI chr 3:97,614,616...97,632,053
Ensembl chr 3:97,614,616...97,624,532 		JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728465 NCBI chr12:39,550,531...39,594,984
Ensembl chr12:39,540,567...39,595,193 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: PDCD1-related condition ClinVar PMID:25741868 NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270 		JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO DNA: snp: : rs1015340 RGD PMID:20546594 RGD:6483093 NCBI chr 1:9,411,412...9,680,648
Ensembl chr 1:9,418,085...9,680,583 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO protein:increased expression:plasma RGD PMID:22246459 RGD:6482783 NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:24,859,502...24,901,747 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Multiple sclerosis ClinVar PMID:25741868 PMID:26467025 PMID:27392081 PMID:28492532 PMID:29590070 NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:109,768,447...109,828,089 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase ISO DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) RGD PMID:11958827 RGD:1358561 NCBI chr10:83,881,211...83,882,849
Ensembl chr10:83,881,185...83,882,849 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds: RGD PMID:20837861 RGD:8694283 NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:2843795 PMID:9664777 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Prf1 perforin 1 ISO
ISS 		OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810
DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human)
protein:increased expression:blood, T cell 		MouseDO
RGD		 PMID:19680139 PMID:20921521 PMID:22001684 RGD:6482805, RGD:6482820, RGD:6482817 NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO protein:increased expression:white matter,astrocyte: RGD PMID:19716418 RGD:10412736 NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:51,210,330...52,430,304 		JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:20174631 RGD:6483446 NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,668,739...4,674,421 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA:missense mutation: :R620W (rs2476601) (human) RGD PMID:15934099 RGD:6484550 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209 		JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO DNA:snp:exon:c.77C>G (human) RGD PMID:11101853 RGD:1358566 NCBI chr13:52,147,717...52,259,810
Ensembl chr13:52,147,717...52,259,746 		JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:25853421 NCBI chr14:61,551,366...61,736,220
Ensembl chr14:61,551,366...61,736,307 		JBrowse link
G Rgma repulsive guidance molecule BMP co-receptor a ISO DNA:SNPs:intron: (rs997941, rs34925346) (human) RGD PMID:20072140 RGD:6892695 NCBI chr 1:136,538,782...136,582,763
Ensembl chr 1:136,538,759...136,582,763 		JBrowse link
G Rhoa ras homolog family member A ISO protein:increased expression:microglial cell, brain RGD PMID:17983427 RGD:2298887 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302 		JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 7:69,310,947...69,350,567
Ensembl chr 7:69,310,947...69,350,225 		JBrowse link
G Rnf217 ring finger protein 217 ISO ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to ClinVar NCBI chr 1:27,835,741...27,927,805
Ensembl chr 1:27,835,148...27,928,044 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism (human) RGD PMID:21741664 RGD:5147555 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-DQB1*06 (human) 		OMIM
CTD
RGD		 PMID:21741664 PMID:21908482 PMID:20463743 RGD:5147555, RGD:7421588, RGD:5147658 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter (human) 		CTD
RGD		 PMID:17660530 PMID:19834503 PMID:10527398 RGD:5490202, RGD:5490204 NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,513,908...4,520,383 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility
onset 		ISO DNA:polymorphism: :HLA-DRB*1501 (human)
ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple (human)
DNA:polymorphism: :HLA-DRB1*0801 (human)
DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*15 (human) 		ClinVar
OMIM
CTD
RGD		 PMID:25741868 PMID:25911099 PMID:21741664 PMID:20207784 PMID:20580995 More... RGD:5147555, RGD:5147580, RGD:5147573, RGD:5147564, RGD:5147559 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :HLA-DPB1*02, HLA-DPB1*03, HLA-DPB1*04 (human) 		CTD
RGD		 PMID:17956852 PMID:32560041 RGD:150429806 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,776,547...4,781,574 		JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr13:78,935,997...78,945,905
Ensembl chr13:78,936,036...78,945,903 		JBrowse link
G Sh2d2a SH2 domain containing 2A susceptibility ISO DNA:repeat:promoter:-341(GA)13-33 (human)
DNA:polymorphism:promoter 		RGD PMID:18554728 PMID:11528519 RGD:2298871, RGD:1358573 NCBI chr 2:175,610,127...175,616,685
Ensembl chr 2:175,609,874...175,616,685 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:18991353 RGD:12801440 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 no_association ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human) 		CTD
RGD		 PMID:16597321 PMID:18973068 PMID:15584484 RGD:5684937, RGD:5684960 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:83,406,427...83,417,238 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO RGD PMID:26290228 RGD:597538585 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:119,454,541...119,496,350 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO DNA, protein:SNPs, haplotypes, increased expression:multiple, serum RGD PMID:11721059 PMID:15885319 RGD:1581329, RGD:1581472 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Sys1 Sys1 golgi trafficking protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:173,610,332...173,637,624
Ensembl chr 3:173,610,710...173,614,814 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility
no_association 		ISO DNA:synonymous mutation: :
DNA:SNPs:CDs:p.V379I, A565T(human) 		RGD PMID:7759306 PMID:7797617 PMID:7928442 RGD:6482279, RGD:6482281, RGD:6482280 NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,638,257...4,651,537 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:cerebrospinal fluid, mononuclear cell RGD PMID:18644848 RGD:2312575 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
G Tnf tumor necrosis factor disease_progression
no_association 		ISO
ISS 		OMIM:612594 | OMIM:612595 | OMIM:612596
DNA:SNP:promoter:-308G>A (human) 		MouseDO
RGD		 PMID:8964914 PMID:9270614 PMID:8887999 RGD:7401237, RGD:12904657, RGD:12904068 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A susceptibility ISO DNA:SNP:intron: (rs1800693) (human)
ClinVar Annotator: match by term: Multiple sclerosis | ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 | ClinVar Annotator: match by term: TNFRSF1A-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD
RGD		 PMID:9585614 PMID:10199409 PMID:11443543 PMID:13130484 PMID:15312137 More... RGD:8661741 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816 		JBrowse link
G Tnfsf14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24076602 NCBI chr 9:2,155,270...2,160,100
Ensembl chr 9:2,155,270...2,160,191 		JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO protein:increased expression:plasma, monocyte (human) RGD PMID:16970683 RGD:2317352 NCBI chr 9:2,031,011...2,033,345
Ensembl chr 9:2,030,953...2,033,339 		JBrowse link
G Traf1 TNF receptor-associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 3:38,607,707...38,639,641
Ensembl chr 3:38,619,506...38,636,264 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19525955 NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:27,916,496...27,943,278 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20175758 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801 		JBrowse link
G Vdr vitamin D receptor no_association
susceptibility 		ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :rs731236,rs7975232(human)
DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human)
DNA:silent mutation, haplotype:cds: (rs731236) (human) 		CTD
RGD		 PMID:25853421 PMID:15118671 PMID:27049563 PMID:25685788 PMID:26540116 More... RGD:1331525, RGD:11530654, RGD:13210790, RGD:11353119, RGD:5147559 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30661753 NCBI chr14:84,604,623...84,609,707
Ensembl chr14:84,604,107...84,609,706 		JBrowse link
G Zfp267 zinc finger protein 267 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31068361 NCBI chr 2:120,945,434...120,964,039
Ensembl chr 2:120,945,434...120,964,032 		JBrowse link
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab11b RAB11B, member RAS oncogene family ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | ClinVar Annotator: match by term: RAB11B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29106825 NCBI chr 7:15,223,613...15,236,754
Ensembl chr 7:15,223,534...15,236,756 		JBrowse link
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: NACC1-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OMIM
ClinVar		 PMID:25741868 PMID:28132692 PMID:28492532 PMID:39825153 NCBI chr19:40,373,436...40,391,351
Ensembl chr19:40,373,449...40,391,347 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: MTHFS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30031689 PMID:31844630 PMID:35599849 NCBI chr 8:98,609,410...98,681,901
Ensembl chr 8:98,609,399...98,752,036 		JBrowse link
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities ClinVar PMID:9084927 PMID:9536098 PMID:15571623 PMID:16199547 PMID:17576681 More... NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM
ClinVar		 PMID:9084927 PMID:9973289 PMID:15571623 PMID:25741868 PMID:32707086 More... NCBI chr 5:135,523,258...135,524,864
Ensembl chr 5:135,523,262...135,535,704 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy ClinVar
OMIM		 PMID:25741868 PMID:29648665 PMID:35759269 NCBI chr 9:20,989,554...21,009,541
Ensembl chr 9:20,989,465...21,009,983 		JBrowse link
neuromyelitis optica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 sexual_dimorphism
disease_progression 		ISO CTD Direct Evidence: marker/mechanism
associated withHiccup;
DNA:polymorphism:promoter:-1003A>G(human) 		CTD
RGD		 PMID:18509235 PMID:24070676 PMID:16087714 PMID:24425068 PMID:26287559 More... RGD:5148024, RGD:598092477, RGD:597830176, RGD:8696034, RGD:8696033, RGD:8696032, RGD:8696026, RGD:8695993, RGD:5148032 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask severity IMP RGD PMID:28212662 RGD:13792592
G Cd59b CD59b molecule severity IMP RGD PMID:28212662 RGD:13792592 NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:110,914,091...110,935,310 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr10:88,352,987...88,361,661
Ensembl chr10:88,352,986...88,361,685 		JBrowse link
G Il21 interleukin 21 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:23041403 RGD:127285589 NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142 		JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Mbp myelin basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18509235 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:78,130,325...78,241,174 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:21621856 RGD:8547883 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO associated with acute disseminated encephalomyelitis RGD PMID:24425068 RGD:598092477 NCBI chr20:1,514,110...1,528,716 JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:serum: RGD PMID:23316360 RGD:27226805 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:serum (human) RGD PMID:33317883 RGD:127285024 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0402 (human)
DNA:polymorphism:: HLA-DQB1*02:02 (human) 		RGD PMID:21908482 PMID:27049564 RGD:7421588, RGD:11530523 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human) 		RGD PMID:21748712 PMID:27049564 RGD:5147590, RGD:11530523 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21371524 RGD:5508767 NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081 		JBrowse link
Opticospinal Multiple Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:17468440 RGD:8698645 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:104,010,639...104,012,143
Ensembl chr  X:104,010,371...104,011,236 		JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:104,064,896...104,066,425
Ensembl chr  X:104,064,515...104,075,906 		JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:105,241,568...105,246,733 JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:105,176,504...105,212,207
Ensembl chr  X:105,176,504...105,212,207 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:15192806 PMID:25741868 PMID:28492532 PMID:31319225 NCBI chr10:44,462,203...44,470,924
Ensembl chr10:44,462,054...44,470,340 		JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:105,547,403...107,080,369
Ensembl chr  X:105,754,490...107,065,223 		JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:104,874,850...104,885,946
Ensembl chr  X:104,852,693...104,892,855 		JBrowse link
G Plp1 proteolipid protein 1 ISO
ISS 		ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild
OMIM:312080
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A246T (human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1047279 PMID:1376553 PMID:1376966 PMID:1384324 PMID:1605230 More... RGD:1358783, RGD:1358559 NCBI chr  X:104,933,921...104,993,317
Ensembl chr  X:104,975,780...104,993,314 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild ClinVar PMID:1047279 PMID:1376553 PMID:1376966 PMID:1384324 PMID:1605230 More... NCBI chr  X:105,013,178...105,023,872
Ensembl chr  X:105,013,104...105,034,319 		JBrowse link
G Slc25a53 solute carrier family 25, member 53 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:105,099,191...105,111,936
Ensembl chr  X:105,099,112...105,113,009 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:104,850,775...104,852,724
Ensembl chr  X:104,850,136...104,853,085 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:104,802,966...104,804,926
Ensembl chr  X:104,802,806...104,805,331 		JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,996,047...103,998,937
Ensembl chr  X:103,995,609...103,999,266 		JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:104,020,016...104,022,176
Ensembl chr  X:104,011,409...104,022,176 		JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,962,930...103,965,000
Ensembl chr  X:103,961,187...103,965,394 		JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:104,037,274...104,039,345
Ensembl chr  X:104,032,421...104,041,562 		JBrowse link
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE | ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant ClinVar
OMIM		 PMID:906807 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 More... NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant ClinVar PMID:25741868 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
Posterior Leukoencephalopathy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29483653 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
primary progressive multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO DNA:SNPs:intron: A>G, C>G (human) RGD PMID:15913795 RGD:6771190 NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,685,876...29,762,682 		JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:20122907 RGD:5687690 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
G Cd274 CD274 molecule severity ISO RGD PMID:21494618 RGD:6893669 NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951 		JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid: RGD PMID:20093204 RGD:5509869 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,916,246...18,951,673 		JBrowse link
G Grn granulin precursor susceptibility ISO protein:increased expression:cerebrospinal fluids
DNA:SNPs: :rs2879096, rs4792938(human) 		RGD PMID:21613335 PMID:20463744 RGD:5509591, RGD:5509596 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,886,122...87,893,936 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:136,253,278...136,260,085 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 disease_progression ISO RGD PMID:15732261 RGD:1626118 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944 		JBrowse link
G Il4r interleukin 4 receptor ISO DNA:missense mutation:cds:p.Q551R (human) RGD PMID:11164908 RGD:1358313 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:14504963 RGD:13204808 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Primary progressive multiple sclerosis ClinVar PMID:2504279 PMID:16401742 PMID:21880868 PMID:25741868 PMID:26467025 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism: :HLA-DQB1*0602 (human) RGD PMID:19616314 RGD:5147610 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms, haplotype: :HLA-DR2, HLA-DRB1*1501 (human) RGD PMID:19616314 RGD:5147610 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:12926841 RGD:12801414 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
progressive leukoencephalopathy with ovarian failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: AARS2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure OMIM
ClinVar		 PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 9:22,981,880...22,993,536
Ensembl chr 9:22,794,978...22,993,536 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure ClinVar PMID:25741868 NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:22,233,305...22,237,428 		JBrowse link
progressive multifocal leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light chain ISO associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human) RGD PMID:33903203 PMID:30761586 RGD:127284888, RGD:127285025 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
Pseudoarylsulfatase A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: PSEUDOARYLSULFATASE A DEFICIENCY ClinVar PMID:8101038 PMID:15326627 PMID:15720392 PMID:24001781 PMID:25741868 More... NCBI chr 7:122,422,971...122,426,971
Ensembl chr 7:122,422,982...122,428,401 		JBrowse link
relapsing-remitting multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34624384 NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:98,246,605...98,260,214 		JBrowse link
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO DNA:SNP:intron: C>T (human) RGD PMID:15913795 RGD:6771190 NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,685,876...29,762,682 		JBrowse link
G Apoa4 apolipoprotein A4 onset ISO protein:decreased expression:cerebrospinal fluid (human) RGD PMID:19383442 RGD:5685649 NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:55,434,168...55,438,164 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:15096402 PMID:34624384 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:20855355 RGD:6893496 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd80 Cd80 molecule ISO protein:increased expression:blood, B cell RGD PMID:21310664 RGD:6893670 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:75,760,147...75,797,540 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:10976643 RGD:5686865 NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:66,160,942...66,200,806 		JBrowse link
G Ctss cathepsin S ISO mRNA, protein:increased expression:blood, leukocyte RGD PMID:21143385 RGD:5687146 NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:185,775,296...185,803,440 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphism:intron:735T>C(human) RGD PMID:15218339 RGD:12903953 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Grn granulin precursor disease_progression ISO protein:increased expression:cerebrospinal fluids RGD PMID:21613335 RGD:5509591 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,886,122...87,893,936 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:15153541 RGD:5128853 NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,619,897...31,653,268 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis ClinVar NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:136,253,278...136,260,085 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:21824468 RGD:5688780 NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:50,080,199...50,084,372 		JBrowse link
G Klc1 kinesin light chain 1 susceptibility ISO DNA:SNP:intron:56836G>C (rs8702) (human) RGD PMID:17999208 RGD:5684008 NCBI chr 6:136,644,592...136,690,399
Ensembl chr 6:136,644,307...136,689,760 		JBrowse link
G Mmp19 matrix metallopeptidase 19 ISO mRNA:increased expression:mononuclear cell RGD PMID:11438176 RGD:1642025 NCBI chr 7:1,805,732...1,814,054
Ensembl chr 7:1,805,860...1,814,863 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Nefh neurofilament heavy chain treatment ISO RGD PMID:15222692 RGD:27226879 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417 		JBrowse link
G Nefl neurofilament light chain ISO associated with relapse;protein:increased expression:serum (human)
protein:increased expression:CSF (human) 		RGD PMID:30761586 PMID:33658322 RGD:127285025, RGD:127285027 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 disease_progression ISO DNA:SNPs: :rs3135499,rs2066842(human) RGD PMID:20595247 RGD:13204725 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:34,555,832...34,722,846 		JBrowse link
G Nog noggin ISO mRNA,protein:decreased expression:mononuclear cell" RGD PMID:21111488 RGD:12801480 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:brain, cerebrospinal fluid RGD PMID:12076997 RGD:5508822 NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081 		JBrowse link
G Serpine1 serpin family E member 1 disease_progression ISO protein:increased expression:plasma: RGD PMID:10739162 RGD:13208510 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:16412833 RGD:13204825 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:3,766,510...3,771,135 		JBrowse link
retinal vasculopathy with cerebral leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUD AND MIGRAINE PHENOMENA | ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena ClinVar PMID:1821204 PMID:3174024 PMID:9371916 PMID:16845398 PMID:17293595 More... NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:118,586,909...118,600,944 		JBrowse link
G Trex1 three prime repair exonuclease 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUD AND MIGRAINE PHENOMENA | ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena 		CTD
OMIM
ClinVar		 PMID:1821204 PMID:3174024 PMID:9371916 PMID:16845398 PMID:17293595 More... NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:118,585,081...118,586,083 		JBrowse link
Ribose 5-Phosphate Isomerase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpia ribose 5-phosphate isomerase A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deficiency of ribose-5-phosphate isomerase | ClinVar Annotator: match by term: RPIA-related condition 		OMIM
CTD
ClinVar		 PMID:10589548 PMID:14988808 PMID:20499043 PMID:25741868 PMID:28492532 More... NCBI chr 4:102,723,712...102,749,374
Ensembl chr 4:104,282,081...104,307,718 		JBrowse link
RNASET2-deficient cystic leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr18:28,629,795...28,631,884
Ensembl chr18:28,629,795...28,631,884 		JBrowse link
G Rnaset2 ribonuclease T2 ISO ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly | ClinVar Annotator: match by term: RNASET2-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19525954 PMID:25741868 PMID:27943079 PMID:28492532 PMID:28924877 NCBI chr 1:55,133,532...55,150,701
Ensembl chr 1:55,117,492...55,150,701 		JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Cystic Leukoencephalopathy ClinVar PMID:25741868 PMID:27159321 PMID:28857146 NCBI chr18:28,623,269...28,629,864
Ensembl chr18:28,623,269...28,629,864 		JBrowse link
secondary progressive multiple sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Chronic progressive multiple sclerosis ClinVar NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:136,253,278...136,260,085 		JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 3 		OMIM
CTD
ClinVar		 PMID:22448145 PMID:25741868 PMID:28492532 NCBI chr 9:64,214,935...64,228,408
Ensembl chr 9:64,215,128...64,338,443 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 More... NCBI chr15:39,461,853...39,546,419
Ensembl chr15:39,472,905...39,546,419 		JBrowse link
transverse myelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:21771203 PMID:23999580 RGD:5148008, RGD:8696028 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum, cerebral spinal fluid: RGD PMID:20128675 RGD:7829722 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Idiopathic transverse myelitis ClinVar PMID:25741868 PMID:28492532 PMID:29473047 NCBI chr16:58,434,802...58,478,777
Ensembl chr16:58,440,950...58,478,831 		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 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:22312439 PMID:25104557 PMID:25174650 PMID:25604855 PMID:26242991 More... NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO RGD PMID:24448401 RGD:14696801 NCBI chr18:73,567,537...73,575,473
Ensembl chr18:73,567,526...73,575,922 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:118,586,909...118,600,944 		JBrowse link
G Avp arginine vasopressin IEP protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:138,246,554...138,248,522 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP RGD PMID:24622829 PMID:32227765 RGD:10059369, RGD:597015752 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:33268848 PMID:35307828 NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:159,098,918...159,109,714 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:33268848 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599 		JBrowse link
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:33268848 PMID:35307828 NCBI chr14:85,632,338...85,678,016
Ensembl chr14:85,632,001...85,678,028 		JBrowse link
G Cdk5 cyclin-dependent kinase 5 treatment IEP RGD PMID:27118553 RGD:13792766 NCBI chr 4:11,647,098...11,651,606
Ensembl chr 4:11,647,141...11,652,777 		JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr11:16,783,971...16,810,500
Ensembl chr11:16,783,971...16,828,868 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:33268848 PMID:35307828 NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520 		JBrowse link
G Colgalt1 collagen beta(1-O)galactosyltransferase 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr16:18,353,779...18,366,087
Ensembl chr16:18,353,570...18,366,086 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 treatment IDA RGD PMID:27923588 RGD:401960869 NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:73,397,306...73,466,339 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:35307828 NCBI chr18:29,920,889...30,020,280
Ensembl chr18:29,920,889...30,020,280 		JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 8:113,646,573...113,756,104
Ensembl chr 8:113,646,573...113,756,104 		JBrowse link
G Eif4e eukaryotic translation initiation factor 4E IEP protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 2:229,736,309...229,772,628
Ensembl chr 2:229,739,897...229,774,105 		JBrowse link
G Epo erythropoietin IEP RGD PMID:17037738 RGD:10400891 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 treatment IEP RGD PMID:22500404 RGD:10402076 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment IEP RGD PMID:22500404 RGD:10402076 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit susceptibility ISO associated with stroke;DNA:polymorphism:promoter:-588C>T(human) RGD PMID:17548779 RGD:10402374 NCBI chr 2:213,032,135...213,052,192
Ensembl chr 2:213,031,838...213,055,003 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment IEP RGD PMID:24968700 RGD:11352822 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO associated with Alzheimer's disease RGD PMID:25261450 RGD:13792687 NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:28,501,836...28,528,754 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar
RGD		 PMID:35307828 PMID:25261450 RGD:13792687 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B severity ISO RGD PMID:25261450 RGD:13792687 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IDA RGD PMID:27118553 RGD:13792766 NCBI chr11:76,004,502...76,154,665
Ensembl chr11:76,009,507...76,153,249 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:polymorphism: :-110A>C(human) RGD PMID:15832029 RGD:10402403 NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,855,780...3,877,979 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:19387015 PMID:24500651 PMID:25741868 PMID:27164673 PMID:28492532 More... NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO
IEP 		mRNA,protein:decreased expression:hippocampus: RGD PMID:16181175 PMID:22342912 RGD:1598446, RGD:10045864 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:16983186 RGD:10045873 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:plasma RGD PMID:16600299 RGD:1626633 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr15:54,955,549...54,978,455
Ensembl chr15:54,955,552...54,978,455 		JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr 4:31,253,918...31,288,066
Ensembl chr 4:31,253,918...31,288,073 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment IEP RGD PMID:24070657 RGD:405096669 NCBI chr11:97,462,025...97,529,193
Ensembl chr11:97,462,025...97,527,825 		JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:27118553 RGD:13792766 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108 		JBrowse link
G Mir143 microRNA 143 treatment
exacerbates 		ISO
IDA 		RGD PMID:36459592 PMID:36459592 RGD:155882588, RGD:155882588 NCBI chr18:57,371,349...57,371,453 JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:16385583 RGD:1582624 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IEP protein:decreased expression:hippocampus RGD PMID:23053837 RGD:10401142 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr13:67,655,794...67,831,609
Ensembl chr13:67,655,807...67,831,608 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:14714274 PMID:15364702 PMID:16009764 PMID:24840674 PMID:25033846 More... NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778 		JBrowse link
G Nox1 NADPH oxidase 1 treatment IMP RGD PMID:24294978 RGD:329955573 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:101,572,340...101,595,520 		JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:28492532 PMID:33268848 NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:163,712,184...163,713,493 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 treatment IEP RGD PMID:32227765 RGD:597015752 NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,564,570...5,874,628 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr20:12,189,767...12,278,179
Ensembl chr20:12,192,353...12,278,178 		JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:30916555 RGD:242905183 NCBI chr20:9,471,136...9,564,286
Ensembl chr20:9,471,167...9,564,286 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:25850945 PMID:26467025 PMID:28492532 PMID:35307828 NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.C311S (human) RGD PMID:11803456 RGD:1580219 NCBI chr 4:34,356,270...34,391,684
Ensembl chr 4:34,356,274...34,391,996 		JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436 		JBrowse link
G Psen2 presenilin 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:26522186 PMID:28492532 PMID:33268848 NCBI chr13:94,499,451...94,528,419
Ensembl chr13:94,499,928...94,525,116 		JBrowse link
G Rpgrip1l Rpgrip1-like susceptibility ISO DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) RGD PMID:22425971 RGD:13204815 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Rps6 ribosomal protein S6 treatment IEP RGD PMID:25767501 RGD:11041644 NCBI chr 5:106,417,680...106,420,540
Ensembl chr 5:106,417,680...106,420,566 		JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19465911 NCBI chr 1:94,703,662...94,704,611
Ensembl chr 1:94,702,409...94,706,092 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr16:76,163,315...76,253,881
Ensembl chr16:76,162,922...76,253,881 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:35307828 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:cerebrospinal fluid
ClinVar Annotator: match by term: Vascular dementia 		ClinVar
RGD		 PMID:35307828 PMID:18577885 RGD:6478792 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:91,026,474...91,126,315 		JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:cerebrospinal fluid RGD PMID:18577885 RGD:6478792 NCBI chr16:9,706,765...9,712,072
Ensembl chr16:9,706,753...9,712,076 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human) RGD PMID:16082694 RGD:1581412 NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:115,543,290...115,600,943 		JBrowse link
G Sst somatostatin IEP protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr11:90,461,546...90,462,823
Ensembl chr11:90,461,546...90,462,823 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr16:76,473,026...76,507,404
Ensembl chr16:76,473,859...76,503,951 		JBrowse link
G Tmem106b transmembrane protein 106B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr 4:42,294,074...42,313,426
Ensembl chr 4:42,294,101...42,313,407 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter:-850C>T(human) RGD PMID:11273064 RGD:13825254 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tp53 tumor protein p53 IEP protein:increased expression:brain RGD PMID:18083315 RGD:2290557 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:17660818 PMID:21270825 PMID:23881107 PMID:23979357 PMID:25741868 More... NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:118,585,081...118,586,083 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:25741868 PMID:28492532 PMID:35307828 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600 		JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr17:31,002,186...31,006,057
Ensembl chr17:30,983,387...31,006,838 		JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr  X:21,228,809...21,232,228
Ensembl chr  X:21,229,197...21,232,268 		JBrowse link
G Vps13a vacuolar protein sorting 13 homolog A ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr 1:223,328,784...223,555,500
Ensembl chr 1:223,328,784...223,555,331 		JBrowse link
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:132,528,107...132,567,237 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy ClinVar PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:132,572,148...132,584,254 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            Leukoencephalopathies 610
              Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate 1
              Adult-Onset Muscular Dystrophy with Leukoencephalopathy 1
              Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 3
              Cerebroretinal Microangiopathy with Calcifications and Cysts + 4
              DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY 1
              Demyelinating Autoimmune Diseases, CNS + 386
              Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy + 3
              Hereditary Central Nervous System Demyelinating Diseases + 114
              Hereditary Diffuse Leukoencephalopathy with Spheroids 2 1
              Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
              LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME 1
              LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED 1
              LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS 1
              Labrune Syndrome 3
              Leukoencephalopathy with Ataxia 1
              Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 3
              Leukoencephalopathy with Dystonia and Motor Neuropathy 1
              Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 0
              Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome 1
              Multiple mitochondrial dysfunctions syndrome 8 2
              Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 1
              Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities 2
              Oculopharyngeal Myopathy with Leukoencephalopathy 1 0
              Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant 2
              Posterior Leukoencephalopathy Syndrome 1
              RNASET2-deficient cystic leukoencephalopathy 3
              Ribose 5-Phosphate Isomerase Deficiency 1
              Telencephalic Leukoencephalopathy 0
              X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 2
              adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 2
              brain small vessel disease 1 3
              combined oxidative phosphorylation deficiency 12 2
              hypomyelinating leukoencephalopathy 0
              inclusion body myopathy and brain white matter abnormalities 1
              intellectual disability and myopathy syndrome 1
              leukoencephalopathy with vanishing white matter + 8
              progressive leukoencephalopathy with ovarian failure 2
              progressive multifocal leukoencephalopathy 1
              spastic ataxia 3 2
              vascular dementia + 77
paths to the root