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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:Diseases of the Aged
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Accession:DOID:9007801 term browser browse the term
Definition:The range of diseases that occur mostly in the elderly.
Synonyms:exact_synonym: aging-associated diseases;   diseases of the elderly
 subset: RGD_JBrowse_slim


show annotations for term's descendants           Sort by:
Diseases of the Aged term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpa CCAAT/enhancer binding protein alpha ISO mRNA:increased expression:hippocampus (human) RGD PMID:14769913 RGD:10401224 NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP RGD PMID:24336883 RGD:10401813 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
age related macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Age-related macular degeneration | ClinVar Annotator: match by term: MACULAR DEGENERATION, SENILE | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED ClinVar PMID:248200 PMID:3002862 PMID:3196484 PMID:3253185 PMID:4097981 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISS MouseDO NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISS MouseDO NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cd46 CD46 molecule ISS MouseDO NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cfhr1 complement factor H-related 1 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:15269314 PMID:16652333 PMID:20007835 PMID:20599547 PMID:21576112 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-1894G>A (rs3793917) (human) RGD PMID:22618592 RGD:7394695 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISS MouseDO NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
age related macular degeneration 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 		CTD
OMIM
ClinVar		 PMID:8488843 PMID:8750611 PMID:9279208 PMID:9360638 PMID:9603433 More... NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592 		JBrowse link
G Cryba1 crystallin, beta A1 ISS OMIM:603075 MouseDO NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Hmcn1 hemicentin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: HMCN1-related condition | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:9715689 PMID:14570714 PMID:17216616 PMID:17576681 More... NCBI chr13:62,615,461...63,084,524
Ensembl chr13:62,615,461...63,084,524 		JBrowse link
G Vldlr very low density lipoprotein receptor ISS OMIM:603075 MouseDO NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
age related macular degeneration 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 11 		OMIM
CTD
ClinVar		 PMID:11815350 PMID:25741868 PMID:25893795 PMID:28492532 PMID:33116287 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
age related macular degeneration 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO
ISS 		ClinVar Annotator: match by term: Age related macular degeneration 12
OMIM:613784 		OMIM
ClinVar
MouseDO		 PMID:25741868 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
age related macular degeneration 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: Macular degeneration, age-related, 13, susceptibility to ClinVar
OMIM		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 More... NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
age related macular degeneration 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF ClinVar PMID:3002862 PMID:9054934 PMID:9973280 PMID:10090887 PMID:10612508 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Age related macular degeneration 14 OMIM
ClinVar		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 PMID:9670930 More... NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Age related macular degeneration 14 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF ClinVar
OMIM		 PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF ClinVar PMID:15269314 PMID:16652333 PMID:20007835 PMID:28492532 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
age related macular degeneration 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9 complement C9 ISO ClinVar Annotator: match by term: Age related macular degeneration 15 ClinVar
OMIM		 PMID:2241452 PMID:9144525 PMID:9182899 PMID:9570574 PMID:9634479 More... NCBI chr 2:57,300,510...57,348,759
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
age related macular degeneration 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:248200 PMID:3002862 PMID:3196484 PMID:3253185 PMID:4097981 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
Age Related Macular Degeneration 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration, age-related, 3 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2965322 PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
age related macular degeneration 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 4
OMIM:610698 		CTD
ClinVar
OMIM
MouseDO		 PMID:3418956 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 More... NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
age related macular degeneration 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO ClinVar Annotator: match by term: Age related macular degeneration 5 ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:9150142 PMID:9443879 PMID:9536098 More... NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
age related macular degeneration 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO DNA:SNPs, haplotype: :multiple RGD PMID:19899988 RGD:7401252 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cfb complement factor B no_association ISO DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) RGD PMID:19899988 RGD:7401252 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Age related macular degeneration 7 ClinVar NCBI chr15:101,469,159...101,508,029
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility
severity 		ISO ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:multiple (human)
DNA:snp:promoter:g.-497C>T (rs2672598) (human)
DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human)
DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human) 		OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:17053108 PMID:17053109 PMID:17568988 PMID:18511946 More... RGD:7394722, RGD:7394721, RGD:7394719, RGD:7394713, RGD:7387295 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Macular degeneration, age-related, neovascular type ClinVar NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
age related macular degeneration 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO 		CTD
ClinVar
OMIM		 PMID:1976733 PMID:6103091 PMID:7870343 PMID:9536098 PMID:12462331 More... NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
AIDS Dementia Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:20818790 RGD:10395393 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Gc GC, vitamin D binding protein ISO associated with HIV Infections;protein:increased expression:cerebrospinal fluid: RGD PMID:17929958 RGD:5509882 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:neocortex RGD PMID:17678975 RGD:1626641 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Insr insulin receptor severity ISO protein:increased expression:cerebrospinal fluid, plasma RGD PMID:22629383 RGD:10403033 NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Irs1 insulin receptor substrate 1 severity ISO protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte RGD PMID:22629383 RGD:10403033 NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Nefl neurofilament light chain ISO associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)
protein:increased expression:CSF (human) 		RGD PMID:30105502 PMID:27400930 RGD:127284876, RGD:127284885 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Npy neuropeptide Y severity ISO protein:increased expression:cerebrospinal fluid RGD PMID:8815163 RGD:10431910 NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27400929 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21368226 RGD:6482787 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO RGD PMID:25404050 RGD:38676266 NCBI chr10:62,322,688...62,357,060
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
Alzheimer's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin no_association
onset 		ISO DNA:deletion:splice junction:
DNA:insertion/deletion, substitution
DNA:polymorphism: :p.I1000V (human)
DNA:deletion, polymorphisms, haplotypes: :multiple
DNA:polymorphisms: :multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM 		CTD
ClinVar
RGD		 PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 More... RGD:1300322, RGD:1302534, RGD:10046012, RGD:10046014, RGD:10046015, RGD:10046016, RGD:10046016 NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Abat 4-aminobutyrate aminotransferase ISO RGD PMID:1627256 RGD:10046060 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Abca1 ATP binding cassette subfamily A member 1 ISO RGD PMID:15024730 RGD:1300323 NCBI chr 5:72,473,676...72,596,563
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Abca7 ATP binding cassette subfamily A member 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, early onset 		CTD
ClinVar		 PMID:21460840 PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 More... NCBI chr 7:10,342,092...10,362,094
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO RGD PMID:25991605 RGD:13801010 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 ISO RGD PMID:25991605 RGD:13801010 NCBI chr10:1,022,041...1,162,431
Ensembl chr10:531,812...655,114 		JBrowse link
G Abi3 ABI family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28714976 NCBI chr10:80,769,819...80,780,816
Ensembl chr10:80,769,822...80,780,816 		JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO protein:increased expression:brain: RGD PMID:19700222 RGD:8693570 NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Acadvl acyl-CoA dehydrogenase, very long chain ISO protein:decreased expression:brain RGD PMID:25260493 RGD:10047114 NCBI chr10:55,231,558...55,236,786
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Ace angiotensin I converting enzyme IMP
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9916793 PMID:10643899 PMID:14872014 PMID:17192785 PMID:30820047 More... RGD:2325232, RGD:1331525 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:22944069 PMID:23047022 PMID:16581404 RGD:5509844 NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP
ISO 		protein:decreased expression:cerebral cortex, hippocampus
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:30820047 PMID:23296102 PMID:24792732 RGD:13703032, RGD:13703037 NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 onset IEP
ISO 		protein:decreased expression:cerebral cortex, hippocampus
DNA:missense mutation: :p.R215I (rs142946965) (human) 		RGD PMID:24792732 PMID:29988083 RGD:13703037, RGD:13782143 NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:40,872,856...40,920,639 		JBrowse link
G Adam2 ADAM metallopeptidase domain 2 ISO protein:increased expression:brain RGD PMID:10686596 RGD:10047127 NCBI chr15:40,242,651...40,284,025
Ensembl chr15:40,242,783...40,283,952 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 IEP protein:decreased expression:hippocampus RGD PMID:24792732 RGD:13703037 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917 		JBrowse link
G Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease 		CTD
ClinVar		 PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 PMID:30820047 NCBI chr11:38,418,565...38,427,384
Ensembl chr11:24,931,761...24,941,103 		JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma
protein:increased expression:cerebrospinal fluid, plasma 		RGD PMID:22213409 PMID:20727007 RGD:5686377, RGD:5686881 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adnp activity-dependent neuroprotector homeobox ISO RGD PMID:18199809 PMID:17720885 RGD:2312791, RGD:2312792 NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Adra1a adrenoceptor alpha 1A susceptibility ISO RGD PMID:114750 RGD:5688374 NCBI chr15:45,005,648...45,111,416
Ensembl chr15:40,832,534...40,927,500 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R (human) RGD PMID:17440948 RGD:2311642 NCBI chr16:71,544,603...71,547,410
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO
IDA
IEP 		protein:increased expression:brain (human)
mRNA:increased expression:hippocampus, cerebral cortex (mouse)
protein:increased expression:hippocampus (rat) 		RGD PMID:8751438 PMID:22415896 PMID:21593432 PMID:23164356 PMID:23396166 More... RGD:1300365, RGD:7245561, RGD:7245965, RGD:7244287, RGD:7244266, RGD:7244266, RGD:6784502 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297254 RGD:5129180 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment ISO protein:decreased expression:substantia nigra: RGD PMID:21929736 PMID:8666063 RGD:10047395, RGD:10047397 NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO mRNA:increased expression:frontal cortex (human)
protein:altered expression:hippocampus (mouse) 		RGD PMID:16340083 PMID:19084047 RGD:2313045, RGD:2313023 NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO protein:increased expression:cortex,nucleus:
protein:increased expression:basal forebrain,amygdala: 		RGD PMID:24915960 PMID:22536549 RGD:10053592, RGD:10053593 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Akap5 A-kinase anchoring protein 5 ISO protein:increased expression:cell soma, dendritic arbor (human) RGD PMID:10460255 RGD:2313287 NCBI chr 6:95,051,527...95,061,075
Ensembl chr 6:95,051,537...95,061,578 		JBrowse link
G Akr7a2 aldo-keto reductase family 7, member A2 ISO protein:increased expression:superior, middle temporal gyrus; RGD PMID:11597610 RGD:14349051 NCBI chr 5:151,552,375...151,560,914
Ensembl chr 5:151,552,343...151,560,909 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased tyrosine phosphorylation:cerebral cortex RGD PMID:18023354 RGD:5509085 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member onset ISO RGD PMID:15126281 RGD:1599042 NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO protein:increased expression:brain RGD PMID:20570249 PMID:15111312 RGD:5509595, RGD:5509620 NCBI chr10:55,559,060...55,567,535
Ensembl chr10:55,060,412...55,068,874 		JBrowse link
G Ambra1 autophagy and beclin 1 regulator 1 ISO RGD PMID:23910655 RGD:14390071 NCBI chr 3:98,156,626...98,345,876
Ensembl chr 3:77,700,936...77,890,221 		JBrowse link
G Amfr autocrine motility factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22313999 NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247 		JBrowse link
G Ang angiogenin severity ISO protein:decreased expression:serum RGD PMID:22449478 RGD:6892705 NCBI chr15:26,786,233...26,796,883 JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression:brain, plasma
protein:increased expression: plasma 		RGD PMID:20648654 PMID:20648654 RGD:7242030, RGD:7242030 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 severity ISO protein:increased expression:plasma RGD PMID:17393059 RGD:2313919 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Apbb1 amyloid beta precursor protein binding family B member 1 susceptibility
no_association 		ISO DNA:mutations::multiple
mRNA:altered expression:brain:
DNA:deletion:intron:
DNA:polymorphism:intron: 		RGD PMID:9799084 PMID:10723070 PMID:12727304 PMID:11099823 RGD:2301212, RGD:10054036, RGD:10054031, RGD:10054028 NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627 		JBrowse link
G Apbb2 amyloid beta precursor protein binding family B member 2 onset ISO DNA:SNPs: :rs13133980,rs17443013(human) RGD PMID:15714520 RGD:9684954 NCBI chr14:41,557,918...41,878,622
Ensembl chr14:41,557,972...41,877,495 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO protein:increased expression:astrocyte RGD PMID:11547943 RGD:6484525 NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Aph1a aph-1 homolog A, gamma secretase subunit treatment ISO RGD PMID:28588301 PMID:29926633 RGD:13703122, RGD:13703123 NCBI chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955 		JBrowse link
G Aph1b aph-1 homolog B, gamma secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243 		JBrowse link
G Aplp2 amyloid beta precursor like protein 2 IDA RGD PMID:8086458 RGD:734582 NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855 		JBrowse link
G Apoa1 apolipoprotein A1 resistance ISO DNA: : :transgenic model RGD PMID:20847045 PMID:19863188 RGD:5508212, RGD:5508218 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa4 apolipoprotein A4 no_association ISO DNA:missense mutation:cds:p.Q360H (human)
DNA:snp, haplotype:cds:p.S147N (rs5104) (human) 		RGD PMID:21356380 PMID:10559562 PMID:9272683 PMID:16013913 RGD:5685638, RGD:5685682, RGD:5685681, RGD:5685661 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apoc1 apolipoprotein C1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:29107063 PMID:30319691 PMID:11825674 RGD:1578472 NCBI chr 1:79,347,057...79,350,340
Ensembl chr 1:79,346,136...79,350,375 		JBrowse link
G Apod apolipoprotein D ISO protein:increased expression:cerebrospinal fluid, hippocampus RGD PMID:9751198 RGD:2311209 NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305 		JBrowse link
G Apoe apolipoprotein E susceptibility
treatment
no_association 		ISO
IEP 		ClinVar Annotator: match by term: Alzheimer disease, early onset
DNA:SNP: :APOEe4(human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-491A>T,-427T>C(human)
protein:increased expression:hippocampus, synapse (rat)
protein:increased expression:parietal cortex, synapse (human)
DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human) 		ClinVar
CTD
RGD		 PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... RGD:1331525, RGD:10427727, RGD:12904712, RGD:7771594, RGD:6903910, RGD:6903910, RGD:6903233 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G App amyloid beta precursor protein susceptibility
treatment 		ISO
IEP
ISS
IDA 		ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, early onset | ClinVar Annotator: match by term: Alzheimer disease, protection against | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease
CTD Direct Evidence: marker/mechanism
human transgene in rat model
associated with hypertension
DNA:mutation:p.D678N (human)
protein:increased expression:cerebral spinal fluid fluid,brain:
protein:decreased expression:cerebrospinal fluid: 		ClinVar
MouseDO
CTD
RGD		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1307241 PMID:1415269 More... RGD:1599199, RGD:597830179, RGD:2290385, RGD:13782183, RGD:13782049, RGD:13782047, RGD:13782044, RGD:10054280, RGD:1302530, RGD:10054258, RGD:10054257 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Arc activity-regulated cytoskeleton-associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18503570 NCBI chr 7:106,555,968...106,559,697
Ensembl chr 7:106,555,785...106,559,378 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO protein:increased expression:brain, glial cell (human) RGD PMID:11556547 RGD:4139898 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:9138733 PMID:15878807 RGD:10047399, RGD:10047400 NCBI chr 3:79,125,814...79,202,896
Ensembl chr 3:58,718,332...58,795,236 		JBrowse link
G Atm ATM serine/threonine kinase disease_progression ISO RGD PMID:23861893 RGD:10047419 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha treatment
onset 		ISO
IEP 		CTD Direct Evidence: marker/mechanism
protein:increased modification:inferior parietal cortex (human) 		CTD
RGD		 PMID:19374891 PMID:25561935 PMID:19374891 RGD:13703056, RGD:13703046 NCBI chr18:73,567,537...73,575,473
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO RGD PMID:28474567 RGD:13792588 NCBI chr 7:10,211,260...10,218,989
Ensembl chr 7:9,560,608...9,565,929 		JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO RGD PMID:28474567 RGD:13792588 NCBI chr 8:54,122,457...54,130,407
Ensembl chr 8:45,225,686...45,233,559 		JBrowse link
G Atp5pf ATP synthase peripheral stalk subunit F6 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr11:37,368,045...37,375,721
Ensembl chr11:23,881,592...23,889,119 		JBrowse link
G Atp5po ATP synthase peripheral stalk subunit OSCP treatment ISO RGD PMID:30266287 PMID:30266287 RGD:14696823, RGD:14696823 NCBI chr11:44,651,171...44,657,483
Ensembl chr11:31,165,217...31,171,592 		JBrowse link
G Atp6v0e1 ATPase H+ transporting V0 subunit e1 ISO RGD PMID:23211594 RGD:10401913 NCBI chr10:16,984,084...17,007,156
Ensembl chr10:16,479,567...16,524,434 		JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA:decreased expression:pituitary gland, vascular plexus (rat) RGD PMID:20027333 RGD:8657017 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atr ATR serine/threonine kinase ISO RGD PMID:23861893 RGD:10047419 NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:96,426,724...96,524,136 		JBrowse link
G Bace1 beta-secretase 1 susceptibility
treatment 		ISO
IEP 		CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:12824768 PMID:16407166 PMID:12824768 PMID:28763060 PMID:29038004 RGD:1358439, RGD:1358439, RGD:13782083, RGD:13782077 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876 		JBrowse link
G Bace2 beta-secretase 2 susceptibility ISO mRNA,protein:increased expression:gyrus:
DNA:SNP,haplotype:exon: 		RGD PMID:22074738 PMID:16023140 RGD:13782172, RGD:13782180 NCBI chr11:36,707,447...36,789,550
Ensembl chr11:36,707,458...36,789,546 		JBrowse link
G Bad BCL2-associated agonist of cell death treatment ISO protein:increased expression:temporal cortex, membrane RGD PMID:15339646 PMID:9507158 RGD:10053639, RGD:10053642 NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Baiap2 BAR/IMD domain containing adaptor protein 2 ISO protein:decreased expression:cerebral cortex, postsynaptic density (human) RGD PMID:23537733 RGD:11576299 NCBI chr10:105,223,065...105,290,130
Ensembl chr10:105,223,090...105,290,134 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 RGD:10053642 NCBI chr20:5,102,334...5,111,615
Ensembl chr20:5,100,480...5,109,264 		JBrowse link
G Barhl1 BarH-like homeobox 1 ISO protein:decreased expression:brain RGD PMID:28956815 RGD:14390165 NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18077176 PMID:17639989 PMID:29587274 PMID:29777699 PMID:21585051 More... RGD:2293073, RGD:13782188, RGD:13782186, RGD:10054049, RGD:10054047, RGD:10054039 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcan brevican ISO protein:altered modification:brain RGD PMID:20180882 RGD:14392785 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460 		JBrowse link
G Bche butyrylcholinesterase severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23022600 PMID:22012848 PMID:16973370 RGD:5687327, RGD:5688056 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP
ISO
IDA 		CTD Direct Evidence: marker/mechanism
protein:increased expression:temporal cortex, membrane 		CTD
RGD		 PMID:18077176 PMID:17639989 PMID:29587274 PMID:29777699 PMID:26897372 More... RGD:2293073, RGD:13782188, RGD:13782186, RGD:11522767, RGD:10054049, RGD:10054047, RGD:10053642 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO protein:increased expression:temporal cortex, membrane RGD PMID:9507158 RGD:10053642 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Bcl2l2 Bcl2-like 2 treatment ISO
IEP 		protein:increased expression:hippocampus, cortex RGD PMID:15147516 PMID:20460763 RGD:14394419, RGD:14394421 NCBI chr15:32,326,686...32,337,834
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment
no_association
onset 		IMP
IEP
ISO 		CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)
DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human)
DNA:polymorphism: :p.V66M (human)
protein:decreased expression:parietal cortex
DNA:SNP:CDS:rs1048218 (human) 		CTD
RGD		 PMID:17344400 PMID:20646587 PMID:33352241 PMID:30776009 PMID:24877042 More... RGD:4891131, RGD:597015751, RGD:405850256, RGD:10059402, RGD:10059346, RGD:10059345, RGD:10059343, RGD:10058980, RGD:5508228, RGD:1331525 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:gray matter RGD PMID:18497889 PMID:20863706 RGD:6483101, RGD:6483102 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bin1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460841 PMID:33589840 NCBI chr18:24,282,840...24,341,461
Ensembl chr18:24,009,653...24,067,263 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:19463786 RGD:10414082 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO protein:increased expression:microglia: RGD PMID:9792236 RGD:9586059 NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769 		JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human) RGD PMID:25391381 RGD:11252150 NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324 		JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170 		JBrowse link
G C11h21orf91 similar to human chromosome 21 open reading frame 91 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:17,229,129...17,262,307
Ensembl chr11:17,229,138...17,262,483 		JBrowse link
G C1qb complement C1q B chain ISO mRNA:increased expression:microglial cell RGD PMID:1362796 RGD:1599518 NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:149,118,846...149,124,407 		JBrowse link
G C2 complement C2 ISO DNA:SNP, haplotype: :p.E318D (rs9332739) (human) RGD PMID:22300950 RGD:7401250 NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs22300199 (human) RGD PMID:22300950 RGD:7401250 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C5ar1 complement C5a receptor 1 ISO protein:decreased expression:brain RGD PMID:12759460 RGD:5130177 NCBI chr 1:86,077,309...86,088,001 JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO protein:decreased expression:brain RGD PMID:23403102 RGD:13782264 NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Calm1 calmodulin 1 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:cerebellar cortex: 		CTD
RGD		 PMID:11470324 PMID:11470324 RGD:13792493 NCBI chr 6:125,217,191...125,227,855
Ensembl chr 6:119,487,621...119,498,227 		JBrowse link
G Calml5 calmodulin-like 5 ISO protein:altered expression:neuron,glia RGD PMID:11470324 RGD:13792493 NCBI chr17:71,304,326...71,305,245 JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO RGD PMID:15621017 RGD:13681926 NCBI chr18:56,648,779...56,711,505
Ensembl chr18:54,378,784...54,438,994 		JBrowse link
G Capn1 calpain 1 onset ISO protein:increased activity:brain: RGD PMID:8622780 PMID:11231011 RGD:13792495, RGD:13792663 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
G Capn2 calpain 2 ISO protein:increased expression:cytosol RGD PMID:9654354 RGD:13792661 NCBI chr13:96,681,902...96,732,625
Ensembl chr13:94,150,240...94,200,969 		JBrowse link
G Casp1 caspase 1 ISO RGD PMID:12633148 RGD:13782269 NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Casp12 caspase 12 treatment IEP RGD PMID:29126976 RGD:13782165 NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Casp2 caspase 2 ISO RGD PMID:12633148 RGD:13782269 NCBI chr 4:71,149,632...71,167,388
Ensembl chr 4:71,149,669...71,167,379 		JBrowse link
G Casp3 caspase 3 treatment ISO
IEP 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18077176 PMID:10319819 PMID:29642617 PMID:12633148 PMID:29587274 More... RGD:734692, RGD:13782291, RGD:13782269, RGD:13782188, RGD:13782186 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp6 caspase 6 ISO RGD PMID:12633148 RGD:13782269 NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502 		JBrowse link
G Casp7 caspase 7 ISO DNA:SNPs, haplotype RGD PMID:26621834 PMID:12633148 RGD:11344490, RGD:13782269 NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729 		JBrowse link
G Casp8 caspase 8 treatment ISO
IEP 		RGD PMID:16772874 PMID:29642617 PMID:12633148 RGD:13782268, RGD:13782291, RGD:13782269 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Casp9 caspase 9 treatment IEP
ISO 		RGD PMID:29777699 PMID:12633148 RGD:13782186, RGD:13782269 Ensembl chr 5:154,109,046...154,126,626 JBrowse link
G Cass4 Cas scaffold protein family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30320580 PMID:33589840 NCBI chr 3:161,162,520...161,202,523
Ensembl chr 3:161,163,436...161,202,186 		JBrowse link
G Cast calpastatin ISO protein:decreased expression:brain RGD PMID:20595388 PMID:19020018 RGD:5509799, RGD:5509809 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Cav1 caveolin 1 ISS OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 MouseDO NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Ccdc6 coiled-coil domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr20:18,432,177...18,528,186
Ensembl chr20:18,433,695...18,528,658 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:cerebrum, blood vessels (human) RGD PMID:18440671 RGD:4890025 NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Ccng1 cyclin G1 ISO protein:increased expression:brain, neuron RGD PMID:12214116 RGD:2316025 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 severity ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO
IMP 		protein:increased expression:brain, microglia (human) RGD PMID:9665462 PMID:15979806 RGD:4890447, RGD:4890446 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd2ap CD2-associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 PMID:30320580 NCBI chr 9:25,580,071...25,679,968
Ensembl chr 9:18,086,984...18,182,199 		JBrowse link
G Cd33 CD33 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 NCBI chr 1:93,935,418...93,940,452
Ensembl chr 1:93,930,971...93,950,149 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16563568 RGD:6893531 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:21414686 RGD:5490302 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:frontal cortex, astrocyte RGD PMID:11755016 PMID:11755016 RGD:8547803, RGD:8547803 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cdc42 cell division cycle 42 ISO RGD PMID:10817927 RGD:5688277 NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Cdk5 cyclin-dependent kinase 5 treatment IEP
ISO 		DNA:SNP:intron:g.149800G>C (human) RGD PMID:28269780 PMID:28085018 PMID:15917097 RGD:13508590, RGD:13792587, RGD:13782365 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112 		JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 ISO DNA:SNP:3' UTR:rs735555 (human) RGD PMID:28578378 PMID:19154537 PMID:24725413 RGD:13782362, RGD:13782364, RGD:13782363 NCBI chr10:65,484,266...65,485,467
Ensembl chr10:65,483,941...65,488,456 		JBrowse link
G Cdk7 cyclin-dependent kinase 7 ISO protein:increased expression:neuron: RGD PMID:11124424 RGD:10059352 NCBI chr 2:33,574,623...33,599,485
Ensembl chr 2:31,840,558...31,865,383 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO protein:decreased expression:forebrain, hindbrain (mouse)
mRNA:increased expression:hippocampus (human) 		RGD PMID:21492414 PMID:14769913 RGD:10401190, RGD:10401224 NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta treatment ISO mRNA:increased expression:hippocampus CA1 (human) RGD PMID:12391607 PMID:23911420 RGD:10401229, RGD:10401268 NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO protein:decreased expression:hypothalamus RGD PMID:14757935 RGD:11566025 NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Chat choline O-acetyltransferase IEP
ISO 		DNA:polymorphism:CDS:4G>A (human) RGD PMID:16834974 PMID:12401548 RGD:1600851, RGD:1358495 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Chodl chondrolectin ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:17,654,137...17,676,450
Ensembl chr11:17,654,206...17,676,441 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18071042 PMID:15465084 RGD:1358509 NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17192785 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Cib1 calcium and integrin binding 1 IEP protein:decreased expression:brain (human) RGD PMID:15885068 RGD:10401854 NCBI chr 1:143,587,591...143,593,153
Ensembl chr 1:134,178,331...134,213,423 		JBrowse link
G Clock clock circadian regulator susceptibility ISO DNA:snp:intron:c.982+247G>C (rs1554483) (human)
DNA:snp:3' utr:c.3111T>C (human)
DNA:snp:intron:c.560-1279C>G (rs4580704) (human) 		RGD PMID:23781009 PMID:23912676 PMID:23357097 RGD:10401861, RGD:10401872, RGD:10401862 NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400 		JBrowse link
G Clu clusterin ISO ClinVar Annotator: match by term: Alzheimer disease
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:19734902 PMID:19734903 PMID:21460841 PMID:28492532 PMID:29476165 More... RGD:8903235 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:21918687 RGD:6483333 NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720 		JBrowse link
G Cox7c cytochrome c oxidase subunit 7C ISO RGD PMID:28474567 RGD:13792588 NCBI chr 2:18,577,145...18,579,170
Ensembl chr 2:16,840,837...16,843,760 		JBrowse link
G Crebbp CREB binding protein treatment ISO protein:increased phosphorylation:hippocampus: RGD PMID:21149712 PMID:17760871 RGD:10059608, RGD:10059609 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Crh corticotropin releasing hormone ISO protein:decreased expression:cerebral cortex (human)
CTD Direct Evidence: therapeutic 		CTD
RGD		 PMID:7477348 PMID:7477348 RGD:5508831 NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Crp C-reactive protein ISO RGD PMID:22202667 RGD:6904208 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:30279455 NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:10514399 RGD:10395229 NCBI chr18:57,285,156...57,320,540
Ensembl chr18:55,017,055...55,049,271 		JBrowse link
G Csnk1d casein kinase 1, delta severity ISO protein:increased expression:CA1 field of hippocampus:
mRNA,protein:increased expression:brain: 		RGD PMID:10514399 PMID:10814741 RGD:10395229, RGD:10395230 NCBI chr10:106,713,497...106,754,953
Ensembl chr10:106,221,992...106,256,614 		JBrowse link
G Csnk1e casein kinase 1, epsilon ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:10514399 RGD:10395229 NCBI chr 7:112,863,726...112,887,338
Ensembl chr 7:110,983,318...111,006,794 		JBrowse link
G Cst3 cystatin C susceptibility ISO protein:decreased expression:serum (human)
protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism|therapeutic 		CTD
RGD		 PMID:17192785 PMID:18026100 PMID:18824671 PMID:15907478 RGD:2314333, RGD:1358533 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Ctnnb1 catenin beta 1 treatment ISO
IEP 		protein:increased expression:neuron,cytoplasm:
protein:decreased expression:hippocampus
protein:decreased expression:nucleus: 		RGD PMID:15781969 PMID:12610652 PMID:11226152 RGD:10395258, RGD:10395276, RGD:1302533 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Ctsd cathepsin D ISO RGD PMID:11304834 RGD:1358532 NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:197,527,467...197,539,488 		JBrowse link
G Ctss cathepsin S ISO RGD PMID:7717452 RGD:5686914 NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Cxadr CXADR, Ig-like cell adhesion molecule ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:30,469,778...30,516,990
Ensembl chr11:16,982,860...17,030,046 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO mRNA:altered expression:cerebellum, hippocampus (human)
DNA:polymorphism 		RGD PMID:18180323 PMID:16882736 RGD:4889108, RGD:1600861 NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7574463 NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19286353 PMID:12232784 RGD:1358575 NCBI chr 6:127,247,543...127,274,765
Ensembl chr 6:127,243,315...127,274,760 		JBrowse link
G Cyyr1 cysteine and tyrosine rich 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr11:24,557,620...24,664,007
Ensembl chr11:24,515,316...24,663,961 		JBrowse link
G Dbn1 drebrin 1 disease_progression ISO protein:decreased expression:hippocampal formation:
mRNA:decreased expression:parietal cortex, temporal cortex, hippocampus:
protein:decreased expression:hippocampus,neuronal spine: 		RGD PMID:8838578 PMID:18338803 PMID:17912741 RGD:10395286, RGD:10398821, RGD:10398820 NCBI chr17:9,150,608...9,164,982
Ensembl chr17:9,150,659...9,164,984 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 treatment ISO RGD PMID:28863860 RGD:150519888 NCBI chr20:3,047,269...3,069,277
Ensembl chr20:3,044,320...3,064,468 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042211 NCBI chr 5:126,573,366...126,599,940
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO RGD PMID:24156266 RGD:13792688 NCBI chr10:55,239,397...55,267,780
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase susceptibility ISO DNA:polymorphisms: : RGD PMID:10227647 RGD:1358587 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Dnm1 dynamin 1 ISO
IEP 		protein:decreased expression:hippocampus,entorhinal cortex:
mRNA,protein:decreased expression:hippocampus, temporal cortex
denntate gyrus, hippocampus, entorhinal cortex 		RGD PMID:20847448 PMID:20847448 PMID:20847448 RGD:13506238, RGD:13506238, RGD:13506238 NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:15,604,784...15,648,538 		JBrowse link
G Dnm1l dynamin 1-like ISO protein:decreased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr11:98,084,049...98,135,663
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Dpysl2 dihydropyrimidinase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374891 NCBI chr15:45,181,041...45,287,065
Ensembl chr15:41,005,551...41,111,829 		JBrowse link
G Drd1 dopamine receptor D1 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr17:10,545,488...10,550,029
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Drd2 dopamine receptor D2 ISO protein:decreased expression:blood, lymphocyte RGD PMID:11087905 RGD:5686416 NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd3 dopamine receptor D3 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr11:70,385,586...70,437,793
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Drd4 dopamine receptor D4 ISO protein:decreased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr 1:205,825,937...205,829,124
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Drd5 dopamine receptor D5 ISO protein:increased expression:frontal cortex, neuron RGD PMID:17182012 RGD:5686412 NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO protein:increased expression:brain RGD PMID:9402150 RGD:13207349 NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G E2f1 E2F transcription factor 1 ISO protein:increased expression:cerebral cortex,cytoplasm: RGD PMID:11939591 RGD:10401093 NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO RGD PMID:15340356 RGD:1580902 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO protein:increased expression:CA1field of hippocampus: RGD PMID:8750861 RGD:10401216 NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:brain: RGD PMID:1331687 RGD:10401652 NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:8,533,116...8,559,183 		JBrowse link
G Eef2k eukaryotic elongation factor-2 kinase ISO RGD PMID:16098202 RGD:10401651 NCBI chr 1:175,393,119...175,456,756
Ensembl chr 1:175,393,154...175,455,164 		JBrowse link
G Egf epidermal growth factor ISO protein:decreased expression:platelet RGD PMID:21875409 RGD:10059680 NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Egfr epidermal growth factor receptor treatment ISO RGD PMID:23019586 RGD:10059684 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Egr1 early growth response 1 treatment ISO protein:increased expression:temporal cortex, hippocampus (human) RGD PMID:21489990 PMID:23642031 PMID:21969301 RGD:5131647, RGD:10395279, RGD:10395277 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO protein:increased threonine phosphorylation:hippocampus RGD PMID:24315369 PMID:15567511 RGD:10395344, RGD:10395348 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha severity ISO CTD Direct Evidence: marker/mechanism
protein:increased phosphorylation:hippocampus 		CTD
RGD		 PMID:17406652 PMID:16691116 PMID:24315369 PMID:16954686 RGD:10395316, RGD:10395344, RGD:10395343 NCBI chr 6:103,405,880...103,430,549
Ensembl chr 6:97,672,766...97,706,225 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:3,692,367...3,709,252
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased S-glutathionylation, decreased activity:inferior parietal cortex 		CTD
RGD		 PMID:19374891 PMID:17387692 RGD:13792613 NCBI chr 5:166,002,867...166,014,252
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G Ep300 E1A binding protein p300 ISO mRNA:increased expression:temporal cortex (human) RGD PMID:23585551 RGD:7327146 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Epha1 Eph receptor A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460840 PMID:21460841 NCBI chr 4:71,246,409...71,260,920
Ensembl chr 4:71,246,409...71,260,846 		JBrowse link
G Epha4 Eph receptor A4 ISO protein:decreased expression:hippocampus RGD PMID:19542617 PMID:19542617 RGD:6218956, RGD:6218956 NCBI chr 9:86,263,982...86,406,744
Ensembl chr 9:78,815,460...78,958,139 		JBrowse link
G Ephb2 Eph receptor B2 ameliorates ISO RGD PMID:21113149 RGD:12859080 NCBI chr 5:154,179,065...154,360,459
Ensembl chr 5:148,897,246...149,077,059 		JBrowse link
G Ephx1 epoxide hydrolase 1 ISO protein:increased expression:hippocampus RGD PMID:16630050 RGD:5688388 NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:22004348 PMID:23813967 RGD:10395389, RGD:10400882 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Epor erythropoietin receptor ISO protein:increased expression:brain, astrocyte RGD PMID:17483696 RGD:10395387 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO protein:increased expression:brain RGD PMID:9714461 RGD:5688738 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO protein:increased expression:brain RGD PMID:9714461 RGD:5688738 NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17192785 PMID:10558867 RGD:1358612 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human)
DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human)
protein:decreased expression:choroid plexus
mRNA:increased expression:cerebral cortex 		RGD PMID:17132983 PMID:15944651 PMID:15082146 PMID:15916731 RGD:5508768, RGD:8693346, RGD:5508784, RGD:5508772 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8333868 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fabp3 fatty acid binding protein 3 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15068254 RGD:1578460 NCBI chr 5:147,936,027...147,942,870
Ensembl chr 5:142,651,956...142,658,718 		JBrowse link
G Fadd Fas associated via death domain ISO RGD PMID:16085017 RGD:13782385 NCBI chr 1:209,169,245...209,175,423
Ensembl chr 1:199,739,994...199,745,653 		JBrowse link
G Fas Fas cell surface death receptor ISO DNA:snp:promoter:g.-670G>A (human)
protein:increased expression:brain, plaque (human) 		RGD PMID:11129341 PMID:12742739 RGD:1358615, RGD:8663481 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fgf1 fibroblast growth factor 1 ISO RGD PMID:20079650 RGD:5509878 NCBI chr18:30,937,670...31,023,786
Ensembl chr18:30,686,581...30,772,357 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:9748519 RGD:10402073 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fis1 fission, mitochondrial 1 ISO protein:increased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr12:25,345,239...25,360,135
Ensembl chr12:19,708,558...19,723,377 		JBrowse link
G Foxo3 forkhead box O3 ISO protein:increased expression:lymphoblast,nucleus:
protein:increased expression:hippocampal neuron (mouse)
mRNA:increased expression:brain:
protein:altered expression:cortical neuron,nucleus: 		RGD PMID:23153928 PMID:28157684 PMID:23585551 PMID:23661003 RGD:10402185, RGD:11061905, RGD:7327146, RGD:10402187 NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561 		JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO RGD PMID:19760337 RGD:13801191 NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO protein:decreased expression:cerebral cortex, soluble fraction (human) RGD PMID:14999081 PMID:15708437 RGD:1358600, RGD:1358602 NCBI chr20:44,322,635...44,514,498
Ensembl chr20:42,766,369...42,959,911 		JBrowse link
G Gabpa GA binding protein transcription factor subunit alpha ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:22491860 PMID:24691562 PMID:25741868 More... NCBI chr11:37,375,040...37,404,060
Ensembl chr11:23,888,815...23,917,605 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase onset
susceptibility 		ISO
IDA 		DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human)
protein:decreased activity:cerebral cortex, cerebellum
protein:decreased activity:cerebral cortex, hippocampus
protein:increased S-glutathionylation, decreased activity:inferior parietal cortex
DNA:SNPs, haplotypes: :rs740850, rs1060620 (human)
DNA:SNP:5' utr:rs3741916 (human) 		RGD PMID:15507493 PMID:17324518 PMID:17324518 PMID:17387692 PMID:18340469 More... RGD:1358618, RGD:13792614, RGD:13792614, RGD:13792613, RGD:13792612, RGD:13792611, RGD:13792604 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic onset ISO DNA:snps:promoter, intron: (rs4806173, rs12984928) (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17192785 PMID:15507493 RGD:1358618 NCBI chr 1:85,979,096...85,994,153
Ensembl chr 1:85,979,098...85,993,640 		JBrowse link
G Gcg glucagon ISO RGD PMID:23035082 RGD:10402366 NCBI chr 3:67,522,489...67,531,533
Ensembl chr 3:47,113,914...47,122,929 		JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment ISO mRNA, protein:alternate form, decreased expression:brain RGD PMID:22081608 PMID:30776009 RGD:5688777, RGD:405850256 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Ghrh growth hormone releasing hormone treatment ISO RGD PMID:23211425 RGD:10401233 NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:increased expression:brain
protein:increased expression, decreased oxidation:brain 		RGD PMID:16341942 PMID:16298240 RGD:6484555, RGD:6484556 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Glul glutamate-ammonia ligase ISO protein:increased oxidation:brain (human)
protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders (human) 		RGD PMID:12160938 PMID:1361232 RGD:2301427, RGD:2301429 NCBI chr13:68,519,500...68,585,554
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gnas GNAS complex locus ISO RGD PMID:8012802 RGD:10401266 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Grid2ip Grid2 interacting protein ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 NCBI chr12:11,166,567...11,203,765
Ensembl chr12:11,167,874...11,203,676 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO RGD PMID:24156266 RGD:13792688 NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO RGD PMID:24156266 RGD:13792688 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B no_association ISO DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human)
DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human)
DNA:SNP:promoter:-421C>A (rs3764028) (human)
DNA:SNP: :2664C>T (rs1806201) (human)
DNA:SNP, haplotype: :rs1806201 (human) 		RGD PMID:24156266 PMID:18303265 PMID:18983893 PMID:18983893 PMID:24292895 More... RGD:13792688, RGD:13792714, RGD:13792713, RGD:13792713, RGD:13792709, RGD:13792709 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 ISO DNA: deletion: exons 7,8: heterozygote RGD PMID:18522748 RGD:5688375 NCBI chr 1:270,014,314...270,208,294
Ensembl chr 1:260,028,242...260,218,701 		JBrowse link
G Grn granulin precursor severity
onset 		ISO DNA:SNP:3'UTR:rs5848(human)
ClinVar Annotator: match by term: Alzheimer disease
DNA:SNPs: :rs5848, rs850713, rs4792939 (human)
DNA:mutations: :
mRNA, protein:increased expression:microglia, neuron:
DNA:deletion:exon:c.154delA(human) 		ClinVar
RGD		 PMID:16199547 PMID:16862116 PMID:16950801 PMID:22608501 PMID:28492532 More... RGD:5509600, RGD:10401636, RGD:5509616, RGD:5509606, RGD:5509601 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha treatment ISO RGD PMID:18410522 PMID:22623685 RGD:10401797, RGD:10401801 NCBI chr 1:89,943,669...89,953,514
Ensembl chr 1:80,815,850...80,825,802 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO
IDA 		DNA:SNP:promoter:rs334558 (human)
CTD Direct Evidence: marker/mechanism
protein:decreased phosphorylation:hippocampus:
DNA:altered methylation:CpG island: 		CTD
RGD		 PMID:17409235 PMID:22944069 PMID:11226152 PMID:29257340 PMID:27893738 More... RGD:1302533, RGD:13792777, RGD:13792736, RGD:13782364, RGD:10401801, RGD:10045670, RGD:10045669, RGD:10045668 NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO
IEP 		protein:decreased expression:blood
mRNA:increased expression:hippocampus 		RGD PMID:17721818 PMID:21376020 PMID:19374888 PMID:10096042 RGD:10401827, RGD:10401857, RGD:10401849, RGD:10401847 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gss glutathione synthetase ISO RGD PMID:15693022 RGD:5508441 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:15621212 RGD:5688745 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO DNA:SNP:cds: rs7483 (human) RGD PMID:18423940 RGD:5688729 NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Gsto1 glutathione S-transferase omega 1 onset
susceptibility
no_association 		ISO DNA:polymorphism:exon:p. A140D (rs4925) (human) RGD PMID:14570706 PMID:20818931 PMID:15917099 RGD:1358651, RGD:5490521, RGD:5490514 NCBI chr 1:256,662,377...256,672,515
Ensembl chr 1:246,721,221...246,731,468 		JBrowse link
G Gsto2 glutathione S-transferase omega 2 onset
no_association 		ISO DDNA:polymorphism: : -183 A>G (rs2297235)(human)
DNA:polymorphism:promoter: -183 A>G (rs2297235)(human) 		RGD PMID:14570706 PMID:15917099 RGD:1358651, RGD:5490514 NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility
onset 		ISO mRNA:decreased expression:cerebral cortex
DNA:polymorphisms
DNA:polymorphism:exon: 		RGD PMID:15805147 PMID:23211594 PMID:24584466 PMID:17911365 RGD:5490123, RGD:10401913, RGD:10401912, RGD:5490271 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
onset 		ISO DNA:deletion: : RGD PMID:10215103 PMID:17911365 RGD:5490213, RGD:5490271 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO RGD PMID:15571982 RGD:10401946 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO protein:decreased expression:brain RGD PMID:25260493 RGD:10047114 NCBI chr 6:31,907,801...31,947,434
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO RGD PMID:11430884 RGD:1600786 NCBI chr 6:31,873,404...31,907,557
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 IEP RGD PMID:21428213 RGD:10450508 NCBI chr10:15,337,265...15,338,121
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hdac2 histone deacetylase 2 ISO protein:increased expression:hippocampus: RGD PMID:22388814 RGD:9590324 NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Hfe homeostatic iron regulator ISO with Tf C2 variant;DNA:missense mutation:cds:p.C282Y (human)
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer's disease
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8696333 PMID:8896550 PMID:9106528 PMID:9162021 PMID:9356458 More... RGD:1358657 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO mRNA, protein:increased expression:cerebral cortex, microvessel (human)
protein:increased expression:brain, microvessel (mouse) 		RGD PMID:16627934 PMID:21904637 RGD:9068875, RGD:9068888 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:23905994 RGD:10402058 NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17724290 RGD:5508460 NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:hippocampus, temporal cortex (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:11144356 PMID:7778849 RGD:1358658 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO protein:decreased expression:entorhinal cortex (human) RGD PMID:22628224 RGD:9999191 NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO protein:decreased expression:entorhinal cortex (human) RGD PMID:22628224 RGD:9999191 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO protein:increased expression:brain, neuron (human) RGD PMID:10661494 RGD:10412306 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 treatment ISO protein:increased expression:brain (human)
protein:increased expression:hippocampus, neuron, mitochondria 		RGD PMID:9338779 PMID:11869808 PMID:21307267 RGD:1358426, RGD:632866, RGD:13792781 NCBI chr  X:24,568,551...24,571,012
Ensembl chr  X:21,089,122...21,109,488 		JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO mRNA:altered expression:cerebellum, hippocampus (human) RGD PMID:18180323 RGD:4889108 NCBI chr17:1,032,958...1,064,283
Ensembl chr17:1,027,229...1,058,554 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO mRNA:altered expression:cerebellum, hippocampus (human) RGD PMID:18180323 RGD:4889108 NCBI chr 2:188,858,574...188,864,694
Ensembl chr 2:186,169,863...186,175,999 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO mRNA:altered expression:cerebellum, hippocampus (human) RGD PMID:18180323 RGD:4889108 NCBI chr 2:188,784,614...188,812,535
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G Hsf1 heat shock transcription factor 1 ISO
IEP 		protein:altered localization:promoter (mouse)
protein:decreased expression:cerebellum (rat) 		RGD PMID:24849358 PMID:23665061 RGD:10402385, RGD:10402771 NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO protein:decreased expression:serum (human) RGD PMID:23948885 RGD:10413860 NCBI chr 6:135,523,604...135,529,687
Ensembl chr 6:129,702,383...129,707,268 		JBrowse link
G Hspa13 heat shock protein family A (Hsp70) member 13 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:14,375,669...14,389,853
Ensembl chr11:14,373,275...14,389,895 		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 chr20:3,856,006...3,873,227 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B disease_progression ISO DNA:polymorphism: : RGD PMID:12967056 RGD:10402401 NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO RGD PMID:17050040 PMID:17050040 RGD:10402560, RGD:10402560 NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,535,798...26,554,292 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 IEP mRNA,protein:increased expression:brainstem, astrocyte: RGD PMID:25772164 RGD:10402580 NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA
ISO 		protein:increased modification:brain
protein:increased expression:mitochondrion:
protein:increased expression:cytosol, mitochondrion: 		RGD PMID:15802185 PMID:22753410 PMID:22753410 RGD:1624243, RGD:10402831, RGD:10402831 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO RGD PMID:20508993 RGD:5683632 NCBI chr 2:38,427,169...38,431,733
Ensembl chr 2:36,694,174...36,695,442 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A treatment IDA RGD PMID:26889223 RGD:401901085 NCBI chr15:56,360,647...56,428,703
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 susceptibility ISO DNA:silent mutation:cds: 267C>T (human) RGD PMID:10624811 RGD:1358662 NCBI chr 5:156,579,901...156,595,147
Ensembl chr 5:151,296,662...151,311,912 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased activity:frontal cortex (human) RGD PMID:21163861 RGD:5688722 NCBI chr 4:117,114,631...117,117,793
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:missense mutation:cds:p.K469E (human) RGD PMID:12498973 RGD:1358664 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ide insulin degrading enzyme treatment ISO
IEP
IDA 		protein:decreased expression:cerebrospinal fluid
associated with Insulin Resistance
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17192785 PMID:12634421 PMID:28157092 PMID:28164769 PMID:29948724 More... RGD:737718, RGD:13792829, RGD:13792824, RGD:13792800, RGD:13792798, RGD:13792793, RGD:13792792, RGD:13792790 NCBI chr 1:235,002,984...235,102,448
Ensembl chr 1:234,995,351...235,102,440 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment
onset
susceptibility 		ISO protein:decreased expression:hippocampus:
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
DNA:polymorphism:intron: rs972936(human)
protein:altered expression:plasma,cerebral spinal fluid: 		CTD
RGD		 PMID:15750215 PMID:23740209 PMID:10399774 PMID:24054991 PMID:23089282 More... RGD:10045852, RGD:10402576, RGD:10045860, RGD:10045854, RGD:10045853, RGD:10045853 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor treatment
severity 		ISO
IEP
IMP 		DNA: haploinsufficiency:: full knockout dies at birth
CTD Direct Evidence: marker/mechanism
protein:increased expression: cerebral cortex:
protein:increased expression:temporal cortex: 		CTD
RGD		 PMID:15750215 PMID:20409077 PMID:23562514 PMID:18479783 PMID:18479783 More... RGD:5686420, RGD:12904921, RGD:10045894, RGD:10045894, RGD:10045879, RGD:10045879, RGD:10045878 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment IEP
ISO 		mRNA:decreased expression:brain
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:15750215 PMID:16627931 PMID:24685003 PMID:21040071 PMID:24887203 RGD:5509963, RGD:10402559, RGD:10402558, RGD:10045934 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15750215 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO protein:decreased expression:temporal cortex: RGD PMID:18479783 RGD:10045894 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO protein:increased expression:serum
mRNA:decreased expression:hippocampus 		RGD PMID:23473966 PMID:10399774 PMID:24964199 RGD:10402570, RGD:10402576, RGD:10402572 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment IEP protein:increased expression:hippocampus: RGD PMID:24380241 RGD:10045941 NCBI chr16:76,021,968...76,075,717
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Il10 interleukin 10 susceptibility
treatment 		ISO DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human) RGD PMID:14746878 PMID:21803105 RGD:1358665, RGD:7364841 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1a interleukin 1 alpha susceptibility
disease_progression
no_association 		ISO protein:increased expression:microglial cell, cortical layer:
DNA:SNP:5'UTR:rs1800587(human) 		RGD PMID:10716257 PMID:9775393 PMID:11402127 PMID:19158434 RGD:1358667, RGD:10046059, RGD:10045947, RGD:10045945 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta onset
no_association
treatment 		ISO
IEP
IDA 		protein:increased expression:plasma
DNA:SNP: :rs1143634 (human)
DNA:SNP:promoter:-31T>C (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:18675847 PMID:16600299 PMID:20413850 PMID:18830724 PMID:18830724 More... RGD:1626633, RGD:13793381, RGD:13792820, RGD:13792820, RGD:13792819, RGD:11522340, RGD:13792818, RGD:13792817, RGD:13792816, RGD:7204700 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il2 interleukin 2 severity ISO protein:increased secretion:mononuclear cell: RGD PMID:8915041 PMID:8586980 RGD:10047080, RGD:10047081 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il3 interleukin 3 ISO protein:decreased expression:plasma RGD PMID:17934472 PMID:18769539 RGD:5686815, RGD:5686817 NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,405,716...38,408,066 		JBrowse link
G Il33 interleukin 33 ISS OMIM:608907 MouseDO NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter RGD PMID:20213229 RGD:10402788 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il6 interleukin 6 treatment IDA RGD PMID:27088818 RGD:11062148 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor no_association ISO protein:increased expression:cerebrospinal fluid, plasma
DNA:SNPs:promoter:-208G>A (rs4845617) (human)
DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human) 		RGD PMID:12664314 PMID:20197062 PMID:20197062 RGD:10402808, RGD:10402810, RGD:10402810 NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO protein:decreased expression:cerebrospinal fluid RGD PMID:10095017 RGD:10402847 NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Il7 interleukin 7 ISO RGD PMID:22571981 RGD:10402933 NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:94,234,766...94,280,075 		JBrowse link
G Inpp5d inositol polyphosphate-5-phosphatase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:30320580 NCBI chr 9:95,735,533...95,840,584
Ensembl chr 9:88,287,677...88,392,746 		JBrowse link
G Ins1 insulin 1 IEP mRNA:decreased expression:hippocampus RGD PMID:17448147 RGD:2298713 NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 IEP
ISO 		mRNA:decreased expression:cerebral cortex
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:9443474 PMID:15750215 PMID:17448147 RGD:2298713 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insr insulin receptor treatment ISO
IEP 		CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:brain
protein:altered localization:brain, neuron 		CTD
RGD		 PMID:24055495 PMID:23011726 PMID:16627931 PMID:18479783 RGD:10403036, RGD:5509963, RGD:10045894 NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Iqck IQ motif containing K ISO CTD Direct Evidence: marker/mechanism CTD PMID:30820047 NCBI chr 1:173,199,308...173,316,982
Ensembl chr 1:173,199,316...173,316,984 		JBrowse link
G Ireb2 iron responsive element binding protein 2 ISO DNA:SNPs: :rs2656070, rs13180(human) RGD PMID:16914832 RGD:6893299 NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611 		JBrowse link
G Irs1 insulin receptor substrate 1 treatment
severity 		ISO
IEP 		protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1
protein:decreased expression:hippocampus:
DNA:SNP:cds:rs1801278(human)
protein:altered expression:temporal cortex:
protein:increased serine phosphorylation:hippocampus 		RGD PMID:22476197 PMID:23011726 PMID:22527777 PMID:23660953 PMID:24589556 More... RGD:6482860, RGD:10403036, RGD:10045939, RGD:10045935, RGD:10045932, RGD:10045894, RGD:6482861 NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Irs2 insulin receptor substrate 2 severity ISO mRNA:decreased expression:hippocampus:
protein:decreased expression:temporal cortex: 		RGD PMID:19487308 PMID:24887203 PMID:18479783 RGD:10045878, RGD:10045934, RGD:10045894 NCBI chr16:85,190,310...85,214,543
Ensembl chr16:78,485,045...78,512,482 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO protein:decreased expression:temporal cortex, frontal cortex (human) RGD PMID:8819138 RGD:6482821 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:18813209 RGD:10403051 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Jam2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr11:23,830,820...23,880,071
Ensembl chr11:23,831,106...23,880,063 		JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO mRNA, protein:decreased expression:neocortex (mouse) RGD PMID:21912965 RGD:9686062 NCBI chr 1:96,902,953...96,944,744
Ensembl chr 1:96,902,953...96,944,744 		JBrowse link
G Kcnc4 potassium voltage-gated channel subfamily C member 4 ISO mRNA:decreased expression:neocortex (mouse)
mRNA, protein:increased expression: frontal cortex 		RGD PMID:21912965 PMID:15485486 RGD:9686062, RGD:10411900 NCBI chr 2:195,063,967...195,100,244
Ensembl chr 2:195,071,769...195,099,233 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 onset ISO DNA:SNP: :rs16934131 (human) RGD PMID:21480501 RGD:10412025 NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198 		JBrowse link
G Kl Klotho treatment ISO mRNA,protein:decreased expression:cerebral choroid,serum: RGD PMID:23973442 RGD:10403049 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080 		JBrowse link
G Klc1 kinesin light chain 1 susceptibility ISO DNA:SNPs: :rs8007903, rs3212079 (human)
DNA:SNP:intron:56836G>C (human) 		RGD PMID:19911314 PMID:15364413 RGD:5683908, RGD:5684007 NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031 		JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12480753 PMID:12074831 RGD:1358604, RGD:1358599 NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121 		JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM ClinVar PMID:1370808 PMID:1717945 PMID:9697696 PMID:9811940 PMID:15023809 More... NCBI chr 4:155,455,465...155,467,301
Ensembl chr 4:155,455,495...155,467,424 		JBrowse link
G L1cam L1 cell adhesion molecule ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16298234 RGD:6483456 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Ldlr low density lipoprotein receptor no_association ISO DNA:SNPs:exon:rs5925, rs5927, rs5930 (human)
DNA:SNPs:exon (human)
DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human)
DNA:SNPs: :rs5925, rs2738444, rs11669576 (human) 		RGD PMID:21755005 PMID:15585340 PMID:16378661 PMID:15689450 PMID:16741934 More... RGD:5490231, RGD:5490244, RGD:5490243, RGD:5490242, RGD:5490241, RGD:5490239 NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Lep leptin treatment IDA
ISO 		associated with Obesity
CTD Direct Evidence: therapeutic
compared to cortisol;protein:altered expression:plasma (human) 		CTD
RGD		 PMID:20157255 PMID:25296496 PMID:9755363 RGD:10053617, RGD:10053632 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lipc lipase C, hepatic type no_association ISO DNA:SNPs: :rs6074, rs6083, rs6084 (human)
DNA:SNPs: :rs6084 (human) 		RGD PMID:17175070 PMID:17175070 RGD:1600644, RGD:1600644 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lipi lipase I ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:14,189,323...14,228,992
Ensembl chr11:14,189,323...14,228,985 		JBrowse link
G Lpl lipoprotein lipase no_association
severity 		ISO DNA:point mutations: :p.N291S, p.S447X (human)
DNA:polymorphism:intron
DNA:SNPs: :rs268, rs328 (human)
DNA:SNPs: :multiple
DNA, mRNA:SNP, decreased expression: :rs285 (human) 		RGD PMID:24004859 PMID:10206232 PMID:12133567 PMID:15331147 PMID:16013913 More... RGD:13793392, RGD:13799353, RGD:13793397, RGD:13793396, RGD:5685661, RGD:13793395, RGD:13793393 NCBI chr16:25,596,205...25,621,928
Ensembl chr16:20,829,465...20,855,249 		JBrowse link
G Lrp1 LDL receptor related protein 1 treatment ISO
IEP
ISS 		DNA:SNP:exon 3:C>T (human)
OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 		MouseDO
RGD		 PMID:9635959 PMID:19150622 PMID:29115637 RGD:1358747, RGD:13800553, RGD:13799352 NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Lrp1b LDL receptor related protein 1B onset ISO mRNA:increased expression:hippocampus (mouse) RGD PMID:23150673 RGD:151665140 NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Lrp8 LDL receptor related protein 8 no_association ISO DNA:polymorphism:exon:2622T>C (human)
DNA:polymorphisms: :multiple 		RGD PMID:12399018 PMID:20208369 RGD:6483064, RGD:6483065 NCBI chr 5:122,563,468...122,635,434
Ensembl chr 5:122,563,453...122,631,352 		JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 onset ISO RGD PMID:11425005 RGD:1358749 NCBI chr14:79,876,002...79,888,011
Ensembl chr14:75,651,376...75,665,414 		JBrowse link
G Maoa monoamine oxidase A ISO RGD PMID:1627256 RGD:10046060 NCBI chr  X:8,615,239...8,681,372
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7816197 PMID:21075085 PMID:1627256 RGD:10046060 NCBI chr  X:8,490,405...8,594,065
Ensembl chr  X:5,907,266...6,011,003 		JBrowse link
G Map2 microtubule-associated protein 2 IDA RGD PMID:22083255 RGD:6483322 NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment
onset 		ISO mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron RGD PMID:28079060 PMID:24334724 RGD:13800563, RGD:13800868 NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mapk10 mitogen activated protein kinase 10 ISO protein:increased expression:CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chr14:6,802,247...7,094,103
Ensembl chr14:6,497,707...6,786,201 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 treatment IEP
ISO 		mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat) RGD PMID:20529587 PMID:17784957 RGD:10047076, RGD:10047104 NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 treatment ISO RGD PMID:28079060 RGD:13800563 NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 disease_progression ISO protein:increased expression:brain,CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO protein:increased expression:brain,CA1 field of hippocampus: RGD PMID:11208906 RGD:10412676 NCBI chr10:34,670,750...34,711,972
Ensembl chr10:34,169,675...34,210,178 		JBrowse link
G Mapt microtubule-associated protein tau treatment
onset
no_association 		ISO
IDA 		protein:increased expression:CSF (human)
ClinVar Annotator: match by term: Alzheimer disease
CTD Direct Evidence: marker/mechanism
protein:hyperphosphorylation:brain:
DNA:mutation:cds:p.R406W(human)
DNA:SNP, haplotypes:promoter:rs242557 (human)
DNA:SNPs, haplotypes:promoter:rs242557 (human) 		ClinVar
CTD
RGD		 PMID:12852432 PMID:14517953 PMID:15750215 PMID:20157255 PMID:21715663 More... RGD:1302530, RGD:127284889, RGD:13800908, RGD:13800904, RGD:13782165, RGD:10412709, RGD:10412704, RGD:10412701, RGD:8158105, RGD:8158097 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO protein:decreased expression:cerebrospinal fluid (human)
DNA:haplotype:promoter: 		RGD PMID:9631454 PMID:23348713 RGD:4889155, RGD:12910848 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G Mcm2 minichromosome maintenance complex component 2 ISO RGD PMID:19946466 PMID:17070803 RGD:10412048, RGD:10412050 NCBI chr 4:122,903,679...122,918,205
Ensembl chr 4:121,346,434...121,360,847 		JBrowse link
G Mdm4 MDM4 regulator of p53 disease_progression ISO RGD PMID:23861893 RGD:10047419 NCBI chr13:46,922,236...47,068,241
Ensembl chr13:44,406,213...44,474,226 		JBrowse link
G Mfn1 mitofusin 1 ISO protein:decreased expression:hippocampus (human) RGD PMID:19605646 RGD:7800727 NCBI chr 2:117,240,525...117,288,017
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Mfn2 mitofusin 2 ISO
IEP 		protein:decreased expression:hippocampus (human)
protein:increased expression:hippocampus (rat) 		RGD PMID:19605646 PMID:28302704 RGD:7800727, RGD:12910737 NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mir100 microRNA 100 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304 		JBrowse link
G Mir124-3 microRNA 124-3 ISO CTD Direct Evidence: therapeutic CTD PMID:28867212 NCBI chr 3:188,392,522...188,392,608
Ensembl chr 3:168,014,952...168,015,038 		JBrowse link
G Mir125b2 microRNA 125b-2 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:29,732,572...29,732,659 JBrowse link
G Mir132 microRNA 132 ISO RNA:decreased expression:brain RGD PMID:23585551 RGD:7327146 NCBI chr10:60,522,033...60,522,133
Ensembl chr10:60,023,696...60,023,796 		JBrowse link
G Mir146a microRNA 146a ISO CTD Direct Evidence: marker/mechanism CTD PMID:22099153 PMID:25992776 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610 		JBrowse link
G Mir155 microRNA 155 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir212 microRNA 212 ISO RNA:decreased expression:brain RGD PMID:23585551 RGD:7327146 NCBI chr10:60,521,740...60,521,850
Ensembl chr10:60,023,403...60,023,513 		JBrowse link
G Mir296 microRNA 296 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr 3:163,051,838...163,051,915
Ensembl chr 3:163,051,838...163,051,915 		JBrowse link
G Mir375 microRNA 375 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985 		JBrowse link
G Mir708 microRNA 708 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25992776 NCBI chr 1:150,599,876...150,599,963
Ensembl chr 1:150,599,876...150,599,963 		JBrowse link
G Mir99a microRNA 99a ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:29,687,392...29,687,472
Ensembl chr11:16,200,443...16,200,523 		JBrowse link
G Mirlet7c1 microRNA let-7c-1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:16,201,163...16,201,256
Ensembl chr11:16,201,158...16,201,265 		JBrowse link
G Mme membrane metallo-endopeptidase treatment
no_association
severity
onset 		ISS
ISO
IEP 		OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907
associated with Endotoxemia
DNA:SNPs, repeat:multiple:multiple
DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human)
DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human)
DNA:SNPs, repeats, deletion:promoter:multiple
DNA:repeats
DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human)
DNA:SNPs: :multiple
DNA:SNP: :rs6797911 (human)
DNA:SNP:3' utr:rs6665 (human) 		MouseDO
RGD		 PMID:25416980 PMID:25884928 PMID:20141738 PMID:17928142 PMID:17928142 More... RGD:13801033, RGD:13801034, RGD:13801024, RGD:13801023, RGD:13801023, RGD:13801022, RGD:13801021, RGD:13801020, RGD:1600813, RGD:13801019, RGD:13801012, RGD:13801011, RGD:13801011, RGD:13801010, RGD:13801009 NCBI chr 2:149,806,826...149,957,381
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:decreased expression:platelet RGD PMID:21875409 RGD:10059680 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:17697439 RGD:7207052 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, susceptibility to 		CTD
ClinVar		 PMID:11087769 PMID:12915675 PMID:15023809 PMID:17304047 PMID:25741868 NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15337312 RGD:2317734 NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
G Mrpl39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 PMID:25741868 NCBI chr11:23,779,655...23,795,146
Ensembl chr11:23,779,662...23,795,125 		JBrowse link
G Mrtfa myocardin related transcription factor A IEP protein:altered expression:brain cortex RGD PMID:27387387 RGD:596933302 NCBI chr 7:112,544,305...112,714,418
Ensembl chr 7:112,544,312...112,714,418 		JBrowse link
G Ms4a4a membrane spanning 4-domains A4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21460841 NCBI chr 1:208,060,507...208,085,121
Ensembl chr 1:208,046,971...208,085,119 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO mRNA:decreased expression:frontal cortex, Brodmann area 9 (human)
ClinVar Annotator: match by term: Alzheimer disease 		ClinVar
RGD		 PMID:8104867 PMID:15972314 PMID:15075441 RGD:5490287 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 no_association ISO DNA:mutation::m.5460G>A (human) RGD PMID:1352971 PMID:1370613 RGD:5507833, RGD:5507834 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO mRNA:decreased expression:brain RGD PMID:10447460 RGD:5508713 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt1 metallothionein 1 ISO RGD PMID:22766972 RGD:10412319 NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
Ensembl chr  X:10,826,032...10,827,049 		JBrowse link
G Mt2 metallothionein 2 ISO
IEP 		mRNA:decreased expression:cerebral cortex (rat) RGD PMID:22766972 PMID:16914836 RGD:10412319, RGD:10412320 NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Mt3 metallothionein 3 ISO mRNA:decreased expression:brain
mRNA:increased expression:brain 		RGD PMID:1464312 PMID:10595827 PMID:16444595 PMID:19619132 RGD:6480485, RGD:9685805, RGD:6480619, RGD:6480534 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17192785 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO RGD PMID:14557245 RGD:2302388 NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371 		JBrowse link
G Napb NSF attachment protein beta ISO protein:decreased expression:temporal cortex RGD PMID:11244216 RGD:10412652 NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345 		JBrowse link
G Nbn nibrin ISO RGD PMID:15337312 RGD:2317734 NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP RGD PMID:31028587 RGD:40925918 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014 		JBrowse link
G Ncam2 neural cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:20,104,974...20,592,168
Ensembl chr11:20,104,925...20,591,984 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO protein:altered localization RGD PMID:10873554 RGD:2314452 NCBI chr13:67,505,492...67,536,015
Ensembl chr13:64,955,503...64,986,277 		JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr 9:53,206,006...53,332,417
Ensembl chr 9:45,714,883...45,840,307 		JBrowse link
G Ncstn nicastrin no_association
onset 		ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple
DNA:missense mutation: :417N>Y (human)
DNA:SNPs, haplotype:introns:multiple
protein:increased modification:brain
DNA:SNP:promoter:-436C>T (human)
DNA:SNPs:promoter:-796T>G, -1216C>A (human)
DNA:SNP:promoter:-922G>T (rs10752637) (human) 		CTD
RGD		 PMID:17192785 PMID:14642438 PMID:23595812 PMID:11992262 PMID:11992262 More... RGD:13801188, RGD:13801187, RGD:13801052, RGD:13801052, RGD:13801051, RGD:13801050, RGD:13801050, RGD:13801049, RGD:13801048 NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454 		JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO RGD PMID:28474567 RGD:13792588 NCBI chr18:28,629,795...28,631,884
Ensembl chr18:28,355,774...28,358,076 		JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 ISO RGD PMID:19760337 RGD:13801191 NCBI chr 4:53,962,877...53,971,235
Ensembl chr 4:52,995,546...53,005,598
Ensembl chr 5:52,995,546...53,005,598 		JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO mRNA:increased expression:blood RGD PMID:26943237 RGD:11572212 NCBI chr 7:115,746,460...115,750,317
Ensembl chr 7:113,866,382...113,870,239 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO RGD PMID:28474567 RGD:13792588 NCBI chr 9:67,623,417...67,633,629
Ensembl chr 9:60,129,154...60,139,446 		JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 ISO RGD PMID:14570706 RGD:1358651 NCBI chr 1:253,357,878...253,362,936
Ensembl chr 1:243,408,619...243,413,817 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 onset ISO RGD PMID:28242297 RGD:13824970 NCBI chr 3:97,332,477...97,339,654
Ensembl chr 3:76,876,646...76,883,824 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO DNA:SNP: :rs6859 (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:29107063 PMID:30319691 PMID:30320580 PMID:22159054 RGD:6484658 NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29368621 PMID:29391125 RGD:127284889, RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Nefm neurofilament medium chain ISO protein:decreased glycosylation:cerebral cortex RGD PMID:17687114 RGD:9743945 NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 onset
treatment 		ISO
IEP 		DNA:snps, haplotype:5' utr, intron:multiple (human)
protein:increased expression:brain, nucleus 		RGD PMID:20064547 PMID:19805328 PMID:22913737 PMID:23771816 RGD:6893326, RGD:10412689, RGD:10412685, RGD:10412683 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Ngb neuroglobin treatment IEP RGD PMID:23428737 RGD:9743955 NCBI chr 6:106,744,378...106,749,830
Ensembl chr 6:106,744,378...106,749,830 		JBrowse link
G Ngf nerve growth factor IEP RGD PMID:21368378 RGD:5144128 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ngfr nerve growth factor receptor treatment
no_association 		ISO
IEP 		protein:altered localization:brain
protein:altered expression:urine
protein:decreased expression:basal nucleus of telencephalon, neuron
DNA:SNPs, haplotypes: :multiple
DNA:SNP:CDS:rs2072446 (human) 		RGD PMID:19334058 PMID:2557638 PMID:23545424 PMID:19070649 PMID:8215963 More... RGD:5508225, RGD:10414073, RGD:10413895, RGD:10413894, RGD:10413893, RGD:10413892, RGD:10413891, RGD:5508228 NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nog noggin ISO RGD PMID:19463786 RGD:10414082 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
G Nos1 nitric oxide synthase 1 susceptibility
no_association 		ISO DNA:repeat:promoter
DNA:repeat:exon
DNA:SNP:exon:-84G>A (human) 		RGD PMID:21098972 PMID:12384247 PMID:10964481 PMID:17418914 PMID:17418914 RGD:13824974, RGD:13824978, RGD:13824976, RGD:13824975, RGD:13824975 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos2 nitric oxide synthase 2 IDA
ISO 		RGD PMID:21163295 PMID:12384247 PMID:16908860 RGD:4891161, RGD:13824978, RGD:5508721 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 onset ISO human gene in rat model
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:p.E298D (human) 		ClinVar
CTD
RGD		 PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More... RGD:2292144, RGD:13824978, RGD:1358752 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Npy neuropeptide Y treatment IEP
ISO 		CTD Direct Evidence: marker/mechanism
protein:decreased expression:plasma 		CTD
RGD		 PMID:11709213 PMID:22266216 PMID:8592643 RGD:10431479, RGD:10432246 NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Nrg1 neuregulin 1 disease_progression ISO
IDA 		protein:decreased expression:hippocampus RGD PMID:12528817 PMID:29914798 PMID:27558862 PMID:29295823 RGD:10449002, RGD:13703135, RGD:405650194, RGD:41404730 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Nrgn neurogranin ISO RGD PMID:9329454 RGD:9835394 NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516 		JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761 		JBrowse link
G Nrp1 neuropilin 1 severity ISO mRNA,protein:increased expression:brain RGD PMID:34745215 PMID:34745215 RGD:401901163, RGD:401901163 NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633 		JBrowse link
G Ntf3 neurotrophin 3 ISO DNA:missense mutation:cds:p.G63E (human) RGD PMID:9502217 RGD:1358754 NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Ntn1 netrin 1 treatment ISO RGD PMID:30066400 RGD:13782183 NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO early onset sporadic AD; DNA:SNP:CDS:rs6336 (human)
mRNA:decreased expression:brain 		RGD PMID:18780967 PMID:21397006 RGD:5508228, RGD:5684531 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 treatment ISO
IEP 		sporadic AD; DNA:SNP:intron:rs2289656 (human) RGD PMID:18780967 PMID:33352241 PMID:24877042 PMID:21900882 RGD:5508228, RGD:597015751, RGD:10059402, RGD:5684548 NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Nudt1 nudix hydrolase 1 ISO protein:decreased expression:hippocampus RGD PMID:21538080 RGD:10449033 NCBI chr12:19,416,411...19,423,448
Ensembl chr12:14,302,694...14,305,826 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO protein:decreased expression:brain RGD PMID:19605646 RGD:7800727 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO protein:altered localization RGD PMID:18347024 RGD:2299169 NCBI chr 1:161,522,399...161,637,623
Ensembl chr 1:152,111,188...152,226,383 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 susceptibility ISO protein:increased activity:brain:
DNA:haplotypes:cds:rs1136410,rs1805404 (human)
DNA:haplotypes: : 		RGD PMID:22051244 PMID:21616968 PMID:20486200 PMID:17290104 RGD:5510011, RGD:10413888, RGD:10413887, RGD:10413885 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pawr pro-apoptotic WT1 regulator ISO mRNA,protein:increased expression:brain: RGD PMID:9701251 RGD:9835364 NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028 		JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease 		CTD
ClinVar		 PMID:19136949 PMID:29476165 NCBI chr  X:86,058,348...86,751,078
Ensembl chr  X:86,058,394...86,747,036 		JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 disease_progression ISO DNA:SNPs
DNA:SNP: :rs8192708(human) 		RGD PMID:17440948 PMID:20574532 RGD:2311642, RGD:10427727 NCBI chr 3:182,348,572...182,354,521
Ensembl chr 3:161,930,256...161,936,191 		JBrowse link
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 ISO mRNA:increased expression:cerebral cortex: RGD PMID:8736634 RGD:10448277 NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO RGD PMID:14746899 RGD:1642360 NCBI chr  X:17,251,963...17,255,405
Ensembl chr  X:14,580,038...14,583,566 		JBrowse link
G Pde2a phosphodiesterase 2A treatment ISO RGD PMID:22771768 RGD:10449025 NCBI chr 1:165,235,623...165,327,466
Ensembl chr 1:155,813,180...155,915,434 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:22279551 RGD:10449445 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pebp1 phosphatidylethanolamine binding protein 1 onset ISO mRNA:decreased expression:hippocampus RGD PMID:15941609 PMID:11853019 PMID:7770119 PMID:10210891 RGD:2302869, RGD:2302863, RGD:2302735, RGD:2302864 NCBI chr12:44,946,307...44,967,890
Ensembl chr12:39,302,840...39,307,862 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25390692 NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682 		JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO mRNA: splice variants RGD PMID:20590401 RGD:6483097 NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289 		JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19734902 PMID:21460841 NCBI chr 1:144,056,415...144,138,045
Ensembl chr 1:144,056,721...144,137,557 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:20025958 RGD:6482689 NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 onset ISO DNA:polymorphism: :p.M326I (human) RGD PMID:12185156 RGD:1625215 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pilra paired immunoglobin-like type 2 receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr12:17,787,169...17,798,149
Ensembl chr12:17,787,127...17,798,094 		JBrowse link
G Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISS OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 MouseDO NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785 		JBrowse link
G Plau plasminogen activator, urokinase no_association ISO
ISS 		ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple
mRNA:increased expression:brain 		MouseDO
ClinVar
CTD
RGD		 PMID:12898287 PMID:15615772 PMID:15616835 PMID:16341549 PMID:28492532 More... RGD:6483793, RGD:6484115, RGD:6483807, RGD:6483794 NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Plcb1 phospholipase C beta 1 ISS
ISO 		OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 MouseDO
RGD		 PMID:8534418 RGD:13825140 NCBI chr 3:142,512,765...143,224,042
Ensembl chr 3:122,060,031...122,772,869 		JBrowse link
G Plcd1 phospholipase C, delta 1 ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar
RGD		 PMID:25741868 PMID:8534418 RGD:13825140 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO RGD PMID:8534418 RGD:13825140 NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28714976 NCBI chr19:62,456,196...62,592,684
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
G Pnmt phenylethanolamine-N-methyltransferase onset ISO DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) RGD PMID:11378842 RGD:5130171 NCBI chr10:83,383,019...83,386,557
Ensembl chr10:83,384,923...83,386,556 		JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:multiple SNPs (human) RGD PMID:16319130 RGD:5509926 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.C311S (human)
DNA:SNPs:multiple 		RGD PMID:11803456 PMID:16319130 RGD:1580219, RGD:5509926 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248 		JBrowse link
G Pon3 paraoxonase 3 ISO DNA:polymorphisms:multiple SNPs (human) RGD PMID:16319130 RGD:5509926 NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855 		JBrowse link
G Poted POTE ankyrin domain family member D ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr17:57,942,124...57,975,149
Ensembl chr17:57,942,162...57,975,654 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha no_association ISO DNA:SNP:CDS:rs1800206, p.L162V (human)
No association found for any polymorphisms of PPARA, including rs1800206 (human) 		RGD PMID:12938026 PMID:17850927 RGD:5561899, RGD:5561928 NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma no_association
susceptibility 		ISO DNA:SNPs: :multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:cds:p.P12A(human) 		CTD
RGD		 PMID:15993441 PMID:16407166 PMID:30328325 PMID:18573313 PMID:17440948 RGD:2301852, RGD:2311642 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha disease_progression ISO
IDA 		mRNA, protein:decreased expression:hippocampal formation (human) RGD PMID:22540007 PMID:22510382 PMID:19273754 RGD:6484260, RGD:7242180, RGD:7242017 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B severity ISO protein:decreased expression:cerebral cortex (mouse)
protein:decreased expression:brain, synaptosome (human) 		RGD PMID:23764848 PMID:23764848 RGD:10043802, RGD:10043802 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083 		JBrowse link
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta ISO DNA:repeat RGD PMID:21029765 RGD:5686295 NCBI chr18:34,904,686...35,357,299
Ensembl chr18:34,653,721...35,081,025 		JBrowse link
G Ppp3r1 protein phosphatase 3, regulatory subunit B, alpha disease_progression ISO DNA:SNP: :rs1868402 (human) RGD PMID:23727081 PMID:21223993 RGD:13830878, RGD:13830879 NCBI chr14:95,758,333...95,808,015
Ensembl chr14:91,604,121...91,606,907 		JBrowse link
G Prkcb protein kinase C, beta ISO RGD PMID:8534418 RGD:13825140 NCBI chr 1:186,263,397...186,594,743
Ensembl chr 1:176,832,226...177,163,536 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase treatment ISO protein:increased expression:vessel,astrocyte: RGD PMID:24105468 PMID:19716418 RGD:10412735, RGD:10412736 NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to 		CTD
ClinVar		 PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More... NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
G Psen1 presenilin 1 ISO
ISS 		DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease | ClinVar Annotator: match by term: Familial Alzheimer disease
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:7596406 PMID:7651536 PMID:8773614 PMID:9007097 PMID:9384602 More... RGD:1302519, RGD:13782044 NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Psen2 presenilin 2 severity ISO DNA:missense mutation:cds:p.N141I (human)
ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.N141I, p.M239V (human) 		ClinVar
RGD
CTD		 PMID:7186461 PMID:9050898 PMID:9384602 PMID:10976645 PMID:11723295 More... RGD:9743900, RGD:9743900, RGD:1302522 NCBI chr13:94,499,451...94,528,419
Ensembl chr13:91,967,983...91,993,174 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:22044482 RGD:6483525 NCBI chr 2:56,061,699...56,074,594
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IMP
ISO 		protein:increased expression:cerebral cortex RGD PMID:21701788 PMID:10560656 PMID:20157512 RGD:5688147, RGD:5688249, RGD:5688156 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
ISO 		mRNA:decreased expression:neocortex, hippocampus RGD PMID:21701788 PMID:8892355 PMID:9740394 RGD:5688147, RGD:5688254, RGD:5688252 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr15:44,536,275...44,656,754
Ensembl chr15:40,360,723...40,481,282 		JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 severity ISO protein:increased expression:prefrontal cortex (human)
protein:increased expression:dentate gyrus (mouse) 		RGD PMID:20427654 PMID:16237174 PMID:20956308 RGD:9835008, RGD:10044037, RGD:9835007 NCBI chr 1:106,756,896...106,817,369
Ensembl chr 1:97,620,642...97,679,882 		JBrowse link
G Pyy peptide YY ISO CTD Direct Evidence: marker/mechanism CTD PMID:11709213 NCBI chr10:87,561,347...87,562,470
Ensembl chr10:87,061,161...87,061,815 		JBrowse link
G Rbm11 RNA binding motif protein 11 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:14,234,851...14,244,092
Ensembl chr11:14,234,890...14,244,090 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO RGD PMID:11483593 RGD:1580889 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045 		JBrowse link
G Reg1a regenerating family member 1 alpha ISO mRNA:increased expression:brain (human) RGD PMID:2394826 RGD:9850119 NCBI chr 4:112,450,466...112,453,130
Ensembl chr 4:110,892,453...110,895,570 		JBrowse link
G Reln reelin ISO protein:increased expression:cerebrospinal fluid (human)
protein: increased expression: brain
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:20610758 PMID:12645087 PMID:20025970 RGD:729771, RGD:13207521 NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:12,736,130...13,162,211 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO RGD PMID:21473952 RGD:5147563 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO associated with Down Syndrome RGD PMID:20946940 RGD:6482829 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G S100b S100 calcium binding protein B severity ISO
IEP 		protein:decreased expression:cerebrospinal fluid RGD PMID:21080947 PMID:19705461 PMID:20105309 PMID:20953641 RGD:5508775, RGD:5508798, RGD:5508787, RGD:5508780 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Samsn1 SAM domain, SH3 domain and nuclear localization signals, 1 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:14,484,523...14,534,900
Ensembl chr11:14,483,893...14,534,900 		JBrowse link
G Sell selectin L severity ISO protein:decreased expression:plasma RGD PMID:21484243 RGD:5685677 NCBI chr13:78,950,100...78,969,604
Ensembl chr13:76,416,915...76,436,456 		JBrowse link
G Selp selectin P severity ISO protein:decreased expression:plasma RGD PMID:21484243 RGD:5685677 NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Serpine2 serpin family E member 2 ISO RGD PMID:2813392 RGD:2317937 NCBI chr 9:88,573,138...88,637,252
Ensembl chr 9:81,124,804...81,188,826 		JBrowse link
G Serpinf1 serpin family F member 1 IDA
ISO 		protein:increased expression:cerebrospinal fluid, serum (human) RGD PMID:17073149 PMID:28320113 RGD:2312353, RGD:27226702 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO protein:increased phosphorylation:neuron RGD PMID:15837797 RGD:1643185 NCBI chr 2:177,135,649...177,147,257
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G Sirt1 sirtuin 1 treatment ISO protein:increased expression:forebrain (mouse) RGD PMID:17581637 PMID:16751189 RGD:2290573, RGD:10047116 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Sirt3 sirtuin 3 ISO mRNA:increased expression:brain RGD PMID:23139766 RGD:9586045 NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:frontal association cortex
mRNA:decreased expression:cerebral cortex 		RGD PMID:21743130 PMID:21333939 RGD:5686430, RGD:5686673 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Slc1a2 solute carrier family 1 member 2 treatment IEP RGD PMID:38078339 RGD:597830179 NCBI chr 3:109,460,109...109,590,445
Ensembl chr 3:89,005,129...89,126,498 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:21958963 RGD:9681463 NCBI chr16:52,805,521...52,809,316
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:8179300 RGD:2313620 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO RGD PMID:8179300 RGD:2313620 NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24055495 NCBI chr10:55,164,721...55,170,289
Ensembl chr10:54,666,015...54,671,565 		JBrowse link
G Slc30a4 solute carrier family 30 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580781 NCBI chr 3:130,206,852...130,228,888
Ensembl chr 3:109,753,273...109,775,306 		JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580781 NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785 		JBrowse link
G Slc8a1 solute carrier family 8 member A1 ISO protein:altered expression:synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr 6:13,194,609...13,547,369
Ensembl chr 6:13,194,662...13,535,628 		JBrowse link
G Slc8a2 solute carrier family 8 member A2 ISO protein:altered expression:synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr 1:76,816,583...76,852,928
Ensembl chr 1:76,808,725...76,847,072 		JBrowse link
G Slc8a3 solute carrier family 8 member A3 ISO protein:altered expression:parietal cortex, synaptosome: RGD PMID:21382638 RGD:13628395 NCBI chr 6:100,874,359...101,007,989
Ensembl chr 6:100,874,369...101,007,508 		JBrowse link
G Snap91 synaptosome associated protein 91 ISO protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces:
denntate gyrus, hippocampus, entorhinal cortex 		RGD PMID:20847448 PMID:20847448 RGD:13506238, RGD:13506238 NCBI chr 8:87,738,056...87,852,690
Ensembl chr 8:87,738,824...87,852,367 		JBrowse link
G Snca synuclein alpha ISO human gene in a mouse model
protein:increased expression:cerebrospinal fluid 		RGD PMID:11572944 PMID:18577885 RGD:1302528, RGD:6478792 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO mRNA:decreased expression:brain RGD PMID:11578596 RGD:6480194 NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,846,802...9,855,012 		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 chr16:9,700,514...9,705,368 		JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO protein:increased expression:cerebral cortex (human) RGD PMID:24023061 RGD:10448959 NCBI chr 1:104,992,518...105,012,851
Ensembl chr 1:95,856,036...95,876,392 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO protein:increased expression:cerebral cortex (human) RGD PMID:24023061 RGD:10448959 NCBI chr 1:91,609,419...91,618,119
Ensembl chr 1:82,481,770...82,490,538 		JBrowse link
G Sod1 superoxide dismutase 1 ISO
IEP 		mRNA:altered expression:hippocampus, hypothalamus (rat)
protein:decreased expression:frontal lobe (human) 		RGD PMID:22072713 PMID:20027333 PMID:22072713 RGD:8655610, RGD:8657017, RGD:8655610 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19374891 PMID:16369462 RGD:1579972 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO RGD PMID:15313836 RGD:1581303 NCBI chr 8:51,238,713...51,401,458
Ensembl chr 8:42,341,704...42,504,513 		JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO protein:decreased expression:parietal cortex (human) RGD PMID:9743567 RGD:1581317 NCBI chr 3:126,685,017...126,697,957
Ensembl chr 3:106,231,444...106,244,119 		JBrowse link
G Spred2 sprouty-related, EVH1 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr14:98,350,577...98,452,143
Ensembl chr14:94,148,837...94,249,162 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:decreased tyrosine phosphorylation:dentate gyrus
protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus 		RGD PMID:18813209 PMID:18813209 RGD:10403051, RGD:10403051 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stox1 storkhead box 1 severity ISO protein:increased expression:CA4 field of hippocampus (human) RGD PMID:20110611 RGD:11554028 NCBI chr20:31,140,993...31,209,126
Ensembl chr20:30,598,168...30,666,939 		JBrowse link
G Syp synaptophysin ISO
IEP 		protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces:
mRNA,protein:decreased expression:hippocampus, temporal cortex
denntate gyrus, hippocampus, entorhinal cortex 		RGD PMID:20847448 PMID:20847448 PMID:20847448 RGD:13506238, RGD:13506238, RGD:13506238 NCBI chr  X:17,521,348...17,536,449
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNP: :(rs241448)(human) RGD PMID:16595160 RGD:6482265 NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Tardbp TAR DNA binding protein ISO protein:increased expression, phosphorylation:motor cortex
protein:increased expression:brain 		RGD PMID:21376022 PMID:21070634 RGD:5687139, RGD:5687178 NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tbp TATA box binding protein ISO protein:increased expression:hippocampus, entorhinal cortex (human) RGD PMID:15193429 RGD:5684338 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase treatment ISO RGD PMID:27190010 RGD:13601984 NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511 		JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Transferrin variant C1/C2 		CTD
ClinVar		 PMID:9272172 PMID:15060098 PMID:17192785 PMID:20029940 PMID:25741868 More... NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
G Tfam transcription factor A, mitochondrial susceptibility ISO DNA:SNP: :rs1937 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) 		CTD
RGD		 PMID:17192785 PMID:21799244 PMID:17537576 RGD:6767575, RGD:6771185 NCBI chr20:17,355,373...17,367,422
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15760641 RGD:5685018 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:16157451 RGD:1580680 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tmed10 transmembrane p24 trafficking protein 10 ISO protein:decreased expression:brain cortex (human) RGD PMID:18652896 RGD:2317276 NCBI chr 6:104,991,843...105,026,705
Ensembl chr 6:104,991,838...105,026,753 		JBrowse link
G Tmprss15 transmembrane serine protease 15 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:31,164,633...31,289,143
Ensembl chr11:17,677,741...17,802,255 		JBrowse link
G Tnf tumor necrosis factor no_association
onset
susceptibility 		ISO DNA:polymorphism:promoter:multiple(human)
DNA:polymorphism:promoter:-308G>A(human)
protein:decreased expression:brain:
DNA:haploltype:promoter:-863A>C,-308G>A(human)
protein:increased secretion:serum:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, protection against 		CTD
ClinVar
RGD		 PMID:10400991 PMID:16908746 PMID:17192785 PMID:12962917 PMID:18834925 More... RGD:1580320, RGD:13825257, RGD:13825256, RGD:13825255, RGD:13825253, RGD:13825250, RGD:13825248, RGD:13825248 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A no_association ISO protein:increased expression:brain:
protein:increased expression:cerebrospinal fluid: 		RGD PMID:20110607 PMID:21978728 PMID:17724122 PMID:17267158 RGD:13825249, RGD:13825268, RGD:13825267, RGD:13825266 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO protein:decreased expression:brain:
protein:increased expression:cerebrospinal fluid: 		RGD PMID:20110607 PMID:21978728 RGD:13825249, RGD:13825268 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Tomm40 translocase of outer mitochondrial membrane 40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27023435 PMID:29107063 PMID:30319691 PMID:30320580 NCBI chr 1:79,358,781...79,370,882
Ensembl chr 1:79,358,786...79,370,915 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:17581637 RGD:2290573 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO RGD PMID:15182943 RGD:1580467 NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19374891 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10320038 NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129 		JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24663666 PMID:28714976 NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:12,647,259...12,654,170 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO RGD PMID:16341938 RGD:1580518 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Tspan14 tetraspanin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33589840 NCBI chr16:16,818,344...16,875,462
Ensembl chr16:16,783,234...16,841,400 		JBrowse link
G Ttr transthyretin ISO RGD PMID:16552785 RGD:1580525 NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO RGD PMID:14722078 RGD:1580538 NCBI chr14:41,838,859...41,849,743
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
G Ucp1 uncoupling protein 1 ISO protein:decreased expression:plasma (human) RGD PMID:24498895 RGD:10045648 NCBI chr19:41,713,350...41,721,421
Ensembl chr19:24,808,783...24,816,852 		JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO DNA:hypermethylation:promoter:
protein:decreased expression:temporal cortex 		RGD PMID:26943237 PMID:11130185 RGD:11572212, RGD:13831335 NCBI chr 8:118,468,223...118,479,968
Ensembl chr 8:109,589,706...109,601,480 		JBrowse link
G Usp25 ubiquitin specific peptidase 25 ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:16369530 PMID:16921174 PMID:24691562 NCBI chr11:15,603,654...15,711,356
Ensembl chr11:15,603,881...15,711,348 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Alzheimer disease ClinVar PMID:30279455 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15732116 PMID:15732116 RGD:1580571 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vim vimentin ISO protein:increased expression:brain RGD PMID:19728994 PMID:19728994 RGD:6480519, RGD:6480519 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO DNA:repeat RGD PMID:7550352 RGD:737739 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Alzheimer disease, early onset ClinVar PMID:25741868 NCBI chr 8:77,359,499...77,533,009
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
G Vsnl1 visinin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25806004 NCBI chr 6:34,038,641...34,159,479
Ensembl chr 6:34,038,642...34,159,479 		JBrowse link
G Wt1 WT1 transcription factor ISO RGD PMID:12914969 RGD:1580623 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30820047 NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
G Xrn1 5'-3' exoribonuclease 1 susceptibility ISO DNA:snp:intron:c.1883+365T>C (rs1351965) (human) RGD PMID:22984654 RGD:11528589 NCBI chr 8:96,527,871...96,637,385
Ensembl chr 8:96,528,195...96,632,739 		JBrowse link
Alzheimer's disease 1 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: APP POLYMORPHISM | ClinVar Annotator: match by term: APP-related condition | ClinVar Annotator: match by term: Alzheimer disease type 1 OMIM
ClinVar		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Blmh bleomycin hydrolase ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:8639621 PMID:25741868 NCBI chr10:61,772,112...61,815,212
Ensembl chr10:61,758,478...61,815,212 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Lpo lactoperoxidase ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:6260268 PMID:9766845 PMID:15108282 PMID:24033266 PMID:25741868 More... NCBI chr10:73,104,170...73,124,683
Ensembl chr10:72,606,944...72,626,535 		JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar
OMIM		 PMID:6260268 PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 More... NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:25741868 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Plau plasminogen activator, urokinase ISO OMIM NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
Alzheimer's disease 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO OMIM NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:12,647,259...12,654,170 		JBrowse link
Alzheimer's disease 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 susceptibility ISO ClinVar Annotator: match by term: Alzheimer disease 18 ClinVar
OMIM		 PMID:19608551 PMID:24055016 PMID:25741868 NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
Alzheimer's disease 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Alzheimer disease 19 ClinVar PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411 PMID:25832412 More... NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072 		JBrowse link
Alzheimer's disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease 2 | ClinVar Annotator: match by term: Alzheimer disease associated with APOE E4 | ClinVar Annotator: match by term: Late-onset familial alzheimer disease 		CTD
OMIM
ClinVar		 PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
Alzheimer's disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 ClinVar
OMIM		 PMID:1713245 PMID:8488843 PMID:8750611 PMID:9279208 PMID:9360638 More... NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Kif5c kinesin family member 5C ISO protein:decreased expression:cerebellum (human) RGD PMID:24569455 RGD:12859086 NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Alzheimer disease 3 ClinVar PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 More... NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Psen1 presenilin 1 ISO
ISS 		ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance
OMIM:607822 		OMIM
ClinVar
MouseDO		 PMID:1985297 PMID:2025423 PMID:2793034 PMID:7550356 PMID:7581374 More... NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
Alzheimer's disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 		CTD
ClinVar		 PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease 4 ClinVar PMID:8910898 PMID:9189043 PMID:9437013 PMID:9804121 PMID:10468510 More... NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Psen2 presenilin 2 ISO ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7186461 PMID:7550356 PMID:7638622 PMID:7651536 PMID:8661049 More... NCBI chr13:94,499,451...94,528,419
Ensembl chr13:91,967,983...91,993,174 		JBrowse link
Alzheimer's disease 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sorcs1 sortilin-related VPS10 domain containing receptor 1 ISO ClinVar Annotator: match by term: Alzheimer disease 6 ClinVar PMID:19241460 PMID:21280075 PMID:25741868 NCBI chr 1:249,080,662...249,594,520
Ensembl chr 1:249,081,355...249,594,507 		JBrowse link
Alzheimer's disease 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 susceptibility ISO ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET | ClinVar Annotator: match by term: Alzheimer disease 9
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28097223 More... NCBI chr 7:10,342,092...10,362,094
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Alzheimer disease 9 ClinVar PMID:28789839 NCBI chr 8:51,238,713...51,401,458
Ensembl chr 8:42,341,704...42,504,513 		JBrowse link
Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Atp5pf ATP synthase peripheral stalk subunit F6 ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr11:37,368,045...37,375,721
Ensembl chr11:23,881,592...23,889,119 		JBrowse link
G Cyyr1 cysteine and tyrosine rich 1 ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr11:24,557,620...24,664,007
Ensembl chr11:24,515,316...24,663,961 		JBrowse link
G Gabpa GA binding protein transcription factor subunit alpha ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr11:37,375,040...37,404,060
Ensembl chr11:23,888,815...23,917,605 		JBrowse link
G Jam2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr11:23,830,820...23,880,071
Ensembl chr11:23,831,106...23,880,063 		JBrowse link
G Mir155 microRNA 155 ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir155hg Mir155 host gene ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr11:23,773,468...23,775,697 JBrowse link
G Mrpl39 mitochondrial ribosomal protein L39 ISO ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy ClinVar PMID:16369530 PMID:19047566 NCBI chr11:23,779,655...23,795,146
Ensembl chr11:23,779,662...23,795,125 		JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis ClinVar PMID:24121961 PMID:25741868 PMID:27930341 PMID:28492532 PMID:34776449 More... NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia 		CTD
ClinVar		 PMID:11920851 PMID:15534188 PMID:25741868 NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques ClinVar PMID:7550356 PMID:8733749 PMID:8742474 PMID:8755489 PMID:9172170 More... NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 OMIM
ClinVar		 PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 More... NCBI chr  X:17,853,086...17,856,505
Ensembl chr  X:17,853,114...17,856,505 		JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 | ClinVar Annotator: match by term: TUBA4A-related condition OMIM
ClinVar		 PMID:25374358 PMID:25741868 PMID:28492532 PMID:39033378 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus Fus RNA binding protein ISO
ISS 		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
OMIM:608030
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds: 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 More... RGD:9685712 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 ClinVar PMID:30103325 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:166,636,551...166,659,825
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association 		ISO DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam | ClinVar Annotator: match by term: Guam disease | ClinVar Annotator: match by term: TRPM7-related condition 		ClinVar
OMIM
RGD		 PMID:16051700 PMID:19405049 PMID:25741868 PMID:28492532 PMID:30090657 More... RGD:5685005, RGD:5685008 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190 		JBrowse link
Autosomal Dominant Diffuse Lewy Body Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:1348297 PMID:1704891 PMID:1864608 PMID:1897529 PMID:1899336 More... NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:25393002 PMID:28492532 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:15365127 PMID:21045828 PMID:25741868 PMID:26332674 PMID:31589614 More... NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
basal laminar drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED 		CTD
ClinVar
OMIM		 PMID:3418956 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 More... NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
bestrophinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy
OMIM:611809 		OMIM
ClinVar
MouseDO		 PMID:2133066 PMID:2162627 PMID:2855908 PMID:3401268 PMID:9700209 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:15623792 PMID:17128490 PMID:17297678 PMID:22065545 PMID:23379534 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:2133066 PMID:10788642 PMID:10798642 PMID:18985398 PMID:20927214 More... NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy ClinVar PMID:11139241 PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
Beukes hip dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type ClinVar PMID:25741868 NCBI chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 More... NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome OMIM
ClinVar		 PMID:9536098 PMID:12002153 PMID:17576681 PMID:18414213 PMID:21658225 More... NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
branchiootic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BRANCHIOOTIC DYSPLASIA | ClinVar Annotator: match by term: Branchiootic dysplasia 		CTD
ClinVar		 PMID:9020840 PMID:9361030 PMID:10464653 PMID:10991693 PMID:11683347 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Inner ear malformation ClinVar PMID:29955957 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Branchiootic syndrome ClinVar PMID:12843324 PMID:15141091 PMID:16652090 PMID:19497856 PMID:21254961 More... NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
Branchiootic Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: BO SYNDROME 1 | ClinVar Annotator: match by term: BO syndrome 1 | ClinVar Annotator: match by term: Branchiootic syndrome 1 OMIM
ClinVar		 PMID:9020840 PMID:9359046 PMID:9361030 PMID:9536098 PMID:10464653 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Branchiootic syndrome 1 ClinVar PMID:12843324 PMID:15141091 PMID:16652090 PMID:19497856 PMID:21254961 More... NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
Branchiootic Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mnat1 MNAT1 component of CDK activating kinase ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:25414181 PMID:28492532 NCBI chr 6:91,814,703...91,971,945
Ensembl chr 6:91,814,749...91,970,744 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: BO SYNDROME 3 | ClinVar Annotator: match by term: Branchiootic syndrome 3 | ClinVar Annotator: match by term: SIX1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
G Six4 SIX homeobox 4 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:18666230 PMID:25414181 PMID:28492532 NCBI chr 6:91,802,328...91,816,002
Ensembl chr 6:91,802,329...91,815,992 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:18666230 PMID:25414181 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Trmt5 tRNA methyltransferase 5 ISO ClinVar Annotator: match by term: Branchiootic syndrome 3 ClinVar PMID:25414181 PMID:28492532 NCBI chr 6:97,702,375...97,723,534
Ensembl chr 6:91,943,724...91,987,555 		JBrowse link
branchiootorenal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Melnick-Fraser syndrome ClinVar PMID:28492532 PMID:30311386 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO
ISS 		ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Branchiootorenal syndrome | ClinVar Annotator: match by term: Melnick-Fraser syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,introns:multiple
DNA:deletion,mutations:exons, IVS:c.920delG, c.1773C>G(p.Y591X),IVS10-1G>A (1141-1G>A),IVS12+4A>G (c.1360+4A>G)(human) 		ClinVar
MouseDO
CTD
RGD		 PMID:2773990 PMID:8566479 PMID:9020840 PMID:9361030 PMID:9536098 More... RGD:1598917, RGD:8554897, RGD:8554880 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Six1 SIX homeobox 1 ISO
ISS 		DNA:missense mutations,deletion:A386G(Y129C),C328T(R110W),397_399delGGA(E133del)(human)
ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Melnick-Fraser syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, snp:cds, intron:p.Y129C, p.P249L, c.560+3A>T (human)
DNA:mutations:cds:c.50T>A, c.218A>C, c.317T>G, c.329G>A, c.334C>T (human)
DNA:mutation:cds:c.364T>A (p.W122R)(human)
DNA:mutation:cds:p.E121G(mouse) 		MouseDO
ClinVar
CTD
RGD		 PMID:18330911 PMID:24164807 PMID:25741868 PMID:15141091 PMID:21280147 More... RGD:8554876, RGD:11064057, RGD:8554882, RGD:8554880, RGD:8554879 NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
G Six5 SIX homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:87,868,859...87,873,929
Ensembl chr 1:78,741,367...78,745,890 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melnick-Fraser syndrome 		CTD
ClinVar		 PMID:19685247 PMID:30311386 NCBI chr17:24,230,064...24,253,219
Ensembl chr17:24,024,432...24,047,507 		JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Melnick-Fraser syndrome ClinVar PMID:25741868 PMID:30311386 NCBI chr 1:231,136,218...231,264,750
Ensembl chr 1:221,709,745...221,838,295 		JBrowse link
branchiootorenal syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Branchiootorenal syndrome 1 OMIM
ClinVar		 PMID:2773990 PMID:5365063 PMID:8566479 PMID:9020840 PMID:9361030 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1 ClinVar PMID:12843324 PMID:15141091 PMID:16652090 PMID:19497856 PMID:21254961 More... NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
branchiootorenal syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six5 SIX homeobox 5 ISO ClinVar Annotator: match by term: Branchiootorenal syndrome 2 | ClinVar Annotator: match by term: SIX5-related condition OMIM
ClinVar		 PMID:17357085 PMID:21280147 PMID:24429398 PMID:25741868 PMID:26467025 More... NCBI chr 1:87,868,859...87,873,929
Ensembl chr 1:78,741,367...78,745,890 		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 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477 		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 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		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 | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type 		CTD
ClinVar		 PMID:3435268 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		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 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796 		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 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		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:19387015 PMID:25712943 PMID:25741868 PMID:26063658 PMID:26467025 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		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 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
Cerebral Amyloidosis with Spongiform Encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO ClinVar Annotator: match by term: Amyloidosis cerebral with spongiform encephalopathy ClinVar PMID:1351274 PMID:1353341 PMID:1363810 PMID:1404799 PMID:1469441 More... NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:119,177,485...119,203,937 		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: 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 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		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:151,789,930...151,844,689 		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 chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513 		JBrowse link
congenital hypotrichosis with juvenile macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy | ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10420194 PMID:11544476 PMID:12445216 PMID:14708629 PMID:15805154 More... NCBI chr19:51,303,414...51,353,900
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
Creutzfeldt-Jakob disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a1 aldehyde dehydrogenase 1 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 1:227,426,939...227,579,497
Ensembl chr 1:218,042,127...218,152,961 		JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177 		JBrowse link
G Cped1 cadherin-like and PC-esterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 4:50,516,712...50,789,651
Ensembl chr 4:50,516,819...50,788,674 		JBrowse link
G Ctss cathepsin S ISO RGD PMID:12368333 RGD:5686913 NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Galc galactosylceramidase ISO mRNA:decreased expression:frontal cortex (human) RGD PMID:30009661 RGD:38599170 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:brain: RGD PMID:8790403 RGD:10045948 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Klrc2 killer cell lectin like receptor C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 4:164,808,722...164,819,865
Ensembl chr 4:163,122,704...163,133,843 		JBrowse link
G Krt73 keratin 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 7:132,927,812...132,936,323
Ensembl chr 7:132,928,256...132,936,280 		JBrowse link
G Mapt microtubule-associated protein tau ISO protein:increased expression:CSF (human)
protein:increased expression:CSF, serum (human) 		RGD PMID:31541342 PMID:29368621 PMID:27929120 PMID:30309804 RGD:127284880, RGD:127284889, RGD:127284887, RGD:127284881 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Msl3l2 male-specific lethal 3-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr20:35,468,877...35,477,025
Ensembl chr20:35,468,888...35,477,757 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:CSF (human) RGD PMID:27929120 RGD:127284887 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human)
protein:increased expression:CSF, serum (human) 		RGD PMID:31541342 PMID:29368621 PMID:27929120 PMID:30309804 RGD:127284880, RGD:127284889, RGD:127284887, RGD:127284881 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Prnp prion protein ISO
ISS 		DNA:mutation
ClinVar Annotator: match by term: Creutzfeldt-Jakob Disease, Familial
OMIM:123400
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1351274 PMID:1353341 PMID:1404799 PMID:1469441 PMID:1672296 More... RGD:1599946 NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO mRNA, protein:increased expression:macrophage, endothelial cell RGD PMID:12663931 RGD:5688237 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:neuron RGD PMID:12663931 RGD:5688237 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum (human) RGD PMID:20855493 PMID:27929120 RGD:5508781, RGD:127284887 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Serpina3m serpin family A member 3M disease_progression ISO mRNA,protein:increased expression:frontal cortex: RGD PMID:29142239 PMID:29142239 RGD:36947868, RGD:36947868 NCBI chr 6:123,064,796...123,072,087
Ensembl chr 6:123,064,796...123,072,066 		JBrowse link
G Serpina3n serpin family A member 3N ISO mRNA,protein:increased expression:frontal cortex: RGD PMID:29142239 RGD:36947868 NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:cerebral spinal fluid: RGD PMID:18625222 RGD:13506723 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Snora16b small nucleolar RNA, H/ACA box 16B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr 8:2,368,882...2,369,014
Ensembl chr 8:2,368,882...2,369,014 		JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747 		JBrowse link
G Stx1a syntaxin 1A ISO RGD PMID:10842016 RGD:1581434 NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930 		JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:23349890 NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO protein:increased expression:CSF (human) RGD PMID:31541342 PMID:27929120 PMID:30309804 RGD:127284880, RGD:127284887, RGD:127284881 NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827 		JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human) 		ClinVar
CTD
OMIM
RGD		 PMID:8841189 PMID:9536098 PMID:10878669 PMID:11405816 PMID:11601506 More... RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma RGD PMID:22213409 RGD:5686377 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22300406 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Bace1 beta-secretase 1 treatment IMP RGD PMID:28683457 RGD:13782142 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:21473886 RGD:10054040 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bche butyrylcholinesterase ISO associated with Parkinson Disease;protein:increased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:21473886 RGD:10054040 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta IEP protein:decreased expression:hippocampus RGD PMID:20545768 RGD:9685031 NCBI chr 5:151,435,600...151,535,409
Ensembl chr 5:151,434,871...151,535,409 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12572680 NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532572 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Drd2 dopamine receptor D2 IEP mRNA:decreased expression:striatum (rat) RGD PMID:19500946 RGD:2311554 NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G E2f1 E2F transcription factor 1 ISO associated with Down Syndrome;protein:increased expression:frontal cortex; RGD PMID:11423103 RGD:10401091 NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:2354367 RGD:10059682 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Grn granulin precursor onset ISO DNA:polymorphism: :rs1990622(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17436289 PMID:18543312 PMID:21220649 RGD:5509592 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Gsr glutathione-disulfide reductase ISO associated with Uremia RGD PMID:19242659 RGD:10401864 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17640385 RGD:5508465 NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703 		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 1:121,550,743...121,831,777 		JBrowse link
G Lrp8 LDL receptor related protein 8 ISO DNA:mutation: :p.R952Q (human) RGD PMID:17614163 RGD:6483063 NCBI chr 5:122,563,468...122,635,434
Ensembl chr 5:122,563,453...122,631,352 		JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 susceptibility ISO DNA:insertion,deletion:intron: RGD PMID:18721259 RGD:10412053 NCBI chr14:79,876,002...79,888,011
Ensembl chr14:75,651,376...75,665,414 		JBrowse link
G Mapt microtubule-associated protein tau disease_progression ISO DNA:haplotype: :
ClinVar Annotator: match by term: Dementia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:7783864 PMID:7936288 PMID:8940276 PMID:9088499 PMID:9392579 More... RGD:10412700 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:25741868 PMID:26467025 PMID:26878173 PMID:26898890 PMID:27878467 More... NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
G Ngfr nerve growth factor receptor IEP associated with Autoimmune Diseases;protein:decreased expression:medial septal nucleus RGD PMID:8232919 RGD:10413897 NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:10674474 RGD:1358529 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:21297263 RGD:6480775 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Npy neuropeptide Y ISO associated with Parkinson Disease;protein:decreased expression:cerebral cortex RGD PMID:2903567 RGD:10433462 NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Nrg1 neuregulin 1 treatment ISO RGD PMID:21473886 RGD:10054040 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO associated with Parkinson Disease RGD PMID:14746899 RGD:1642360 NCBI chr  X:17,251,963...17,255,405
Ensembl chr  X:14,580,038...14,583,566 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:16278861 RGD:6482779 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:snp, missense mutation, haplotype:promoter, cds:g.-107T>C, p.Q129R (human) RGD PMID:15016430 RGD:1358562 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:9384602 PMID:10631141 PMID:11524469 PMID:16752394 PMID:17366635 More... NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Dementia ClinVar PMID:25741868 NCBI chr 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18579413 NCBI chr 1:31,537,990...31,578,962
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Slc9a8 solute carrier family 9 member A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19234771 NCBI chr 3:156,147,855...156,198,497
Ensembl chr 3:156,148,104...156,198,471 		JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18546367 NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:12,647,259...12,654,170 		JBrowse link
G Vcp valosin-containing protein ISO IBMPFD, OMIM:167320 RGD PMID:15034582 RGD:1599735 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO DNA:repeat RGD PMID:11342683 RGD:737740 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
Digital Arthropathy-Brachydactyly, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO
ISS 		DNA:missense mutation:cds:p.R345W (human)
ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina | ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy
OMIM:126600
CTD Direct Evidence: marker/mechanism
protein:altered expression: : 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:15785976 More... RGD:1598888, RGD:10401794, RGD:10401791 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: MALATTIA LEVENTINESE ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr19:51,303,414...51,353,900
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
Fontaine Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Fontaine progeroid syndrome | ClinVar Annotator: match by term: SLC25A24-related condition OMIM
ClinVar		 PMID:10215548 PMID:10594888 PMID:19731360 PMID:21216154 PMID:25741868 More... NCBI chr 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231 		JBrowse link
frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26101835 PMID:28097223 PMID:28400126 PMID:28789839 More... NCBI chr 7:10,342,092...10,362,094
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Ang angiogenin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 PMID:35873773 NCBI chr15:26,786,233...26,796,883 JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:1353340 PMID:10477432 PMID:12809637 PMID:16678723 PMID:18693274 More... NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G Bace2 beta-secretase 2 ISO mRNA,protein, activity:increased expression, increased activity:gyrus: RGD PMID:22074738 RGD:13782172 NCBI chr11:36,707,447...36,789,550
Ensembl chr11:36,707,458...36,789,546 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr10:13,757,884...13,783,669
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
G Chmp2b charged multivesicular body protein 2B no_association ISO
ISS 		DNA:mutations:cds
OMIM:600274
ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
DNA:mutations: : 		MouseDO
ClinVar
CTD
RGD		 PMID:16041373 PMID:25741868 PMID:26467025 PMID:28492532 PMID:16041373 More... RGD:5688398, RGD:5688721, RGD:5688716 NCBI chr11:16,783,971...16,810,500
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26476772 PMID:28492532 PMID:31836585 NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:28492532 PMID:35873773 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 PMID:35873773 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:20138404 PMID:22863194 PMID:25382069 PMID:25558820 PMID:25741868 More... NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Glt8d1 glycosyltransferase 8 domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229 		JBrowse link
G Grn granulin precursor ISO DNA:mutations, haploinsufficiency: :
ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM | ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
DNA:deletion: :g.102delC(humN)
DNA:missense mutation:signal peptide:p.A9D(human) 		ClinVar
CTD
RGD		 PMID:16199547 PMID:16862116 PMID:16950801 PMID:17030534 PMID:18234697 More... RGD:5509588, RGD:5509612, RGD:5509609, RGD:5509602, RGD:5509589 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:23455423 PMID:25741868 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar
RGD		 PMID:17639429 RGD:5508418 NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Mapt microtubule-associated protein tau no_association ISO DNA:missense mutations, splice site mutations:exon, intron:multiple
ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM | ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia | ClinVar Annotator: match by term: Semantic dementia
CTD Direct Evidence: marker/mechanism
DNA:mutation:splice junction: IVS10+16C>T(human)
DNA:haplotype 		ClinVar
OMIM
CTD
RGD		 PMID:1416801 PMID:2273997 PMID:7783864 PMID:7936288 PMID:7977375 More... RGD:1302531, RGD:10412702, RGD:10412699, RGD:8158108 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Marchf4 membrane associated ring-CH-type finger 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:29476165 NCBI chr 9:74,078,437...74,196,070
Ensembl chr 9:74,078,434...74,198,199 		JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:164,319,017...164,332,686
Ensembl chr 5:159,035,911...159,049,580 		JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 2:15,708,732...15,871,639
Ensembl chr 2:13,993,438...14,132,880 		JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein disease_progression ISO DNA:SNP: :rs1768208(human) RGD PMID:24994843 RGD:27226701 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 PMID:35873773 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:16,763,312...16,781,295
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase disease_progression ISO RGD PMID:18817929 RGD:10412726 NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM | ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7596406 PMID:7623585 PMID:7651536 PMID:8538334 PMID:8634712 More... NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 PMID:35873773 NCBI chr15:26,786,287...26,803,634
Ensembl chr15:24,312,464...24,330,117 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Sppl2c signal peptide peptidase like 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,095,279...89,097,487
Ensembl chr10:89,095,261...89,098,580 		JBrowse link
G Tardbp TAR DNA binding protein ISS
ISO 		OMIM:600274 | OMIM:600795
ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM | ClinVar Annotator: match by term: Frontotemporal dementia 		MouseDO
ClinVar		 PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More... NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tm2d3 TM2 domain containing 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 1:119,267,194...119,277,094
Ensembl chr 1:119,264,576...119,277,099 		JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940 		JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISS
ISO 		OMIM:600274 | OMIM:600795
ClinVar Annotator: match by term: Frontotemporal dementia 		MouseDO
ClinVar		 PMID:23582655 PMID:24119542 PMID:25186855 PMID:25741868 PMID:28492532 More... NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:12,647,259...12,654,170 		JBrowse link
G Vcp valosin-containing protein ISS OMIM:600274 MouseDO NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26942284 PMID:28492532 PMID:29770609 PMID:31345219 More... NCBI chr 8:77,359,499...77,533,009
Ensembl chr 8:68,478,395...68,651,895 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar PMID:25741868 NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408 		JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,920,992...35,126,465
Ensembl chr10:34,921,049...35,123,821 		JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,124,941...35,157,954
Ensembl chr10:34,625,191...34,656,821 		JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,680,926...34,683,176
Ensembl chr10:34,677,770...34,682,784 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846 		JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,060,002...35,066,466
Ensembl chr10:34,560,360...34,562,651 		JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,588,639...34,623,024
Ensembl chr10:34,588,646...34,623,338 		JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,049,421...35,060,307
Ensembl chr10:34,549,433...34,559,229 		JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:26769963 PMID:28492532 NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408 		JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,705,741...34,750,644
Ensembl chr10:34,705,741...34,750,644 		JBrowse link
G Spata31d1c SPATA31 subfamily D member 1C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr17:159,402...164,239
Ensembl chr17:159,398...164,270 		JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:9536098 PMID:11473345 PMID:11992264 PMID:12374763 PMID:14584883 More... NCBI chr10:35,026,598...35,037,750
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Zfp354c zinc finger protein 354C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,129,720...35,145,717
Ensembl chr10:35,132,959...35,145,661 		JBrowse link
G Zfp879 zinc finger protein 879 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:35,148,679...35,158,674
Ensembl chr10:35,148,679...35,158,674 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h22orf15 similar to human chromosome 22 open reading frame 15 ISO ClinVar Annotator: match by term: FTDALS2 ClinVar PMID:28492532 NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059 		JBrowse link
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 More... NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 OMIM
ClinVar		 PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15176995 More... NCBI chr10:35,026,598...35,037,750
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Tbk1 TANK-binding kinase 1 susceptibility ISO ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 More... NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,035,165...61,040,683
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,968,495...60,982,618
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,548,300...62,551,870
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,685,511...61,692,821
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,731,601...60,778,456
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,864,476...60,877,059
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,002,427...63,004,314
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,877,369...60,894,512
Ensembl chr 5:56,081,343...56,098,529 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,619,326...61,657,359
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,256,353...61,278,155
Ensembl chr 5:56,461,006...56,482,456 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,676,950...61,684,958
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,638,404...60,649,315
Ensembl chr 5:55,842,426...55,853,967 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,596,860...61,598,657
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,369,495...64,374,711
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,475,185...61,525,749
Ensembl chr 5:56,680,613...56,729,924 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,706,118...62,715,339
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,092,709...64,139,054
Ensembl chr 5:59,297,045...59,343,348 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,238,730...64,340,778
Ensembl chr 5:59,443,076...59,545,080 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,778,112...62,778,954
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,357,078...61,423,882
Ensembl chr 5:56,561,154...56,628,025 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,336,151...63,396,254
Ensembl chr 5:58,540,449...58,600,937 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,634,721...62,635,771
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,196,585...60,206,152
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,900,140...60,958,889
Ensembl chr 5:56,105,234...56,162,912 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,055,863...61,083,249
Ensembl chr 5:56,260,830...56,270,336 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,424,176...61,439,018
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,876,908...62,877,867
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,757,159...62,758,097
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,554,784...63,741,380
Ensembl chr 5:58,765,036...58,944,326 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,939,261...61,966,879
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,075,123...64,090,900
Ensembl chr 5:59,279,460...59,295,369 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 4:71,169,749...71,173,223
Ensembl chr 4:70,203,088...70,206,562 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,630,253...62,638,872
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:55,321,235...55,370,819 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,154,507...63,263,138
Ensembl chr 5:58,361,976...58,467,446 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,536,003...62,538,230
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Smu1 SMU1, DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,652,680...60,671,251
Ensembl chr 5:55,856,246...55,875,300 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,861,587...61,867,724
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,995,800...61,999,889
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,811,899...60,860,823
Ensembl chr 5:55,981,624...56,064,795 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,462,070...61,474,832
Ensembl chr 5:56,666,058...56,678,923 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,408,587...60,411,841
Ensembl chr 5:55,612,568...55,615,828 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,715,238...62,744,187
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,158,026...64,160,857
Ensembl chr 5:59,362,240...59,365,269 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,344,491...64,368,175
Ensembl chr 5:59,548,869...59,572,526 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,316,650...61,357,077
Ensembl chr 5:56,520,743...56,561,152 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,144,182...61,233,355
Ensembl chr 5:56,348,246...56,437,049 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:61,082,552...61,141,099
Ensembl chr 5:56,286,725...56,345,513 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 OMIM
ClinVar		 PMID:7182974 PMID:9536098 PMID:12446676 PMID:15034582 PMID:16199547 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:64,039,805...64,062,451
Ensembl chr 5:59,243,307...59,265,426 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:63,787,292...63,968,960
Ensembl chr 5:58,993,290...59,173,300 		JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 OMIM
ClinVar		 PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 More... NCBI chr11:16,783,971...16,810,500
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:16,763,312...16,781,295
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: CCNF-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 OMIM
ClinVar		 PMID:25741868 PMID:27080313 PMID:28281833 PMID:28492532 PMID:31577344 NCBI chr10:13,757,884...13,783,669
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 OMIM
ClinVar		 PMID:10835629 PMID:19462465 PMID:23338750 PMID:24728327 PMID:25741868 More... NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
Frontotemporal Lobar Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain-derived neurotrophic factor no_association ISO DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human)
DNA:SNP: :rs2049045 (human) 		RGD PMID:22596272 PMID:22596272 RGD:10059351, RGD:10059351 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Chmp2b charged multivesicular body protein 2B no_association ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17956895 PMID:22366797 PMID:20412296 RGD:5688397, RGD:5688712 NCBI chr11:16,783,971...16,810,500
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Fus Fus RNA binding protein ISO RGD PMID:21847626 PMID:21408206 RGD:5509902, RGD:9685710 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Grn granulin precursor onset ISO DNA, protein:mutations, decreased expression:plasma:multiple
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs9897526 (human)
DNA:frameshift mutation, missense mutations, nonsense mutation:exon:multiple
DNA:mutation:intron:IVS6-1G>A (human)
DNA:hypermethylation:promoter 		CTD
RGD		 PMID:20154673 PMID:19158106 PMID:18192287 PMID:17228326 PMID:17950702 More... RGD:10401634, RGD:10401650, RGD:10401647, RGD:10401638, RGD:10401637 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO protein:decreased phosphorylation:frontal cortex (human) RGD PMID:20886841 RGD:10412651 NCBI chr 6:135,523,604...135,529,687
Ensembl chr 6:129,702,383...129,707,268 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29368621 RGD:127284889 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Optn optineurin ISO RGD PMID:21360076 RGD:6480505 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25442110 PMID:27713094 NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24885036 NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Tardbp TAR DNA binding protein ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.A382T (human)
protein:increased phosphorylation:brain 		CTD
RGD		 PMID:24019256 PMID:24252504 PMID:24477737 PMID:26980269 PMID:22177996 More... RGD:5687136, RGD:5687172, RGD:5687159, RGD:5687158 NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tmem106b transmembrane protein 106B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20154673 NCBI chr 4:42,294,074...42,313,426
Ensembl chr 4:41,327,994...41,345,619 		JBrowse link
Geographic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:aqueous humor of eyeball RGD PMID:24142887 RGD:8661224 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte RGD PMID:24142887 RGD:8661224 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Htra1 HtrA serine peptidase 1 ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:17426452 RGD:7394693 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
Gerstmann-Straussler-Scheinker syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | ClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler type | ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome
OMIM:137440 		CTD
OMIM
ClinVar
MouseDO		 PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
glucocorticoid-induced osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 treatment IEP RGD PMID:28363435 RGD:598092495 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
GRN-related frontotemporal lobar degeneration with TDP43 inclusions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb16 ankyrin repeat and SOCS box-containing 16 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,225,976...87,233,078
Ensembl chr10:87,225,912...87,233,078 		JBrowse link
G Atxn7l3 ataxin 7-like 3 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,242,843...87,250,186
Ensembl chr10:87,243,587...87,250,620 		JBrowse link
G Fam171a2 family with sequence similarity 171, member A2 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:9152110 PMID:9259373 PMID:16862116 PMID:16950801 PMID:18855025 More... NCBI chr10:87,393,888...87,404,051
Ensembl chr10:87,394,007...87,404,053 		JBrowse link
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221 		JBrowse link
G Grn granulin precursor ISO
ISS 		ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
OMIM:607485 		ClinVar
MouseDO
OMIM
RGD		 PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 More... RGD:5509604 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Hdac5 histone deacetylase 5 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,653,139...87,688,078
Ensembl chr10:87,152,978...87,188,235 		JBrowse link
G Hrob homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,206,017...87,222,483
Ensembl chr10:87,206,049...87,222,483 		JBrowse link
G Lsm12 LSM12 homolog ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,118,334...87,140,395
Ensembl chr10:87,118,416...87,140,396 		JBrowse link
G Rundc3a RUN domain containing 3A ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,352,624...87,361,767
Ensembl chr10:87,352,646...87,361,765 		JBrowse link
G Slc25a39 solute carrier family 25, member 39 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,362,494...87,367,358
Ensembl chr10:87,362,490...87,367,260 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Tardbp TAR DNA binding protein ISS OMIM:607485 MouseDO NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Tmub2 transmembrane and ubiquitin-like domain containing 2 ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,238,543...87,242,968
Ensembl chr10:87,238,548...87,242,779 		JBrowse link
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969 		JBrowse link
Hand Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 no_association ISO DNA:SNPs:exons: (rs2077647, rs1801132) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Il4 interleukin 4 no_association ISO DNA:SNPs:promoter, 5' utr, intron:multiple RGD PMID:20219689 RGD:10402786 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il4r interleukin 4 receptor no_association ISO DNA:SNPs:promoter, exons:multiple RGD PMID:20219689 RGD:10402786 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
Huntington's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment IMP
ISO 		RGD PMID:152600 PMID:6237280 RGD:10047058, RGD:10046047 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		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 chr12:19,407,360...19,413,651 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr 3:79,125,814...79,202,896
Ensembl chr 3:58,718,332...58,795,236 		JBrowse link
G Atf5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr 1:104,432,094...104,437,611
Ensembl chr 1:95,295,610...95,299,707 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Bag1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr 5:60,864,476...60,877,059
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:11299004 PMID:18938217 RGD:10054041, RGD:10054048 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bche butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP RGD PMID:11299004 RGD:10054041 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:18093249 PMID:17885687 PMID:19499586 RGD:10058981, RGD:10415531, RGD:10059353 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:10888929 PMID:15668790 RGD:13432082, RGD:10413886 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Casp9 caspase 9 severity ISO protein:increased expression:caudate nucleus:
protein:increased expression:striatum: 		RGD PMID:12095160 PMID:12095160 RGD:13432083, RGD:13432083 Ensembl chr 5:154,109,046...154,126,626 JBrowse link
G Cat catalase IEP protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha treatment ISO protein:altered localization:liver (mouse) RGD PMID:21651979 PMID:17213233 RGD:6484269, RGD:10401191 NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Chat choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr 1:143,587,591...143,593,153
Ensembl chr 1:134,178,331...134,213,423 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO
IDA 		RGD PMID:19115380 PMID:19115380 RGD:2316196, RGD:2316196 NCBI chr 5:153,408,968...153,435,092
Ensembl chr 5:148,125,604...148,151,548 		JBrowse link
G Cntf ciliary neurotrophic factor treatment IDA
ISO 		human gene in a cynomolgus monkey model RGD PMID:12040055 PMID:9121555 RGD:628474, RGD:734795 NCBI chr 1:219,312,512...219,314,535
Ensembl chr 1:209,887,854...209,889,877 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO
IEP 		protein:decreased phosphorylation:neuron: RGD PMID:11967539 PMID:16420411 RGD:734817, RGD:10059577 NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Crebbp CREB binding protein treatment
disease_progression 		ISO protein:altered localization:nucleus RGD PMID:19291221 PMID:20448484 PMID:11264541 RGD:10059583, RGD:13432094, RGD:13432093 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824 		JBrowse link
G Cycs cytochrome c, somatic severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr 4:80,982,667...80,984,767
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054 		JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:cerebral cortex, synapse
protein:decreased expression:prefrontal cortex 		RGD PMID:25568121 PMID:24728190 RGD:13432154, RGD:13432155 NCBI chr10:55,239,397...55,267,780
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dnah6 dynein, axonemal, heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376 		JBrowse link
G Drd1 dopamine receptor D1 IEP
ISO 		protein:decreased expression:cerebral cortex (mouse) RGD PMID:18815258 PMID:16905556 PMID:12111832 RGD:2302117, RGD:7248682, RGD:5686414 NCBI chr17:10,545,488...10,550,029
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Drd2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414, RGD:7248682 NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr11:70,385,586...70,437,793
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Drd5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr14:72,487,950...72,491,050
Ensembl chr14:72,489,347...72,490,774 		JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment IMP RGD PMID:23392662 RGD:7771544 NCBI chr10:17,184,853...17,187,646 JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881 		JBrowse link
G E2f1 E2F transcription factor 1 IEP protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345, RGD:10395348 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:3,692,367...3,709,252
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Ep300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:129,479,774...129,499,018
Ensembl chr 5:129,479,824...129,498,677 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Foxp1 forkhead box P1 ISO mRNA:decreased expression:striatum (mouse)
mRNA:decreased expression:caudate nucleus (human) 		RGD PMID:16405510 PMID:16405510 RGD:11560524, RGD:11560524 NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Git1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr10:62,342,082...62,356,379
Ensembl chr10:62,342,299...62,356,373 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Glul glutamate-ammonia ligase ISO RGD PMID:6237280 PMID:3159462 RGD:10046047, RGD:13524508 NCBI chr13:68,519,500...68,585,554
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gpx6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr17:48,104,197...48,111,816
Ensembl chr17:43,408,472...43,416,091 		JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs1969060 (human)
DNA:SNPs: :rs8057394, rs2650427 (human) 		RGD PMID:17409241 PMID:15742215 PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B onset ISO DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human)
DNA:SNP: :2664C>T (rs1806201) (human) 		RGD PMID:17409241 PMID:15742215 PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 treatment
disease_progression 		ISO RGD PMID:23489026 PMID:15306259 PMID:25160573 PMID:24282028 RGD:13432558, RGD:13432562, RGD:13432561, RGD:13432158 NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274 		JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:11490092 RGD:10401927 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hap1 huntingtin-associated protein 1 onset
no_association 		ISO DNA:SNP: :p.T441M (human)
DNA:SNP: :rs4523977 (human)
DNA:SNP:multiple 		RGD PMID:18192679 PMID:24324398 PMID:26000918 PMID:20512606 PMID:22402331 More... RGD:13432575, RGD:10401859, RGD:13432579, RGD:13432578, RGD:13432577, RGD:13432576, RGD:13432575 NCBI chr10:85,277,890...85,286,126
Ensembl chr10:85,277,890...85,286,126 		JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex 		RGD PMID:22918830 PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111 		JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex 		RGD PMID:22918830 PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856 		JBrowse link
G Hdac7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr 7:130,803,013...130,841,181
Ensembl chr 7:128,923,920...128,962,072 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Hpca hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841 		JBrowse link
G Hsf1 heat shock transcription factor 1 treatment ISO human gene in a mouse model
protein:decreased expression:liver (mouse) 		RGD PMID:16051598 PMID:19443488 PMID:24381308 RGD:10402372, RGD:10402387, RGD:10402386 NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:41,183,264...41,187,259 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr 4:117,114,631...117,117,793
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Htt huntingtin onset
treatment 		ISO
ISS
IMP 		ClinVar Annotator: match by term: HTT-related condition | ClinVar Annotator: match by term: Huntington disease
OMIM:143100
CTD Direct Evidence: marker/mechanism
DNA:repeats:cds:CAG (human)
mRNA:altered expression:cortex, striatum: 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:15218539 PMID:15312898 PMID:16137562 PMID:17018277 PMID:17925440 More... RGD:1302537, RGD:13452381, RGD:11062153, RGD:11062152, RGD:10403029, RGD:10403026, RGD:10402938, RGD:6902915 NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
G Ift57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr11:51,051,520...51,124,909
Ensembl chr11:51,059,611...51,124,812 		JBrowse link
G Ift88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr15:35,685,678...35,786,875
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO human protein in a rat model RGD PMID:23384443 PMID:15371744 PMID:25140802 RGD:10045865, RGD:12904970, RGD:10045870 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO
IEP 		protein:decreased activity:cerebellum, striatum (mouse)
protein:decreased expression:neostriatum (rat) 		RGD PMID:21145001 PMID:9761455 PMID:19193873 RGD:6480685, RGD:6483009, RGD:6480875 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Kdm5c lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870 		JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lep leptin IEP protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:8,615,239...8,681,372
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:8,490,405...8,594,065
Ensembl chr  X:5,907,266...6,011,003 		JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 onset
treatment 		ISO protein:increased expression:cortex,striatum,nucleus:
DNa:SNO:promoter:rs5880308(human) 		RGD PMID:19646509 PMID:18327563 PMID:19646509 RGD:10412311, RGD:10412314, RGD:10412311 NCBI chr 1:16,505,387...16,723,899
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Meg3 maternally expressed 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 6:128,491,808...128,524,010 JBrowse link
G Mir132 microRNA 132 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:60,522,033...60,522,133
Ensembl chr10:60,023,696...60,023,796 		JBrowse link
G Mir22 microRNA 22 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:60,805,331...60,805,425
Ensembl chr10:60,307,039...60,307,133 		JBrowse link
G Mir222 microRNA 222 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:6,022,621...6,022,723
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
G Mir448 microRNA 448 ISO up-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Msh2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II severity ISO RGD PMID:20660112 RGD:13506651 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IMP RGD PMID:20480544 RGD:5687693 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mtnr1a melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366 PMID:21994366 RGD:9686058, RGD:9686058 NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919 		JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748 		JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr10:47,498,852...47,641,612
Ensembl chr10:46,999,536...47,141,032 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 IEP mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Ngfr nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nog noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
G Npy neuropeptide Y onset
no_association 		ISO
IEP 		DNA:SNP: :rs3037354 (human)
mRNA:decreased expression:hypothalamus
DNA:SNP: :rs16147 (human) 		RGD PMID:24121255 PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606, RGD:10433553, RGD:10433112, RGD:10431606 NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024 		JBrowse link
G Nrf1 nuclear respiratory factor 1 onset ISO mRNA:decreased expression:striatum
DNA:SNPs: :rs6949152, rs7781972 (human) 		RGD PMID:20529956 PMID:21595933 RGD:6771173, RGD:6770890 NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pcp4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr11:35,759,711...35,861,725
Ensembl chr11:35,800,713...35,861,725 		JBrowse link
G Pde9a phosphodiesterase 9A treatment IMP RGD PMID:25315303 RGD:243048432 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		JBrowse link
G Plcb3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228 		JBrowse link
G Polr2a RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455 		JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISS OMIM:143100 MouseDO NCBI chr20:6,300,527...6,365,707
Ensembl chr20:6,298,785...6,363,968 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha onset
severity
no_association
treatment 		ISO
IEP
IDA 		DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
protein:increased expression:subthalamic nucleus (rat)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
protein:increased expression:brain (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:snps, haplotypes:multiple (human)
mRNA:decreased expression:medium spiny neuron (mouse)
mRNA:decreased expression:caudate nucleus (human) 		RGD PMID:22589246 PMID:22813864 PMID:21211002 PMID:21757867 PMID:19133136 More... RGD:6484259, RGD:10395291, RGD:10395290, RGD:10395289, RGD:10053656, RGD:10053663, RGD:6770890, RGD:10053656, RGD:10053650, RGD:7242018, RGD:10053648, RGD:7242018, RGD:7242018, RGD:6484269 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B IEP RGD PMID:18502785 RGD:13515080 NCBI chr10:83,843,948...83,853,063
Ensembl chr10:83,347,731...83,356,775 		JBrowse link
G Ppp1r9a protein phosphatase 1, regulatory subunit 9A ISO mRNA:decreased expression:striatum(mouse)
mRNA:decreased expression:caudate nucleus 		RGD PMID:20089533 PMID:20089533 RGD:10043799, RGD:10043799 NCBI chr 4:32,970,501...33,292,360
Ensembl chr 4:33,024,450...33,286,907 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr 2:227,839,058...228,113,560
Ensembl chr 2:225,165,766...225,438,974 		JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO protein:increased phosphorylation, altered localization:nucleus
protein:altered localization:nucleus 		RGD PMID:21768291 PMID:21768291 RGD:6484534, RGD:6484534 NCBI chr 2:55,967,766...56,003,450
Ensembl chr 2:54,240,137...54,275,978 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:21362433 RGD:5508227 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Qprt quinolinate phosphoribosyltransferase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045 		JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO protein:increased expression:neocortex, caudate nucleus (human) RGD PMID:17142323 RGD:9590159 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr 8:66,377,471...66,432,150
Ensembl chr 8:57,481,573...57,536,192 		JBrowse link
G Sirt1 sirtuin 1 ISO human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
protein:decreased expression:frontal cortex 		RGD PMID:22179316 PMID:9949199 PMID:18538940 RGD:9585998, RGD:10395240, RGD:9586004 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:brain, spinal cord RGD PMID:16987871 RGD:5686805 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194, RGD:13432195 NCBI chr 3:109,460,109...109,590,445
Ensembl chr 3:89,005,129...89,126,498 		JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr 3:172,009,072...172,014,395
Ensembl chr 3:151,589,535...151,594,860 		JBrowse link
G Syne3 spectrin repeat containing, nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 6:123,872,895...123,964,773
Ensembl chr 6:123,873,174...123,953,409 		JBrowse link
G Tbp TATA box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:21595933 PMID:20529956 RGD:6770890, RGD:6771173 NCBI chr20:17,355,373...17,367,422
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Trip10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr 9:2,219,695...2,234,771
Ensembl chr 9:2,133,671...2,147,799 		JBrowse link
G Tug1 taurine up-regulated 1 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr14:82,743,501...82,750,534
Ensembl chr14:78,522,506...78,526,927 		JBrowse link
G Ucp1 uncoupling protein 1 treatment ISO mRNA, protein:decreased expression:brown adipose tissue (mouse) RGD PMID:20561979 PMID:17055784 RGD:10045649, RGD:10045650 NCBI chr19:41,713,350...41,721,421
Ensembl chr19:24,808,783...24,816,852 		JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Xpo5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr 9:22,237,760...22,275,745
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISS OMIM:143100 MouseDO NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905 		JBrowse link
G Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 ISS OMIM:143100 MouseDO NCBI chr 7:46,369,963...46,433,691
Ensembl chr 7:46,369,988...46,433,764 		JBrowse link
Huntington's disease-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam33 ADAM metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,715,428...138,736,392
Ensembl chr 3:118,271,029...118,283,461 		JBrowse link
G Adissp adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,817,752...138,832,208
Ensembl chr 3:118,362,363...118,378,838 		JBrowse link
G Adra1d adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:139,246,333...139,262,331
Ensembl chr 3:118,793,346...118,809,354 		JBrowse link
G Ap5s1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,882,634...138,885,940
Ensembl chr 3:118,429,637...118,432,926 		JBrowse link
G Atrn attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,563,271...138,697,360
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
G Avp arginine vasopressin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:117,793,457...117,795,425 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Cdc25b cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,860,148...138,870,287
Ensembl chr 3:118,407,128...118,417,272 		JBrowse link
G Cds2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:139,967,870...140,006,459
Ensembl chr 3:119,515,000...119,553,541 		JBrowse link
G Cenpb centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,850,003...138,852,796
Ensembl chr 3:118,388,546...118,400,470 		JBrowse link
G Chgb chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:140,496,712...140,510,057
Ensembl chr 3:120,043,738...120,057,166 		JBrowse link
G Cpxm1 carboxypeptidase X (M14 family), member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,041,645...138,048,443
Ensembl chr 3:117,588,532...117,595,330 		JBrowse link
G Crls1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:140,572,680...140,591,543
Ensembl chr 3:120,119,852...120,138,655 		JBrowse link
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,315,006...138,336,691
Ensembl chr 3:117,861,653...117,882,680 		JBrowse link
G Dnaaf9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,370,971...138,505,711
Ensembl chr 3:117,921,620...118,052,630 		JBrowse link
G Ebf4 EBF family member 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:137,951,310...138,019,682
Ensembl chr 3:117,498,319...117,566,566 		JBrowse link
G Fastkd5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,283,315...138,300,803
Ensembl chr 3:117,830,083...117,847,820 		JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:140,624,434...140,666,419
Ensembl chr 3:120,171,561...120,213,555 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,707,970...138,715,279
Ensembl chr 3:118,255,402...118,258,329 		JBrowse link
G Gpcpd1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:140,240,574...140,285,469
Ensembl chr 3:119,787,682...119,832,517 		JBrowse link
G Hspa12b heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,799,396...138,817,396
Ensembl chr 3:118,346,354...118,364,737 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Lrrn4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:140,592,303...140,603,986
Ensembl chr 3:120,139,410...120,150,831 		JBrowse link
G Lzts3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,303,378...138,313,645
Ensembl chr 3:117,851,702...117,860,081 		JBrowse link
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:118,451,743...118,466,094 		JBrowse link
G Mcm8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:140,539,590...140,569,891
Ensembl chr 3:120,086,763...120,117,008 		JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,963,227...138,963,312
Ensembl chr 3:118,510,194...118,510,279 		JBrowse link
G Mrps26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,222,324...138,223,987
Ensembl chr 3:117,769,100...117,770,885 		JBrowse link
G Nop56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:137,926,187...137,934,971
Ensembl chr 3:117,477,053...117,481,841 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:117,782,650...117,783,490 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Pced1a PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,049,747...138,076,107
Ensembl chr 3:117,616,921...117,622,962 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Pdyn prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Prnd prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:139,666,383...139,671,647
Ensembl chr 3:119,213,429...119,218,745 		JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES 		CTD
OMIM
ClinVar		 PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:140,077,629...140,092,327
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Ptpra protein tyrosine phosphatase, receptor type, A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,103,261...138,212,835
Ensembl chr 3:117,650,183...117,759,728 		JBrowse link
G Rassf2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:139,697,187...139,733,402
Ensembl chr 3:119,245,821...119,280,431 		JBrowse link
G Rnf24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,973,492...138,987,354
Ensembl chr 3:118,525,349...118,541,080 		JBrowse link
G Shld1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:140,391,611...140,462,273
Ensembl chr 3:119,938,833...120,009,550 		JBrowse link
G Siglec1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,740,171...138,759,966
Ensembl chr 3:118,287,988...118,306,850 		JBrowse link
G Slc23a2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:139,755,583...139,913,304
Ensembl chr 3:119,302,666...119,460,343 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,353,305...138,365,983
Ensembl chr 3:117,900,223...117,912,674 		JBrowse link
G Smox spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:139,184,793...139,220,174
Ensembl chr 3:118,731,900...118,765,710
Ensembl chr  X:118,731,900...118,765,710 		JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:137,824,870...137,832,479
Ensembl chr 3:117,370,100...117,379,339 		JBrowse link
G Spef1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,843,679...138,849,762
Ensembl chr 3:118,390,575...118,394,531 		JBrowse link
G Stk35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:137,465,884...137,498,554
Ensembl chr 3:117,016,950...117,048,066 		JBrowse link
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:137,681,809...137,717,219
Ensembl chr 3:117,228,661...117,264,075 		JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:137,771,368...137,809,000
Ensembl chr 3:117,321,489...117,354,734 		JBrowse link
G Tmc2 transmembrane channel-like 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:137,849,513...137,917,462
Ensembl chr 3:117,396,378...117,464,336 		JBrowse link
G Tmem230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:139,925,878...139,950,517
Ensembl chr 3:119,480,735...119,497,614 		JBrowse link
G Tmem239 transmembrane 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,057,799...138,059,090
Ensembl chr 3:117,603,564...117,607,125 		JBrowse link
G Trmt6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:140,527,785...140,539,520
Ensembl chr 3:120,074,911...120,086,559 		JBrowse link
G Ubox5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,259,311...138,300,807
Ensembl chr 3:117,807,092...117,847,722 		JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 3:138,075,649...138,097,154
Ensembl chr 3:117,622,542...117,646,441 		JBrowse link
Huntington's disease-like 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jph3 junctophilin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Huntington disease-like 2 | ClinVar Annotator: match by term: JPH3-related condition 		OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr19:66,702,497...66,763,948
Ensembl chr19:49,793,092...49,855,338 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 OMIM
ClinVar		 PMID:9536098 PMID:12324554 PMID:14672348 PMID:16199547 PMID:16688119 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25741868 PMID:28492532 PMID:31672324 NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nherf1 NHERF family PDZ scaffold protein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 | ClinVar Annotator: match by term: NHERF1-related condition OMIM
ClinVar		 PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598 		JBrowse link
idiopathic juvenile osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) RGD PMID:22487062 RGD:12793058 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		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 chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 OMIM
ClinVar		 PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: HNRNPA2B1-related condition | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2 		OMIM
ClinVar		 PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 More... NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 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: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 OMIM
ClinVar		 PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609 		JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egf epidermal growth factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 		CTD
ClinVar		 PMID:23455423 PMID:25741868 NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:134,375,150...134,381,609 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:23455423 RGD:10395280 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vcp valosin-containing protein ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 		CTD
ClinVar
MouseDO		 PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica 		OMIM
CTD
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
Knee Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa2 annexin A2 disease_progression ISO protein:increased expression:chondrocyte: RGD PMID:10903884 RGD:10053727 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Anxa5 annexin A5 disease_progression ISO protein:increased expression:chondrocyte: RGD PMID:10903884 RGD:10053727 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Ar androgen receptor ISO DNA:repeat:exon:c.172(CAG)8-34 (human) RGD PMID:16098017 RGD:10043199 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Aspn asporin severity ISO mRNA:increased expression:cartilage:
DNA:repeats:exon: 		RGD PMID:15640800 PMID:15640800 RGD:9684965, RGD:9684965 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:serum RGD PMID:18795399 RGD:6482710 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:20131282 RGD:6907382 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:20131282 RGD:6907382 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO
IDA 		RGD PMID:22294259 PMID:21387139 RGD:6483563, RGD:6483595 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:dorsal root ganglion: RGD PMID:23185004 RGD:8661785 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cd36 CD36 molecule disease_progression ISO
IEP 		RGD PMID:21765106 PMID:19342682 RGD:6893494, RGD:6893565 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Ctnnb1 catenin beta 1 IEP protein:increased expression:cartilage: RGD PMID:22702043 RGD:10395278 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:SNP:intron, 5' utr: (rs1062033) (human) RGD PMID:20417295 RGD:10045662 NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ameliorates IEP RGD PMID:31258642 RGD:150519887 NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 severity ISO mRNA,protein:increased expression:fat pad: RGD PMID:21765106 RGD:6893494 NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428 		JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 IMP RGD PMID:20131282 RGD:6907382 NCBI chr 1:237,794,969...237,798,650
Ensembl chr 1:228,381,521...228,385,202 		JBrowse link
G Eef1a1 eukaryotic translation elongation factor 1 alpha 1 IEP RGD PMID:25435813 RGD:13506963 NCBI chr 8:79,341,554...79,344,784
Ensembl chr 8:79,341,557...79,344,839 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO protein:increased expression:serum: RGD PMID:22275171 RGD:10401792 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Epas1 endothelial PAS domain protein 1 no_association ISO DNA:SNP:5' utr: (rs17039192) (human) RGD PMID:22247019 PMID:20495570 RGD:10395367, RGD:10395368 NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:25422652 RGD:10400892 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:repeat:promoter:-1174(TA)9-25 (human)
DNA:polymorphisms, haplotype:intron, exon
DNA:SNP:cds:c.1782G>A (rs2228480) (human)
DNA:SNPs:intron: (rs2234693, rs9340799) (human) 		RGD PMID:16098017 PMID:15380041 PMID:20128071 PMID:24772413 RGD:10043199, RGD:10045840, RGD:10045835, RGD:10045829 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 ISO DNA:repeat:intron:c.1092+3607(CA)13-27 (human) RGD PMID:16098017 RGD:10043199 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21041276 RGD:5147774 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 treatment ISO RGD PMID:27159076 RGD:11568056 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased expression:synovial fluid RGD PMID:16289733 RGD:10401830 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Hmgb1 high mobility group box 1 severity ISO protein:increased expression:synovial fluid
mRNA:decreased expression:articular cartilage 		RGD PMID:21968272 PMID:19139395 RGD:10402061, RGD:10402184 NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Hmgb2 high mobility group box 2 severity ISO mRNA:decreased expression:articular cartilage RGD PMID:19139395 PMID:19139395 RGD:10402184, RGD:10402184 NCBI chr16:32,710,651...32,713,230
Ensembl chr16:32,710,658...32,713,140
Ensembl chr 1:32,710,658...32,713,140 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO mRNA:increased expression:tibial plateaux (mouse)
mRNA:decreased expression:blood (human) 		RGD PMID:9497939 PMID:16139532 RGD:10412655, RGD:10429075 NCBI chr 6:135,523,604...135,529,687
Ensembl chr 6:129,702,383...129,707,268 		JBrowse link
G Igf1 insulin-like growth factor 1 disease_progression
severity 		ISO
IEP 		protein:decreased expression:plasma (rat)
mRNA:increased expression:meniscus: 		RGD PMID:8461919 PMID:17133593 PMID:9497937 PMID:20633672 RGD:10045862, RGD:10003130, RGD:10046057, RGD:10045868 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:8948288 RGD:10045874 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Il1a interleukin 1 alpha IEP
ISO 		protein:increased expression:cartilage cell: RGD PMID:24534736 PMID:9497937 PMID:9034998 RGD:10045944, RGD:10046057, RGD:10045946 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il2 interleukin 2 severity ISO protein:increased expression:synovial fluid: RGD PMID:22035391 RGD:5687147 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 susceptibility IDA
ISO 		DNA:repeat:intron: (rs8179190) (human) RGD PMID:18182309 PMID:24406619 RGD:2317291, RGD:10402787 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Kl Klotho susceptibility ISO DNA:SNPs:promoter,exon:395G>A,2998C>T(human) RGD PMID:18465812 RGD:10403041 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080 		JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:23575542 RGD:10411887 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor susceptibility ISO protein:increased expression:serum:
DNA:SNP:cds:668A>G(human) 		RGD PMID:23575542 PMID:23575542 RGD:10411887, RGD:10411887 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 susceptibility ISO DNA:snp:promoter:g.-2820G>A (rs10980705) (human) RGD PMID:18325907 RGD:10054291 NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895 		JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349 		JBrowse link
G Mir219a1 microRNA 219a-1 ISO CTD Direct Evidence: therapeutic CTD PMID:35962723 NCBI chr20:4,831,580...4,831,689
Ensembl chr20:4,829,687...4,829,796 		JBrowse link
G Mir223 microRNA 223 IEP RNA:increased expression:synovial membrane RGD PMID:30106113 RGD:25824950 NCBI chr  X:65,151,383...65,151,492
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mmp1 matrix metallopeptidase 1 treatment IEP RGD PMID:21167838 RGD:8549737 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ameliorates IEP RGD PMID:31258642 RGD:150519887 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IMP RGD PMID:22114772 RGD:8694098 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Penk proenkephalin treatment IEP RGD PMID:21928671 RGD:10003115 NCBI chr 5:21,981,381...21,987,074
Ensembl chr 5:17,183,806...17,189,129 		JBrowse link
G Ptges prostaglandin E synthase IEP RGD PMID:17530714 RGD:2300093 NCBI chr 3:34,575,643...34,586,987 JBrowse link
G Sbno1 strawberry notch homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr12:32,175,176...32,234,200
Ensembl chr12:32,185,485...32,230,158 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 susceptibility ISO DNA:deletion:promoter:-716_-713del4A(human) RGD PMID:11558903 RGD:13208866 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
G Tgfa transforming growth factor alpha IEP protein:increased expression:cartilage RGD PMID:17968906 RGD:2317486 NCBI chr 4:120,175,549...120,258,342
Ensembl chr 4:118,618,269...118,700,894 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699 		JBrowse link
Kohlschutter-Tonz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,645,373...11,768,462
Ensembl chr10:11,139,446...11,262,066 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806 		JBrowse link
G C10h16orf96 similar to human chromosome 16 open reading frame 96 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,707,529...10,750,893 JBrowse link
G Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891 		JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,361,168...11,386,599
Ensembl chr10:10,854,732...10,880,161 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,457,594...11,484,948
Ensembl chr10:10,951,371...10,971,578 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315 		JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370 		JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO
ISS 		ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: Epilepsy and yellow teeth | ClinVar Annotator: match by term: Kohlschutter's syndrome
OMIM:226750
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,572,146...10,574,339 JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101 		JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr10:11,424,174...11,434,681
Ensembl chr10:10,917,605...10,928,357 		JBrowse link
Kuhnt-Junius degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 ISO mRNA:increased expression:white blood cell: RGD PMID:19684010 RGD:6478714 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:9512153 PMID:16079201 RGD:7495762, RGD:7775015 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs2241394 (human) RGD PMID:22174912 RGD:7401249 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO protein:increased expression:aqueous humor of eyeball (human) RGD PMID:20937997 RGD:8548855 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte: RGD PMID:22789920 RGD:8661669 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cfi complement factor I ISO DNA:SNPs: :rs10033900, rs13117504 (human) RGD PMID:23900096 RGD:8662315 NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Crp C-reactive protein treatment ISO DNA:SNPs: :rs2808635,rs876538(human) RGD PMID:19692124 PMID:17400294 RGD:9491756, RGD:9491775 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Eln elastin no_association ISO DNA:SNPintron: rs2301995(human) RGD PMID:22065928 PMID:18326737 RGD:7387224, RGD:9585729 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fgd6 FYVE, RhoGEF and PH domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089177 NCBI chr 7:28,597,609...28,712,908
Ensembl chr 7:28,597,609...28,712,456 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 susceptibility
treatment 		ISO DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human)
protein:increased expression:vitreous: 		RGD PMID:24812550 PMID:22868384 PMID:20609706 RGD:10402108, RGD:10402118, RGD:10402116 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism::(rs1695)(human)
DNA:deletion, haplotype:: (human) 		RGD PMID:22487578 PMID:28221473 RGD:8547932, RGD:12792224 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human)
DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human) 		RGD PMID:22800422 PMID:18164066 RGD:7387322, RGD:7394724 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:aqueous humor of eyeball:
mRNA,protein:increased expression:endothelial cell: 		RGD PMID:24106111 PMID:12714661 RGD:10045867, RGD:10045893 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA,protein:increased expression:endothelial cell: RGD PMID:12714661 RGD:10045893 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO protein:increased expression:aqueous humor of eyeball: RGD PMID:24106111 RGD:10045867 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:aqueous humor: RGD PMID:22490043 RGD:7829793 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Kdr kinase insert domain receptor susceptibility ISO DNA:SNP: :rs2071559(human) RGD PMID:22919317 RGD:8549752 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO DNA:SNP:exon:p.R141L (human) RGD PMID:21236409 RGD:7387334 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:23341606 RGD:10412675 NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Mdm1 Mdm1 nuclear protein ISO DNA, mRNA:nonsense mutation, decreased expression:retina RGD PMID:18805803 RGD:10412062 NCBI chr 7:55,615,459...55,651,889
Ensembl chr 7:53,729,610...53,766,034 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:rs1801133(human) RGD PMID:22065928 RGD:7387224 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:snp:cds:c.894G>T (rs1799983) (human) RGD PMID:23276910 RGD:7771558 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:24334449 RGD:10449444 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO RGD PMID:22773904 RGD:10053644 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO protein:decreased activity:serum (human)
DNA:missense mutations:cds:p.L55M, p.Q192R (human) 		RGD PMID:19155603 PMID:20042177 RGD:8547556, RGD:8547668 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism:cds:p.V16A(rs4880)(human) RGD PMID:18573360 RGD:8158102 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO DNA:SNP: :rs943080(human)
DNA:SNP: :rs3025000(human) 		RGD PMID:23745581 PMID:23149126 RGD:7483607, RGD:7483627 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Lessel-Kubisch Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdm2 MDM2 proto-oncogene susceptibility ISO ClinVar Annotator: match by term: Lessel-kubisch syndrome | ClinVar Annotator: match by term: MDM2-related condition ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28846075 NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
Lewy body dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Anxa5 annexin A5 ISO protein:increased expression: plasma RGD PMID:23576984 RGD:10053729 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:neuron: RGD PMID:21907175 RGD:7771591 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Becn1 beclin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19628769 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO RGD PMID:15465084 RGD:1358509 NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:3,692,367...3,709,252
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Eno2 enolase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, frameshift mutation:cds:multiple (human) 		ClinVar
OMIM
CTD
RGD		 PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 More... RGD:5508424, RGD:12791014 NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr10:88,352,987...88,361,661
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Gpr37 G protein-coupled receptor 37 ISO RGD PMID:14991825 RGD:13504666 NCBI chr 4:55,104,355...55,126,420
Ensembl chr 4:54,138,870...54,161,001 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA:altered expression:brain:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:decreased expression:frontal cortex
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:19276553 PMID:19276553 RGD:5129515 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Klk6 kallikrein related-peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:94,278,863...94,286,136
Ensembl chr 1:94,280,340...94,286,121 		JBrowse link
G Mag myelin-associated glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 1:95,275,728...95,291,133
Ensembl chr 1:86,148,228...86,163,656 		JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:30236862 PMID:20024519 RGD:6483091 NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Mmrn1 multimerin 1 ISO ClinVar Annotator: match by term: Lewy body dementia ClinVar PMID:14593171 PMID:14755720 PMID:15451224 PMID:15451225 PMID:16358335 More... NCBI chr 4:89,875,408...89,950,814
Ensembl chr 4:89,903,174...89,950,474 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29368621 PMID:29391125 RGD:127284889, RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ngfr nerve growth factor receptor ISO protein:decreased expression:brain RGD PMID:8347330 RGD:10413896 NCBI chr10:81,012,077...81,030,305
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:10674474 RGD:1358529 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276553 NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: RGD PMID:20665591 RGD:10448971 NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:17467279 RGD:10412737 NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Septin4 septin 4 ISO RGD PMID:12695511 RGD:13504670 NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768 		JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Lewy Body Disease | ClinVar Annotator: match by term: Lewy body dementia
protein:decreased expression:cerebral spinal fluid:
CTD Direct Evidence: marker/mechanism
protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid 		ClinVar
CTD
OMIM
RGD		 PMID:9197268 PMID:9499430 PMID:9506559 PMID:9536098 PMID:9827625 More... RGD:6478704, RGD:13506723, RGD:6480103, RGD:6480095, RGD:6478792 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO DNA:mutations:cds:p.V70M, P123H (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia
protein:increased expression:hippocampus 		CTD
ClinVar
OMIM
RGD		 PMID:15365127 PMID:21045828 PMID:25741868 PMID:26332674 PMID:31589614 More... RGD:6219004, RGD:6480095, RGD:6478800 NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Sncg synuclein, gamma ISO protein:increased expression:hippocampus
protein:increased expression:cerebrospinal fluid 		RGD PMID:20697047 PMID:10557341 PMID:18577885 RGD:6478704, RGD:6480095, RGD:6478792 NCBI chr16:9,706,765...9,712,072
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141792 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20669025 RGD:5687180 NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30236862 NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Lewy body dementia ClinVar PMID:28492532 PMID:35741838 PMID:35896379 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 susceptibility ISO ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:2964157 PMID:3196484 PMID:9054934 PMID:9295268 PMID:9466990 More... RGD:1598551 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) RGD PMID:22387454 RGD:8694465 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241 		JBrowse link
G Apoe apolipoprotein E susceptibility
no_association 		ISO CTD Direct Evidence: marker/mechanism
DNA:haplotype:cds:
DNA:polymorphism:exon: 		CTD
RGD		 PMID:16453339 PMID:15118671 PMID:16079201 PMID:19384966 PMID:10859513 More... RGD:1331525, RGD:7775015, RGD:7771587, RGD:7771552, RGD:7495761 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177 		JBrowse link
G Bad BCL2-associated agonist of cell death severity ISO protein:increased expression:vitreous humor RGD PMID:22773904 RGD:10053644 NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO RGD PMID:20054800 RGD:10043353 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:16582908 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141 		JBrowse link
G Best1 bestrophin 1 ISO Best macular dystrophy, OMIM:153700
ClinVar Annotator: match by term: Macular dystrophy 		ClinVar
RGD		 PMID:10331951 PMID:10394929 PMID:10798642 PMID:11241846 PMID:12565808 More... RGD:1599738 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:bruch's membrane,pigmented layer of retina: RGD PMID:19158083 RGD:8699495 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123441 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G C2 complement C2 susceptibility
no_association 		ISO DNA:polymorphism
ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)
DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human)
DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human)
DNA:missense mutation:cds:p.E318D (rs9332739) (human)
DNA:SNP:intron:c.1360+62G>T (rs547154) (human)
DNA:missense mutation, SNP:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human) 		ClinVar
CTD
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 More... RGD:1600582, RGD:7411731, RGD:7411720, RGD:7411713, RGD:7411691, RGD:7411694, RGD:7411693, RGD:7411692 NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Macular degeneration
DNA:polymorphism: :p.R102G (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R102G (rs2230199) (human) 		ClinVar
CTD
RGD		 PMID:17767156 PMID:24036949 PMID:24036950 PMID:24036952 PMID:25741868 More... RGD:7401268, RGD:7411723, RGD:7411715 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036952 NCBI chr 2:57,300,510...57,348,759
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 susceptibility ISO DNA:SNPs: : RGD PMID:21169531 RGD:13524556 NCBI chr 1:186,632,334...186,728,220
Ensembl chr 1:177,201,288...177,297,024 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO mRNA,protein:increased expression:retina:
protein:increased expression:aqueous humor (human) 		RGD PMID:14566334 PMID:17652758 PMID:24142887 PMID:22172228 RGD:8548856, RGD:9491385, RGD:8661224, RGD:8549496 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 no_association ISO protein:increased expression:plasma: RGD PMID:16857270 PMID:18172114 RGD:8657363, RGD:7794843 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cd36 CD36 molecule IAGP RGD PMID:18288886 RGD:2307226 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10420194 PMID:14708629 PMID:15805154 PMID:25741868 PMID:27386845 More... NCBI chr19:51,303,414...51,353,900
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:20054800 RGD:10043353 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO RGD PMID:20054800 RGD:10043353 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675 		JBrowse link
G Cfb complement factor B no_association
susceptibility 		ISO DNA:missense mutation:cds:p.R32Q (rs641153) (human)
ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human)
DNA:missense mutation, haplotype:cds:p.L9H (rs4151667) (human)
DNA:missense mutation, SNP:cds, intron:p.R32L, c.*500T>C (rs641153, rs2072633) (human)
DNA:SNPs: :multiple
DNA:snp:intron:c.1169-69T>C (rs541862) (human) 		ClinVar
CTD
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... RGD:7411691, RGD:7411731, RGD:7411720, RGD:7411714, RGD:7411713, RGD:7411713, RGD:7411694 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cfh complement factor H susceptibility
no_association
disease_progression 		ISO ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism
DNA:SNP:cds:p.Y402H(human)
DNA:SNP: :rs1061170 (Y402H)(human)
DNA:SNP: :rs800292(human)
DNA:SNP: :rs1061170(human)
DNA:SNP: :rs1410996(human)
DNA:SNPs,Haplotype:: 		ClinVar
CTD
RGD		 PMID:16518403 PMID:16754848 PMID:17554167 PMID:21909106 PMID:22019782 More... RGD:5684552, RGD:7365036, RGD:7365035, RGD:7365034, RGD:7365033, RGD:7365022, RGD:7365021, RGD:7364999, RGD:7364995 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cfi complement factor I disease_progression
no_association 		ISO DNA:missense mutation:cds:p.G119R (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:g.110659067T>C (rs10033900) (human)
DNA:SNP:cds:c.345G>A (rs2285714) (human) 		CTD
RGD		 PMID:23685748 PMID:24036952 PMID:26691988 PMID:23685748 PMID:22815349 More... RGD:8662313, RGD:8662321, RGD:8662315 NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 More... NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065 		JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:11536077 PMID:17693388 PMID:18445228 PMID:23972307 PMID:24033266 More... NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28041643 PMID:28492532 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO DNA:frameshift mutation
ClinVar Annotator: match by term: Macular dystrophy 		ClinVar
RGD		 PMID:10508521 PMID:11389483 PMID:12700176 PMID:15024725 PMID:15459956 More... RGD:8552788 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crp C-reactive protein susceptibility ISO protein:increased expression:serum: RGD PMID:20346514 PMID:16225921 RGD:9491758, RGD:9491760 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Cryab crystallin, alpha B treatment IEP RGD PMID:25483086 RGD:13503350 NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 no_association ISO DNA:missense mutation:cds:p.T280M (human)
DNA:missense mutation:cds:p.V249I (human)
DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human)
DNA:missense mutations:cds:p.V249I, p.T280M (human) 		RGD PMID:15944936 PMID:22816662 PMID:22816662 PMID:25050486 PMID:15208270 More... RGD:9479078, RGD:9491395, RGD:9491395, RGD:9491392, RGD:9491390, RGD:9491385 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 no_association ISO protein:altered expression: : RGD PMID:17666404 PMID:12242346 PMID:17872905 RGD:10401788, RGD:10401794, RGD:10401789 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Eln elastin ISO protein:increased expression:serum: RGD PMID:16123400 RGD:9585737 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human) RGD PMID:20375340 RGD:10401085 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor onset ISO ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:16754848 PMID:18414213 PMID:25741868 PMID:28492532 PMID:21072178 RGD:10401096 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) RGD PMID:17325140 RGD:10045664 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:choroid, epithelioid cell (human) RGD PMID:9488273 RGD:8662418 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:21731737 RGD:5684426 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 More... NCBI chr10:105,634,783...105,641,322
Ensembl chr10:105,634,783...105,641,322 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy
ClinVar Annotator: match by term: Macular dystrophy | ClinVar Annotator: match by term: Macular dystrophy with or without cone dysfunction 		ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:22065924 More... NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:7803358 RGD:10401825 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:cds (human)
mRNA, protein:decreased expression:pigmented layer of retina (human) 		RGD PMID:21212706 PMID:22410570 RGD:7488954, RGD:12792247 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO mRNA, protein:decreased expression:pigmented layer of retina (human) RGD PMID:22410570 RGD:12792247 NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:15953638 More... NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:15175914 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475 		JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Hmcn1 hemicentin 1 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:25741868 PMID:28492532 NCBI chr13:62,615,461...63,084,524
Ensembl chr13:62,615,461...63,084,524 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO mRNA: increased expression: white blood cells RGD PMID:19684010 RGD:6478714 NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:41,183,264...41,187,259 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-1894G>A (rs3793917) (human)
ClinVar Annotator: match by term: Macular degeneration 		ClinVar
RGD		 PMID:18164066 PMID:18316707 PMID:20437615 PMID:25741868 PMID:26242991 More... RGD:7394695 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Il17a interleukin 17A susceptibility ISO DNA:snps:promoter, 3' utr:c.-197G>A, c.*1249C>T (rs2275913, rs3748067) (human)
protein:increased expression: serum (human) 		RGD PMID:25028103 PMID:21762495 RGD:9068445, RGD:9068453 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 PMID:28492532 PMID:32581362 NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:20673862 PMID:24876279 PMID:28492532 PMID:30718709 NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
G Kdr kinase insert domain receptor treatment ISO DNA:SNPs:: rs4576072,rs6828477(human) RGD PMID:21731737 PMID:24365177 RGD:5684426, RGD:8549717 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO RGD PMID:24939308 RGD:9588663 NCBI chr18:66,449,196...66,516,112
Ensembl chr18:64,174,002...64,240,794 		JBrowse link
G Mir184 microRNA 184 ISO CTD Direct Evidence: therapeutic CTD PMID:35690295 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210 		JBrowse link
G Mir23a microRNA 23a ISO RNA:decreased expression:retinal pigment epithelial cell: RGD PMID:21693609 RGD:10053591 NCBI chr19:40,859,769...40,859,843
Ensembl chr19:23,954,997...23,955,071 		JBrowse link
G Mmp2 matrix metallopeptidase 2 susceptibility
no_association 		ISO DNA:silent mutation:cds:c.1380G>A (rs2287074) (human)
DNA:SNP:promoter:-1306C>T (rs243865) (human) 		RGD PMID:18359774 PMID:23536957 RGD:8657039, RGD:8657041 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:vitreous humor RGD PMID:22490043 PMID:22773904 RGD:7829793, RGD:10053644 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:SNP, haplotype:cds:m.11812A>G (human) RGD PMID:19434233 RGD:5508704 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human) RGD PMID:21559389 PMID:23276910 RGD:10412682, RGD:7771558 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:missense mutation, haplotype:cds:c.609C>T (rs1800566) (human) RGD PMID:23276910 RGD:7771558 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Parp12 poly (ADP-ribose) polymerase family, member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr 4:67,826,548...67,885,356
Ensembl chr 4:67,839,237...67,883,685 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pon1 paraoxonase 1 susceptibility
no_association 		ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human)
DNA:missense mutations:cds:p.L55M, p.Q192R (rs662, rs854560) (human)
protein:decreased activity:serum (human)
DNA:snps:promoter, 5' utr:multiple (human) 		RGD PMID:23538572 PMID:15774926 PMID:15488805 PMID:23432778 PMID:22956172 RGD:8547549, RGD:8547659, RGD:8547582, RGD:8547561, RGD:8547551 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO DNA:snps:exon, 3' utr:g.76874A>G, g.*2381A>G (rs3736265, rs3774923) (human) RGD PMID:23335958 RGD:7241840 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.R172W(human)
ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy
DNA:deletion:cds: 		ClinVar
RGD		 PMID:279751 PMID:8111389 PMID:8302543 PMID:8485575 PMID:8485576 More... RGD:8553205, RGD:8553231 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Macular dystrophy | ClinVar Annotator: match by term: Macular dystrophy with or without cone dysfunction ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:22065924 More... NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular dystrophy 		CTD
ClinVar		 PMID:12160730 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Samd7 sterile alpha motif domain containing 7 ISO ClinVar Annotator: match by term: Macular dystrophy with or without cone dysfunction ClinVar
OMIM		 PMID:38272031 NCBI chr 2:112,623,135...112,644,269
Ensembl chr 2:112,624,942...112,639,549 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma (human) RGD PMID:17675241 RGD:8547755 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Serpinf1 serpin family F member 1 ISO
IEP 		protein:decreased expression:optic choroid (human)
mRNA:altered expression:retina (rat) 		RGD PMID:16019000 PMID:21191149 RGD:8554867, RGD:8655542 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Serping1 serpin family G member 1 no_association
susceptibility 		ISO DNA:SNP:intron:c.1029+312T>C (rs11603020) (human)
DNA:SNPs:introns:c.52-130C>T, c.1030-865C>T (rs1005510, rs2511989) (human)
DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human)
DNA:SNPs: :multiple 		RGD PMID:21852020 PMID:20606025 PMID:20606025 PMID:21526158 PMID:20576771 More... RGD:8661263, RGD:8661640, RGD:8661640, RGD:8661639, RGD:8661638, RGD:8661264 NCBI chr 3:90,249,410...90,259,299
Ensembl chr 3:69,842,739...69,852,034 		JBrowse link
G Sirt1 sirtuin 1 ISO mRNA:decreased expression:retina RGD PMID:21890195 RGD:9585773 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr 7:112,698,701...112,702,496
Ensembl chr 7:110,818,274...110,822,069 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO protein:increased expression:serum (human) RGD PMID:16844785 PMID:23848218 RGD:1581207, RGD:8655651 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:17898259 RGD:8158047 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23922739 NCBI chr10:35,026,598...35,037,750
Ensembl chr10:34,525,519...34,536,673 		JBrowse link
G Srsf10 serine and arginine rich splicing factor 10 ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr 5:148,088,759...148,102,964
Ensembl chr 5:148,088,823...148,101,768 		JBrowse link
G Thrb thyroid hormone receptor beta ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association 		ISO DNA:polymorphism:exon:p.D299G(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :p.D299G,T399I(human)
DNA:SNP:: rs4986790(human) 		CTD
RGD		 PMID:15829498 PMID:15829498 PMID:18172114 PMID:19628747 RGD:7794837, RGD:7794843, RGD:7794842 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21909106 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tra2b transformer 2 beta ISO protein:increased expression:retina (human) RGD PMID:24098751 RGD:11038792 NCBI chr11:78,788,880...78,807,252
Ensembl chr11:78,788,884...78,807,249 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25097241 PMID:25741868 PMID:28492532 PMID:30718709 PMID:33964006 NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418 		JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:26992781 PMID:35947183 NCBI chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Macular degeneration
ClinVar Annotator: match by term: Macular dystrophy 		ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15788408 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Macular dystrophy | ClinVar Annotator: match by term: Macular dystrophy with or without cone dysfunction ClinVar PMID:16269441 PMID:17512964 PMID:19011012 PMID:21151602 PMID:23591405 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480 		JBrowse link
Macular Degeneration, Early-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: FBN2-related condition | ClinVar Annotator: match by term: Macular degeneration, early-onset OMIM
ClinVar		 PMID:9536098 PMID:11754102 PMID:16199547 PMID:16835936 PMID:17345643 More... NCBI chr18:53,696,197...53,901,992
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
Macular Dystrophy with Central Cone Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Macular dystrophy with central cone involvement OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17564970 PMID:17576681 PMID:19177532 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
macular retinal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H ISO associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: RGD PMID:16080911 RGD:2315548 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO associated with Diabetic Retinopathy;protein:increased expression:vitreous humor
associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human) 		RGD PMID:19118698 PMID:22066978 RGD:2306981, RGD:7829760 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Clu clusterin ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor RGD PMID:23568601 RGD:9068396 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Epo erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus;protein:increased expression:aqueous humor RGD PMID:17505145 RGD:8655594 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: RGD PMID:24894397 RGD:10402117 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human) RGD PMID:35799735 RGD:155582223 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Il6 interleukin 6 ISO associated with Retinal vein occlusion;protein:increased expression:vitreous:
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) 		RGD PMID:22066978 PMID:35799735 RGD:7829760, RGD:155582223 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Kdr kinase insert domain receptor ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor RGD PMID:23411880 RGD:8549772 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Mir210 microRNA 210 ISO associated with central retinal vein occlusion;miRNA:increased expression:aqueous humor of eyeball (human) RGD PMID:35799735 RGD:155582223 NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:196,326,337...196,326,454 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD PMID:29654250 NCBI chr  X:8,379,569...8,404,019
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) RGD PMID:15333482 RGD:7775044 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human)
associated with Diabetes Mellitus, Experimental; human protein in a rat model 		RGD PMID:20714746 PMID:21139695 RGD:8554903, RGD:8655546 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with retinal vein occlusion;protein:increased expression:vitreous humor
associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;protein:increased expression:aqueous humor 		CTD
RGD		 PMID:20577866 PMID:23411880 PMID:35799735 PMID:17505145 RGD:8549772, RGD:155582223, RGD:8655594 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit susceptibility ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome ClinVar
OMIM		 PMID:7704014 PMID:9536098 PMID:17576681 PMID:19966286 PMID:21157497 More... NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465 		JBrowse link
Mandibuloacral Dysplasia Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtx2 metaxin 2 ISO ClinVar Annotator: match by term: Mandibuloacral dysplasia progeroid syndrome | ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia OMIM
ClinVar		 PMID:25741868 PMID:32917887 NCBI chr 3:59,730,206...59,792,202
Ensembl chr 3:59,730,197...59,792,201 		JBrowse link
MAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO
ISS 		ClinVar Annotator: match by term: Mast syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE
OMIM:248900
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:6024251 PMID:9536098 PMID:14564668 PMID:16199547 PMID:17576681 More... NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536 		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 chr11:24,019,778...24,236,561 		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 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:18938189 RGD:10054050 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		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:152,201,098...152,220,801 		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 2:120,004,862...120,009,566 		JBrowse link
Nestor-Guillermo progeria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf1 barrier to autointegration nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome OMIM
ClinVar		 PMID:21549337 PMID:23720404 PMID:25741868 PMID:28492532 NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658 		JBrowse link
North Carolina macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type | ClinVar Annotator: match by term: North Carolina macular dystrophy ClinVar PMID:9238090 PMID:9801042 PMID:9924305 PMID:10617775 PMID:25741868 More... NCBI chr 5:35,220,815...35,232,866
Ensembl chr 5:35,225,435...35,232,881 		JBrowse link
nuclear senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO DNA:SNP: :rs9939609 (human) RGD PMID:19329528 RGD:329845885 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
occult macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Occult macular dystrophy ClinVar PMID:25741868 NCBI chr 1:152,416,252...152,472,923
Ensembl chr 1:152,416,252...152,472,923 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Occult macular dystrophy ClinVar PMID:8486634 PMID:20591486 PMID:25265376 PMID:25741868 PMID:28492532 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: OMD | ClinVar Annotator: match by term: Occult macular dystrophy | ClinVar Annotator: match by term: RP1L1-related condition OMIM
ClinVar		 PMID:3442652 PMID:12724644 PMID:20826268 PMID:22277662 PMID:22466457 More... NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316 		JBrowse link
osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr18:70,620,310...70,648,417
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acan aggrecan treatment ISO
IEP 		RGD PMID:22833446 PMID:21853458 RGD:11570535, RGD:11570544 NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Aco1 aconitase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391 		JBrowse link
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:16,776,664...16,779,634
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G Adam12 ADAM metallopeptidase domain 12 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 1:198,116,968...198,443,680
Ensembl chr 1:188,686,989...189,020,667 		JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO RGD PMID:15818704 RGD:1559176 NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113 		JBrowse link
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO DNA:missense mutation:cds: (rs4747096) (human) RGD PMID:18790654 RGD:6771189 NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866 		JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 treatment ISO associated with Bone Diseases, Metabolic RGD PMID:22432033 RGD:10043110 NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065 		JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 treatment
disease_progression
no_association 		ISO
IEP
IMP 		associated with Bone Diseases, Metabolic
mRNA:increased expression:cartilage
protein:alternative form:synovium
DNA:missense mutations:exon: (rs226794, rs2830585) (human)
DNA:missense mutation:exon:p.R614H (human) 		RGD PMID:23982761 PMID:22432033 PMID:17530714 PMID:22084394 PMID:23954517 More... RGD:10043101, RGD:10043110, RGD:2300093, RGD:10003165, RGD:10043107, RGD:10043106, RGD:10043105, RGD:10043103, RGD:10043102 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205 		JBrowse link
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment IEP
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16948116 PMID:23894457 RGD:8695985 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Ak4 adenylate kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:116,039,222...116,099,064
Ensembl chr 5:116,039,616...116,098,618 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr17:70,720,397...70,747,285
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24728293 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Aspn asporin no_association ISO DNA:repeats:exon:
CTD Direct Evidence: marker/mechanism 		OMIM
CTD
RGD		 PMID:16542493 RGD:9684966 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr16:25,384,254...25,408,388
Ensembl chr16:20,617,518...20,641,745 		JBrowse link
G Atp7a ATPase copper transporting alpha ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Bad BCL2-associated agonist of cell death ISO RGD PMID:19217321 RGD:10053643 NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Bag6 BAG cochaperone 6 susceptibility ISO DNA:SNP: :rs3117582(human) RGD PMID:25231575 RGD:14390133 NCBI chr20:3,680,607...3,693,329
Ensembl chr20:3,675,938...3,688,657 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:chondrocyte RGD PMID:19217321 PMID:16864079 RGD:10053643, RGD:10054095 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO protein:increased expression:chondrocyte RGD PMID:19217321 PMID:16864079 RGD:10053643, RGD:10054095 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:cartilage RGD PMID:20187128 PMID:20187128 RGD:6483317, RGD:6483317 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein disease_progression ISO RGD PMID:20157712 RGD:6483599 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bmp2 bone morphogenetic protein 2 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616 		JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16690336 NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105 		JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:29138829 RGD:13782343 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:29138829 RGD:13782343 Ensembl chr 5:154,109,046...154,126,626 JBrowse link
G Cav1 caveolin 1 IEP RGD PMID:16508959 RGD:10043354 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO protein:increased expression:plasma: RGD PMID:19942450 RGD:10054497 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO protein:increased expression:synovial membrane: RGD PMID:19942450 RGD:10054497 NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056 		JBrowse link
G Cd36 CD36 molecule susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment IEP RGD PMID:24009074 RGD:10043190 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta susceptibility ISO RGD PMID:22095691 RGD:10401214 NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Cilp cartilage intermediate layer protein disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251 		JBrowse link
G Clec3b C-type lectin domain family 3, member B disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 8:122,810,120...122,815,837
Ensembl chr 8:122,810,149...122,815,835 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712 		JBrowse link
G Clic4 chloride intracellular channel 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:147,453,702...147,513,455
Ensembl chr 5:147,453,712...147,513,452 		JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 PMID:18784066 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association ISO DNA:SNP:intron:IVS1 RGD PMID:10743824 RGD:5688331 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col2a1 collagen type II alpha 1 chain onset
treatment 		ISO
IDA 		DNA:missense mutation:exon:p.R75C (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:9061443 PMID:16189708 PMID:16755660 PMID:19216861 RGD:8657384, RGD:8661226 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670472 NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:197,527,467...197,539,488 		JBrowse link
G Ctsk cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 2:185,747,548...185,758,512
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:17,465,210...17,467,255
Ensembl chr14:17,181,062...17,183,075 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Dapp1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:229,099,319...229,148,868
Ensembl chr 2:226,425,898...226,475,423 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:24938620 RGD:150429973 NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Dpep1 dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257 		JBrowse link
G Dpysl2 dihydropyrimidinase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:45,181,041...45,287,065
Ensembl chr15:41,005,551...41,111,829 		JBrowse link
G Edil3 EGF like repeats and discoidin domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:19,890,396...20,405,028
Ensembl chr 2:19,890,373...20,405,008 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:8,533,116...8,559,183 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 IEP mRNA:increased expression:articular cartilage of joint (rat) RGD PMID:31396630 RGD:42722015 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:10806043 RGD:1626498 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:166,002,867...166,014,252
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:layer of synovial tissue, stromal cell
mRNA:increased expression:cartilage 		RGD PMID:21869830 PMID:12823854 PMID:20495569 PMID:20495569 RGD:10395364, RGD:10395366, RGD:10395365, RGD:10395365 NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO mRNA:decreased expression:knee, articular cartilage of joint RGD PMID:24964749 RGD:10045611 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Erg ETS transcription factor ERG ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871 		JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282 		JBrowse link
G Esd esterase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:50,043,634...50,063,134
Ensembl chr15:50,043,632...50,063,144 		JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:SNP:intron: (rs2234693) (human)
DNA:SNPs:introns: (rs2234693, rs9340799) (human) 		RGD PMID:20417295 PMID:19884274 RGD:10045662, RGD:10045830 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 ISO DNA:SNP:intron: (rs1256031) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:64,731,192...64,787,965
Ensembl chr 8:55,835,134...55,891,969 		JBrowse link
G Ezr ezrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8254199 RGD:5147984 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr10:18,210,240...18,241,929
Ensembl chr10:17,706,174...17,736,818 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22393163 RGD:10402075 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA:increased expression:trabecular bone: RGD PMID:15781004 RGD:10402109 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:cartilage: RGD PMID:8646429 RGD:10402156 NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Frzb frizzled-related protein susceptibility ISO ClinVar Annotator: match by term: Osteoarthritis | ClinVar Annotator: match by term: Osteoarthritis susceptibility 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15210948 PMID:25741868 NCBI chr 3:85,739,162...85,772,168
Ensembl chr 3:65,332,277...65,365,208 		JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:105,072,858...105,074,705
Ensembl chr 1:95,936,387...95,939,725
Ensembl chr10:95,936,387...95,939,725
Ensembl chr 2:95,936,387...95,939,725 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO
ISS 		ClinVar Annotator: match by term: Osteoarthritis susceptibility 5
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:17384641 PMID:18830904 PMID:25741868 PMID:28492532 PMID:30664745 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Gh1 growth hormone 1 ISO protein:increased expression:plasma RGD PMID:7152485 RGD:10003140 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghr growth hormone receptor ISO DNA:deletion:exon: RGD PMID:23740230 RGD:10003113 NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Gls glutaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 9:56,836,584...56,908,861
Ensembl chr 9:49,344,781...49,416,900 		JBrowse link
G Gstk1 glutathione S-transferase kappa 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:72,085,532...72,089,934
Ensembl chr 4:71,118,896...71,123,292 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:31,907,801...31,947,434
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO RGD PMID:22586168 RGD:10402054 NCBI chr 6:54,257,118...54,283,373
Ensembl chr 6:48,529,372...48,555,787 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30651232 RGD:14746965 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 9:56,082,082...56,161,796
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 PMID:18789153 RGD:10395366, RGD:10402406 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:22330250 RGD:10401949 NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:63,867,882...63,887,223
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Ifna1 interferon, alpha 1 treatment IEP RGD PMID:30456844 RGD:36174218 NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:103,097,356...103,097,925 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor severity ISO mRNA:increased expression:articular cartilage of joint: RGD PMID:8609369 RGD:10045889 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:increased expression:cartilage RGD PMID:22527881 RGD:10402552 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:18775662 RGD:10402575 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO
IEP 		protein:increased expression:cartilage RGD PMID:24786088 PMID:24786088 RGD:12910979, RGD:12910979 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:chonodrocyte: RGD PMID:9497936 RGD:10047053 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta treatment IEP
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21954917 PMID:37943572 PMID:22890185 RGD:7207218 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il4r interleukin 4 receptor ISO protein:increased expression:serum RGD PMID:16647277 RGD:10402785 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22035391 RGD:5687147 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Immt inner membrane mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:103,880,482...103,919,116
Ensembl chr 4:103,880,459...103,919,109 		JBrowse link
G Ins2 insulin 2 ISO protein:increased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Isoc2b isochorismatase domain containing 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:68,972,960...68,993,760
Ensembl chr 1:68,972,960...68,993,757 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:18354251 RGD:6482239 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Lep leptin severity ISO protein:increased expression:tibia, cartilage, chondrocyte (human) RGD PMID:14613274 RGD:10053634 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lgals3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34894372 NCBI chr15:23,099,795...23,111,731
Ensembl chr15:20,607,692...20,632,025 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 PMID:12379497 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Matn3 matrilin 3 susceptibility ISO
ISS 		ClinVar Annotator: match by term: Osteoarthritis susceptibility 2
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
MouseDO
CTD		 PMID:12736871 PMID:14729835 PMID:25741868 PMID:28492532 NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
G Mir146a microRNA 146a ISO mRNA:decreased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610 		JBrowse link
G Mir34a microRNA 34a treatment ISO
IMP 		mRNA:increased expression:knee, hip (human) RGD PMID:30048987 PMID:30048987 RGD:152177909, RGD:152177909 NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO
IEP 		mRNA, protein:increased expression:cartilage RGD PMID:16128596 PMID:11134178 PMID:17530714 PMID:23982761 PMID:22890185 RGD:7207089, RGD:10043117, RGD:2300093, RGD:10043101, RGD:7207218 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:synovial fluid (human) RGD PMID:15194590 RGD:7207131 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:synovial fluid (human) RGD PMID:16128596 PMID:15194590 RGD:7207089, RGD:7207131 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Msn moesin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:60,996,043...61,064,011
Ensembl chr  X:60,995,951...61,065,628 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO RGD PMID:24651621 PMID:22084394 RGD:10003163, RGD:10003165 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Mvp major vault protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:191,025,259...191,052,866
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G Myh13 myosin heavy chain 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951 		JBrowse link
G Myl3 myosin light chain 3 ISS MouseDO NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D IEP protein:increased expression:spinal cord RGD PMID:20722027 RGD:10412653 NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748 		JBrowse link
G Ncor2 nuclear receptor co-repressor 2 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:210,569,823...210,573,707
Ensembl chr 1:201,140,585...201,144,511 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:210,729,856...210,735,103
Ensembl chr 1:201,299,985...201,305,466 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 treatment IEP RGD PMID:34738623 RGD:329328930 NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Ngf nerve growth factor treatment IMP RGD PMID:33806315 PMID:25677108 RGD:402463969, RGD:402463970 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:79,394,999...79,400,418
Ensembl chr10:78,897,770...78,903,538
Ensembl chr20:78,897,770...78,903,538 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035 		JBrowse link
G Pdcd6ip programmed cell death 6 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:122,469,223...122,524,993
Ensembl chr 8:113,590,998...113,646,773 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 IEP mRNA:increased expression:tibia (rat) RGD PMID:21864409 RGD:6771362 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO mRNA:increased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Plcd1 phospholipase C, delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186 		JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
G Pls3 plastin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Pomc proopiomelanocortin ISO RGD PMID:21378032 RGD:5508809 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Pou3f3 POU class 3 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 9:44,945,872...44,948,998
Ensembl chr 9:44,945,872...44,948,992 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:69,213,198...69,232,441
Ensembl chr 1:60,540,194...60,560,129 		JBrowse link
G Psmb1 proteasome 20S subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:56,442,432...56,463,544
Ensembl chr 1:56,420,618...56,463,560 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:SNP (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:32004530 PMID:15334463 RGD:1625347 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:33,311,155...33,314,339
Ensembl chr12:27,674,050...27,678,276 		JBrowse link
G Rcn3 reticulocalbin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:104,700,969...104,710,228
Ensembl chr 1:95,564,380...95,573,725 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16948116 NCBI chr 2:178,388,529...178,390,838
Ensembl chr 2:176,091,804...176,093,254 		JBrowse link
G Scrn1 secernin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:83,632,125...83,694,225
Ensembl chr 4:83,632,131...83,693,852 		JBrowse link
G Sdcbp syndecan binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:19,473,499...19,517,188
Ensembl chr 5:19,489,961...19,527,572 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sec23a Sec23 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035 		JBrowse link
G Serpina1 serpin family A member 1 IEP RGD PMID:20434574 RGD:2324964 NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Sgcg sarcoglycan, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18973239 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Smad3 SMAD family member 3 ISO
ISS 		CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:21217753 PMID:22772368 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 PMID:18784066 PMID:22108257 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tent5a terminal nucleotidyltransferase 5A susceptibility ISO DNA:repeats: : RGD PMID:25231575 RGD:14390133 NCBI chr 8:95,102,349...95,109,100
Ensembl chr 8:86,225,357...86,229,045 		JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981 		JBrowse link
G Tlr8 toll-like receptor 8 ISO ClinVar Annotator: match by term: Osteoarthritis ClinVar NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b IEP RGD PMID:14872496 RGD:2290500 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tnfsf10 TNF superfamily member 10 IEP RGD PMID:14872496 RGD:2290500 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135 		JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981 		JBrowse link
G Trim2 tripartite motif-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:169,500,628...169,652,855
Ensembl chr 2:169,500,634...169,652,927 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21964574 NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
G Txnrd1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:22,717,620...22,802,553
Ensembl chr 7:20,830,045...20,907,863 		JBrowse link
G Vdac2 voltage-dependent anion channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:2,512,214...2,526,105
Ensembl chr15:2,463,056...2,476,553 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16876394 PMID:18784066 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:40,935,714...40,966,240
Ensembl chr 6:40,935,949...40,966,273 		JBrowse link
Osteoarthritis with Mild Chondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1905723 PMID:1975693 PMID:1985108 PMID:7695699 PMID:7757086 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Osteoarthritis, Experimental term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Becn1 beclin 1 treatment IEP RGD PMID:23589102 RGD:11561955 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:19404941 RGD:9068434 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp6 caspase 6 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502 		JBrowse link
G Casp7 caspase 7 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729 		JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:25128628 RGD:11041187 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 treatment IEP RGD PMID:25975052 RGD:150429975 NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22833219 RGD:10402072 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:23041435 RGD:10402106 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A treatment IMP RGD PMID:16394269 RGD:10402538 NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 IEP mRNA:decreased expression:knee RGD PMID:24754147 RGD:10412054 NCBI chr14:79,876,002...79,888,011
Ensembl chr14:75,651,376...75,665,414 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment IEP RGD PMID:23589102 RGD:11561955 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 IEP RGD PMID:29364174 RGD:13800565 NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP protein:decreased expression:skeletal joint RGD PMID:31742919 RGD:40924673 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014 		JBrowse link
G Serpinf1 serpin family F member 1 severity ISO RGD PMID:28122611 RGD:27226703 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Ulk1 unc-51 like autophagy activating kinase 1 treatment IEP RGD PMID:23589102 RGD:11561955 NCBI chr12:51,511,492...51,537,746
Ensembl chr12:45,851,710...45,877,966 		JBrowse link
Osteoarthritis, Hip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 IEP mRNA:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205 		JBrowse link
G Aspn asporin ISO mRNA:increased expression:cartilage: RGD PMID:15640800 RGD:9684965 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G Astn2 astrotactin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273 		JBrowse link
G Chadl chondroadherin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28319091 PMID:30374069 NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272 		JBrowse link
G Col10a1 collagen type X alpha 1 chain IEP mRNA, protein:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association
susceptibility 		ISO DNA:SNP:intron:g.2046G>T (human) RGD PMID:17187661 PMID:9811048 PMID:15880349 RGD:5688305, RGD:5688330, RGD:5688306 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28319091 NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387 		JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:SNP:intron:g.-397T>C (human) RGD PMID:17419075 RGD:10045661 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Filip1 filamin A interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 8:80,761,283...80,956,556
Ensembl chr 8:80,764,604...80,922,549 		JBrowse link
G Frzb frizzled-related protein ISO ClinVar Annotator: match by term: OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO ClinVar PMID:15210948 NCBI chr 3:85,739,162...85,772,168
Ensembl chr 3:65,332,277...65,365,208 		JBrowse link
G Ghr growth hormone receptor ISO associated with Acromegaly;DNA:deletion:exon: RGD PMID:19864451 RGD:10003142 NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Hdac9 histone deacetylase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333 		JBrowse link
G Hfe homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Il11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 PMID:30664745 NCBI chr 1:78,098,622...78,104,915
Ensembl chr 1:69,068,137...69,076,129 		JBrowse link
G Il4r interleukin 4 receptor susceptibility
no_association 		ISO DNA:SNPs:multiple
DNA:missense mutations:cds:p.S411L, p.S727A (rs1805013, rs1805016) (human) 		RGD PMID:14745651 PMID:19036616 RGD:10402782, RGD:10402784 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Itih1 inter-alpha trypsin inhibitor, heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr16:6,122,246...6,136,363
Ensembl chr16:6,122,248...6,136,363 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP mRNA, protein:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Tnc tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO RGD PMID:10700189 RGD:10047094 NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Ace angiotensin I converting enzyme IMP associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Actg1 actin, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G Adcy5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chr11:78,976,861...79,123,343
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO
IEP 		mRNA:increased expression:proximal end of left femur (rat) RGD PMID:21542009 PMID:22036861 RGD:6767561, RGD:7245948 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr14:11,845,774...11,986,166
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Anxa2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Ar androgen receptor treatment IDA
ISO 		RGD PMID:14600402 PMID:18847323 RGD:10043196, RGD:10043198 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Atm ATM serine/threonine kinase ISO RGD PMID:16644862 RGD:10047420 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:26869358 RGD:14696735 NCBI chr16:76,144,150...76,153,063
Ensembl chr16:76,144,150...76,153,063 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:22648569 RGD:10054093 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:22648569 RGD:10054093 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein treatment
susceptibility 		IDA
IEP
ISO 		associated with alcohol use disorder
DNA:SNP, haplotype:promoter:g.-298C>T (human)
associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum 		RGD PMID:21550389 PMID:29698972 PMID:23137636 PMID:15108065 RGD:6483552, RGD:598092493, RGD:10045665, RGD:6483579 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bmp2 bone morphogenetic protein 2 treatment ISO
IEP 		associated with alcohol use disorder RGD PMID:17002564 PMID:29698972 RGD:1625350, RGD:598092493 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36453845 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Calca calcitonin-related polypeptide alpha ISO RGD PMID:2502220 RGD:734677 NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105 		JBrowse link
G Calcr calcitonin receptor susceptibility ISO DNA:SNP:cds:g.1340T>C (human)
ClinVar Annotator: match by term: CALCR-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:9003491 PMID:9571205 PMID:9817931 PMID:25741868 PMID:28492532 More... RGD:10045665 NCBI chr 4:32,615,955...32,691,075
Ensembl chr 4:31,661,273...31,736,392 		JBrowse link
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:135,142,108...135,168,885
Ensembl chr 5:135,142,112...135,168,769 		JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
G Cct2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:52,692,725...52,705,478
Ensembl chr 7:52,692,725...52,706,944 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISS OMIM:166710 MouseDO NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Clec11a C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chr 1:103,938,029...103,941,170
Ensembl chr 1:94,801,496...94,804,633 		JBrowse link
G Col1a1 collagen type I alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL
associated with Beta-Thalassemia;DNA:SNP:intron:g.2046G>T (human)
DNA:SNP, haplotype:intron:g.2046G>T (human) 		OMIM
ClinVar
CTD
RGD		 PMID:1770532 PMID:2037280 PMID:2542316 PMID:2794057 PMID:2894346 More... RGD:11041180, RGD:10045665 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1978725 PMID:2010058 PMID:2985635 PMID:7695699 PMID:7860070 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Ctsk cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chr 2:185,747,548...185,758,512
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chr 1:255,476,861...255,484,547
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:20723554 PMID:17002564 RGD:1625350 NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383 		JBrowse link
G Daam2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chr 9:18,926,620...19,044,672
Ensembl chr 9:11,428,724...11,545,497 		JBrowse link
G Dbp D-box binding PAR bZIP transcription factor ISO RGD PMID:17002564 RGD:1625350 NCBI chr 1:105,312,256...105,317,205
Ensembl chr 1:96,175,440...96,180,745 		JBrowse link
G Dspp dentin sialophosphoprotein IEP protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chr14:5,870,232...5,876,339
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:166,002,867...166,014,252
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23281008 RGD:10045609 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Esr1 estrogen receptor 1 no_association
treatment 		ISO
IEP 		DNA:SNP:intron:397T>C (human)
DNA:repeat:5' utr:g.-1174(TA)10-27 (human)
DNA:SNP:exon:2014G>A (human)
DNA:repeat:intron:IVS5+225(CA)18-25 (human)
DNA:SNPs:intron: (rs2234693, rs9340799) (human)
DNA:SNP, haplotype:intron:g.938C>T (human) 		RGD PMID:23137636 PMID:21421090 PMID:17953702 PMID:17953702 PMID:10773580 More... RGD:10045665, RGD:10045841, RGD:10045839, RGD:10045839, RGD:10045834, RGD:8694129, RGD:10045828, RGD:10045826, RGD:10045825 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility
treatment 		ISO
IEP 		DNA:SNP, haplotypes: :-1213T>C (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:3' utr: g.dupCA (human) 		RGD PMID:16777502 PMID:21421090 PMID:16530497 PMID:16955786 PMID:22948905 RGD:1626507, RGD:10045841, RGD:10045825, RGD:8694129, RGD:7364765 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Esrra estrogen related receptor, alpha ISO RGD PMID:19936213 RGD:10401868 NCBI chr 1:213,533,309...213,543,432
Ensembl chr 1:204,104,101...204,114,268 		JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:170,672,169...170,679,572
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:170,693,966...170,700,875
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gh1 growth hormone 1 IEP associated with Diabetes Mellitus, Experimental RGD PMID:1466160 RGD:10003132 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghr growth hormone receptor treatment IEP associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
associated with Cholestasis 		RGD PMID:17647196 PMID:19424739 RGD:10003128, RGD:10003131 NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Golm1 golgi membrane protein 1 treatment ISO protein:increased expression:serum RGD PMID:30396165 PMID:30396165 RGD:401827113, RGD:401827113 NCBI chr17:4,995,925...5,044,329
Ensembl chr17:4,996,104...5,034,057 		JBrowse link
G Gorab golgin, RAB6-interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298 		JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chr15:100,437,415...101,435,038
Ensembl chr15:94,029,884...95,024,006 		JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human) RGD PMID:24593045 RGD:10401929 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Hfe homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Id4 inhibitor of DNA binding 4 ISS OMIM:166710 MouseDO NCBI chr17:16,595,724...16,598,293
Ensembl chr17:16,389,387...16,392,470 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISS OMIM:166710 MouseDO NCBI chr 1:16,152,811...16,171,439
Ensembl chr 1:14,333,187...14,351,785 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO
IEP 		associated with Diabetes Mellitus, Experimental
associated with Cholestasis
associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast 		RGD PMID:10499542 PMID:1466160 PMID:19424739 PMID:17647196 RGD:10003127, RGD:10003132, RGD:10003131, RGD:10003128 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment IDA RGD PMID:12162999 RGD:10402555 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Il1a interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:22997530 RGD:7204491 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Irak3 interleukin-1 receptor-associated kinase 3 ISS OMIM:166710 MouseDO NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121 		JBrowse link
G Irs1 insulin receptor substrate 1 IEP mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Irs2 insulin receptor substrate 2 IEP associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle: RGD PMID:22820932 RGD:7207063 NCBI chr16:85,190,310...85,214,543
Ensembl chr16:78,485,045...78,512,482 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9363890 PMID:9363890 RGD:10403047 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080 		JBrowse link
G Lep leptin treatment ISO
IDA
IEP 		associated with chronic obstructive pulmonary disease; protein:decreased expression:serum
human protein in a rat model
protein:increased expression:serum (rat) 		RGD PMID:21376149 PMID:11459801 PMID:12609558 PMID:24250662 RGD:5128771, RGD:10053630, RGD:10053615, RGD:10053572 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphisms:cds:p.K109R,Q223R(human) RGD PMID:23460508 RGD:10411886 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO
IEP 		ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis 		ClinVar
CTD
RGD		 PMID:9536098 PMID:11719191 PMID:11793484 PMID:12015390 PMID:12579474 More... RGD:1625350, RGD:7240519, RGD:12793063 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chr 8:119,878,344...119,901,189
Ensembl chr 8:110,999,948...111,022,795 		JBrowse link
G Ly6a lymphocyte antigen 6 family member A ISS OMIM:166710 MouseDO NCBI chr 7:107,177,191...107,189,436
Ensembl chr 7:107,183,469...107,189,981 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 treatment IMP RGD PMID:18442314 RGD:10045965 NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Mgll monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:122,749,436...122,851,440
Ensembl chr 4:121,192,195...121,294,179 		JBrowse link
G Mir152 microRNA 152 IEP miRNA:increased expression:femur RGD PMID:31492082 RGD:21066345 NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor IDA RGD PMID:22704852 RGD:7240519 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nog noggin ISO RGD PMID:12975477 RGD:10414323 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:28289185 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:54,963,964...55,112,303
Ensembl chr 2:53,236,368...53,384,714 		JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:166,636,551...166,659,825
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Pcna proliferating cell nuclear antigen IEP protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Pdlim4 PDZ and LIM domain 4 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr10:38,699,444...38,713,696
Ensembl chr10:38,198,689...38,212,938 		JBrowse link
G Pgghg protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:196,038,276...196,044,561
Ensembl chr 1:196,039,103...196,044,372 		JBrowse link
G Pgls 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr16:18,300,317...18,305,803
Ensembl chr16:18,300,317...18,305,803 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 8:68,949,731...68,975,394
Ensembl chr 8:60,057,402...60,079,599 		JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:91,397,015...91,429,693
Ensembl chr14:91,397,019...91,454,131 		JBrowse link
G Pls3 plastin 3 ISS
ISO 		OMIM:166710
ClinVar Annotator: match by term: X-linked osteoporosis with fractures 		MouseDO
ClinVar		 PMID:24088043 PMID:25741868 NCBI chr  X:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:26,644,147...26,651,808
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111 		JBrowse link
G Psma2 proteasome 20S subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:50,554,536...50,564,923
Ensembl chr17:50,551,924...50,564,938 		JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731 		JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment IMP RGD PMID:16442794 RGD:10043381 NCBI chr 2:56,061,699...56,074,594
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G Pth parathyroid hormone treatment IDA
ISO
IEP 		CTD Direct Evidence: therapeutic
protein:decreased expression:serum (rat) 		CTD
RGD		 PMID:15710971 PMID:17317460 PMID:17882678 PMID:19578808 PMID:21306167 More... RGD:7242793, RGD:7242907 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Rab7b Rab7b, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr13:45,673,396...45,699,798
Ensembl chr13:43,121,226...43,147,581 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454 		JBrowse link
G Runx2 RUNX family transcription factor 2 treatment IEP associated with alcohol use disorder RGD PMID:29698972 RGD:598092493 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 PMID:29150909 PMID:30968248 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Sirt1 sirtuin 1 treatment IDA
IMP 		RGD PMID:22555620 PMID:25377437 RGD:10047129, RGD:10053568 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility
no_association 		ISO DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, exon, intron:multiple 		CTD
RGD		 PMID:18924182 PMID:26336112 PMID:26336112 RGD:11035299, RGD:11035299 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Terc telomerase RNA component ISS OMIM:166710 MouseDO NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP
ISO 		associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:12706579 PMID:17647196 RGD:10003128 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tln1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO RGD PMID:17002564 RGD:1625350 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B treatment ISO
IEP
ISS 		CTD Direct Evidence: marker/mechanism
associated with alcohol use disorder
OMIM:166710 		CTD
MouseDO
RGD		 PMID:17667143 PMID:29698972 RGD:598092493 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:17002564 RGD:1625350 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO
ISS 		OMIM:166710
CTD Direct Evidence: therapeutic 		MouseDO
CTD
RGD		 PMID:17882678 PMID:17002564 RGD:1625350 NCBI chr15:60,083,008...60,114,479
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr16:17,718,442...17,732,483
Ensembl chr16:17,683,195...17,705,984 		JBrowse link
G Tuba1b tubulin, alpha 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:130,090,663...130,093,644
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Tuba1c tubulin, alpha 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr 7:130,192,050...130,199,655
Ensembl chr 7:130,192,016...130,199,647
Ensembl chr  X:130,192,016...130,199,647 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832 		JBrowse link
G Vcl vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr15:3,315,069...3,404,891
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
G Vdr vitamin D receptor no_association ISO
ISS 		associated with Cystic Fibrosis
OMIM:166710 		MouseDO
RGD		 PMID:16713399 RGD:4889871 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chr14:76,470,238...76,504,086
Ensembl chr14:72,257,956...72,291,766 		JBrowse link
G Wnt1 Wnt family member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO 		CTD
ClinVar		 PMID:23499309 PMID:23656646 PMID:25741868 PMID:27450065 PMID:28492532 More... NCBI chr 7:131,817,558...131,821,605
Ensembl chr 7:129,938,604...129,942,651 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905 		JBrowse link
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay OMIM
ClinVar		 PMID:25741868 PMID:29036432 PMID:34450031 PMID:37734708 NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197 		JBrowse link
Otofaciocervical Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Otofaciocervical syndrome 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9020840 PMID:9361030 PMID:10464653 PMID:10655545 PMID:10991693 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Pax1 paired box 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:155,244,961...155,254,836
Ensembl chr 3:134,789,182...134,801,636 		JBrowse link
Otofaciocervical Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Otofaciocervical syndrome 2 | ClinVar Annotator: match by term: PAX1-related condition OMIM
ClinVar		 PMID:1889089 PMID:23851939 PMID:25741868 PMID:28492532 PMID:28657137 More... NCBI chr 3:155,244,961...155,254,836
Ensembl chr 3:134,789,182...134,801,636 		JBrowse link
Parkinson's disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snca synuclein alpha ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4
OMIM:605543
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9197268 PMID:9499430 PMID:9506559 PMID:9827625 PMID:10417297 More... NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
patterned macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691986 NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:116,808,429...116,842,228
Ensembl chr 8:107,929,762...107,963,568 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G167D(human)
DNA:mutation:splice junction:
DNA:deletion,insertion:cds: 		ClinVar
CTD
RGD		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7825692 More... RGD:8553221, RGD:8554864, RGD:8553238, RGD:8553236 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
patterned macular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO
ISS 		ClinVar Annotator: match by term: Patterned macular dystrophy 1
OMIM:169150 		OMIM
ClinVar
MouseDO		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7710395 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
patterned macular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO
ISS 		ClinVar Annotator: match by term: CTNNA1-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 2
OMIM:608970 		OMIM
ClinVar
MouseDO		 PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 More... NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910 		JBrowse link
patterned macular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: MAPKAPK3-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 3 OMIM
ClinVar		 PMID:25741868 PMID:26744326 PMID:28492532 NCBI chr 8:116,808,429...116,842,228
Ensembl chr 8:107,929,762...107,963,568 		JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9056558 PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 More... NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
Pick's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf2 activating transcription factor 2 ISO RGD PMID:16496165 RGD:10047401 NCBI chr 3:79,125,814...79,202,896
Ensembl chr 3:58,718,332...58,795,236 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:decreased expression:frontal cortex RGD PMID:16496165 PMID:17548164 RGD:10047401, RGD:10047402 NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased expression:frontal cortex RGD PMID:17548164 RGD:10047402 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:95,872,747...95,987,747
Ensembl chr10:95,373,204...95,488,293 		JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease 		CTD
OMIM
ClinVar		 PMID:2273997 PMID:8673924 PMID:9382467 PMID:9629852 PMID:9641683 More... NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: PICK DISEASE | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7596406 PMID:7623585 PMID:7651536 PMID:8538334 PMID:8634712 More... NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:18091558 RGD:5687194 NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 ClinVar
OMIM		 PMID:3681354 PMID:6681564 PMID:12080485 PMID:12754369 PMID:12883936 More... NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:12,647,259...12,654,170 		JBrowse link
Postmenopausal Osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant IEP protein:increased expression:femur (rat) RGD PMID:19736603 RGD:2315910 NCBI chr 8:28,939,984...28,946,639
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
G Ar androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Bmp15 bone morphogenetic protein 15 susceptibility ISO DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human) RGD PMID:22335445 RGD:10045849 NCBI chr  X:18,840,943...18,846,006
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:1463018 PMID:1978725 PMID:2010058 PMID:2052622 PMID:2985635 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Esr1 estrogen receptor 1 treatment
susceptibility 		ISO DNA:SNP:intron:IVS1T>C (human)
DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human) 		RGD PMID:16604479 PMID:16972020 RGD:8158082, RGD:10045838 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:SNP: :-1213T>C (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:intron:IVS5-3919(CA)18-26 (human) 		RGD PMID:16777502 PMID:22335445 PMID:17945165 RGD:1626507, RGD:10045849, RGD:10045847 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IMP
ISO 		RGD PMID:24023068 PMID:18067744 RGD:10402191, RGD:10402540 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il7 interleukin 7 treatment ISO RGD PMID:23662133 RGD:10402930 NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:94,234,766...94,280,075 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:24715757 PMID:25741868 PMID:28492532 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 treatment IEP RGD PMID:31399090 RGD:329328926 NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Nrip1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761 		JBrowse link
G Pgghg protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chr 1:196,038,276...196,044,561
Ensembl chr 1:196,039,103...196,044,372 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 NCBI chr  X:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment IMP RGD PMID:11917107 RGD:10003045 NCBI chr 2:56,061,699...56,074,594
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Ptk2b protein tyrosine kinase 2 beta IMP RGD PMID:17537919 RGD:1642610 NCBI chr15:44,536,275...44,656,754
Ensembl chr15:40,360,723...40,481,282 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vdr vitamin D receptor treatment ISO DNA:SNP:exon: (rs2228570) (human) GAD
RGD		 PMID:15118671 PMID:16604479 RGD:1331525, RGD:8158082 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Premature Aging term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23129026 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Arhgap1 Rho GTPase activating protein 1 ISO RGD PMID:17227869 RGD:10043350 NCBI chr 3:77,621,377...77,643,400
Ensembl chr 3:77,620,655...77,643,396 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:21359432 RGD:6480478 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO RGD PMID:21359432 RGD:6480478 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO RGD PMID:16847346 RGD:10043345 NCBI chr 1:176,766,222...176,864,741
Ensembl chr 1:167,331,633...167,430,231 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO RGD PMID:12533509 RGD:10059406 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
G Bub3 BUB3 mitotic checkpoint protein ISO RGD PMID:16476774 RGD:10059413 NCBI chr 1:186,330,358...186,340,969
Ensembl chr 1:186,327,931...186,395,036 		JBrowse link
G Cdc14b cell division cycle 14B ISO RGD PMID:21262768 RGD:10059338 NCBI chr17:850,272...938,972
Ensembl chr17:844,685...933,235 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:23207764 RGD:10043192 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO protein:increased expression:skin RGD PMID:21108731 PMID:23207764 RGD:10043189, RGD:10043192 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Coq7 coenzyme Q7, hydroxylase ISO RGD PMID:19478076 RGD:10402088 NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO RGD PMID:17872905 RGD:10401789 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Eif5a2 eukaryotic translation initiation factor 5A2 ISO RGD PMID:21612665 RGD:10395359 NCBI chr 2:113,656,748...113,674,598
Ensembl chr 2:111,729,323...111,746,087 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:22323595 RGD:10045610 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25440059 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 IEP mRNA:decreased expression:brain (rat) RGD PMID:22339633 RGD:13208511 NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO mRNA:decreased expression:liver: RGD PMID:18729070 PMID:19500727 RGD:10044240, RGD:10045876 NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Foxo1 forkhead box O1 ISO RGD PMID:23673876 RGD:10045361 NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790 		JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO protein:decreased expression:cerebral cortex RGD PMID:16542809 PMID:21903878 RGD:10401826, RGD:10401863 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Hells helicase, lymphoid specific ISO RGD PMID:15105378 RGD:10402190 NCBI chr 1:236,701,704...236,748,239
Ensembl chr 1:236,701,758...236,746,844 		JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:adipose tissue RGD PMID:21828285 RGD:10043099 NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO RGD PMID:22976834 RGD:10402865 NCBI chr 4:117,114,631...117,117,793
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA:decreased expression:liver: RGD PMID:19500727 RGD:10045876 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9363890 PMID:25550330 PMID:9363890 RGD:10403047 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080 		JBrowse link
G Mapt microtubule-associated protein tau ISO protein:hyperphosphorylation:brain: RGD PMID:16171847 RGD:10412708 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO RGD PMID:23766372 RGD:10412052 NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Mt1 metallothionein 1 ISO RGD PMID:18410310 RGD:10412323 NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
Ensembl chr  X:10,826,032...10,827,049 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:19443193 RGD:10412691 NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nudt1 nudix hydrolase 1 ISO mRNA, protein:decreased expression:hippocampus RGD PMID:21538080 RGD:10449033 NCBI chr12:19,416,411...19,423,448
Ensembl chr12:14,302,694...14,305,826 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO RGD PMID:15164064 RGD:8694320 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Tp53 tumor protein p53 ISO mRNA:decreased expression:liver: RGD PMID:19500727 RGD:10045876 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wrn WRN RecQ like helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21267443 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO RGD PMID:19014358 RGD:10043096 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
preretinal fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timp1 TIMP metallopeptidase inhibitor 1 ISO RGD PMID:11004090 RGD:2312481 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:11004090 RGD:2312481 NCBI chr10:104,041,604...104,089,214
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO RGD PMID:11004090 RGD:2312481 NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
Presbycusis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G Actg1l1 actin, gamma 1 like 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 3:72,977,767...72,979,691
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G Aqp4 aquaporin 4 severity ISO RGD PMID:19070604 RGD:8695953 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Bdnf brain-derived neurotrophic factor IEP mRNA:decreased expression:cochlea RGD PMID:17168119 RGD:8655551 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO mRNA, protein:decreased expression:cochlea RGD PMID:23470431 RGD:10045570 NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,228,306...5,668,215 		JBrowse link
G Cat catalase ISO RGD PMID:11678164 RGD:8655636 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cdh23 cadherin-related 23 no_association ISO DNA:SNP:intron:g.72996763C>T (rs7087735) (human) RGD PMID:12910270 PMID:22581638 RGD:737781, RGD:8662287 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Edn1 endothelin 1 susceptibility ISO DNA:missense mutation:cds:p.L198N (rs5370) (human) RGD PMID:19358249 RGD:8661662 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association 		ISO DNA:deletion:cds (human) RGD PMID:17513527 PMID:15891640 RGD:7495801, RGD:7495803 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association 		ISO DNA:deletion:cds (human) RGD PMID:22965834 PMID:15891640 RGD:7794838, RGD:7495803 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO RGD PMID:24587312 RGD:10402574 NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO RGD PMID:22652460 RGD:8662870 NCBI chr 9:49,879,928...49,920,374
Ensembl chr 9:42,384,433...42,424,725 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism: : RGD PMID:16369173 RGD:8552649 NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO RGD PMID:21664445 RGD:8694161 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Sirt3 sirtuin 3 IEP protein:decreased expression:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 IEP protein:altered expression:cochlear outer hair cell (rat) RGD PMID:19111601 RGD:9585690 NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289 		JBrowse link
G Sod1 superoxide dismutase 1 severity ISO mRNA:increased expression:cochlea (mouse) RGD PMID:11678164 PMID:10464373 RGD:8655636, RGD:8655665 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 IEP protein:decreased expression,decreased activity:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO DNA:mutation:cds:c.533C>T (p.S178L)(human) RGD PMID:24729539 RGD:11537394 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tyr tyrosinase treatment
onset 		ISO associated with Albinism; RGD PMID:19843244 PMID:19141317 RGD:8694324, RGD:8694327 NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
Presenile and Senile Dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:1303239 PMID:1303275 PMID:1415269 PMID:1679289 PMID:2111584 More... NCBI chr11:37,506,207...37,724,351
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:10194428 PMID:10660483 PMID:11336458 PMID:12377814 PMID:19159930 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:23126199 RGD:7193138 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Psen2 presenilin 2 ISO ClinVar Annotator: match by term: Presenile and senile dementia ClinVar PMID:7186461 PMID:14623725 PMID:15663477 PMID:17186461 PMID:17345043 More... NCBI chr13:94,499,451...94,528,419
Ensembl chr13:91,967,983...91,993,174 		JBrowse link
primary progressive aphasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grn granulin precursor ISO ClinVar Annotator: match by term: Primary progressive aphasia ClinVar PMID:6497355 PMID:12794388 PMID:16862116 PMID:16950801 PMID:17202431 More... NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to ClinVar PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More... NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
progeria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27217151 NCBI chr20:18,601,307...19,224,790
Ensembl chr20:18,602,786...19,086,300 		JBrowse link
G Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 ISO RGD PMID:20726853 RGD:10401221 NCBI chr17:26,148,652...26,159,358
Ensembl chr17:26,148,633...26,215,720 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Hutchinson-Gilford syndrome ClinVar PMID:8797827 PMID:9579555 PMID:20221251 PMID:21228398 PMID:21612988 More... NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:20805469 PMID:20805469 RGD:10003141, RGD:10003141 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO RGD PMID:20805469 RGD:10003141 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Lmna lamin A/C ISO
ISS 		ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome
OMIM:176670
CTD Direct Evidence: marker/mechanism
DNA:silent mutation:cds:c.1824C>T (human)
DNA:missense mutations, silent mutation:cds:multiple
DNA:missense mutation:exon:p.K542N (1626G>C) human
DNA:missense mutations:cds:multiple 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:262236 PMID:1849984 PMID:2007407 PMID:2733290 PMID:4740717 More... RGD:12791022, RGD:10003159, RGD:10003158, RGD:10003156, RGD:10003154, RGD:737720 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648921 NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		JBrowse link
G Sirt6 sirtuin 6 ISS OMIM:176670 MouseDO NCBI chr 7:8,733,056...8,738,543
Ensembl chr 7:8,082,364...8,098,914 		JBrowse link
G Sprtn SprT-like N-terminal domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261934 NCBI chr19:52,857,612...52,864,864
Ensembl chr19:52,857,866...52,864,864 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity ISO RGD PMID:22541428 RGD:10044242 NCBI chr12:15,396,378...15,441,277
Ensembl chr12:15,396,381...15,441,571 		JBrowse link
G Vcpip1 valosin containing protein interacting protein 1 ISS OMIM:176670 MouseDO NCBI chr 5:9,534,247...9,560,889
Ensembl chr 5:9,534,129...9,562,040 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:176670 		CTD
MouseDO		 PMID:23217256 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
Progeria Syndrome, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset ClinVar PMID:11015599 PMID:11503164 PMID:11792811 PMID:12629077 PMID:12927431 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
progressive non-fluent aphasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Primary progressive non fluent aphasia ClinVar NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:57,077,830...57,110,892 		JBrowse link
Radial Drusen, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
retinal drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H susceptibility ISO DNA:SNPs: :p.Y402H, rs1410996(human)
DNA:mutations:multiple: 		RGD PMID:18936151 PMID:22491393 RGD:7365005, RGD:7365010 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
retinal macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Macular dystrophy, retinal ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
retinal macular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Retinal macular dystrophy type 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3442652 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
retinal macular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec3b C-type lectin domain family 3, member B ISO ClinVar Annotator: match by term: Macular dystrophy, retinal, 4 OMIM
ClinVar		 PMID:35331648 NCBI chr 8:122,810,120...122,815,837
Ensembl chr 8:122,810,149...122,815,835 		JBrowse link
retinitis pigmentosa 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Macular dystrophy, concentric annular 		ClinVar
RGD		 PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 More... RGD:7829711 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy ClinVar PMID:22968130 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25270190 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 More... NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
Ruijs-Aalfs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sprtn SprT-like N-terminal domain ISO ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome | ClinVar Annotator: match by term: SPRTN-related condition OMIM
ClinVar		 PMID:12503110 PMID:25261934 PMID:25741868 PMID:28492532 NCBI chr19:52,857,612...52,864,864
Ensembl chr19:52,857,866...52,864,864 		JBrowse link
Sarcopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 severity IEP RNA:increased expression:plantaris muscle: RGD PMID:17029665 RGD:2325745 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Ak1 adenylate kinase 1 IEP protein:increased expression:gastrocnemius muscle (rat) RGD PMID:17611631 RGD:5147990 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ar androgen receptor treatment ISO
IDA 		RGD PMID:24177288 PMID:17049844 RGD:10043306, RGD:10043311 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha IEP protein:increased localization:gastrocnemius (rat) RGD PMID:20850499 RGD:13703063 NCBI chr18:73,567,537...73,575,473
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA:decreased expression:plantaris RGD PMID:17029665 RGD:2325745 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:decreased expression:plantaris RGD PMID:17029665 RGD:2325745 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Cav1 caveolin 1 severity ISO DNA:SNP:intron:14713G>A (rs3807987) (human) RGD PMID:24815842 RGD:10045568 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment ISO RGD PMID:20022929 RGD:10043356 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO protein:increased expression:thigh muscle (mouse) RGD PMID:21982926 RGD:10401269 NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO mRNA:increased expression:vastus lateralis muscle (human) RGD PMID:15687482 RGD:10401226 NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon IDA RGD PMID:15187001 RGD:10395315 NCBI chr11:93,898,814...93,909,431
Ensembl chr11:80,394,433...80,404,419 		JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha IEP RGD PMID:15187001 RGD:10395315 NCBI chr 6:103,405,880...103,430,549
Ensembl chr 6:97,672,766...97,706,225 		JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr12:25,345,239...25,360,135
Ensembl chr12:19,708,558...19,723,377 		JBrowse link
G Foxo4 forkhead box O4 IEP RGD PMID:16870627 RGD:10402356 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:66,385,558...66,392,115 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:12919235 RGD:10045859 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:12919235 RGD:10045859 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Mfn2 mitofusin 2 IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Nfkbia NFKB inhibitor alpha IEP protein:increased expression:soleus RGD PMID:15665035 RGD:10413861 NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:altered expression:gastrocnemius muscle (rat) RGD PMID:16870628 RGD:10053649 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr20:30,378,542...30,399,076
Ensembl chr20:30,378,550...30,399,054 		JBrowse link
semantic dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Semantic dementia ClinVar PMID:25741868 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase susceptibility ISO DNA:SNP:3' UTR: (rs4585) (human) RGD PMID:29156695 RGD:126790564 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Cat catalase treatment ISO protein:decreased activity:serum: RGD PMID:23781296 PMID:16129095 RGD:9068934, RGD:10003112 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO RGD PMID:21501079 RGD:10045354 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility
no_association 		ISO DNA:missense mutation:cds:p.D312N (human)
DNA:missense mutation:cds:p.K751Q (human) 		RGD PMID:24868140 PMID:21599457 RGD:10401084, RGD:10401083 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:16129095 RGD:10003112 NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:16129095 RGD:10003112 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:10892871 RGD:8547933 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B susceptibility ISO DNA:SNP: :1267A>G (human) RGD PMID:23666708 RGD:8662462 NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Mt2 metallothionein 2 ISO RGD PMID:9804143 RGD:10412648 NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:16251120 RGD:8552653 NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:cds:p.S326C (human) RGD PMID:24868140 RGD:10401084 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Sirt1 sirtuin 1 ISO RGD PMID:21501079 RGD:10045354 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Wrn WRN RecQ like helicase susceptibility
no_association 		ISO DNA:missense mutation:cds:p.C1367R (rs1346044) (human) RGD PMID:23334603 PMID:20808731 RGD:10042984, RGD:10042985 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds:p.G399A (human) RGD PMID:21599457 RGD:10401083 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome OMIM
ClinVar		 PMID:9536098 PMID:14216462 PMID:16080123 PMID:16199547 PMID:17576681 More... NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:47,227,364...47,275,456 		JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:47,227,364...47,275,456 		JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar		 PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:55,321,235...55,370,819 		JBrowse link
Sorsby's fundus dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Sorsby fundus dystrophy | ClinVar Annotator: match by term: TIMP3-related condition ClinVar PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO
ISS 		ClinVar Annotator: match by term: Sorsby fundus dystrophy | ClinVar Annotator: match by term: TIMP3-related condition
OMIM:136900
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
Spine Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr10:17,184,853...17,187,646 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Sporadic Creutzfeldt-Jakob Disease 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 RGD PMID:19151623 RGD:10395347 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 ISO RGD PMID:15571982 RGD:10401946 NCBI chr 2:167,348,824...167,398,983
Ensembl chr 2:167,348,825...167,398,916 		JBrowse link
G Mapt microtubule-associated protein tau ISO protein:increased expression:CSF, serum (human) RGD PMID:27929120 RGD:127284887 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:CSF (human) RGD PMID:27929120 RGD:127284887 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Nefl neurofilament light chain severity ISO protein:increased expression:CSF, serum (human)
protein:increased expression:CSF (human) 		RGD PMID:27929120 PMID:29391125 RGD:127284887, RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum (human) RGD PMID:27929120 RGD:127284887 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma ISO protein:increased expression:CSF (human) RGD PMID:27929120 RGD:127284887 NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827 		JBrowse link
Stargardt disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease
OMIM:248200 | OMIM:600110 | OMIM:603786 		CTD
ClinVar
MouseDO		 PMID:248200 PMID:2552515 PMID:2916264 PMID:2955595 PMID:2984763 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:12891548 PMID:18482588 PMID:19467940 PMID:20537830 PMID:23022423 More... NCBI chr 4:26,106,895...26,164,440
Ensembl chr 4:25,151,953...25,209,202 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21109774 PMID:21192766 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:14681825 PMID:16199547 PMID:23591405 PMID:24043777 PMID:25741868 More... NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: STGD
ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease 		ClinVar PMID:3442652 PMID:15161866 PMID:15223812 PMID:15657609 PMID:15712225 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:16752401 PMID:20513134 PMID:28492532 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:10508521 PMID:22065545 PMID:23379534 PMID:25412400 PMID:25741868 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 PMID:28492532 PMID:29555955 PMID:30718709 PMID:32533067 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISS OMIM:248200 | OMIM:600110 | OMIM:603786 MouseDO NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: STGD ClinVar PMID:25326637 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:27428514 PMID:28492532 NCBI chr 2:218,337,215...218,360,318
Ensembl chr 2:218,337,819...218,357,307 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: STGD ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:11440988 PMID:11440989 PMID:20157015 PMID:20952381 PMID:23384603 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:4543597 PMID:20398884 PMID:20398886 PMID:24339724 PMID:26496393 More... NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Stargardt disease
ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease 		ClinVar PMID:9536098 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease
ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease 		ClinVar PMID:279751 PMID:3441139 PMID:4142662 PMID:7493155 PMID:7519821 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: STGD ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: STGD ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:30718709 NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Stargardt disease ClinVar PMID:25741868 PMID:32531858 NCBI chr20:6,412,170...6,424,103
Ensembl chr20:6,412,171...6,424,073 		JBrowse link
Stargardt Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 susceptibility
treatment 		ISO ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
DNA:mutation:exon:c.2041C>T(human)
DNA:mutations:multiple: 		OMIM
ClinVar
RGD		 PMID:248200 PMID:2552515 PMID:2916264 PMID:2955595 PMID:2964157 More... RGD:7829716, RGD:7815046, RGD:7815046, RGD:7815045 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:12891548 PMID:18482588 PMID:20537830 PMID:23533021 PMID:25741868 More... NCBI chr 4:26,106,895...26,164,440
Ensembl chr 4:25,151,953...25,209,202 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 ClinVar PMID:12215968 PMID:12910490 PMID:17314340 PMID:19162478 PMID:19389488 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21109774 PMID:21192766 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 		ClinVar PMID:1347967 PMID:3442652 PMID:10888875 PMID:10958649 PMID:12815043 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:11440988 PMID:11440989 PMID:20157015 PMID:20952381 PMID:23384603 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 		ClinVar PMID:279751 PMID:3441139 PMID:4142662 PMID:7493155 PMID:7519821 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:25741868 NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
Stargardt Disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Stargardt disease 3 ClinVar PMID:3002862 PMID:9054934 PMID:9503029 PMID:9781034 PMID:9973280 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Stargardt disease 3
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:5048218 PMID:11138005 PMID:15028284 PMID:15557430 PMID:22948568 More... NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO mRNA,protein:increased expression:optic cup: RGD PMID:22199241 RGD:10402074 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
Stargardt Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Stargardt Disease, Dominant ClinVar NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Stargardt Disease, Dominant | ClinVar Annotator: match by term: Stargardt disease 4
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3181667 PMID:3253185 PMID:3442652 PMID:9634506 PMID:10205271 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
Subretinal Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO RGD PMID:24790857 RGD:10402815 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:24790857 RGD:10402815 NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
Temporomandibular Joint Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177 		JBrowse link
G Becn1 beclin 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Casp12 caspase 12 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 disease_progression IEP RGD PMID:28147322 RGD:155791443 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 4:104,363,838...104,425,271
Ensembl chr 4:102,805,510...102,866,911 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,330,654...91,421,029 		JBrowse link
G Fas Fas cell surface death receptor IEP mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta IEP RGD PMID:31007149 RGD:34888237 NCBI chr19:66,571,631...66,582,270
Ensembl chr19:49,665,791...49,677,690
Ensembl chr16:49,665,791...49,677,690 		JBrowse link
G Rps6 ribosomal protein S6 IEP RGD PMID:31007149 RGD:34888237 NCBI chr 5:106,417,680...106,420,540
Ensembl chr 5:101,371,136...101,374,602
Ensembl chr 5:101,371,136...101,374,602 		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 chr11:24,019,778...24,236,561 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO RGD PMID:24448401 RGD:14696801 NCBI chr18:73,567,537...73,575,473
Ensembl chr18:71,292,374...71,300,794 		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 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477 		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 3:117,793,457...117,795,425 		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 3:96,165,042...96,215,615 		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 4:157,412,692...157,423,484 		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 chr19:23,520,741...23,823,225 		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 chr14:81,418,236...81,464,116 		JBrowse link
G Cdk5 cyclin-dependent kinase 5 treatment IEP RGD PMID:27118553 RGD:13792766 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112 		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 chr11:3,337,494...3,385,181 		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 chr16:78,183,533...78,294,412 		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 chr16:78,047,602...78,183,839 		JBrowse link
G Colgalt1 collagen beta(1-O)galactosyltransferase 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr16:18,319,796...18,332,106
Ensembl chr16:18,319,795...18,332,106 		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 9:65,903,547...65,970,816 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:28492532 PMID:35307828 NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		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 8:104,767,788...104,877,317 		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 2:227,066,673...227,098,683 		JBrowse link
G Epo erythropoietin IEP RGD PMID:17037738 RGD:10400891 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		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 chr16:66,494,042...66,547,350 		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 chr12:7,297,292...7,468,626 		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 2:210,347,482...210,367,535 		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 8:109,026,905...109,028,024 		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 3:8,103,680...8,130,603 		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 chr10:5,631,369...6,044,637 		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 4:168,599,546...169,042,279 		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 chr11:62,504,316...62,648,646 		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 chr20:3,856,006...3,873,227 		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 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		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 7:22,282,930...22,359,296 		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 1:121,550,743...121,831,777 		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 3:116,577,010...116,583,415 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:33268848 NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359 		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 chr11:83,957,813...84,023,616 		JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:27118553 RGD:13792766 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mir143 microRNA 143 treatment
exacerbates 		ISO
IDA 		RGD PMID:36459592 PMID:36459592 RGD:155882588, RGD:155882588 NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP RGD PMID:16385583 RGD:1582624 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		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 5:158,465,296...158,483,797 		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 5:158,884,804...158,994,311 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr13:65,105,950...65,277,350
Ensembl chr13:65,105,950...65,278,484 		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 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		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:97,279,056...97,302,236 		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 5:158,429,042...158,430,351 		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 chr17:5,559,043...5,869,136 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
G Pde9a phosphodiesterase 9A treatment ISO RGD PMID:30916555 RGD:242905183 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		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 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.C311S (human) RGD PMID:11803456 RGD:1580219 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248 		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 3:119,177,485...119,203,937 		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 chr13:91,967,983...91,993,174 		JBrowse link
G Rpgrip1l Rpgrip1-like susceptibility ISO DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) RGD PMID:22425971 RGD:13204815 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		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 5:101,371,136...101,374,602
Ensembl chr 5:101,371,136...101,374,602 		JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19465911 NCBI chr 1:85,576,207...85,577,156
Ensembl chr 1:85,576,041...85,577,366
Ensembl chr 1:85,576,041...85,577,366 		JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711 		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 chr18:67,243,742...67,274,438 		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 4:89,696,420...89,796,262 		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 chr16:9,700,514...9,705,368 		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 7:113,663,202...113,720,848 		JBrowse link
G Sst somatostatin IEP protein:decreased expression:brain RGD PMID:18925713 RGD:2303174 NCBI chr11:90,461,546...90,462,823
Ensembl chr11:76,956,896...76,958,173 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504 		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 4:41,327,994...41,345,619 		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 chr20:3,622,011...3,624,629 		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 chr10:54,300,048...54,311,524 		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 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796 		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 chr10:13,621,136...13,655,951 		JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714 		JBrowse link
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Vascular dementia ClinVar PMID:35307828 NCBI chr  X:17,853,086...17,856,505
Ensembl chr  X:17,853,114...17,856,505 		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 1:213,901,999...214,128,555 		JBrowse link
vitelliform macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152 		CTD
MouseDO		 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152 		CTD
MouseDO		 NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Vitelliform macular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds:112del(human)
DNA:polymorphisms,haplotype:cds:p.E304Q,G338D(human) 		ClinVar
CTD
RGD		 PMID:25741868 PMID:28492532 PMID:32531846 PMID:15370544 PMID:12566026 More... RGD:8553221, RGD:8554859, RGD:8553239 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
Vitelliform Macular Dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:10737974 PMID:10854112 PMID:17065513 PMID:18289629 PMID:21436265 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 ClinVar PMID:24033266 PMID:24130771 PMID:25077172 PMID:25741868 PMID:26467025 More... NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
Vitelliform Macular Dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Best Macular Dystrophy | ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 OMIM
ClinVar		 PMID:838599 PMID:2133066 PMID:2162627 PMID:2868784 PMID:3145629 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:2133066 PMID:10394929 PMID:10453731 PMID:10737974 PMID:10788642 More... NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Best vitelliform macular dystrophy, multifocal | ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 ClinVar PMID:1427912 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7862413 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
Vitelliform Macular Dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 ClinVar NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Adult onset vitelliform dystrophy | ClinVar Annotator: match by term: Macular dystrophy, vitelliform, adult-onset | ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 OMIM
ClinVar		 PMID:1427912 PMID:3441139 PMID:4142662 PMID:7519821 PMID:7862413 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
Vitelliform Macular Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: IMPG1-related condition | ClinVar Annotator: match by term: Vitelliform macular dystrophy 4 OMIM
ClinVar		 PMID:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:28644393 More... NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
Vitelliform Macular Dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Macular dystrophy, retinal, 5 ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:24033266 PMID:25741868 More... NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,843,437...12,863,396 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: IMPG2-related condition | ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 OMIM
ClinVar		 PMID:2864439 PMID:9536098 PMID:17576681 PMID:20673862 PMID:24876279 More... NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
Werner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:19741171 RGD:10402544 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Lmna lamin A/C ISO atypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human) RGD PMID:12927431 RGD:12791031 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Werner syndrome ClinVar PMID:25741868 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Purg purine-rich element binding protein G ISO ClinVar Annotator: match by term: Werner syndrome ClinVar NCBI chr16:58,732,327...58,763,356
Ensembl chr16:58,720,335...58,763,359 		JBrowse link
G Wrn WRN RecQ like helicase ISO
ISS 		ClinVar Annotator: match by term: Werner syndrome
OMIM:277700
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8037212 PMID:8602509 PMID:8968742 PMID:9012406 PMID:9048918 More... RGD:1580825 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
Wiedemann-Rautenstrauch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome OMIM
ClinVar		 PMID:614258 PMID:12605447 PMID:16007586 PMID:16199547 PMID:19938095 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome ClinVar PMID:4076251 PMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 More... NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549 		JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: MMP14-related condition | ClinVar Annotator: match by term: Winchester syndrome | ClinVar Annotator: match by term: Winchester-Grossman syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4238825 PMID:9536098 PMID:17480005 PMID:17576681 PMID:22922033 More... NCBI chr15:31,857,824...31,867,049
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:9536098 PMID:11431697 PMID:16458924 PMID:17576681 PMID:19019335 More... NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045603, RGD:10045601 NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946 		JBrowse link
G Cisd3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550 		JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406 		JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179 		JBrowse link
X-linked atrophic macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic OMIM
ClinVar		 PMID:8673101 PMID:12160730 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    Diseases of the Aged 1479
      Premature Aging + 72
      Presbycusis + 20
      Sarcopenia 22
      dementia + 879
      late-adult onset retinitis pigmentosa 0
      macular degeneration + 163
      osteoarthritis + 254
      osteoporosis + 330
      senile cataract + 18
paths to the root