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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:lysosomal storage disease
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Accession:DOID:3211 term browser browse the term
Definition:An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. (DO)
Synonyms:exact_synonym: disorder of lysosomal enzyme;   inborn lysosomal enzyme disorder;   lysosomal enzyme disorder;   lysosomal enzyme disorders;   lysosomal storage diseases;   lysosomal storage metabolism disorder
 primary_id: MESH:D016464
 xref: NCI:C61250
For additional species annotation, visit the Alliance of Genome Resources.



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lysosomal storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGA aspartylglucosaminidase susceptibility ISO RGD PMID:1703489 RGD:1598773 NCBI chr 4:169,624,480...169,635,810
Ensembl chr 4:181,855,136...181,870,473
JBrowse link
G CTSA cathepsin A ISO RGD PMID:8514852 RGD:1599169 NCBI chr20:42,229,064...42,237,627
Ensembl chr20:43,316,530...43,324,671
JBrowse link
G GLA galactosidase alpha ISO RGD PMID:29563343 RGD:150429980 NCBI chr  X:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280
JBrowse link
G SLC17A5 solute carrier family 17 member 5 ISO MouseDO NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
JBrowse link
Abderhalden-Kaufmann-Lignac Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNS cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 More... NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
JBrowse link
G SHPK sedoheptulokinase ISO ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr17:3,657,764...3,686,791
Ensembl chr17:3,654,237...3,683,421
JBrowse link
G TAX1BP3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar NCBI chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342
JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 ISO ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
JBrowse link
Alcoholic Fatty Liver 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:16115302 RGD:5686674 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:18755807 PMID:22013387 PMID:26115886 PMID:27220557 RGD:25330099 RGD:25440493 RGD:25824939 RGD:25824943 NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251
JBrowse link
G ADRA2A adrenoceptor alpha 2A ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr10:107,669,860...107,673,685 JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member treatment
susceptibility
severity
ISO protein:altered processing:liver (mouse)
DNA:missense mutation:cds:p.E504K (human)
human transgene in mouse model
RGD PMID:17058263 PMID:25457208 PMID:29063269 PMID:29156373 RGD:14696776 RGD:15036805 RGD:15036811 RGD:1599041 NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
JBrowse link
G ARRB2 arrestin beta 2 ameliorates ISO protein:increased expression:hepatocyte RGD PMID:33871024 RGD:401938594 NCBI chr17:4,766,616...4,777,253
Ensembl chr17:4,757,048...4,767,517
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO protein:increased expression:liver (human) RGD PMID:29307797 RGD:153297819 NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
JBrowse link
G C1QC complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:35789393 NCBI chr 1:21,828,969...21,833,518
Ensembl chr 1:22,770,582...22,782,176
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCR2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CCR5 C-C motif chemokine receptor 5 disease_progression ISO RGD PMID:27859576 RGD:14401742 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:24280415 RGD:11041117 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CTSB cathepsin B ISO protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr 8:7,333,498...7,359,264 JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:24064383 PMID:25583360 PMID:26428356 RGD:14700870 RGD:14700884 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G DNMT1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G FKBP5 FKBP prolyl isomerase 5 ameliorates ISO mRNA,protein:incrased expression:liver (human) RGD PMID:33710653 RGD:401976495 NCBI chr 6:35,135,745...35,250,860
Ensembl chr 6:36,337,883...36,452,664
JBrowse link
G FOXO1 forkhead box O1 ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr13:21,763,729...21,874,279 JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
JBrowse link
G LDLR low density lipoprotein receptor ISO protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
JBrowse link
G LOC100976904 growth-regulated alpha protein ameliorates ISO RGD PMID:33710653 RGD:401976495 NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474
JBrowse link
G NLRC5 NLR family CARD domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36708882 NCBI chr16:37,267,541...37,361,369
Ensembl chr16:56,433,204...56,494,027
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 treatment ISO RGD PMID:26256083 RGD:11522097 NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672
JBrowse link
G PEMT phosphatidylethanolamine N-methyltransferase ISO RGD PMID:17156888 RGD:1642369 NCBI chr17:33,703,800...33,790,470
Ensembl chr17:38,651,024...38,737,202
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G SERPINE1 serpin family E member 1 ISO mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SERPINF1 serpin family F member 1 ISO protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:11477087 RGD:1625694 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:18296740 RGD:7207884 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G TEAD1 TEA domain transcription factor 1 ameliorates ISO RGD PMID:33710653 RGD:401976495 NCBI chr11:12,841,564...13,111,506
Ensembl chr11:12,624,281...12,796,541
JBrowse link
G TLR4 toll like receptor 4 severity ISO RGD PMID:21463341 PMID:29884546 RGD:14697697 RGD:14700554 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor susceptibility
treatment
ISO DNA:SNP:promoter:-238G>A (human) RGD PMID:9214463 PMID:20143470 RGD:14995434 RGD:38508901 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G UBD ubiquitin D ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr 6:29,359,680...29,364,014
Ensembl chr 6:30,018,444...30,022,814
JBrowse link
alpha-mannosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,120,451...11,125,167
Ensembl chr19:11,832,575...11,835,203
JBrowse link
G ANGPTL8 angiopoietin like 8 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,787,457...10,790,090
Ensembl chr19:11,498,069...11,500,400
JBrowse link
G BEST2 bestrophin 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,314,252...12,321,051
Ensembl chr19:13,060,133...13,066,033
JBrowse link
G C20H19orf38 chromosome 20 C19orf38 homolog ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,390,158...10,423,117
Ensembl chr19:11,123,539...11,142,641
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CALR calreticulin ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948
JBrowse link
G CCDC159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,893,751...10,902,271
Ensembl chr19:11,604,405...11,612,516
JBrowse link
G CNN1 calponin 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,084,862...11,096,374
Ensembl chr19:11,796,523...11,807,680
JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,529,830...12,536,052 JBrowse link
G DHPS deoxyhypusine synthase ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,237,882...12,243,903
Ensembl chr19:12,983,106...12,989,193
JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,436,898...12,443,530
Ensembl chr19:13,180,073...13,185,650
JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
JBrowse link
G ECSIT ECSIT signaling integrator ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,052,057...11,075,308
Ensembl chr19:11,763,701...11,786,743
JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,997,557...11,027,182
Ensembl chr19:11,711,767...11,737,764
JBrowse link
G ELOF1 elongation factor 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,099,049...11,105,333 JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383
JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,484,607...12,496,160
Ensembl chr19:13,227,193...13,238,244
JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,250,790...12,259,199
Ensembl chr19:12,996,061...13,003,564
JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,516,581...12,519,673
Ensembl chr19:13,259,047...13,262,044
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223
JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,299,706...12,310,923
Ensembl chr19:13,045,570...13,055,908
JBrowse link
G HOOK2 hook microtubule tethering protein 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,325,578...12,340,754
Ensembl chr19:13,070,289...13,082,612
JBrowse link
G IER2 immediate early response 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,714,804...12,718,213
Ensembl chr19:13,452,239...13,452,910
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,713,582...10,746,371
Ensembl chr19:11,426,149...11,457,359
JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425
JBrowse link
G LDLR low density lipoprotein receptor ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
JBrowse link
G LOC100986306 zinc finger protein 563 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,876,162...11,892,400
Ensembl chr19:12,638,203...12,653,371
JBrowse link
G LOC100986980 zinc finger protein 763 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,525,905...11,529,331
Ensembl chr19:12,283,031...12,296,554
JBrowse link
G LOC100988443 zinc finger protein 823 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,268,763...11,286,973
Ensembl chr19:11,978,214...11,995,986
JBrowse link
G LOC100988783 zinc finger protein 441 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,314,513...11,332,116
Ensembl chr19:12,024,203...12,041,081
JBrowse link
G LOC103785277 zinc finger protein 433 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,563,747...11,585,319
Ensembl chr19:12,332,398...12,353,203
JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,660,548...12,664,513
Ensembl chr19:13,407,596...13,409,309
JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase | ClinVar Annotator: match by term: Mannosidosis, alpha B lysosomal OMIM
ClinVar
PMID:724292 PMID:1472354 PMID:4358183 PMID:9158146 PMID:9370301 More... NCBI chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056
JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,395,531...12,436,646
Ensembl chr19:13,138,382...13,179,569
JBrowse link
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,679,837...12,704,470
Ensembl chr19:13,412,462...13,439,679
JBrowse link
G NFIX nuclear factor I X ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,557,020...12,660,316
Ensembl chr19:13,327,690...13,402,406
JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,967,913...10,982,032
Ensembl chr19:11,678,306...11,693,332
JBrowse link
G PRDX2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369
JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,981,398...10,997,062
Ensembl chr19:11,693,620...11,707,728
JBrowse link
G RAB3D RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,869,402...10,887,005
Ensembl chr19:11,579,669...11,597,158
JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,508,232...12,516,068
Ensembl chr19:13,250,718...13,258,482
JBrowse link
G RGL3 ral guanine nucleotide dissociation stimulator like 3 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,932,016...10,966,701
Ensembl chr19:11,652,700...11,685,293
JBrowse link
G RNASEH2A ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,363,721...12,375,316
Ensembl chr19:13,112,242...13,119,514
JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,387,165...12,397,157
Ensembl chr19:13,129,659...13,139,842
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
JBrowse link
G SPC24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,695,488...10,705,849 JBrowse link
G STX10 syntaxin 10 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,707,389...12,713,681
Ensembl chr19:13,445,784...13,449,422
JBrowse link
G SWSAP1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,920,774...10,923,769
Ensembl chr19:11,632,682...11,634,202
JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,459,646...12,481,833
Ensembl chr19:13,203,595...13,224,052
JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,482,351...10,483,890 JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,386,041...10,389,905
Ensembl chr19:11,107,511...11,111,744
JBrowse link
G TMEM205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,890,020...10,893,608
Ensembl chr19:11,601,256...11,604,203
JBrowse link
G TNPO2 transportin 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,261,026...12,286,571
Ensembl chr19:13,006,110...13,032,317
JBrowse link
G TRIR telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,293,236...12,297,338
Ensembl chr19:13,038,837...13,046,866
JBrowse link
G TRMT1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,666,426...12,679,454 JBrowse link
G TSPAN16 tetraspanin 16 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,844,955...10,864,526
Ensembl chr19:11,555,377...11,584,606
JBrowse link
G WDR83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:9915946 PMID:22161967 PMID:28492532 PMID:32331969 NCBI chr19:12,231,876...12,237,997
Ensembl chr19:12,976,952...12,983,221
JBrowse link
G WDR83OS WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:9915946 PMID:22161967 PMID:28492532 PMID:32331969 NCBI chr19:12,230,204...12,231,881
Ensembl chr19:12,975,314...12,976,896
JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,475,806...10,482,352
Ensembl chr19:11,195,562...11,203,248
JBrowse link
G ZNF136 zinc finger protein 136 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,752,504...11,796,167
Ensembl chr19:12,490,274...12,516,458
Ensembl chr19:12,490,274...12,516,458
JBrowse link
G ZNF20 zinc finger protein 20 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,687,783...11,702,790
Ensembl chr19:12,456,470...12,467,459
JBrowse link
G ZNF443 zinc finger protein 443 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,991,563...12,021,852 JBrowse link
G ZNF490 zinc finger protein 490 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,138,375...12,173,313
Ensembl chr19:12,889,625...12,919,759
JBrowse link
G ZNF491 zinc finger protein 491 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,346,661...11,356,232 JBrowse link
G ZNF564 zinc finger protein 564 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:25741868 PMID:28492532 NCBI chr19:12,088,249...12,141,600
Ensembl chr19:12,836,581...12,861,815
JBrowse link
G ZNF625 zinc finger protein 625 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,695,318...11,715,239
Ensembl chr19:12,466,592...12,483,466
JBrowse link
G ZNF627 zinc finger protein 627 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,121,041...11,165,305
Ensembl chr19:11,853,313...11,875,349
JBrowse link
G ZNF653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,029,561...11,051,967
Ensembl chr19:11,740,585...11,763,707
JBrowse link
G ZNF709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,026,842...12,076,648 JBrowse link
G ZNF791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,173,427...12,195,067 JBrowse link
G ZNF878 zinc finger protein 878 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,592,589...11,602,765
Ensembl chr19:12,361,219...12,369,278
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKIB1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
JBrowse link
aspartylglucosaminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGA aspartylglucosaminidase ISO ClinVar Annotator: match by term: Aspartylglucosaminuria | ClinVar Annotator: match by term: Aspartylglucosaminuria, finnish type OMIM
ClinVar
PMID:1427775 PMID:1559710 PMID:1703489 PMID:1722323 PMID:1756604 More... NCBI chr 4:169,624,480...169,635,810
Ensembl chr 4:181,855,136...181,870,473
JBrowse link
atypical Gaucher's disease due to saposin C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency OMIM
ClinVar
PMID:1371116 PMID:2615292 PMID:6256275 PMID:8460394 PMID:8554069 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
JBrowse link
Atypical Krabbe Disease due to Saposin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency ClinVar
OMIM
PMID:9536098 PMID:15773042 PMID:17576681 PMID:25741868 PMID:26822237 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
JBrowse link
beta-mannosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:28492532 PMID:30311386 NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477
JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 More... NCBI chr 4:94,216,751...94,507,965
Ensembl chr 4:104,813,791...105,171,527
JBrowse link
G BDH2 3-hydroxybutyrate dehydrogenase 2 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 More... NCBI chr 4:95,533,173...95,556,000
Ensembl chr 4:106,157,229...106,179,402
JBrowse link
G CENPE centromere protein E ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 More... NCBI chr 4:95,562,005...95,654,397
Ensembl chr 4:106,185,283...106,277,229
JBrowse link
G CISD2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 More... NCBI chr 4:95,251,920...95,313,404
Ensembl chr 4:105,954,880...105,975,142
JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:28492532 PMID:30311386 NCBI chr 5:136,876,396...136,980,097 JBrowse link
G LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
JBrowse link
G MANBA mannosidase beta ISO ClinVar Annotator: match by term: Beta-D-mannosidosis | ClinVar Annotator: match by term: Beta-mannosidase deficiency OMIM
ClinVar
PMID:1499588 PMID:1623631 PMID:2079835 PMID:3762648 PMID:9384606 More... NCBI chr 4:95,055,206...95,184,727
Ensembl chr 4:105,718,124...105,846,251
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 More... NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 More... NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394
JBrowse link
G SLC39A8 solute carrier family 39 member 8 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 More... NCBI chr 4:94,675,458...94,770,380
Ensembl chr 4:105,339,488...105,433,568
JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 More... NCBI chr 4:95,324,597...95,475,599
Ensembl chr 4:105,971,131...106,071,773
JBrowse link
G SLC9B2 solute carrier family 9 member B2 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 More... NCBI chr 4:95,474,854...95,532,311
Ensembl chr 4:106,100,229...106,155,749
JBrowse link
G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 More... NCBI chr 4:96,022,788...96,162,249
Ensembl chr 4:106,644,943...106,776,172
JBrowse link
G UBE2D3 ubiquitin conjugating enzyme E2 D3 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 More... NCBI chr 4:95,218,319...95,293,053
Ensembl chr 4:105,883,133...105,900,546
JBrowse link
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa | ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM ClinVar PMID:2111708 PMID:2203258 PMID:2510307 PMID:7668832 PMID:7717400 More... NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
JBrowse link
cerebrotendinous xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAMP angio associated migratory cell protein ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,523,495...105,529,550
Ensembl chr2B:224,121,531...224,127,369
JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,487,377...106,494,258
Ensembl chr2B:225,078,322...225,085,205
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,478,035...105,513,665
Ensembl chr2B:224,076,356...224,111,643
JBrowse link
G ASIC4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,770,714...106,796,044
Ensembl chr2B:225,361,477...225,386,081
JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,477,007...106,487,249
Ensembl chr2B:225,067,590...225,078,065
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,615,244...105,627,114
Ensembl chr2B:224,213,335...224,223,583
JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,217,926...106,220,444 JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,260,872...106,299,594
Ensembl chr2B:224,854,262...224,892,490
JBrowse link
G CHPF chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,796,215...106,801,081
Ensembl chr2B:225,386,262...225,390,886
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,826,633...105,854,415
Ensembl chr2B:224,422,467...224,450,133
JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,429,610...106,435,887
Ensembl chr2B:225,022,210...225,028,410
JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,248,236...106,252,081
Ensembl chr2B:224,841,620...224,844,836
JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,658,394...105,664,571
Ensembl chr2B:224,254,460...224,262,000
JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis | ClinVar Annotator: match by term: Cholestanol storage disease OMIM
ClinVar
PMID:2019602 PMID:7697869 PMID:7860076 PMID:7915755 PMID:8006521 More... NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474
JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,536,846...106,544,430
Ensembl chr2B:225,127,967...225,135,556
JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,631,392...106,645,100
Ensembl chr2B:225,221,703...225,247,699
JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,238,933...106,243,499 JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,494,214...106,503,001
Ensembl chr2B:225,085,163...225,093,610
JBrowse link
G GMPPA GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,756,115...106,764,280
Ensembl chr2B:225,346,029...225,354,116
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119
JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506
JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,805,441...106,828,937
Ensembl chr2B:225,398,863...225,418,567
JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,864,706...105,895,114
Ensembl chr2B:224,461,261...224,490,345
JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,529,775...105,606,207
Ensembl chr2B:224,127,504...224,204,046
JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chr2B:106,085,299...106,139,298
Ensembl chr2B:224,679,831...224,687,705
JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:25741868 PMID:28492532 PMID:28590052 Ensembl chr16:30,183,352...30,187,862 JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,547,156...106,567,056
Ensembl chr2B:225,138,887...225,206,700
JBrowse link
G RESP18 regulated endocrine specific protein 18 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,584,632...106,590,704
Ensembl chr2B:225,175,221...225,180,916
JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,435,938...106,441,428
Ensembl chr2B:225,028,498...225,034,024
JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,921,875...105,930,034
Ensembl chr2B:224,517,286...224,525,253
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941
JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,418,754...106,427,931
Ensembl chr2B:225,011,825...225,020,503
JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,692,222...106,750,922
Ensembl chr2B:225,282,676...225,339,910
JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,502,953...106,506,470
Ensembl chr2B:225,093,645...225,098,504
JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,930,030...105,960,718
Ensembl chr2B:224,525,226...224,555,583
JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,533,578...105,551,969
Ensembl chr2B:224,131,478...224,143,170
JBrowse link
G TMEM198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,801,303...106,807,872
Ensembl chr2B:225,391,343...225,397,937
JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,968,840...106,016,034
Ensembl chr2B:224,563,691...224,610,431
JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,708,070...105,826,435
Ensembl chr2B:224,304,520...224,422,228
JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,677,371...105,711,293
Ensembl chr2B:224,274,548...224,304,550
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chr2B:106,119,740...106,134,317
Ensembl chr2B:224,714,229...224,728,171
JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:106,464,364...106,467,217
Ensembl chr2B:225,055,969...225,058,647
JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr2B:105,894,127...105,917,608
Ensembl chr2B:224,492,064...224,509,839
JBrowse link
Chanarin-Dorfman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis OMIM
ClinVar
PMID:6181472 PMID:11590543 PMID:14708602 PMID:15136565 PMID:20022472 More... NCBI chr 3:43,580,752...43,612,637
Ensembl chr 3:44,640,215...44,669,885
JBrowse link
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543 PMID:25741868 PMID:28492532 NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535
JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 Ensembl chr11:652,671...659,959 JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:804,517...807,608
Ensembl chr11:849,678...850,127
JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:652,337...709,854 JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:640,401...646,775 JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:720,528...741,623
Ensembl chr11:765,689...787,128
JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:784,569...794,911
Ensembl chr11:833,230...839,421
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 Ensembl chr11:647,827...651,314 JBrowse link
G LMNTD2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:559,779...564,584
Ensembl chr11:588,816...594,794
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G PHRF1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:579,487...608,251
Ensembl chr11:616,738...647,496
JBrowse link
G PIDD1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:816,629...827,295
Ensembl chr11:860,899...867,436
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 More... NCBI chr11:838,339...844,035
Ensembl chr11:881,934...886,896
JBrowse link
G RASSF7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:561,525...569,852
Ensembl chr11:596,433...598,823
JBrowse link
G RPLP2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:827,500...830,490
Ensembl chr11:870,709...874,253
JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:632,073...634,296 JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:807,886...815,770
Ensembl chr11:851,998...858,121
JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:764,864...782,548
Ensembl chr11:809,751...826,744
JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr11:709,907...719,140
Ensembl chr11:754,169...763,695
JBrowse link
cholesterol ester storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Cholesteryl ester storage disease ClinVar
OMIM
PMID:7499245 PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 More... NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G TSPO translocator protein ISO RGD PMID:29074640 RGD:150429771 NCBI chr22:24,034,918...24,046,370
Ensembl chr22:42,233,619...42,244,930
JBrowse link
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCC1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chr10:68,646,113...68,740,097
Ensembl chr10:71,082,355...71,207,096
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chr10:68,427,305...68,476,512
Ensembl chr10:70,951,190...70,994,936
JBrowse link
G LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
OMIM
PMID:1350885 PMID:1371116 PMID:2019586 PMID:2302219 PMID:2320574 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
JBrowse link
G SPOCK2 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chr10:68,522,002...68,552,001
Ensembl chr10:71,048,773...71,074,203
JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency ClinVar PMID:28492532 NCBI chr10:68,218,230...68,243,687
Ensembl chr10:70,742,062...70,767,613
JBrowse link
Congenital Visceral Steatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADK adenosine kinase ISO RGD PMID:11997462 RGD:1300259 NCBI chr10:70,672,967...71,236,950
Ensembl chr10:73,342,900...73,902,490
JBrowse link
cystinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNS cystinosin, lysosomal cystine transporter susceptibility
treatment
ISO ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: Cystinosis, atypical nephropathic | ClinVar Annotator: match by term: Lysosomal cystine transport protein, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis
DNA:mutations:multiple (human)
human gene in a mouse model
OMIM
ClinVar
RGD
PMID:9536098 PMID:9537412 PMID:9792862 PMID:10068513 PMID:10444339 More... RGD:12910866 RGD:1601022 NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
JBrowse link
G SHPK sedoheptulokinase ISO ClinVar Annotator: match by term: Cystinosin, defect of ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr17:3,657,764...3,686,791
Ensembl chr17:3,654,237...3,683,421
JBrowse link
G TAX1BP3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis ClinVar PMID:24385851 NCBI chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342
JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 ISO ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
JBrowse link
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPA aspartoacylase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr17:3,492,304...3,517,882
Ensembl chr17:3,522,858...3,546,279
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE OMIM
ClinVar
PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More... NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
JBrowse link
G SHPK sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr17:3,657,764...3,686,791
Ensembl chr17:3,654,237...3,683,421
JBrowse link
G TAX1BP3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342
JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
JBrowse link
Cystinosis, Ocular Nonnephropathic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPA aspartoacylase ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr17:3,492,304...3,517,882
Ensembl chr17:3,522,858...3,546,279
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, ocular nonnephropathic OMIM
ClinVar
PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More... NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
JBrowse link
G SHPK sedoheptulokinase ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr17:3,657,764...3,686,791
Ensembl chr17:3,654,237...3,683,421
JBrowse link
G TAX1BP3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr17:3,713,211...3,718,959
Ensembl chr17:3,709,600...3,715,342
JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr17:3,612,781...3,658,608
Ensembl chr17:3,609,952...3,637,579
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
JBrowse link
Danon disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:108,940,756...108,984,227
Ensembl chr  X:119,355,712...119,380,449
JBrowse link
G ATP1B4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:109,633,770...109,654,662
Ensembl chr  X:119,820,695...119,841,598
JBrowse link
G LAMP2 lysosomal associated membrane protein 2 ISO ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy OMIM
ClinVar
PMID:3087571 PMID:6408499 PMID:6450334 PMID:8504498 PMID:9536098 More... NCBI chr  X:109,700,185...109,743,579
Ensembl chr  X:119,886,982...119,929,896
JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:108,935,315...108,940,237
Ensembl chr  X:119,330,105...119,334,963
JBrowse link
G NKAP NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:108,988,561...109,006,946
Ensembl chr  X:119,384,655...119,402,775
JBrowse link
G RHOXF1 Rhox homeobox family member 1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:109,253,343...109,261,513 JBrowse link
G RHOXF2 Rhox homeobox family member 2 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:109,284,526...109,303,442 JBrowse link
G RNF113A ring finger protein 113A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:108,934,081...108,935,376
Ensembl chr  X:119,328,911...119,329,942
JBrowse link
G TMEM255A transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:109,530,719...109,583,320
Ensembl chr  X:119,718,047...119,770,580
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:108,897,140...108,916,620
Ensembl chr  X:119,292,231...119,311,632
JBrowse link
G ZBTB33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:109,521,333...109,530,467
Ensembl chr  X:119,712,818...119,714,836
JBrowse link
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G AGT angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AR androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357
JBrowse link
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187
JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:90,422,483...90,467,610
Ensembl chr  X:100,558,208...100,603,233
JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease OMIM
ClinVar
PMID:105759 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 More... NCBI chr  X:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280
JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:7531540 PMID:11889412 PMID:15776423 PMID:17532296 PMID:17555407 More... NCBI chr  X:90,610,742...90,616,726 JBrowse link
G IL1A interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G MYLK2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chr20:28,113,024...28,128,142
Ensembl chr20:29,243,391...29,258,508
JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:90,593,495...90,598,380
Ensembl chr  X:100,725,528...100,730,505
JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:90,471,354...90,496,618
Ensembl chr  X:100,607,488...100,631,301
JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:90,548,212...90,551,534
Ensembl chr  X:100,680,224...100,683,544
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chr  X:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280
JBrowse link
Farber lipogranulomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency OMIM
ClinVar
PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 More... NCBI chr 8:17,272,632...17,300,902 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
Free Sialic Acid Storage Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC17A5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) ClinVar PMID:2010546 PMID:2334213 PMID:10069709 PMID:10546100 PMID:10581036 More... NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
JBrowse link
French Type Sialuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Sialuria, French type ClinVar PMID:9536098 PMID:11528398 PMID:12497639 PMID:12743242 PMID:14972325 More... NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588
JBrowse link
fucosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Fucosidosis ClinVar PMID:25741868 NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582
JBrowse link
G FUCA1 alpha-L-fucosidase 1 ISO ClinVar Annotator: match by term: FUCA1-related condition | ClinVar Annotator: match by term: Fucosidosis OMIM
ClinVar
PMID:1214294 PMID:1281988 PMID:2012122 PMID:2642067 PMID:7581404 More... NCBI chr 1:23,039,126...23,060,514
Ensembl chr 1:24,022,967...24,043,850
JBrowse link
galactosialidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase | ClinVar Annotator: match by term: Galactosialidosis, adult | ClinVar Annotator: match by term: Galactosialidosis, early infantile | ClinVar Annotator: match by term: Galactosialidosis, late infantile OMIM
ClinVar
PMID:1756715 PMID:2148053 PMID:3149149 PMID:8514852 PMID:8968752 More... NCBI chr20:42,229,064...42,237,627
Ensembl chr20:43,316,530...43,324,671
JBrowse link
G NEURL2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase ClinVar NCBI chr20:42,227,450...42,230,096
Ensembl chr20:43,314,207...43,316,944
JBrowse link
G PLTP phospholipid transfer protein ISO ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase ClinVar NCBI chr20:42,237,434...42,251,189
Ensembl chr20:43,324,609...43,337,999
JBrowse link
G SPATA25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase ClinVar NCBI chr20:42,224,930...42,227,521
Ensembl chr20:43,312,075...43,313,639
JBrowse link
Gaucher's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G CHIT1 chitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17464953 NCBI chr 1:178,816,396...178,875,895 JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:28492532 NCBI chr 9:80,020,131...80,085,076
Ensembl chr 9:108,194,011...108,258,500
JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
JBrowse link
G IL4 interleukin 4 ISO protein:increased expression:lung RGD PMID:21223590 RGD:5128511 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Acid beta-glucosidase deficiency ClinVar PMID:22493294 NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
JBrowse link
G PKLR pyruvate kinase L/R ISO DNA:repeats:intron:IVS11+?(ATT)5 (human) RGD PMID:9677056 RGD:11535995 NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:25741868 PMID:28492532 NCBI chr11:6,521,812...6,526,349 JBrowse link
G SNCA synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576930 NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
JBrowse link
G TNF tumor necrosis factor severity ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:15919211 RGD:12904037 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: GBA DEFICIENCY ClinVar PMID:25741868 NCBI chr2B:65,783,512...66,064,618 JBrowse link
Gaucher's disease perinatal lethal 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: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal ClinVar
OMIM
PMID:1348297 PMID:1864608 PMID:1897529 PMID:1899336 PMID:1971142 More... NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
JBrowse link
Gaucher's disease type I 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: Gaucher disease type I ClinVar
OMIM
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile ClinVar PMID:22493294 NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: GD I ClinVar PMID:25741868 NCBI chr2B:65,783,512...66,064,618 JBrowse link
Gaucher's disease type II 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: Acute cerebral Gaucher disease | ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type ClinVar
OMIM
PMID:1301953 PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 More... NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
JBrowse link
Gaucher's disease type III 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: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type ClinVar
OMIM
PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 More... NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
JBrowse link
Gaucher's disease type IIIC 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: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome ClinVar
OMIM
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851
JBrowse link
glycogen storage disease II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Glycogen storage disease type 2 | ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II OMIM
ClinVar
PMID:1109266 PMID:1652892 PMID:1856189 PMID:1862843 PMID:1895140 More... NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
JBrowse link
G LOC100988043 eukaryotic initiation factor 4A-III ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:28492532 NCBI chr17:74,221,793...74,233,738 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:15016963 PMID:21266528 PMID:23334666 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G TNNT2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:26787432 NCBI chr 1:176,957,298...176,976,033 JBrowse link
glycoproteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHPT1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:25741868 More... NCBI chr12:99,278,842...99,311,790
Ensembl chr12:102,692,554...102,711,745
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis
ClinVar PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More... NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC/variant pseudo-hurler polydystrophy RGD PMID:10712439 RGD:1599045 Ensembl chr16:1,407,385...1,418,523 JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093
JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis
ClinVar PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chr 6:31,522,392...31,526,097
Ensembl chr 6:32,409,217...32,412,971
JBrowse link
GM1 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 treatment ISO ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis RGD
ClinVar
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... RGD:11086251 NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis ClinVar PMID:16941474 PMID:25741868 PMID:28492532 NCBI chr 3:33,024,623...33,031,877 JBrowse link
GM1 gangliosidosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
OMIM
ClinVar
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More... NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Infantile GM1 gangliosidosis ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chr 3:33,024,623...33,031,877 JBrowse link
GM1 gangliosidosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 2 OMIM
ClinVar
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More... NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 2 ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chr 3:33,024,623...33,031,877 JBrowse link
GM1 gangliosidosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis OMIM
ClinVar
PMID:1353343 PMID:1907800 PMID:1909089 PMID:6791574 PMID:8068159 More... NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3 ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 More... NCBI chr 3:33,024,623...33,031,877 JBrowse link
GM2 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GM2A ganglioside GM2 activator ISO Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chr 5:146,680,277...146,696,505
Ensembl chr 5:152,680,696...152,697,018
JBrowse link
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 More... NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688
Ensembl chr15:70,057,943...70,090,688
JBrowse link
G SNCA synuclein alpha ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
JBrowse link
G SNCB synuclein beta ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 5:171,918,297...171,928,672
Ensembl chr 5:178,988,439...178,998,800
JBrowse link
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GM2A ganglioside GM2 activator ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB OMIM
ClinVar
PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 More... NCBI chr 5:146,680,277...146,696,505
Ensembl chr 5:152,680,696...152,697,018
JBrowse link
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:1301938 PMID:1307230 PMID:1830584 PMID:1833974 PMID:2294750 More... NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688
Ensembl chr15:70,057,943...70,090,688
JBrowse link
G SLC36A2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:28492532 Ensembl chr 5:152,744,831...152,775,431 JBrowse link
G SLC36A3 solute carrier family 36 member 3 ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:28492532 NCBI chr 5:146,703,628...146,774,744
Ensembl chr 5:152,704,142...152,731,899
JBrowse link
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, adult | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset ClinVar PMID:1483696 PMID:1532289 PMID:2145759 PMID:2278539 PMID:2522660 More... NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688
Ensembl chr15:70,057,943...70,090,688
JBrowse link
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 ClinVar PMID:1532289 NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688
Ensembl chr15:70,057,943...70,090,688
JBrowse link
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 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: Hyperlipemia with familial hypercholesterolemic xanthomatosis ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Hypopigmentation, organomegaly, and delayed myelination and development OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31155284 NCBI chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951
JBrowse link
Infantile Nephropathic Cystinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNS cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Infantile nephropathic cystinosis ClinVar PMID:9537412 PMID:9792862 PMID:10556299 PMID:11562417 PMID:12204010 More... NCBI chr17:3,686,903...3,711,857
Ensembl chr17:3,683,575...3,708,253
JBrowse link
Infantile Sialic Storage Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC17A5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Infantile sialic acid storage disorder (ISSD) | ClinVar Annotator: match by term: N-Acetylneuraminic acid storage disease | ClinVar Annotator: match by term: NANA STORAGE DISEASE OMIM
ClinVar
PMID:2010546 PMID:2334213 PMID:7151835 PMID:7573152 PMID:10069709 More... NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
JBrowse link
Kanzaki disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 | ClinVar Annotator: match by term: Schindler disease type 2 OMIM
ClinVar
PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2564952 More... NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
JBrowse link
G WBP2NL WBP2 N-terminal like ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 ClinVar NCBI chr22:22,891,166...22,926,920
Ensembl chr22:40,974,715...41,004,007
JBrowse link
Krabbe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALC galactosylceramidase ISO ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
OMIM
ClinVar
PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 More... NCBI chr14:68,545,070...68,605,730
Ensembl chr14:87,905,098...87,965,770
JBrowse link
G LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
JBrowse link
G SPATA7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:25741868 NCBI chr14:69,002,723...69,056,185
Ensembl chr14:88,367,757...88,415,045
JBrowse link
lipid storage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S1 adaptor related protein complex 1 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 7:93,294,826...93,301,202
Ensembl chr 7:106,536,452...106,543,316
JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr 8:17,272,632...17,300,902 JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046
JBrowse link
G DEPP1 DEPP autophagy regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr10:41,970,914...41,973,518
Ensembl chr10:45,151,636...45,152,280
JBrowse link
G FABP1 fatty acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr2A:87,256,032...87,303,505
Ensembl chr2A:89,165,315...89,170,448
JBrowse link
G FADS2 fatty acid desaturase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr11:57,192,881...57,232,574
Ensembl chr11:60,476,082...60,591,649
JBrowse link
G FNDC4 fibronectin type III domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr2A:27,494,396...27,497,747
Ensembl chr2A:27,583,044...27,585,288
JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 Ensembl chr16:30,479,684...30,488,868 JBrowse link
G HPN hepsin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr19:31,985,761...32,012,841
Ensembl chr19:40,725,319...40,750,628
JBrowse link
G INHBE inhibin subunit beta E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr12:31,467,974...31,470,700
Ensembl chr12:31,724,252...31,726,978
JBrowse link
G LSS lanosterol synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr21:32,535,564...32,571,379
Ensembl chr21:45,787,252...45,822,181
JBrowse link
G NR0B2 nuclear receptor subfamily 0 group B member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr 1:26,174,055...26,176,689
Ensembl chr 1:27,230,362...27,232,942
JBrowse link
G NUPR1 nuclear protein 1, transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 Ensembl chr16:29,015,155...29,016,987 JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
JBrowse link
G SCD stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776
JBrowse link
G SERPINA3 serpin family A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr14:75,220,252...75,247,996
Ensembl chr14:94,551,934...94,579,515
JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 NCBI chr12:8,045,058...8,062,116
Ensembl chr12:8,408,457...8,423,466
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO RGD PMID:17524234 RGD:2308821 NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:17524234 RGD:2308821 NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
JBrowse link
G TAGLN transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129
JBrowse link
G WIPI1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952 PMID:16919414 PMID:17175557 NCBI chr17:62,357,952...62,394,620
Ensembl chr17:67,748,201...67,784,389
JBrowse link
lysosomal acid lipase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency ClinVar PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 PMID:7759067 More... NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
metabolic dysfunction-associated steatohepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 treatment ISO RGD PMID:29505790 RGD:19165131 NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
JBrowse link
G ACACA acetyl-CoA carboxylase alpha treatment ISO RGD PMID:28458350 RGD:401799674 NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
JBrowse link
G ACER3 alkaline ceramidase 3 disease_progression
treatment
ISO mRNA:increased expression:liver RGD PMID:31949129 RGD:35673324 NCBI chr11:71,911,204...72,077,528
Ensembl chr11:75,557,846...75,717,586
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO mRNA:increased expression:liver (mouse) RGD PMID:28100771 RGD:127285675 NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
JBrowse link
G ADIPOR2 adiponectin receptor 2 susceptibility
treatment
ISO mRNA:decreased expression:liver (rat)
associated with obesity
associated with obesity;protein:decreased expression:liver (mouse)
RGD PMID:18666257 PMID:19763702 PMID:20606728 PMID:20965162 PMID:30131158 RGD:21076282 RGD:25330094 RGD:25330095 RGD:25440494 RGD:25824942 NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251
JBrowse link
G ADRA2A adrenoceptor alpha 2A ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr10:107,669,860...107,673,685 JBrowse link
G APOA1 apolipoprotein A1 treatment ISO human gene in mouse model
mRNA, protein: increased expression:liver, serum (rat)
RGD PMID:24793484 PMID:30187493 RGD:21408551 RGD:25671434 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO protein:increased expression:liver (human) RGD PMID:29307797 RGD:153297819 NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility ISO mRNA:increased expression:liver
RNA:increased expression:liver:
mRNA:increased expression:liver (rat)
RGD PMID:20606728 PMID:24429361 PMID:30369082 RGD:14975280 RGD:14995462 RGD:21076282 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:serum: RGD PMID:27639593 RGD:14995335 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CLDN1 claudin 1 ISO mRNA:increased expression:distal colon (rat) RGD PMID:31189495 RGD:26884351 NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248
JBrowse link
G COL1A1 collagen type I alpha 1 chain ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A treatment ISO RGD PMID:28458350 RGD:401799674 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 severity ISO mRNA,protein:increased expression:liver,serum RGD PMID:25048951 RGD:27095890 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO mRNA:increased expression:liver (human) RGD PMID:28774887 RGD:15045601 NCBI chr2B:106,042,235...106,076,840
Ensembl chr2B:224,637,238...224,671,474
JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 treatment ISO mRNA:increased expression:liver (human)
mRNA, protein:altered expression:liver (rat) treatment with INT-767
RGD PMID:28774887 PMID:30038487 RGD:15045601 RGD:15092090 NCBI chr 8:54,942,509...54,952,500
Ensembl chr 8:56,593,799...56,604,037
JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 treatment ISO mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:30038487 RGD:15092090 NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119
JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO associated with morbid obesity;mRNA:decreased expression:liver RGD PMID:33081272 RGD:401900305 NCBI chr2B:118,362,719...118,381,253
Ensembl chr2B:237,153,709...237,170,591
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ameliorates ISO RGD PMID:28415887 RGD:14985253 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
JBrowse link
G IFNG interferon gamma ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-1082A>G (rs1800896) (human) RGD PMID:28852433 RGD:14975143 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL1B interleukin 1 beta ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL6 interleukin 6 ameliorates ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:28100771 PMID:28852433 RGD:127285675 RGD:14975143 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IRF5 interferon regulatory factor 5 ISO mRNA:increased expression:liver RGD PMID:27942586 RGD:40924562 NCBI chr 7:120,889,752...120,902,096
Ensembl chr 7:133,415,170...133,426,356
JBrowse link
G JAK2 Janus kinase 2 ameliorates ISO RGD PMID:28100771 RGD:127285675 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
JBrowse link
G KRT18 keratin 18 severity ISO protein:increased degradation:serum (human)
protein:increased expression:serum (human)
protein:increased degradation:plasma (human)
protein:altered degradation:liver, serum (rat)
associated with morbid obesity;protein:increased degradation:plasma (human)
RGD
MouseDO
PMID:18995215 PMID:19333204 PMID:19585618 PMID:21993925 PMID:24071521 More... RGD:18337489 RGD:18337490 RGD:18337493 RGD:18337495 RGD:18337499 RGD:27226810 NCBI chr12:35,807,660...35,811,691
Ensembl chr12:36,587,149...36,591,196
JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:SNPs: : (rs1137100, rs1137101) (human) RGD PMID:23278404 RGD:14696696 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G LOC100971374 thioredoxin-interacting protein ISO RGD PMID:29482933 RGD:15090806 NCBI chr 1:90,007,878...90,012,055 JBrowse link
G LOC100980965 zinc-alpha-2-glycoprotein treatment ISO associated with type 2 diabetes mellitus; RGD PMID:29608898 RGD:153352320 NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219
JBrowse link
G MC4R melanocortin 4 receptor ISO MouseDO NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO RGD PMID:32015322 RGD:151356909 NCBI chr 1:125,918,760...125,923,952
Ensembl chr 1:129,566,827...129,572,086
JBrowse link
G MLXIPL MLX interacting protein like treatment ISO RGD PMID:28458350 RGD:401799674 Ensembl chr 7:80,745,765...80,776,153 JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor treatment ISO RGD PMID:25790822 RGD:150519907 NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO RGD PMID:25385666 RGD:21201312 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 treatment ISO mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:30038487 RGD:15092090 NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
JBrowse link
G NOX4 NADPH oxidase 4 susceptibility ISO mRNA:increased expression:liver (rat) RGD PMID:20606728 RGD:21076282 NCBI chr11:84,330,362...84,496,755 JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment ISO mRNA, protein:altered expression:liver (rat) treatment with INT-767
mRNA:increased expression:liver (human)
RGD PMID:28774887 PMID:30038487 RGD:15045601 RGD:15092090 NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 treatment ISO mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:30038487 RGD:15092090 NCBI chr20:53,901,738...53,907,090
Ensembl chr20:55,179,429...55,184,920
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO mRNA:increased expression:liver (human) RGD PMID:21425308 RGD:127229938 NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
JBrowse link
G SCD stearoyl-CoA desaturase treatment ISO RGD PMID:28458350 RGD:401799674 NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO human gene in a mouse model
protein:increased expression:serum (human)
RGD PMID:26121037 PMID:28365916 RGD:27226700 RGD:27226705 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G SMAD4 SMAD family member 4 ISO protein:increased expression:liver: RGD PMID:29696816 RGD:18937002 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G SOD1 superoxide dismutase 1 susceptibility ISO mRNA:decreased expression:liver (rat) RGD PMID:20606728 RGD:21076282 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO mRNA:decreased expression:liver (rat) RGD PMID:20606728 PMID:24649902 RGD:21076282 RGD:26923960 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 treatment ISO mRNA, protein:altered expression:liver (rat) treatment with INT-767 RGD PMID:28458350 PMID:30038487 RGD:15092090 RGD:401799674 NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:29482933 RGD:15090806 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TNF tumor necrosis factor susceptibility ISO mRNA:increased expression:liver (rat)
mRNA:increased expression:liver (mouse)
RGD PMID:20606728 PMID:28100771 RGD:127285675 RGD:21076282 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G UBD ubiquitin D ISO protein:increased expression:liver (human) RGD PMID:30009772 RGD:401976534 NCBI chr 6:29,359,680...29,364,014
Ensembl chr 6:30,018,444...30,022,814
JBrowse link
metabolic dysfunction-associated steatotic liver disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO mRNA:increased expression:liver (rat) RGD PMID:22112382 RGD:11040992 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20040336 NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 severity ISO DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18926681 PMID:29341352 RGD:14700775 NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO protein:increased expression:liver RGD PMID:22112382 RGD:11040992 Ensembl chr17:49,603,268...49,659,318 JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 disease_progression ISO mRNA:increased expression:liver (rat) RGD PMID:23117815 PMID:25263431 RGD:15045604 RGD:15045610 NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 disease_progression ISO mRNA:increased expression:liver (rat)
mRNA:decreased expression:liver (rat)
RGD PMID:23117815 PMID:25263431 RGD:15045604 RGD:15045610 NCBI chr2A:43,922,787...43,966,678
Ensembl chr2A:44,771,247...44,904,830
JBrowse link
G ACACA acetyl-CoA carboxylase alpha treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
JBrowse link
G ACACB acetyl-CoA carboxylase beta treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr12:106,692,668...106,845,490
Ensembl chr12:110,086,374...110,239,847
JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain treatment ISO RGD PMID:23076603 RGD:10047124 NCBI chr 1:74,939,477...74,978,815
Ensembl chr 1:76,911,763...76,950,840
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain treatment ISO RGD PMID:22569299 PMID:23076603 RGD:10047121 RGD:10047124 NCBI chr17:7,249,717...7,255,165
Ensembl chr17:7,234,283...7,242,417
JBrowse link
G ACE angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ACO1 aconitase 1 ISO protein:increased activity:liver RGD PMID:23805238 RGD:11541090 NCBI chr 9:32,157,763...32,225,116
Ensembl chr 9:32,967,993...33,035,177
JBrowse link
G ACTB actin beta ISO protein:increased carbonylation:liver RGD PMID:25282656 RGD:11541097
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO mRNA, protein:increased expression, increased activity:liver, plasma (rat) RGD PMID:19652891 RGD:2315953 NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707
JBrowse link
G ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079
JBrowse link
G ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 4:91,522,444...91,543,086
Ensembl chr 4:102,183,956...102,206,923
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing disease_progression
susceptibility
treatment
ISO associated with obesity;protein:decreased expression:serum:
associated with Obesity, Morbid;
associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human)
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:liver
DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human)
DNA:hypermethylation
RGD
CTD
PMID:15239085 PMID:18713296 PMID:19606393 PMID:20415685 PMID:21255792 More... RGD:11076260 RGD:14401717 RGD:14401719 RGD:5685373 RGD:5686355 RGD:5686660 RGD:5686810 RGD:5686841 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G ADIPOR2 adiponectin receptor 2 severity
treatment
susceptibility
ISO mRNA:increased expression:liver (human)
DNA:missense mutation:cds: (human)
mRNA, protein:decreased expression:serum, liver (mouse)
mRNA:increased expression:liver (rat)
RGD PMID:17006986 PMID:19422483 PMID:25345946 PMID:25536648 PMID:26770322 More... RGD:1599139 RGD:24922200 RGD:24922201 RGD:25330097 RGD:25440492 RGD:25824941 NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251
JBrowse link
G ADRB3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R (rs4994) (human) RGD PMID:15318095 RGD:5684892 NCBI chr 8:37,263,730...37,267,475
Ensembl chr 8:34,441,311...34,443,949
JBrowse link
G AHCY adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29127188 NCBI chr20:30,603,701...30,626,835
Ensembl chr20:31,738,007...31,760,803
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29416063 NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171
JBrowse link
G ALDH1A1 aldehyde dehydrogenase 1 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 9:51,737,305...51,916,648
Ensembl chr 9:71,680,890...71,814,085
JBrowse link
G ALDH1B1 aldehyde dehydrogenase 1 family member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 9:38,239,413...38,244,751
Ensembl chr 9:39,164,392...39,165,945
JBrowse link
G ALDH1L2 aldehyde dehydrogenase 1 family member L2 ISO OMIM:613282 | OMIM:613387 MouseDO NCBI chr12:102,596,881...102,661,617
Ensembl chr12:105,997,045...106,056,607
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member susceptibility
treatment
ISO DNA:missense mutation:cds: (rs671) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:25392542 PMID:27214654 PMID:29718361 PMID:31026768 RGD:11536476 RGD:15036808 RGD:15042863 NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615
JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:20967760 RGD:5509622 NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669
JBrowse link
G APOA1 apolipoprotein A1 treatment ISO RGD PMID:26420354 RGD:25671437 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:21184788 RGD:6904141 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G APOH apolipoprotein H ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483
JBrowse link
G ATG7 autophagy related 7 ISO ClinVar Annotator: match by term: NAFLD1 ClinVar PMID:25741868 PMID:35405176 NCBI chr 3:11,208,600...11,488,757
Ensembl chr 3:11,554,100...11,833,398
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO RGD PMID:25222487 RGD:13703054 NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326
JBrowse link
G ATP5F1B ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25666834 NCBI chr12:32,264,570...32,272,419
Ensembl chr12:32,519,749...32,527,753
JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr11:129,200,676...129,269,650
Ensembl chr11:133,089,603...133,117,492
JBrowse link
G C1QC complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:35789393 NCBI chr 1:21,828,969...21,833,518
Ensembl chr 1:22,770,582...22,782,176
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO protein:increased expression:plasma RGD PMID:24927058 PMID:25813056 RGD:14995922 RGD:14995928 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL5 C-C motif chemokine ligand 5 treatment
disease_progression
ISO RGD PMID:27639593 RGD:14995335 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CCR2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism: :190A>G(human) RGD PMID:26591766 RGD:14995492 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CD14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20353583 NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:31027316 RGD:127345132 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO mRNA:increased expression:liver RGD PMID:21216282 PMID:24280415 RGD:11041117 RGD:6893543 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr2B:51,932,252...52,117,506
Ensembl chr2B:169,322,029...169,477,690
JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:17241878 PMID:23703580 RGD:2308807 RGD:8552713 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29289645 PMID:31211621 RGD:14747028 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481
JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 treatment ISO RGD PMID:28824718 RGD:27095887 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15706422 NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27565560 NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO protein:decreased expression:liver (mouse) RGD PMID:29710028 RGD:25671411 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:25317811 PMID:26428356 PMID:26703967 PMID:28458161 RGD:11573192 RGD:14700871 RGD:14700881 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO mRNA:decreased expression:liver (rat) RGD PMID:25263431 RGD:15045610 NCBI chr 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716
JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 treatment ISO RGD PMID:17618857 PMID:24166662 PMID:26394137 RGD:10400900 RGD:10401056 RGD:329955565 NCBI chr11:70,824,791...70,857,530
Ensembl chr11:74,126,169...74,158,854
JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr 7:7,382,669...7,418,469
Ensembl chr 7:6,222,187...6,256,252
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO RGD PMID:24351808 RGD:9588320 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22841818 NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23127599 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FASN fatty acid synthase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647
JBrowse link
G FGF21 fibroblast growth factor 21 severity ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:26797127 PMID:29289645 PMID:32195457 RGD:25330354 NCBI chr19:45,755,466...45,758,472 JBrowse link
G FGFR1 fibroblast growth factor receptor 1 severity ISO RGD PMID:32195457 RGD:25330354 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
JBrowse link
G FOLR2 folate receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30794826 NCBI chr11:67,295,305...67,300,463
Ensembl chr11:70,518,931...70,524,088
JBrowse link
G FOXO1 forkhead box O1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:30186875 RGD:14401598 NCBI chr13:21,763,729...21,874,279 JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:liver
CTD
RGD
PMID:23329013 PMID:35654975 RGD:329951008 NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231
JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 treatment ISO associated with type 2 diabetes mellitus RGD PMID:27840945 PMID:30100243 RGD:14695535 RGD:14695545 NCBI chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase treatment ISO RGD PMID:20211032 RGD:10449177 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G GNMT glycine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31086990 NCBI chr 6:42,550,631...42,554,385
Ensembl chr 6:43,846,560...43,849,679
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr10:108,747,370...108,781,270
Ensembl chr10:112,186,744...112,246,549
JBrowse link
G GPT glutamic--pyruvic transaminase severity ISO protein:increased activity:plasma
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22922605 PMID:24768200 PMID:35654975 RGD:14975160 RGD:14975251 Ensembl chr 8:144,259,991...144,263,737 JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO protein:increased activity:plasma RGD PMID:22922605 RGD:14975251 NCBI chr16:27,150,159...27,197,006
Ensembl chr16:46,040,439...46,086,840
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:24597775 RGD:11352823 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:24622831 RGD:10401873 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23643483 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO protein:decreased expression:liver RGD PMID:24782632 RGD:14694831 NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO associated with iron overload;protein:increased expression:serum (human)
mRNA:increased expression:liver (human)
RGD PMID:28051796 PMID:29871592 RGD:15042878 RGD:15042880 NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
JBrowse link
G HFE homeostatic iron regulator ISO DNA:missense mutation:cds:p.C282Y (human)
DNA:missense mutation:CDS:p.H63D
RGD PMID:9453491 PMID:11473047 RGD:1601452 RGD:8694420 NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase disease_progression ISO mRNA:decreased expression:liver (rat)
mRNA:altered expression:liver (rat)
RGD PMID:19913842 PMID:23117815 PMID:25263431 RGD:15045604 RGD:15045610 RGD:5508690 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:35732081 RGD:401900606 NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
JBrowse link
G IDE insulin degrading enzyme ISO RGD PMID:26576191 RGD:13792804 NCBI chr10:89,196,295...89,320,223
Ensembl chr10:92,716,540...92,833,353
JBrowse link
G IFI30 IFI30 lysosomal thiol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr19:17,652,935...17,657,239
Ensembl chr19:18,629,663...18,635,046
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility ISO associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) RGD PMID:24275070 RGD:12904726 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IGF1R insulin like growth factor 1 receptor susceptibility ISO associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) RGD PMID:24275070 RGD:12904726 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G IGFBP7 insulin like growth factor binding protein 7 treatment
disease_progression
ISO mRNA:increased expression:liver (rat)
mRNA:increased expression:liver (human)
RGD PMID:31397492 PMID:31805951 PMID:35312185 PMID:36034446 RGD:401960873 RGD:401960876 RGD:401960878 RGD:401960879 NCBI chr 4:66,808,845...66,888,301
Ensembl chr 4:73,382,745...73,462,087
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21115542 NCBI chr  X:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092
JBrowse link
G IL10 interleukin 10 severity ISO associated with morbid obesity RGD PMID:25894568 RGD:14975151 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:serum RGD PMID:18802068 RGD:4145478 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
JBrowse link
G IL18 interleukin 18 treatment
severity
ISO protein:increased expression:plasma RGD PMID:20422882 PMID:24006666 PMID:28660148 RGD:14696664 RGD:14696674 RGD:8655964 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta no_association ISO DNA:SNPs:CDS:rs1143634 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:CDS:rs16944 (human)
RGD
CTD
PMID:27730688 PMID:32613381 RGD:14975293 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL1RN interleukin 1 receptor antagonist severity ISO associated with morbid obesity, protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22027586 PMID:35654975 RGD:14401582 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G IL3 interleukin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G IL6 interleukin 6 ISO mRNA,protein:increased expression:liver,plasma
DNA:SNPs:promoter:rs10499563, rs1800795 (human)
RGD PMID:18510618 PMID:27730688 RGD:14975293 RGD:7829808 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:32613381 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G INSR insulin receptor treatment
susceptibility
ISO DNA:deletion:cds:codon 306 in exon 4 (mouse)
DNA:deletion:cds: (codon 306, exon 4) (mouse)
RGD PMID:28468951 PMID:29325294 RGD:14700929 RGD:14700932 NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
JBrowse link
G IRS1 insulin receptor substrate 1 ISO RGD PMID:20846698 RGD:6483014 NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
JBrowse link
G IRS2 insulin receptor substrate 2 ISO RGD PMID:20846698 RGD:6483014 NCBI chr13:90,886,095...90,917,724 JBrowse link
G JAK2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18782535 PMID:28100771 RGD:6483030 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
JBrowse link
G KLB klotho beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr 4:33,736,350...33,780,309
Ensembl chr 4:39,588,702...39,632,480
JBrowse link
G KRT18 keratin 18 disease_progression ISO protein:increased expression:serum (human)
associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat)
protein:increased degradation:serum (rat)
RGD PMID:29989845 PMID:30089409 PMID:30149902 PMID:30839434 RGD:18337481 RGD:18337482 RGD:18337497 RGD:26884460 NCBI chr12:35,807,660...35,811,691
Ensembl chr12:36,587,149...36,591,196
JBrowse link
G LAMA1 laminin subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr18:7,159,568...7,335,363
Ensembl chr18:9,482,895...9,656,800
JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20938947 PMID:23127599 PMID:23285030 NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
JBrowse link
G LEP leptin ISO associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human)
OMIM:613282 | OMIM:613387
associated with type 2 diabetes mellitus;protein:increased expression:serum (human)
associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
RGD
MouseDO
CTD
PMID:18713300 PMID:20476641 PMID:24211274 PMID:30052309 RGD:2311137 RGD:25330346 RGD:25330349 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:SNP:cds:p.Q223R(human)
OMIM:613282 | OMIM:613387
DNA:intron:c.2673+1118C>T (rs6700896) (human)
RGD
MouseDO
PMID:22215535 PMID:27257426 RGD:14696694 RGD:21079462 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G LIF LIF interleukin 6 family cytokine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr22:11,276,576...11,282,972
Ensembl chr22:29,078,862...29,095,608
JBrowse link
G LOC100971436 alcohol dehydrogenase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29718361 NCBI chr 4:91,697,663...91,712,314
Ensembl chr 4:102,359,419...102,374,101
JBrowse link
G LOC100972354 interferon alpha-2 ISO associated with obesity, protein:increased expression:serum (human) RGD PMID:30602382 RGD:21406431 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
JBrowse link
G LOC100980944 delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr19:35,909,348...35,925,686
Ensembl chr19:44,479,561...44,489,355
JBrowse link
G LOC100980965 zinc-alpha-2-glycoprotein treatment ISO RGD PMID:27982256 RGD:153352323 NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219
JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:27978932 PMID:30214514 RGD:13793398 RGD:13794377 NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment ISO associated with Diabetes Mellitus, Type 2;
protein:increased phosphorylation:adipose tissue, liver (rat)
RGD PMID:24404139 PMID:27909723 RGD:13506784 RGD:150340686 NCBI chr10:45,806,748...45,936,362 JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression ISO RGD PMID:24845607 RGD:14694829 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
JBrowse link
G MFN2 mitofusin 2 treatment ISO RGD PMID:26401075 RGD:13204743 NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G MLXIPL MLX interacting protein like treatment ISO RGD PMID:26394137 RGD:329955565 Ensembl chr 7:80,745,765...80,776,153 JBrowse link
G MLYCD malonyl-CoA decarboxylase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr16:64,520,860...64,537,955
Ensembl chr16:83,912,793...83,929,162
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity
susceptibility
ISO DNA:SNP: :1298A > C (human)
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD PMID:17563923 PMID:24488901 RGD:14696706 RGD:14696748 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:15094225 PMID:35654975 RGD:1581245 NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase treatment ISO RGD PMID:27982256 RGD:153352323 NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23592516 PMID:25294219 RGD:10412712 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO OMIM:613282 | OMIM:613387 MouseDO NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA, protein:increased expression:liver (mouse) RGD PMID:21948338 RGD:5509578 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:28932253 PMID:29289645 RGD:13434914 NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO mRNA:decreased expression:liver (rat) RGD PMID:25263431 RGD:15045610 NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 disease_progression
susceptibility
treatment
ISO CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:liver (rat)
DNA:deletion:cds:exon 9 (mouse)
mRNA:increased expression:liver (rat)
RGD
CTD
PMID:23117815 PMID:23700488 PMID:25263431 PMID:29142166 PMID:29743187 More... RGD:14696797 RGD:14701033 RGD:15045604 RGD:15045610 RGD:15090799 NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
JBrowse link
G NR5A2 nuclear receptor subfamily 5 group A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr 1:175,625,140...175,775,955
Ensembl chr 1:179,934,573...180,083,607
JBrowse link
G PDK4 pyruvate dehydrogenase kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr 7:87,540,600...87,553,673
Ensembl chr 7:101,128,060...101,141,157
JBrowse link
G PEMT phosphatidylethanolamine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29416063 NCBI chr17:33,703,800...33,790,470
Ensembl chr17:38,651,024...38,737,202
JBrowse link
G PGRMC1 progesterone receptor membrane component 1 ISO OMIM:613282 | OMIM:613387 MouseDO NCBI chr  X:108,282,958...108,291,187
Ensembl chr  X:118,711,495...118,719,714
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase treatment ISO RGD PMID:29031784 RGD:13831310 NCBI chr10:13,277,804...13,300,115
Ensembl chr10:13,251,223...13,636,018
JBrowse link
G PKLR pyruvate kinase L/R treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO protein:increased expression:serum RGD PMID:22112193 RGD:6482771 NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
JBrowse link
G PNPLA3 patatin like phospholipase domain containing 3 susceptibility ISO DNA:SNPs: :
ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease
RGD
ClinVar
PMID:18820647 PMID:21381068 PMID:24033266 PMID:24917523 PMID:25290313 More... RGD:13463463 NCBI chr22:24,812,831...24,836,161
Ensembl chr22:43,004,499...43,027,003
JBrowse link
G PON2 paraoxonase 2 treatment ISO RGD PMID:22536512 RGD:8661257 NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:23603006 PMID:31211621 RGD:14747028 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16574099 PMID:29289645 NCBI chr 6:34,903,798...34,987,208
Ensembl chr 6:36,003,988...36,081,132
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment
susceptibility
ISO associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human) RGD PMID:21373642 PMID:23269818 PMID:26394137 RGD:329955565 RGD:6484527 RGD:7241847 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G PPARGC1B PPARG coactivator 1 beta treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr 5:145,154,517...145,315,567
Ensembl chr 5:151,203,088...151,278,837
JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor ISO OMIM:613282 | OMIM:613387 MouseDO Ensembl chr20:61,446,522...61,447,653 JBrowse link
G PRDX3 peroxiredoxin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:34678374 NCBI chr10:115,738,346...115,749,482
Ensembl chr10:119,162,714...119,173,845
JBrowse link
G PRF1 perforin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205
JBrowse link
G PRKCA protein kinase C alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr17:60,246,485...60,747,158
Ensembl chr17:65,454,907...65,947,903
JBrowse link
G PRKCD protein kinase C delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910
JBrowse link
G PRKCE protein kinase C epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr2A:45,757,629...46,294,064
Ensembl chr2A:46,688,436...47,220,313
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:26023714 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 treatment ISO RGD PMID:26723251 RGD:11086779 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G RAG2 recombination activating 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24211274 NCBI chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286
JBrowse link
G RARRES2 retinoic acid receptor responder 2 disease_progression ISO mRNA:decreased expression:liver
mRNA, protein:decreased expression:liver,serum
RGD PMID:23507574 RGD:15036822 NCBI chr 7:141,953,600...141,956,991
Ensembl chr 7:154,106,275...154,109,635
JBrowse link
G RDX radixin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29341352 NCBI chr11:105,075,716...105,176,660
Ensembl chr11:108,921,477...109,005,557
JBrowse link
G RETN resistin ISO protein:increased expression:serum RGD PMID:20560816 RGD:7207249 NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
JBrowse link
G SAMM50 SAMM50 sorting and assembly machinery component ISO DNA:SNPs: : RGD PMID:26740948 RGD:13463463 NCBI chr22:24,844,400...24,886,056
Ensembl chr22:43,035,981...43,076,977
JBrowse link
G SCARB1 scavenger receptor class B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23127599 NCBI chr12:122,293,803...122,455,314
Ensembl chr12:126,659,532...126,694,767
JBrowse link
G SCD stearoyl-CoA desaturase treatment ISO RGD PMID:26394137 RGD:329955565 NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776
JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419
JBrowse link
G SERPINB2 serpin family B member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr18:57,242,498...57,258,676
Ensembl chr18:60,553,323...60,569,594
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:blood: RGD PMID:25091195 RGD:13208545 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SIDT2 SID1 transmembrane family member 2 ISO OMIM:613282 | OMIM:613387 MouseDO NCBI chr11:112,012,734...112,031,403
Ensembl chr11:115,946,725...115,963,408
JBrowse link
G SIRT1 sirtuin 1 severity
treatment
ISO protein:decreased expression:liver
associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:17498258 PMID:20033348 PMID:22902550 PMID:26026874 RGD:9585663 RGD:9585746 RGD:9586021 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G SIRT2 sirtuin 2 treatment ISO associated with Obesity RGD PMID:22327056 RGD:9586049 NCBI chr19:35,984,453...36,005,582
Ensembl chr19:44,533,965...44,554,799
JBrowse link
G SIRT3 sirtuin 3 treatment ISO associated with Obesity RGD PMID:22327056 RGD:9586049 NCBI chr11:210,052...233,969
Ensembl chr11:255,191...278,732
JBrowse link
G SIRT4 sirtuin 4 ISO RGD PMID:20651844 RGD:9586052 NCBI chr12:117,867,453...117,887,968
Ensembl chr12:121,241,112...121,261,777
JBrowse link
G SIRT6 sirtuin 6 treatment ISO RGD PMID:21373642 RGD:6484527 NCBI chr19:3,196,092...3,204,602
Ensembl chr19:4,146,057...4,154,126
JBrowse link
G SOD2 superoxide dismutase 2 treatment ISO RGD PMID:15094225 PMID:24597775 RGD:11352823 RGD:1581245 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 disease_progression
treatment
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:liver (mouse)
CTD
RGD
PMID:23603006 PMID:24633463 PMID:26394137 PMID:29173234 RGD:329955565 RGD:401827867 NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:18782535 RGD:6483030 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G STC2 stanniocalcin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chr 5:168,668,851...168,681,274
Ensembl chr 5:175,575,419...175,587,832
JBrowse link
G TFF3 trefoil factor 3 treatment ISO mRNA,protein:decreased expression:liver: RGD PMID:31211621 RGD:14747028 NCBI chr21:28,627,191...28,631,341
Ensembl chr21:41,948,696...41,952,268
JBrowse link
G TFRC transferrin receptor ISO protein:increased expression:liver RGD PMID:23805238 RGD:11541090 NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
JBrowse link
G TG thyroglobulin sexual_dimorphism ISO RGD PMID:30016121 RGD:401976499 NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 PMID:32613381 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TLR4 toll like receptor 4 severity
treatment
ISO mRNA:increased expression:liver: RGD PMID:22253482 PMID:23301938 PMID:25413054 RGD:14700656 RGD:14700658 RGD:7777122 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TM6SF2 transmembrane 6 superfamily member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531328 NCBI chr19:18,703,075...18,712,056
Ensembl chr19:19,706,235...19,715,096
JBrowse link
G TNF tumor necrosis factor treatment
severity
ISO CTD Direct Evidence: marker/mechanism
associated with morbid obesity
protein:increased expression:serum, liver (rat)
RGD
CTD
PMID:19034968 PMID:25219124 PMID:25894568 PMID:32613381 RGD:10450574 RGD:14975151 RGD:14995482 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 severity ISO RGD PMID:27253414 RGD:151347600 NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20353583 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
JBrowse link
G TRIB1 tribbles pseudokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35654975 NCBI chr 8:122,115,194...122,123,319
Ensembl chr 8:124,867,359...124,872,924
JBrowse link
G TRIB3 tribbles pseudokinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr20:583,267...605,416
Ensembl chr20:359,879...375,486
JBrowse link
G UCP2 uncoupling protein 2 treatment ISO mRNA:increased expression:liver
mRNA, protein:increased expression:liver
RGD PMID:18308829 PMID:18543254 PMID:21359922 RGD:7175312 RGD:7204434 RGD:7204435 NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
JBrowse link
G VDR vitamin D receptor treatment ISO mRNA,protein:increased expression:hepatocyte: RGD PMID:27245430 RGD:14401753 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G VLDLR very low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29289645 NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
JBrowse link
G XBP1 X-box binding protein 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24097666 PMID:26394137 RGD:329955565 NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943
JBrowse link
metachromatic leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADM2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,729,236...30,734,801
Ensembl chr22:49,715,342...49,719,989
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 PMID:28842795 NCBI chr  X:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271
JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,110,873...30,139,359
Ensembl chr22:49,126,234...49,136,740
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chr2A:73,438,657...73,671,313
Ensembl chr2A:74,926,650...75,152,139
JBrowse link
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
OMIM
ClinVar
PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 More... NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099
JBrowse link
G ARSB arylsulfatase B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:1550123 PMID:8116615 PMID:8651289 PMID:10923267 PMID:11939792 More... NCBI chr 5:36,325,581...36,534,371
Ensembl chr 5:36,804,874...37,023,739
JBrowse link
G BRD1 bromodomain containing 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:29,993,902...30,048,349
Ensembl chr22:48,998,037...49,048,101
JBrowse link
G CHKB choline kinase beta ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,825,128...30,829,203
Ensembl chr22:49,936,470...49,940,625
JBrowse link
G CIMAP1B ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,776,765...30,779,060
Ensembl chr22:49,887,093...49,889,488
JBrowse link
G CPT1B carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,815,073...30,825,341
Ensembl chr22:49,926,893...49,935,420
JBrowse link
G CRELD2 cysteine rich with EGF like domains 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,139,539...30,152,462
Ensembl chr22:49,141,973...49,156,375
JBrowse link
G DENND6B DENN domain containing 6B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,541,364...30,556,150
Ensembl chr22:49,539,957...49,547,464
JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:11704758 PMID:15136673 PMID:17646634 PMID:21307862 PMID:25089094 More... NCBI chr 3:181,170,806...181,180,923
Ensembl chr 3:189,652,554...189,665,528
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:9238033 PMID:11335038 PMID:11709541 PMID:19085937 PMID:19934020 More... NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Arylsulfatase A Deficiency ClinVar PMID:25741868 NCBI chr  X:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999
JBrowse link
G HDAC10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,473,753...30,481,369
Ensembl chr22:49,473,369...49,479,216
JBrowse link
G IL17REL interleukin 17 receptor E like ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,221,096...30,240,052
Ensembl chr22:49,226,640...49,231,051
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 PMID:33260297 NCBI chr16:56,196,867...56,216,909
Ensembl chr16:75,545,002...75,565,043
JBrowse link
G KLHDC7B kelch domain containing 7B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,792,136...30,797,297 JBrowse link
G LMF2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,749,448...30,754,616
Ensembl chr22:49,859,550...49,864,237
JBrowse link
G LOC100976808 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,769,899...30,772,008
Ensembl chr22:49,879,867...49,880,667
JBrowse link
G LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
JBrowse link
G MAL mal, T cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr2A:104,355,020...104,382,849
Ensembl chr2A:95,930,315...95,956,573
JBrowse link
G MAPK11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,492,664...30,499,456
Ensembl chr22:49,492,693...49,495,732
JBrowse link
G MAPK12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,481,898...30,490,769
Ensembl chr22:49,481,763...49,489,599
JBrowse link
G MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,846,613...30,857,737
Ensembl chr22:49,957,769...49,966,986
JBrowse link
G MIOX myo-inositol oxygenase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,735,206...30,738,738
Ensembl chr22:49,720,339...49,724,370
JBrowse link
G MLC1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,287,928...30,316,094
Ensembl chr22:49,289,366...49,315,112
JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,320,202...30,391,121
Ensembl chr22:49,319,203...49,389,765
JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,754,994...30,771,103
Ensembl chr22:49,873,223...49,881,027
JBrowse link
G PANX2 pannexin 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,398,717...30,408,358
Ensembl chr22:49,404,624...49,408,045
JBrowse link
G PIM3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,186,716...30,190,270 JBrowse link
G PLXNB2 plexin B2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,503,884...30,537,082
Ensembl chr22:49,502,489...49,517,613
JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:21855841 PMID:25339210 PMID:25741868 PMID:27612211 PMID:28459997 More... NCBI chr10:74,496,121...74,550,054 JBrowse link
G PPP6R2 protein phosphatase 6 regulatory subunit 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,572,446...30,690,242
Ensembl chr22:49,600,643...49,674,482
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild
ClinVar PMID:1371116 PMID:9536098 PMID:10196694 PMID:17576681 PMID:17616409 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 PMID:28842795 NCBI chr  X:119,298,428...119,311,625
Ensembl chr  X:129,591,222...129,605,214
JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,691,976...30,723,128
Ensembl chr22:49,676,467...49,704,633
JBrowse link
G SELENOO selenoprotein O ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,429,334...30,446,169 JBrowse link
G SYCE3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,797,389...30,809,517
Ensembl chr22:49,908,095...49,913,903
JBrowse link
G TRABD TraB domain containing ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,413,948...30,427,935
Ensembl chr22:49,421,306...49,428,530
JBrowse link
G TTLL8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,242,515...30,286,759
Ensembl chr22:49,245,796...49,286,113
JBrowse link
G TUBGCP6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,446,242...30,473,635
Ensembl chr22:49,446,405...49,472,463
JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,772,088...30,776,618 JBrowse link
G ZBED4 zinc finger BED-type containing 4 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:8962139 PMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 More... NCBI chr22:30,075,081...30,111,359 JBrowse link
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency OMIM
ClinVar
PMID:1371116 PMID:2019586 PMID:8554069 PMID:9536098 PMID:10196694 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781
JBrowse link
microvillus inclusion disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC42 cell division cycle 42 ISO OMIM:251850 MouseDO NCBI chr 1:21,245,970...21,286,210 JBrowse link
G MYO5B myosin VB ISO ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 More... NCBI chr18:43,207,387...43,575,951
Ensembl chr18:46,555,259...46,786,223
JBrowse link
mucolipidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 More... NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:24033266 PMID:25741868 Ensembl chr16:1,407,385...1,418,523 JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 PMID:11317355 More... NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093
JBrowse link
mucolipidosis II alpha/beta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Inclusion cell disease | ClinVar Annotator: match by term: Mucolipidosis type II OMIM
ClinVar
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 More... NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
JBrowse link
Mucolipidosis III Alpha Beta, Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical ClinVar PMID:9536098 PMID:15633164 PMID:17576681 PMID:28492532 NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
JBrowse link
mucolipidosis III alpha/beta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta | ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy OMIM
ClinVar
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More... NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
JBrowse link
mucolipidosis III gamma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma OMIM
ClinVar
PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 More... Ensembl chr16:1,407,385...1,418,523 JBrowse link
G UNKL unk like zinc finger ISO ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM ClinVar NCBI chr16:11,145...39,682
Ensembl chr16:1,418,377...1,457,134
JBrowse link
mucolipidosis type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,861,870...7,892,442
Ensembl chr19:8,708,164...8,737,556
JBrowse link
G ADGRE1 adhesion G protein-coupled receptor E1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,918,097...5,970,069
Ensembl chr19:6,838,787...6,891,292
JBrowse link
G ALKBH7 alkB homolog 7 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,393,317...5,395,886
Ensembl chr19:6,315,604...6,318,170
JBrowse link
G ANGPTL4 angiopoietin like 4 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,649,429...7,660,154
Ensembl chr19:8,499,858...8,510,148
JBrowse link
G ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,677,468...6,763,286 JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CAMSAP3 calmodulin regulated spectrin associated protein family member 3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,885,979...6,908,067
Ensembl chr19:7,749,945...7,763,056
JBrowse link
G CCL25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,307,109...7,363,983
Ensembl chr19:8,208,273...8,217,780
JBrowse link
G CD209 CD209 molecule ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,042,033...7,047,350 JBrowse link
G CD320 CD320 molecule ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,587,760...7,594,055
Ensembl chr19:8,438,955...8,445,464
JBrowse link
G CD70 CD70 molecule ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,615,056...5,621,055
Ensembl chr19:6,535,559...6,542,310
JBrowse link
G CERS4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,509,213...7,562,394
Ensembl chr19:8,364,569...8,415,345
JBrowse link
G CLEC4G C-type lectin domain family 4 member G ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,015,848...7,019,396
Ensembl chr19:7,870,730...7,873,631
JBrowse link
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,382,323...5,389,788
Ensembl chr19:6,304,462...6,312,077
JBrowse link
G CRB3 crumbs cell polarity complex component 3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,485,925...5,494,853
Ensembl chr19:6,414,370...6,417,485
JBrowse link
G CTXN1 cortexin 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,225,738...7,227,412
Ensembl chr19:8,079,181...8,079,429
JBrowse link
G DENND1C DENN domain containing 1C ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,495,078...5,516,532
Ensembl chr19:6,417,475...6,433,162
JBrowse link
G ELAVL1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,259,829...7,306,808
Ensembl chr19:8,114,849...8,147,137
JBrowse link
G EVI5L ecotropic viral integration site 5 like ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,132,274...7,167,051
Ensembl chr19:7,985,803...8,018,455
JBrowse link
G FBN3 fibrillin 3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,366,530...7,450,545
Ensembl chr19:8,222,701...8,305,586
JBrowse link
G FCER2 Fc epsilon receptor II ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,978,116...6,989,986
Ensembl chr19:7,834,106...7,844,924
JBrowse link
G GPR108 G protein-coupled receptor 108 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,762,576...5,770,169
Ensembl chr19:6,684,024...6,691,620
JBrowse link
G GTF2F1 general transcription factor IIF subunit 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,401,090...5,414,142
Ensembl chr19:6,323,780...6,336,215
JBrowse link
G HNRNPM heterogeneous nuclear ribonucleoprotein M ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,731,828...7,776,101
Ensembl chr19:8,579,211...8,624,029
JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
JBrowse link
G KANK3 KN motif and ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,608,301...7,628,936 JBrowse link
G KHSRP KH-type splicing regulatory protein ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,433,989...5,445,721 JBrowse link
G LOC100978434 C-type lectin domain family 4 member M ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,062,961...7,069,381 JBrowse link
G LOC100983712 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,919,469...6,921,359 JBrowse link
G LRRC8E leucine rich repeat containing 8 VRAC subunit E ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,189,490...7,203,310
Ensembl chr19:8,041,185...8,055,684
JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512
JBrowse link
G MARCHF2 membrane associated ring-CH-type finger 2 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,699,828...7,726,094
Ensembl chr19:8,554,242...8,573,672
JBrowse link
G MCEMP1 mast cell expressed membrane protein 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,966,022...6,969,354
Ensembl chr19:7,821,177...7,827,590
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Mucolipidosis type 4 | ClinVar Annotator: match by term: Mucolipidosis type IV OMIM
ClinVar
PMID:9536098 PMID:10441585 PMID:10973263 PMID:11013137 PMID:11030752 More... NCBI chr19:6,813,498...6,825,153
Ensembl chr19:7,671,704...7,683,093
JBrowse link
G MYO1F myosin IF ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,807,863...7,858,955
Ensembl chr19:8,656,082...8,705,107
JBrowse link
G NDUFA7 NADH:ubiquinone oxidoreductase subunit A7 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,597,055...7,607,149
Ensembl chr19:8,448,211...8,458,270
JBrowse link
G PCP2 Purkinje cell protein 2 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,921,350...6,923,618
Ensembl chr19:7,776,331...7,779,241
JBrowse link
G PEX11G peroxisomal biogenesis factor 11 gamma ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,763,676...6,782,075
Ensembl chr19:7,626,021...7,639,174
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241
JBrowse link
G PRAM1 PML-RARA regulated adaptor molecule 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,775,887...7,789,657 JBrowse link
G PSPN persephin ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,396,022...5,398,108
Ensembl chr19:6,318,428...6,320,344
JBrowse link
G RAB11B RAB11B, member RAS oncogene family ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,676,095...7,690,177 JBrowse link
G RETN resistin ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909
JBrowse link
G RPS28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,607,197...7,608,113
Ensembl chr19:8,458,321...8,459,250
JBrowse link
G SAXO5 stabilizer of axonemal microtubules 5 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,788,323...6,799,578 JBrowse link
G SH2D3A SH2 domain containing 3A ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,784,482...5,800,339
Ensembl chr19:6,706,040...6,720,757
JBrowse link
G SLC25A23 solute carrier family 25 member 23 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,474,538...5,487,364
Ensembl chr19:6,388,937...6,410,480
JBrowse link
G SLC25A41 solute carrier family 25 member 41 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,446,931...5,449,135
Ensembl chr19:6,371,338...6,382,413
JBrowse link
G SNAPC2 small nuclear RNA activating complex polypeptide 2 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,221,613...7,224,501
Ensembl chr19:8,074,290...8,076,662
JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038
JBrowse link
G TGFBR3L transforming growth factor beta receptor 3 like ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,216,766...7,220,394
Ensembl chr19:8,070,344...8,072,052
JBrowse link
G TIMM44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:7,227,965...7,245,045
Ensembl chr19:8,081,069...8,100,479
JBrowse link
G TNFSF14 TNF superfamily member 14 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,691,648...5,700,935
Ensembl chr19:6,614,378...6,621,763
JBrowse link
G TNFSF9 TNF superfamily member 9 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,558,021...5,562,901
Ensembl chr19:6,476,941...6,483,352
JBrowse link
G TRAPPC5 trafficking protein particle complex subunit 5 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,970,318...6,972,378 JBrowse link
G TRIP10 thyroid hormone receptor interactor 10 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,772,225...5,784,078
Ensembl chr19:6,693,646...6,705,399
JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112
JBrowse link
G XAB2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,909,281...6,919,332
Ensembl chr19:7,764,264...7,774,305
JBrowse link
G ZNF358 zinc finger protein 358 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532 NCBI chr19:6,806,690...6,811,914
Ensembl chr19:7,668,319...7,670,046
JBrowse link
G ZNF414 zinc finger protein 414 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:28492532 NCBI chr19:7,797,356...7,801,278 JBrowse link
G ZNF557 zinc finger protein 557 ISO ClinVar Annotator: match by term: Mucolipidosis type IV ClinVar PMID:11030752 PMID:11317355 PMID:28492532
mucopolysaccharidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSG arylsulfatase G ISO OMIM:252700 MouseDO NCBI chr17:62,195,977...62,379,362
Ensembl chr17:67,588,347...67,768,454
JBrowse link
G ARSK arylsulfatase family member K ISO OMIM:252700 MouseDO NCBI chr 5:19,744,154...19,794,098
Ensembl chr 5:19,890,869...19,939,068
JBrowse link
G CARD14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Mucopolysaccharidoses ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chr17:74,620,152...74,636,895
Ensembl chr17:80,342,810...80,369,707
JBrowse link
G GUSB glucuronidase beta disease_progression ISO protein:decreases activity:spleen, kidney, lung (rat) RGD PMID:2879381 RGD:42724461 NCBI chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:17033958 PMID:18024218 PMID:19479962 PMID:19823584 PMID:20583299 More... NCBI chr 8:42,388,406...42,448,466 JBrowse link
G HYAL1 hyaluronidase 1 ISO mucopolysaccharidosis IX, OMIM:601492 DNA:point_mutation,rearrangement:CDS:compound heterozygote G1412A -> amino acid E268K, 1361del37ins14 RGD PMID:10339581 RGD:1599811 NCBI chr 3:50,228,491...50,238,798
Ensembl chr 3:51,463,239...51,467,286
JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: IDUA pseudodeficiency | ClinVar Annotator: match by term: Mucopolysaccharidoses ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:8554071 More... NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:8650226 PMID:9443875 PMID:9832037 PMID:9950362 PMID:10094189 More... NCBI chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... NCBI chr17:74,636,854...74,647,958
Ensembl chr17:80,371,790...80,381,703
JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidoses ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 More... NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
JBrowse link
G SLC26A11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:9158154 PMID:9285796 PMID:9554748 PMID:9744479 PMID:10521831 More... NCBI chr17:74,647,880...74,681,247
Ensembl chr17:80,381,942...80,414,210
JBrowse link
mucopolysaccharidosis I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDUA alpha-L-iduronidase treatment ISO ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: IDUA-related condition | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 RGD
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:1627351 More... RGD:12910497 RGD:12910499 RGD:12910502 RGD:12910503 RGD:12910508 RGD:12910510 RGD:12910716 RGD:12910719 RGD:12910720 RGD:329961545 RGD:329961548 RGD:329961554 NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 More... NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
JBrowse link
mucopolysaccharidosis Ih term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH OMIM
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
JBrowse link
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:25741868 NCBI chr 5:130,422,920...130,429,828
Ensembl chr 5:136,565,285...136,570,350
JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 More... NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
JBrowse link
mucopolysaccharidosis Ih/s term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S OMIM
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:4221470 PMID:7550232 More... NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S ClinVar PMID:1301941 PMID:1505961 PMID:7550242 PMID:7951228 PMID:8213840 More... NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
JBrowse link
mucopolysaccharidosis II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDS iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form OMIM
ClinVar
PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 More... NCBI chr  X:138,493,117...138,520,017
Ensembl chr  X:148,912,475...148,946,441
JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II ClinVar PMID:25741868 NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
JBrowse link
mucopolysaccharidosis III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chr17:74,620,152...74,636,895
Ensembl chr17:80,342,810...80,369,707
JBrowse link
G COASY Coenzyme A synthase susceptibility ISO DNA:nonsense mutation, splice-site mutation, missense mutations:multiple RGD PMID:11153910 RGD:1642057 NCBI chr17:14,750,246...14,754,417
Ensembl chr17:14,973,662...14,977,797
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20232353 PMID:25741868 More... NCBI chr12:24,164,127...24,209,963
Ensembl chr12:24,667,603...24,712,939
JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 More... NCBI chr 8:42,388,406...42,448,466 JBrowse link
G IDS iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency ClinVar PMID:1303211 PMID:1550586 PMID:8318991 PMID:18414213 PMID:18500569 More... NCBI chr  X:138,493,117...138,520,017
Ensembl chr  X:148,912,475...148,946,441
JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... NCBI chr17:74,636,854...74,647,958
Ensembl chr17:80,371,790...80,381,703
JBrowse link
G SLC26A11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:9158154 PMID:9285796 PMID:9554748 PMID:9744479 PMID:10521831 More... NCBI chr17:74,647,880...74,681,247
Ensembl chr17:80,381,942...80,414,210
JBrowse link
mucopolysaccharidosis IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome ClinVar PMID:7633425 PMID:7668283 PMID:7795586 PMID:8829629 PMID:9298823 More... NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036
JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G LOC100980531 eotaxin ISO protein:decreased expression:plasma RGD PMID:22176730 RGD:7247741 NCBI chr17:22,495,737...22,515,144
Ensembl chr17:22,806,076...22,808,345
Ensembl chr17:22,806,076...22,808,345
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chr 3:33,024,623...33,031,877 JBrowse link
mucopolysaccharidosis IVA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar
PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036
JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr16:69,571,438...69,575,556
Ensembl chr16:89,226,220...89,231,854
JBrowse link
mucopolysaccharidosis IX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase | ClinVar Annotator: match by term: HYALURONIDASE DEFICIENCY OMIM
ClinVar
PMID:8793927 PMID:9536098 PMID:10339581 PMID:16199547 PMID:17576681 More... NCBI chr 3:50,228,491...50,238,798
Ensembl chr 3:51,463,239...51,467,286
JBrowse link
mucopolysaccharidosis type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chr17:74,620,152...74,636,895
Ensembl chr17:80,342,810...80,369,707
JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9536098 PMID:16465621 PMID:17576681 PMID:19617216 PMID:19938078 More... NCBI chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
JBrowse link
G IDS iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:1303211 PMID:1550586 PMID:8318991 PMID:18414213 PMID:18500569 More... NCBI chr  X:138,493,117...138,520,017
Ensembl chr  X:148,912,475...148,946,441
JBrowse link
G LOC100988043 eukaryotic initiation factor 4A-III ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:28492532 NCBI chr17:74,221,793...74,233,738 JBrowse link
G RNF213 ring finger protein 213 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:28492532 NCBI chr17:74,688,130...74,823,973
Ensembl chr17:80,421,373...80,556,570
JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A OMIM
ClinVar
PMID:5542396 PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 More... NCBI chr17:74,636,854...74,647,958
Ensembl chr17:80,371,790...80,381,703
JBrowse link
G SLC26A11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9158154 PMID:9285796 PMID:9554748 PMID:9744479 PMID:10521831 More... NCBI chr17:74,647,880...74,681,247
Ensembl chr17:80,381,942...80,414,210
JBrowse link
mucopolysaccharidosis type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COASY Coenzyme A synthase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B ClinVar PMID:28492532 NCBI chr17:14,750,246...14,754,417
Ensembl chr17:14,973,662...14,977,797
JBrowse link
G HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B ClinVar PMID:28492532 NCBI chr17:14,760,856...14,763,584
Ensembl chr17:14,986,814...14,988,820
JBrowse link
G MLX MAX dimerization protein MLX ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B ClinVar PMID:28492532 NCBI chr17:14,743,314...14,749,484
Ensembl chr17:14,967,236...14,972,875
JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B OMIM
ClinVar
PMID:8650226 PMID:9443875 PMID:9443878 PMID:9536098 PMID:9832037 More... NCBI chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
JBrowse link
G PSMC3IP PSMC3 interacting protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B ClinVar PMID:28492532 NCBI chr17:14,738,205...14,744,215
Ensembl chr17:14,961,602...14,967,639
JBrowse link
mucopolysaccharidosis type IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031
JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 More... NCBI chr 8:42,388,406...42,448,466 JBrowse link
G POMK protein O-mannose kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:17033958 PMID:19479962 PMID:28492532 NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239
JBrowse link
mucopolysaccharidosis type IIID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNS glucosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D OMIM
ClinVar
PMID:3100754 PMID:6450420 PMID:9536098 PMID:12573255 PMID:12624138 More... NCBI chr12:24,164,127...24,209,963
Ensembl chr12:24,667,603...24,712,939
JBrowse link
G MOK MOK protein kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:25741868 NCBI chr14:82,842,769...82,925,263
Ensembl chr14:102,665,543...102,741,546
JBrowse link
mucopolysaccharidosis type IVB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B OMIM
ClinVar
PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chr 3:33,024,623...33,031,877 JBrowse link
mucopolysaccharidosis VI 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 ISO protein:increased expression:intervertebral disk RGD PMID:23192728 RGD:10043113 NCBI chr21:13,352,222...13,402,165
Ensembl chr21:26,744,807...26,788,736
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 5:37,015,518...37,305,769
Ensembl chr 5:37,503,162...37,840,205
JBrowse link
G ARSB arylsulfatase B treatment
susceptibility
ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe OMIM
ClinVar
RGD
PMID:1301949 PMID:1550123 PMID:1718978 PMID:4974081 PMID:7733883 More... RGD:1599228 RGD:39131283 RGD:631738 NCBI chr 5:36,325,581...36,534,371
Ensembl chr 5:36,804,874...37,023,739
JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: Maroteaux Lamy syndrome ClinVar PMID:7573038 PMID:8089138 PMID:8644704 PMID:9490302 PMID:9921904 More... NCBI chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
JBrowse link
G LHFPL2 LHFPL tetraspan subfamily member 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 5:36,663,171...36,825,272
Ensembl chr 5:37,289,046...37,314,043
JBrowse link
G SCAMP1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 5:36,829,770...36,951,827
Ensembl chr 5:37,316,593...37,439,785
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFSF11 TNF superfamily member 11 treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr13:23,750,835...23,784,740 JBrowse link
Mucopolysaccharidosis X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSK arylsulfatase family member K ISO ClinVar Annotator: match by term: ARSK DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE K DEFICIENCY OMIM
ClinVar
PMID:25741868 PMID:34916232 NCBI chr 5:19,744,154...19,794,098
Ensembl chr 5:19,890,869...19,939,068
JBrowse link
Mucopolysaccharidosis-Plus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS33A VPS33A core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome OMIM
ClinVar
PMID:25741868 PMID:27547915 PMID:28013294 PMID:28492532 PMID:31070736 NCBI chr12:119,831,693...119,868,132
Ensembl chr12:123,201,663...123,236,019
JBrowse link
mucosulfatidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Multiple sulfatase deficiency ClinVar PMID:28492532 NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
JBrowse link
G SUMF1 sulfatase modifying factor 1 ISO OMIM:272200 MouseDO NCBI chr 3:4,314,790...4,422,503
Ensembl chr 3:4,415,726...4,523,850
JBrowse link
G SUMF2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Multiple sulfatase deficiency ClinVar PMID:12757706 NCBI chr 7:56,677,230...56,693,639 JBrowse link
Neuraminidase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I OMIM
ClinVar
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chr 6:31,522,392...31,526,097
Ensembl chr 6:32,409,217...32,412,971
JBrowse link
neuronal ceroid lipofuscinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:46,148,937...46,207,186
Ensembl chr15:64,419,994...64,477,586
JBrowse link
G ABHD16B abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,783,486...61,784,895 JBrowse link
G ABHD18 abhydrolase domain containing 18 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar NCBI chr 4:120,136,126...120,207,449
Ensembl chr 4:131,439,603...131,509,380
JBrowse link
G ADRM1 ADRM1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:58,667,601...58,673,566
Ensembl chr20:59,985,358...59,991,668
JBrowse link
G AP2A2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:945,170...1,034,860
Ensembl chr11:1,005,473...1,076,652
JBrowse link
G APBB1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,526,477...6,550,509
Ensembl chr11:6,209,812...6,225,972
JBrowse link
G ARFGAP1 ADP ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,656,731...59,674,802
Ensembl chr20:61,197,583...61,214,635
JBrowse link
G ARFIP2 ADP ribosylation factor interacting protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,608,393...6,613,245
Ensembl chr11:6,290,034...6,296,817
JBrowse link
G ARFRP1 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,622,386...61,630,949 JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:15024724 PMID:28116333 PMID:28492532 NCBI chr 8:5,381,357...5,541,094
Ensembl chr 8:1,724,413...1,862,917
JBrowse link
G ARSG arylsulfatase G ISO Lysosomal storage disease, ARSG related OMIA PMID:12951908 PMID:15058771 PMID:15365721 PMID:16916197 PMID:20429032 More... NCBI chr17:62,195,977...62,379,362
Ensembl chr17:67,588,347...67,768,454
JBrowse link
G ASCL2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,305,497...2,308,080 JBrowse link
G ATP13A2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism
Neuronal ceroid lipofuscinosis, 12
CTD
OMIA
PMID:1471473 PMID:1609844 PMID:12061538 PMID:15691038 PMID:15771740 More... NCBI chr 1:15,929,613...15,955,631
Ensembl chr 1:16,986,385...17,006,033
Ensembl chr 1:16,986,385...17,006,033
JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:29,265,516...29,290,807
Ensembl chr16:29,265,516...29,290,807
JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:29,209,115...29,226,239 JBrowse link
G BHLHE23 basic helix-loop-helix family member e23 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,385,608...59,392,078 JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932
JBrowse link
G BRSK2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,424,873...1,495,630
Ensembl chr11:1,473,129...1,521,339
JBrowse link
G C16H15orf61 chromosome 16 C15orf61 homolog ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:46,471,604...46,477,100
Ensembl chr15:64,740,039...64,746,144
JBrowse link
G C9H11orf21 chromosome 9 C11orf21 homolog ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,332,841...2,348,227
Ensembl chr11:2,361,217...2,367,568
JBrowse link
G C9H11orf42 chromosome 9 C11orf42 homolog ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,338,897...6,345,022
Ensembl chr11:6,021,069...6,027,084
JBrowse link
G CALML4 calmodulin like 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:47,140,272...47,155,700
Ensembl chr15:65,409,732...65,424,852
JBrowse link
G CAVIN3 caveolae associated protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,451,364...6,453,206
Ensembl chr11:6,133,656...6,135,485
JBrowse link
G CCKBR cholecystokinin B receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,393,435...6,405,821
Ensembl chr11:6,075,816...6,088,145
JBrowse link
G CD151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:851,726...857,651
Ensembl chr11:895,802...900,289
JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:29,320,734...29,327,481 JBrowse link
G CD81 CD81 molecule ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,400,503...2,421,132
Ensembl chr11:2,437,991...2,449,308
JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 Ensembl chr11:652,671...659,959 JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,908,537...2,911,134 JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:804,517...807,608
Ensembl chr11:849,678...850,127
JBrowse link
G CHID1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:888,660...930,901
Ensembl chr11:929,278...977,082
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:59,730,759...59,748,678
Ensembl chr20:61,270,631...61,283,005
JBrowse link
G CLCN3 chloride voltage-gated channel 3 ISO RGD PMID:12059962 RGD:734783 NCBI chr 4:161,838,061...161,943,072
Ensembl chr 4:173,925,474...174,011,681
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:7553855 PMID:9311735 PMID:9450775 PMID:9536098 PMID:9618513 More...
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
ClinVar PMID:8001159 PMID:9536098 PMID:9662406 PMID:10528251 PMID:10953198 More... NCBI chr13:58,207,542...58,220,697
Ensembl chr13:77,253,203...77,263,759
JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 More... NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2199011 PMID:9536098 PMID:10508524 PMID:10861296 PMID:11589000 More... NCBI chr 8:5,587,875...5,606,883
Ensembl chr 8:1,658,694...1,700,754
JBrowse link
G CNGA4 cyclic nucleotide gated channel subunit alpha 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,368,768...6,378,976
Ensembl chr11:6,051,091...6,061,550
JBrowse link
G COL20A1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,678,028...59,716,822
Ensembl chr20:61,219,950...61,254,432
JBrowse link
G COL9A3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,203,959...59,229,221
Ensembl chr20:60,499,089...60,521,871
JBrowse link
G CORO2B coronin 2B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:47,536,641...47,685,357
Ensembl chr15:66,370,374...66,452,545
JBrowse link
G CRACR2B calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:845,996...850,814
Ensembl chr11:889,575...894,053
JBrowse link
G CTSD cathepsin D ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:10218883 PMID:16199547 PMID:16670177 PMID:16685649 More... NCBI chr11:1,789,326...1,800,524 JBrowse link
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar NCBI chr11:61,922,361...61,927,520
Ensembl chr11:65,246,031...65,250,786
JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:652,337...709,854 JBrowse link
G DIDO1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,264,759...59,325,092
Ensembl chr20:60,556,923...60,617,265
JBrowse link
G DIS3L DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:45,246,867...45,287,521
Ensembl chr15:63,523,512...63,563,813
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9536098 PMID:17576681 PMID:19822871 PMID:23360469 PMID:24811917 More... Ensembl chr20:61,848,236...61,856,265 JBrowse link
G DNHD1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,628,568...6,703,994
Ensembl chr11:6,312,254...6,386,993
JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:640,401...646,775 JBrowse link
G DUSP8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,592,858...1,611,740 JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 More... NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,412,122...61,421,735 JBrowse link
G EIF3CL eukaryotic translation initiation factor 3 subunit C like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:720,528...741,623
Ensembl chr11:765,689...787,128
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 More... NCBI chr13:58,219,260...58,244,780
Ensembl chr13:77,266,496...77,283,651
JBrowse link
G FEM1B fem-1 homolog B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:47,236,920...47,254,878
Ensembl chr15:66,005,614...66,024,007
JBrowse link
G FHIP1B FHF complex subunit HOOK interacting protein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,345,227...6,368,675
Ensembl chr11:6,027,300...6,050,850
JBrowse link
G FNDC11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,481,269...61,482,225 JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:784,569...794,911
Ensembl chr11:833,230...839,421
JBrowse link
G GID8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,325,193...59,335,588
Ensembl chr20:60,617,762...60,627,792
JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,513,870...61,544,993 JBrowse link
G GSG1L GSG1 like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676
G GTF3C1 general transcription factor IIIC subunit 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:27,830,280...27,919,020 JBrowse link
G HELZ2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,483,623...61,498,083 JBrowse link
G HPX hemopexin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,558,279...6,572,946
Ensembl chr11:6,246,392...6,256,410
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:brain RGD PMID:21094208 RGD:5686293 NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458
JBrowse link
G IFITM10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,771,296...1,787,042 JBrowse link
G IGF2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
JBrowse link
G IL21R interleukin 21 receptor ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:27,774,864...27,821,769 JBrowse link
G IL27 interleukin 27 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676
G ILK integrin linked kinase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,735,735...6,742,922
Ensembl chr11:6,418,717...6,425,788
JBrowse link
G INS insulin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G IQCH IQ motif containing H ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:46,206,780...46,457,549
Ensembl chr15:64,477,650...64,720,706
JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 Ensembl chr11:647,827...651,314 JBrowse link
G ITGA11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:47,260,931...47,390,062
Ensembl chr15:66,031,201...66,128,985
JBrowse link
G KATNIP katanin interacting protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:27,918,816...28,148,543 JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,469,750...2,874,467 JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:22748208 PMID:25741868 PMID:25976102 PMID:27742667 PMID:28492532 More... NCBI chr 7:59,392,366...59,435,993
Ensembl chr 7:73,687,952...73,697,728
JBrowse link
G LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765
JBrowse link
G LAT linker for activation of T cells ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676
G LCTL lactase like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:45,495,650...45,514,096
Ensembl chr15:63,769,946...63,787,409
JBrowse link
G LIME1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,661,427...61,662,767 JBrowse link
G LMNTD2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:559,779...564,584
Ensembl chr11:588,816...594,794
JBrowse link
G LOC100969764 sulfotransferase 1A1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676
G LOC100985441 olfactory receptor 52N4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,889,038...5,890,166
Ensembl chr11:5,570,553...5,571,518
JBrowse link
G LOC100986112 olfactory receptor 52N1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,922,288...5,923,306 JBrowse link
G LOC100987113 olfactory receptor 56B1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,870,537...5,873,080 JBrowse link
G LOC100988141 olfactory receptor 52N5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,912,095...5,913,071
Ensembl chr11:5,593,446...5,605,731
JBrowse link
G LOC100988476 olfactory receptor 56A3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,081,296...6,082,357
Ensembl chr11:5,762,762...5,763,709
JBrowse link
G LOC100989488 olfactory receptor 56A4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,135,566...6,136,762
Ensembl chr11:5,816,864...5,817,961
JBrowse link
G LOC100990509 olfactory receptor 52B2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,303,065...6,304,472 JBrowse link
G LOC100991181 olfactory receptor 52W1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,333,027...6,334,423
Ensembl chr11:6,015,192...6,016,154
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G LSP1 lymphocyte specific protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,889,625...1,931,192
Ensembl chr11:1,921,905...1,963,192
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
JBrowse link
G MAP2K5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:46,493,139...46,760,271
Ensembl chr15:64,761,394...65,029,655
JBrowse link
G MEGF11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:44,836,750...45,208,674
Ensembl chr15:63,116,564...63,204,508
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:19201763 PMID:19277732 PMID:21990111 PMID:22668694 PMID:25333361 More... NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
JBrowse link
G MOB2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,502,429...1,573,145
Ensembl chr11:1,528,134...1,545,668
JBrowse link
G MRGBP MRG domain binding protein ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,183,842...59,187,982 JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,988,470...1,997,722
Ensembl chr11:2,018,942...2,055,546
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,191,223...1,234,373 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532
G MUC6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,035,447...1,071,791
Ensembl chr11:1,077,867...1,106,927
JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 More... NCBI chr13:58,262,251...58,544,819
Ensembl chr13:77,306,509...77,586,843
JBrowse link
G NFATC2IP nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676
G NKAIN4 sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,623,891...59,637,916
Ensembl chr20:61,162,915...61,171,567
JBrowse link
G NTSR1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,100,110...59,151,563
Ensembl chr20:60,392,736...60,446,056
JBrowse link
G NUPR1 nuclear protein 1, transcriptional regulator ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:29,015,155...29,016,987 JBrowse link
G OGFR opioid growth factor receptor ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,191,791...59,201,149
Ensembl chr20:60,488,962...60,495,228
JBrowse link
G PHRF1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:579,487...608,251
Ensembl chr11:616,738...647,496
JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105
JBrowse link
G PIDD1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:816,629...827,295
Ensembl chr11:860,899...867,436
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:838,339...844,035
Ensembl chr11:881,934...886,896
JBrowse link
G POLR2L RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:859,015...861,382 JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,446,522...61,447,653 JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:2538469 PMID:7637805 PMID:9425237 PMID:9571187 PMID:9664077 More... NCBI chr 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609
JBrowse link
G PPT2 palmitoyl-protein thioesterase 2 ISO RGD
MouseDO
PMID:11717424 RGD:734785 NCBI chr 6:31,800,096...31,811,047
Ensembl chr 6:32,680,175...32,695,549
JBrowse link
G PRPF6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,899,076...61,948,088 JBrowse link
G PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,453,386...61,462,951 JBrowse link
G RAB11A RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077
JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:29,289,949...29,314,177 JBrowse link
G RASSF7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:561,525...569,852
Ensembl chr11:596,433...598,823
JBrowse link
G RBBP8NL RBBP8 N-terminal like ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:58,794,817...58,812,530
Ensembl chr20:60,095,450...60,112,408
JBrowse link
G RPL4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:45,446,582...45,452,173
Ensembl chr15:63,721,912...63,727,477
JBrowse link
G RPLP2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:827,500...830,490
Ensembl chr11:870,709...874,253
JBrowse link
G RPS21 ribosomal protein S21 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:58,749,013...58,750,899
Ensembl chr20:60,072,483...60,073,962
JBrowse link
G RRP8 ribosomal RNA processing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,630,695...6,735,711
Ensembl chr11:6,415,003...6,418,414
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,581,331...61,618,718 JBrowse link
G SBK1 SH3 domain binding kinase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676
G SCEL sciellin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 More... NCBI chr13:58,772,893...58,861,813
Ensembl chr13:77,795,230...77,904,016
JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:632,073...634,296 JBrowse link
G SGF29 SAGA complex associated factor 29 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:29,030,587...29,068,795 JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:29,249,597...29,263,334 JBrowse link
G SKOR1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:46,722,712...46,787,689 JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:8001159 PMID:10528251 PMID:20127975 PMID:20157158 PMID:22589734 More... NCBI chr13:58,914,327...58,981,193 JBrowse link
G SLC17A9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,339,779...59,356,396
Ensembl chr20:60,631,969...60,647,278
JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:807,886...815,770
Ensembl chr11:851,998...858,121
JBrowse link
G SLC2A4RG SLC2A4 regulator ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More...
G SLCO4A1 solute carrier organic anion transporter family member 4A1 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,030,815...59,076,132
Ensembl chr20:60,339,319...60,355,374
JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:45,648,709...45,728,821
Ensembl chr15:63,923,379...64,001,154
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,521,812...6,526,349 JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:45,440,597...45,446,007
Ensembl chr15:63,712,363...63,720,420
JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:12946273 RGD:1581253 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SPNS1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,465,539...61,473,057 JBrowse link
G STMN3 stathmin 3 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More...
G SULT1A2 sulfotransferase family 1A member 2 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:29,068,659...29,077,360 JBrowse link
G SYT8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,867,572...1,874,115
Ensembl chr11:1,902,554...1,910,084
JBrowse link
G TAF10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,742,862...6,744,260 JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:764,864...782,548
Ensembl chr11:809,751...826,744
JBrowse link
G TCFL5 transcription factor like 5 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,229,243...59,250,033 JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
JBrowse link
G TIMM10B translocase of inner mitochondrial membrane 10B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,613,341...6,616,543
Ensembl chr11:6,296,796...6,300,009
JBrowse link
G TIPIN TIMELESS interacting protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:45,290,350...45,310,335
Ensembl chr15:63,566,463...63,585,717
JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:709,907...719,140
Ensembl chr11:754,169...763,695
JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,874,633...1,878,343
Ensembl chr11:1,902,554...1,910,084
JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:1,936,614...1,955,784
Ensembl chr11:1,968,184...1,987,849
JBrowse link
G TOLLIP toll interacting protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532
G TPD52L2 TPD52 like 2 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,787,310...61,808,876 JBrowse link
G TPP1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 More... NCBI chr11:6,744,815...6,751,556
Ensembl chr11:6,427,522...6,434,222
JBrowse link
G TRIM22 tripartite motif containing 22 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:5,824,176...5,844,990
Ensembl chr11:5,504,864...5,526,730
JBrowse link
G TRIM3 tripartite motif containing 3 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:6,580,491...6,605,854
Ensembl chr11:6,264,376...6,281,033
JBrowse link
G TRPM5 transient receptor potential cation channel subfamily M member 5 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,428,185...2,448,070
Ensembl chr11:2,456,831...2,475,989
JBrowse link
G TSPAN32 tetraspanin 32 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,339,941...2,357,049
Ensembl chr11:2,367,674...2,384,209
JBrowse link
G TSPAN4 tetraspanin 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:861,598...885,957
Ensembl chr11:905,157...928,480
JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr11:2,424,217...2,427,602
Ensembl chr11:2,452,388...2,455,772
JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:29,227,852...29,233,513 JBrowse link
G XPO6 exportin 6 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:9311735 PMID:28492532 PMID:28542676 Ensembl chr16:28,462,546...28,579,109 JBrowse link
G YTHDF1 YTH N6-methyladenosine RNA binding protein F1 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:59,575,703...59,596,447
Ensembl chr20:61,116,645...61,135,769
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,667,319...61,713,895 JBrowse link
G ZGPAT zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... Ensembl chr20:61,630,271...61,662,967 JBrowse link
G ZNF512B zinc finger protein 512B ISO ClinVar Annotator: match by term: Ceroid storage disease ClinVar PMID:25921748 PMID:28492532 PMID:30866059 Ensembl chr20:61,879,322...61,885,634 JBrowse link
G ZWILCH zwilch kinetochore protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis ClinVar PMID:28492532 NCBI chr15:45,452,382...45,496,780
Ensembl chr15:63,727,562...63,771,213
JBrowse link
neuronal ceroid lipofuscinosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 ClinVar PMID:28492532 PMID:29503925 NCBI chr 8:5,587,875...5,606,883
Ensembl chr 8:1,658,694...1,700,754
JBrowse link
G FIS1 fission, mitochondrial 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683
JBrowse link
G GFAP glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr17:12,407,211...12,417,072
Ensembl chr17:12,579,754...12,591,961
JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 ClinVar PMID:28492532 NCBI chr 7:59,392,366...59,435,993
Ensembl chr 7:73,687,952...73,697,728
JBrowse link
G MFN1 mitofusin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 3:176,378,175...176,423,943
Ensembl chr 3:184,552,108...184,596,763
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 | ClinVar Annotator: match by term: PPT1-related condition OMIM
ClinVar
PMID:2538469 PMID:7637805 PMID:9425237 PMID:9536098 PMID:9571187 More... NCBI chr 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609
JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G SYP synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr  X:41,487,538...41,500,039
Ensembl chr  X:49,340,021...49,352,420
JBrowse link
G TFAM transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224254 NCBI chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972
JBrowse link
neuronal ceroid lipofuscinosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSD cathepsin D ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10 OMIM
ClinVar
PMID:10218883 PMID:16670177 PMID:16685649 PMID:24767253 PMID:25298308 More... NCBI chr11:1,789,326...1,800,524 JBrowse link
neuronal ceroid lipofuscinosis 11 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: Neuronal ceroid lipofuscinosis 11 OMIM
ClinVar
PMID:16862116 PMID:16950801 PMID:17698705 PMID:18192287 PMID:18234697 More... NCBI chr17:13,046,329...13,054,236
Ensembl chr17:13,211,784...13,219,609
JBrowse link
neuronal ceroid lipofuscinosis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17828264 PMID:23297359 More... NCBI chr11:61,922,361...61,927,520
Ensembl chr11:65,246,031...65,250,786
JBrowse link
neuronal ceroid lipofuscinosis 2 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: Late-infantile neuronal ceroid lipofuscinosis
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
ClinVar PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 More... NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
JBrowse link
G TPP1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
OMIM
ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10356316 More... NCBI chr11:6,744,815...6,751,556
Ensembl chr11:6,427,522...6,434,222
JBrowse link
neuronal ceroid lipofuscinosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN3 chloride voltage-gated channel 3 ISO OMIM:204200 MouseDO NCBI chr 4:161,838,061...161,943,072
Ensembl chr 4:173,925,474...174,011,681
JBrowse link
G CLCN6 chloride voltage-gated channel 6 ISO OMIM:204200 MouseDO NCBI chr 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease OMIM
ClinVar
PMID:7553855 PMID:7887420 PMID:9004140 PMID:9311735 PMID:9392580 More...
G LOC117978823 battenin ISO OMIM:204200 MouseDO
G PPT1 palmitoyl-protein thioesterase 1 ISO OMIM:204200 MouseDO NCBI chr 1:39,358,424...39,383,087
Ensembl chr 1:40,683,841...40,708,609
JBrowse link
neuronal ceroid lipofuscinosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Kufs disease autosomal dominant | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B OMIM
ClinVar
PMID:11489285 PMID:12112194 PMID:21820099 PMID:22073189 PMID:22235333 More... Ensembl chr20:61,848,236...61,856,265 JBrowse link
neuronal ceroid lipofuscinosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 OMIM
ClinVar
PMID:9536098 PMID:9662406 PMID:10953198 PMID:11971870 PMID:12134079 More... NCBI chr13:58,207,542...58,220,697
Ensembl chr13:77,253,203...77,263,759
JBrowse link
neuronal ceroid lipofuscinosis 6A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 OMIM
ClinVar
PMID:9536098 PMID:11727201 PMID:11791207 PMID:12673792 PMID:12815591 More... NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A ClinVar PMID:12369017 PMID:15221801 PMID:15234149 PMID:15241805 PMID:19405096 More... NCBI chr11:6,521,812...6,526,349 JBrowse link
G STX6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr 1:156,450,202...156,500,143
Ensembl chr 1:160,117,825...160,167,314
JBrowse link
G SYP synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23516525 NCBI chr  X:41,487,538...41,500,039
Ensembl chr  X:49,340,021...49,352,420
JBrowse link
neuronal ceroid lipofuscinosis 6B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4A autosomal recessive | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A OMIM
ClinVar
PMID:3284607 PMID:12673792 PMID:12815591 PMID:14997940 PMID:18846690 More... NCBI chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242
JBrowse link
neuronal ceroid lipofuscinosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD18 abhydrolase domain containing 18 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:120,136,126...120,207,449
Ensembl chr 4:131,439,603...131,509,380
JBrowse link
G HSPA4L heat shock protein family A (Hsp70) member 4 like ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:119,946,233...120,004,602
Ensembl chr 4:131,251,354...131,303,499
JBrowse link
G INTU inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:119,793,245...119,890,949
Ensembl chr 4:131,109,733...131,186,590
JBrowse link
G LARP1B La ribonucleoprotein 1B ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:120,230,897...120,383,530
Ensembl chr 4:131,533,028...131,678,775
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 OMIM
ClinVar
PMID:9177532 PMID:9536098 PMID:15074367 PMID:16199547 PMID:17564970 More... NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
JBrowse link
G PLK4 polo like kinase 4 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054
JBrowse link
G SLC25A31 solute carrier family 25 member 31 ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 ClinVar PMID:19177532 PMID:28492532 NCBI chr 4:119,894,274...119,938,168
Ensembl chr 4:131,200,402...131,243,952
JBrowse link
neuronal ceroid lipofuscinosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 OMIM
ClinVar
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 More... NCBI chr 8:5,587,875...5,606,883
Ensembl chr 8:1,658,694...1,700,754
JBrowse link
neuronal ceroid lipofuscinosis 8 northern epilepsy variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN8 CLN8 transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant OMIM
ClinVar
PMID:10508524 PMID:10861296 PMID:11589000 PMID:15024724 PMID:15074367 More... NCBI chr 8:5,587,875...5,606,883
Ensembl chr 8:1,658,694...1,700,754
JBrowse link
Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:35460704 NCBI chr11:838,339...844,035
Ensembl chr11:881,934...886,896
JBrowse link
Niemann-Pick disease 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 protein:increased expression:cerebellum: RGD PMID:20883783 RGD:8693571 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO MouseDO NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO DNA:mutation:multiple RGD
MouseDO
PMID:11567215 RGD:1601483 NCBI chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 susceptibility ISO Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple
ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease
RGD
ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12556236 PMID:15221801 More... RGD:1601336 NCBI chr11:6,521,812...6,526,349 JBrowse link
Niemann-Pick disease type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBB1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:15221801 PMID:17011332 More... NCBI chr11:6,526,477...6,550,509
Ensembl chr11:6,209,812...6,225,972
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 disease_progression ISO protein:decreased expression:cerebellum (mouse) RGD PMID:16277603 RGD:6482797 NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis OMIM
ClinVar
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr11:6,521,812...6,526,349 JBrowse link
Niemann-Pick disease type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBB1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:15221801 PMID:17011332 More... NCBI chr11:6,526,477...6,550,509
Ensembl chr11:6,209,812...6,225,972
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type B ClinVar PMID:25741868 PMID:28492532 PMID:29485843 NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis OMIM
ClinVar
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr11:6,521,812...6,526,349 JBrowse link
Niemann-Pick disease type C1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD3 abhydrolase domain containing 3, phospholipase ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:14,888,915...14,944,295
Ensembl chr18:18,527,364...18,578,736
JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:18591368 RGD:10047095 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
JBrowse link
G ACYP1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 More... NCBI chr14:55,604,853...55,621,133 JBrowse link
G ANKRD29 ankyrin repeat domain 29 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:16,850,341...16,914,767
Ensembl chr18:20,475,728...20,539,300
JBrowse link
G CABLES1 Cdk5 and Abl enzyme substrate 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:16,384,305...16,508,915 JBrowse link
G CTAGE1 cutaneous T cell lymphoma-associated antigen 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:15,656,824...15,659,668 JBrowse link
G ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:14,767,377...14,839,978 JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:15,411,764...15,444,402 JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:14,482,493...14,763,789
Ensembl chr18:18,244,575...18,400,335
JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
JBrowse link
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:16,941,316...17,208,363
Ensembl chr18:20,565,649...20,831,957
JBrowse link
G LIPA lipase A, lysosomal acid type ISO CTD Direct Evidence: therapeutic CTD PMID:20557099 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:14,944,432...15,113,313
Ensembl chr18:18,641,135...18,740,813
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form OMIM
ClinVar
PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 More... NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:11125141 PMID:11333381 PMID:11567215 PMID:12955717 PMID:15465422 More... NCBI chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628
JBrowse link
G RBBP8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:16,181,652...16,274,597
Ensembl chr18:19,811,989...19,903,522
JBrowse link
G RIOK3 RIO kinase 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:16,703,893...16,734,160
Ensembl chr18:20,331,222...20,360,825
JBrowse link
G RMC1 regulator of MON1-CCZ1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:16,754,469...16,783,381
Ensembl chr18:20,380,579...20,409,314
JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chr11:6,521,812...6,526,349 JBrowse link
G SNRPD1 small nuclear ribonucleoprotein D1 polypeptide ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:14,851,041...14,869,042
Ensembl chr18:18,488,929...18,506,284
JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G SYNDIG1L synapse differentiation inducing 1 like ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar NCBI chr14:54,957,901...54,978,582
Ensembl chr14:73,805,990...73,826,055
JBrowse link
G TMEM241 transmembrane protein 241 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:16,464,723...16,689,144
Ensembl chr18:20,173,513...20,316,638
JBrowse link
Niemann-Pick disease type C2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACYP1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 More... NCBI chr14:55,604,853...55,621,133 JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:25741868 NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 OMIM
ClinVar
PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 More... NCBI chr14:55,033,129...55,046,564
Ensembl chr14:73,875,889...73,894,628
JBrowse link
Niemann-Pick Disease Type D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type D ClinVar
OMIM
PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 More... NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
JBrowse link
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral ClinVar PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 More... NCBI chr11:6,521,812...6,526,349 JBrowse link
non-alcoholic fatty liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:serum: RGD PMID:27639593 RGD:14995335 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CREB1 cAMP responsive element binding protein 1 treatment ISO RGD PMID:28770225 RGD:401940144 NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
JBrowse link
G GGT1 gamma-glutamyltransferase 1 ISO protein:increased expression:serum: RGD PMID:23730648 RGD:14747013 NCBI chr22:5,424,334...5,469,705 JBrowse link
G GPT glutamic--pyruvic transaminase ISO protein:increased expression:liver,serum RGD PMID:18710424 RGD:14975250 Ensembl chr 8:144,259,991...144,263,737 JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO protein:increased expression:liver,serum RGD PMID:18710424 RGD:14975250 NCBI chr16:27,150,159...27,197,006
Ensembl chr16:46,040,439...46,086,840
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO associated with morbid obesity;mRNA:decreased expression:liver RGD PMID:33081272 RGD:401900305 NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO associated with morbid obesity;mRNA:decreased expression:liver RGD PMID:33081272 RGD:401900305 NCBI chr2B:118,362,719...118,381,253
Ensembl chr2B:237,153,709...237,170,591
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 severity
susceptibility
ISO RGD PMID:29861476 PMID:31064654 RGD:14985251 RGD:14985252 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
JBrowse link
G NGF nerve growth factor ISO protein:increased expression:plasma RGD PMID:22434756 RGD:401976546 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 severity ISO cholic acid fed FXR-/- mouse RGD PMID:12971955 RGD:15045573 NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
JBrowse link
Phospholipidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR2B Fc gamma receptor IIb ISO mRNA:increased expression:heart, blood RGD PMID:25580480 RGD:11344961 NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637
JBrowse link
Pseudoarylsulfatase A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency ClinVar PMID:8101038 PMID:15326627 PMID:15720392 PMID:24001781 PMID:25741868 More... NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099
JBrowse link
pycnodysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSK cathepsin K ISO ClinVar Annotator: match by term: Pyknodysostosis OMIM
ClinVar
PMID:7663522 PMID:8703060 PMID:8938428 PMID:9529353 PMID:10074491 More... NCBI chr 1:126,146,555...126,158,662
Ensembl chr 1:129,795,966...129,808,316
JBrowse link
G IGF1 insulin like growth factor 1 ISO associated with Dwarfism; RGD PMID:11474477 RGD:8548826 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
Retinal Dystrophy and Microvillus Inclusion Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STX3 syntaxin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease OMIM
ClinVar
NCBI chr11:54,976,575...55,027,638
Ensembl chr11:58,426,894...58,476,417
JBrowse link
Reye syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin treatment ISO RGD PMID:25162205 RGD:14694843 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G LOC100971374 thioredoxin-interacting protein ISO MouseDO NCBI chr 1:90,007,878...90,012,055 JBrowse link
Sandhoff disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKDD1B ankyrin repeat and death domain containing 1B ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 5:39,631,584...39,689,888
Ensembl chr 5:40,246,540...40,300,787
JBrowse link
G ANKRD31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 5:40,060,599...40,236,468
Ensembl chr 5:40,673,567...40,849,519
JBrowse link
G CERT1 ceramide transporter 1 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 5:39,788,858...39,927,626
Ensembl chr 5:40,400,900...40,539,921
JBrowse link
G FAM169A family with sequence similarity 169 member A ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 5:40,440,291...40,533,018
Ensembl chr 5:41,053,754...41,143,534
JBrowse link
G GCNT4 glucosaminyl (N-acetyl) transferase 4 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 5:40,249,346...40,279,559 JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:7550345 PMID:18758829 PMID:28492532 NCBI chr 5:40,543,368...40,589,478
Ensembl chr 5:41,153,714...41,204,297
JBrowse link
G HEXB hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease OMIM
ClinVar
PMID:10724 PMID:571983 PMID:868875 PMID:1386607 PMID:1390948 More... NCBI chr 5:40,589,448...40,625,176
Ensembl chr 5:41,199,681...41,232,693
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785
JBrowse link
G NSA2 NSA2 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 5:40,533,839...40,543,510
Ensembl chr 5:41,144,290...41,154,117
JBrowse link
G POC5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 5:39,587,659...39,631,472
Ensembl chr 5:40,205,697...40,244,182
JBrowse link
G POLK DNA polymerase kappa ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 5:39,700,659...39,788,727
Ensembl chr 5:40,311,526...40,401,003
JBrowse link
Sandhoff Disease, Adult Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEXB hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, adult type ClinVar PMID:571983 PMID:1386607 PMID:1531140 PMID:2147027 PMID:2948136 More... NCBI chr 5:40,589,448...40,625,176
Ensembl chr 5:41,199,681...41,232,693
JBrowse link
Sandhoff Disease, Infantile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENC1 ectodermal-neural cortex 1 ISO ClinVar Annotator: match by term: Sandhoff disease, infantile type ClinVar PMID:7633435 NCBI chr 5:40,668,899...40,682,887
Ensembl chr 5:41,281,115...41,282,884
JBrowse link
G HEXB hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, infantile type ClinVar PMID:7550345 PMID:7633435 PMID:8045559 PMID:8162015 PMID:9888387 More... NCBI chr 5:40,589,448...40,625,176
Ensembl chr 5:41,199,681...41,232,693
JBrowse link
Sandhoff Disease, Juvenile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEXB hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, juvenile type ClinVar PMID:10724 PMID:1386607 PMID:1531140 PMID:1720305 PMID:2147027 More... NCBI chr 5:40,589,448...40,625,176
Ensembl chr 5:41,199,681...41,232,693
JBrowse link
Scheie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome OMIM
ClinVar
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome ClinVar PMID:1301941 PMID:1505961 PMID:7550242 PMID:7951228 PMID:8401515 More... NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
JBrowse link
Schindler disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency ClinVar PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2889023 More... NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
JBrowse link
Schindler disease type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 OMIM
ClinVar
PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2889023 More... NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
JBrowse link
G WBP2NL WBP2 N-terminal like ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 ClinVar NCBI chr22:22,891,166...22,926,920
Ensembl chr22:40,974,715...41,004,007
JBrowse link
Schindler disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 3 ClinVar PMID:2372288 PMID:8071745 PMID:8782044 PMID:11251574 PMID:11313741 More... NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
JBrowse link
sea-blue histiocytosis 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: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis ClinVar
OMIM
PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 More... NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
sialuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CGAS cyclic GMP-AMP synthase ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chr 6:71,252,050...71,279,121
Ensembl chr 6:74,544,251...74,566,965
JBrowse link
G DDX43 DEAD-box helicase 43 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chr 6:71,220,471...71,244,509
Ensembl chr 6:74,511,523...74,534,350
JBrowse link
G DPPA5 developmental pluripotency associated 5 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chr 6:71,179,154...71,181,220
Ensembl chr 6:74,468,084...74,469,296
JBrowse link
G EEF1A1 eukaryotic translation elongation factor 1 alpha 1 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chr 6:71,342,291...71,346,033
Ensembl chr 6:74,629,688...74,633,754
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria
ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria
ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type
OMIM
ClinVar
PMID:2443758 PMID:2808337 PMID:8439453 PMID:9536098 PMID:10330343 More... NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588
JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chr 6:70,448,161...71,025,173
Ensembl chr 6:73,742,191...74,312,344
JBrowse link
G KHDC1 KH domain containing 1 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chr 6:71,067,706...71,136,280
Ensembl chr 6:74,358,175...74,424,562
JBrowse link
G KHDC1L KH domain containing 1 like ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chr 6:71,049,965...71,089,548
Ensembl chr 6:74,340,775...74,342,371
JBrowse link
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chr 6:71,089,817...71,190,700
Ensembl chr 6:74,478,303...74,479,826
JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chr 6:71,282,988...71,325,075
Ensembl chr 6:74,570,890...74,612,567
JBrowse link
G OOEP oocyte expressed protein ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chr 6:71,195,619...71,197,040
Ensembl chr 6:74,484,764...74,511,331
JBrowse link
G RIMS1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Salla disease ClinVar PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532 NCBI chr 6:69,714,807...70,231,260
Ensembl chr 6:73,008,176...73,523,422
JBrowse link
G SLC17A5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type
ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type
ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic acid storage disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type
OMIM
ClinVar
PMID:2010546 PMID:2334213 PMID:9536098 PMID:10069709 PMID:10546100 More... NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
JBrowse link
Siddiqi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FITM2 fat storage inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar
PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr20:40,633,898...40,642,300
Ensembl chr20:41,730,346...41,735,389
JBrowse link
Sjogren-Larsson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 ISO ClinVar Annotator: match by term: Sjögren-Larsson syndrome OMIM
ClinVar
PMID:8528251 PMID:9204959 PMID:9250352 PMID:9254849 PMID:9467812 More... NCBI chr17:31,455,386...31,482,985
Ensembl chr17:36,599,835...36,628,102
JBrowse link
G LOC100975309 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Sjögren-Larsson syndrome ClinVar PMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 More... NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
JBrowse link
Sly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASL argininosuccinate lyase ISO ClinVar Annotator: match by term: Sly syndrome ClinVar PMID:19224584 PMID:28492532 NCBI chr 7:59,908,648...59,948,822
Ensembl chr 7:73,142,842...73,157,472
Ensembl chr 7:73,142,842...73,157,472
Ensembl chr 7:73,142,842...73,157,472
JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: MPS VII | ClinVar Annotator: match by term: Mucopolysaccharidosis type VII | ClinVar Annotator: match by term: Sly syndrome OMIM
ClinVar
PMID:144057 PMID:1702266 PMID:1779626 PMID:1833732 PMID:1992472 More... NCBI chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
JBrowse link
sphingolipidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 susceptibility ISO RGD PMID:11241842 RGD:734977 NCBI chr 8:17,272,632...17,300,902 JBrowse link
G SUMF1 sulfatase modifying factor 1 ISO Multiple Sulfatase Deficiency Disease RGD PMID:12757705 RGD:1599192 NCBI chr 3:4,314,790...4,422,503
Ensembl chr 3:4,415,726...4,523,850
JBrowse link
steatotic liver disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 treatment ISO associated with adult growth hormone deficiency RGD PMID:15995177 PMID:26362727 PMID:30130150 RGD:1598534 RGD:18936993 RGD:21408552 NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO RGD PMID:16139386 RGD:1598602 NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO mRNA, protein:increased expression:liver RGD PMID:17640958 RGD:2301064 Ensembl chr17:49,603,268...49,659,318 JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO RGD PMID:16485039 RGD:1625727 NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
JBrowse link
G ACACB acetyl-CoA carboxylase beta ISO RGD PMID:16485039 RGD:1625727 NCBI chr12:106,692,668...106,845,490
Ensembl chr12:110,086,374...110,239,847
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 treatment ISO RGD PMID:27813192 RGD:401842386 NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
JBrowse link
G ACOX1 acyl-CoA oxidase 1 treatment ISO RGD PMID:30298849 RGD:401960083 NCBI chr17:69,890,817...69,928,342
Ensembl chr17:75,445,923...75,479,571
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:plasma
associated with hepatitis C;protein:increased expression:serum
RGD PMID:16115302 PMID:17006986 PMID:20714777 RGD:1599139 RGD:5686674 RGD:5686883 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G ADIPOR2 adiponectin receptor 2 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19076162 PMID:30225267 RGD:21406435 RGD:2307264 NCBI chr12:1,772,426...1,902,070
Ensembl chr12:1,817,620...1,852,251
JBrowse link
G ADK adenosine kinase ISO OMIM:228100 MouseDO NCBI chr10:70,672,967...71,236,950
Ensembl chr10:73,342,900...73,902,490
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO RGD PMID:11718682 RGD:1559320 NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated ISO associated with obesity RGD PMID:16197789 RGD:1601177 NCBI chr 1:20,702,509...20,772,301
Ensembl chr 1:21,667,732...21,736,688
JBrowse link
G ANGPTL4 angiopoietin like 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15837923 PMID:28842503 RGD:1625354 NCBI chr19:7,649,429...7,660,154
Ensembl chr19:8,499,858...8,510,148
JBrowse link
G APOA1 apolipoprotein A1 treatment ISO RGD PMID:30231880 RGD:25671436 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
CTD
RGD
PMID:12048068 PMID:17203948 PMID:17303181 RGD:2325770 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:29459263 PMID:32853627 RGD:13703129 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G ATF4 activating transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr22:20,426,743...20,428,892
Ensembl chr22:38,248,094...38,249,249
JBrowse link
G ATF6 activating transcription factor 6 treatment ISO RGD PMID:27813192 RGD:401842386 NCBI chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725
JBrowse link
G ATP5IF1 ATP synthase inhibitory factor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 1:27,495,250...27,497,255
Ensembl chr 1:28,532,091...28,542,607
JBrowse link
G ATP7B ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
JBrowse link
G CA3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 8:81,965,041...81,976,133 JBrowse link
G CAT catalase ISO protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10860543 PMID:21452373 RGD:5130871 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22983634 PMID:29684222 RGD:8548844 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:liver RGD PMID:28011329 RGD:14995306 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CD163 CD163 molecule ISO associated with hepatitis B;protein:increased expression:blood serum (human) RGD PMID:26339412 RGD:11251207 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:19788606 RGD:6893500 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr20:46,533,163...46,535,282 JBrowse link
G CNDP2 carnosine dipeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr18:67,882,189...67,907,094
Ensembl chr18:71,162,331...71,188,879
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787813 NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO protein:increased expression:liver (rat) RGD PMID:20347174 RGD:4144089 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO RGD PMID:14614508 RGD:734818 NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
JBrowse link
G CTSB cathepsin B ISO mRNA, protein:increased expression, increased activity:liver, cytosol (rat) RGD PMID:18452148 RGD:2315513 NCBI chr 8:7,333,498...7,359,264 JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO mRNA,protein:increased expression:liver,serum RGD PMID:25048951 RGD:27095890 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348005 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11929713 NCBI chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO mRNA:increased expression:liver (mouse) RGD PMID:31175967 RGD:25671414 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:polymorphism:5' utr:reduced frequency of homozygotic C1 RFLP (PstI+, RsaI-) and increased frequency of C2 RFLP (PstI-,RsaI+) in Chinese patients
CTD Direct Evidence: marker/mechanism
protein:increased expression:liver
RGD
CTD
PMID:14606109 PMID:18952117 PMID:19404342 RGD:1626302 RGD:4892244 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23391614 NCBI chr 8:61,135,307...61,335,838
Ensembl chr 8:62,806,637...63,006,386
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 treatment ISO RGD PMID:17526931 RGD:10400884 NCBI chr11:70,824,791...70,857,530
Ensembl chr11:74,126,169...74,158,854
JBrowse link
G DHRS7 dehydrogenase/reductase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr14:40,750,407...40,771,106
Ensembl chr14:59,014,182...59,034,877
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 treatment ISO RGD PMID:27813192 RGD:401842386 NCBI chr2A:87,688,732...87,759,580
Ensembl chr2A:89,596,833...89,667,468
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 treatment ISO RGD PMID:27813192 RGD:401842386 NCBI chr17:58,132,889...58,224,012
Ensembl chr17:63,226,949...63,317,825
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G F2R coagulation factor II thrombin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 PMID:22841818 NCBI chr 5:38,462,521...38,478,882
Ensembl chr 5:39,110,170...39,129,688
Ensembl chr 5:39,110,170...39,129,688
JBrowse link
G FABP1 fatty acid binding protein 1 ISO Western diet-induced hepatic steatosis; DNA:mutation::Fabp1 knockout mice RGD PMID:17058218 RGD:1626440 NCBI chr2A:87,256,032...87,303,505
Ensembl chr2A:89,165,315...89,170,448
JBrowse link
G FGF21 fibroblast growth factor 21 severity ISO CTD Direct Evidence: therapeutic CTD
RGD
PMID:24184811 PMID:32195457 RGD:25330354 NCBI chr19:45,755,466...45,758,472 JBrowse link
G FGFR1 fibroblast growth factor receptor 1 severity ISO RGD PMID:32195457 RGD:25330354 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
JBrowse link
G FIS1 fission, mitochondrial 1 ISO protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683
JBrowse link
G FOXA1 forkhead box A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr14:18,347,284...18,352,705 JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 ISO mRNA:increased expression:liver (rat) RGD PMID:29534506 RGD:14695544 NCBI chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674
JBrowse link
G GCK glucokinase ISO associated with Hyperglycemia RGD PMID:22925001 RGD:7488945 NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
JBrowse link
G GGT1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:19670414 RGD:14747016 NCBI chr22:5,424,334...5,469,705 JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172
JBrowse link
G GPT glutamic--pyruvic transaminase ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19481104 PMID:30185098 RGD:14975167 Ensembl chr 8:144,259,991...144,263,737 JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 ISO mRNA:increased expression:liver RGD PMID:15122758 RGD:14975241 NCBI chr16:27,150,159...27,197,006
Ensembl chr16:46,040,439...46,086,840
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10860543 PMID:30298849 RGD:401960083 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GPX4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26042203 NCBI chr19:20,904...23,828 JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015 RGD PMID:7846063 RGD:1599882 NCBI chr2A:26,185,938...26,240,229
Ensembl chr2A:26,279,995...26,334,068
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17116638 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
JBrowse link
G HAS3 hyaluronan synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27042213 NCBI chr16:49,476,561...49,488,820
Ensembl chr16:68,868,416...68,877,476
JBrowse link
G HFE homeostatic iron regulator no_association ISO Non-alcoholic steatohepatitis (NASH) RGD PMID:12105842 RGD:1601460 NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
JBrowse link
G HHEX hematopoietically expressed homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr10:89,433,402...89,439,137
Ensembl chr10:92,947,373...92,952,992
JBrowse link
G HM13 histocompatibility minor 13 ISO associated with hepatitis RGD PMID:27142248 RGD:40924634 NCBI chr20:27,803,597...27,859,384
Ensembl chr20:28,441,285...28,501,001
JBrowse link
G HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 ISO ClinVar Annotator: match by term: HSD17B13 POLYMORPHISM ClinVar PMID:29562163 PMID:34930143 NCBI chr 4:79,606,163...79,625,401
Ensembl chr 4:90,333,816...90,351,346
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 treatment ISO associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: RGD PMID:23647685 PMID:27813192 RGD:11354957 RGD:401842386 NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO associated with morbid obesity;mRNA:decreased expression:liver RGD PMID:33081272 RGD:401900305 NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
JBrowse link
G HTR2B 5-hydroxytryptamine receptor 2B ISO associated with morbid obesity;mRNA:decreased expression:liver RGD PMID:33081272 RGD:401900305 NCBI chr2B:118,362,719...118,381,253
Ensembl chr2B:237,153,709...237,170,591
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO OMIM:228100 MouseDO NCBI chr  X:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092
JBrowse link
G IL10 interleukin 10 ISO associated with Diabetes Mellitus RGD PMID:18267346 RGD:2308948 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 ISO RGD PMID:18802068 RGD:4145478 NCBI chr  X:104,092,993...104,146,062
Ensembl chr  X:114,597,077...114,635,253
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:19084941 RGD:4889416 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:serum RGD PMID:17436085 RGD:1626661 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL6 interleukin 6 ISO associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse)
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat)
RGD PMID:19076162 PMID:19205029 RGD:2307258 RGD:2307264 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
CTD
RGD
PMID:9048448 PMID:18713300 RGD:2311137 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G INSIG1 insulin induced gene 1 severity ISO associated with Obesity
associated with Obesity;mRNA:increased expression:liver
RGD PMID:15096598 RGD:2308857 NCBI chr 7:146,893,730...146,906,329
Ensembl chr 7:158,619,531...158,632,012
JBrowse link
G INSIG2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr2B:5,046,971...5,068,757
Ensembl chr2B:118,632,402...118,652,647
JBrowse link
G INSR insulin receptor treatment ISO protein:decreased phosphorylation: liver (rat)
associated with obesity;human gene in mouse model
RGD PMID:22546076 PMID:25160038 PMID:30642871 RGD:14700926 RGD:14700935 RGD:14701028 NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:22275361 RGD:6483019 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO RGD PMID:22367278 RGD:6893372 NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
JBrowse link
G LDLR low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism
OMIM:228100
RGD
CTD
MouseDO
PMID:25554529 PMID:29459263 PMID:36108984 RGD:13703129 NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
JBrowse link
G LEP leptin severity ISO associated with morbid obesity;protein:decreased exprssion:serum (human)
CTD Direct Evidence: marker/mechanism
OMIM:228100
RGD
CTD
MouseDO
PMID:12661780 PMID:19716478 PMID:24525044 PMID:25554529 PMID:27071101 More... RGD:21201250 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25367288 PMID:29743445 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G LGALS3 galectin 3 ISO OMIM:228100 MouseDO NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412
JBrowse link
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:7736406 PMID:31299271 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
JBrowse link
G LOC100972383 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 1:111,776,428...111,803,827
Ensembl chr 1:111,015,365...111,031,944
JBrowse link
G LOC100986481 cytochrome c ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549
JBrowse link
G LRP6 LDL receptor related protein 6 ISO OMIM:228100 MouseDO NCBI chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973
JBrowse link
G MAP3K8 mitogen-activated protein kinase kinase kinase 8 ameliorates ISO RGD PMID:26560698 RGD:11342977 NCBI chr10:30,579,220...30,607,249
Ensembl chr10:30,933,483...30,960,824
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:21540183 RGD:9585751 NCBI chr10:45,806,748...45,936,362 JBrowse link
G MAT1A methionine adenosyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12060674 NCBI chr10:76,677,815...76,697,512
Ensembl chr10:80,280,063...80,298,291
JBrowse link
G MC4R melanocortin 4 receptor ISO OMIM:228100 MouseDO NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32045588 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
JBrowse link
G MFN2 mitofusin 2 ISO protein:decreased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) RGD PMID:15834927 RGD:1580580 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTTP microsomal triglyceride transfer protein ISO associated with Hepatitis C;mRNA:decreased expression:liver
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16697730 PMID:17303181 RGD:1625483 NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:24210820 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448 PMID:21285402 NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22367278 PMID:28555106 RGD:6893372 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO RGD PMID:21643627 RGD:5135028 NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
JBrowse link
G NOX4 NADPH oxidase 4 treatment ISO RGD PMID:30298849 RGD:401960083 NCBI chr11:84,330,362...84,496,755 JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO protein:increased activity:liver RGD PMID:17721935 RGD:5133249 NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
JBrowse link
G NR0B2 nuclear receptor subfamily 0 group B member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 1:26,174,055...26,176,689
Ensembl chr 1:27,230,362...27,232,942
JBrowse link
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr17:17,188,390...17,196,315
Ensembl chr17:17,409,669...17,417,600
JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23651738 NCBI chr11:47,195,122...47,215,277
Ensembl chr11:47,748,353...47,768,672
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 treatment
severity
ISO CTD Direct Evidence: marker/mechanism
knockout eliminates treatment effectiveness
CTD
RGD
PMID:12971955 PMID:23104131 PMID:29142166 RGD:14696795 RGD:15045573 NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25182422 NCBI chr 3:116,901,579...116,940,366
Ensembl chr 3:123,815,135...123,853,129
JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 treatment ISO RGD PMID:30298849 RGD:401960083 NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298
JBrowse link
G NREP neuronal regeneration related protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 5:107,089,968...107,118,919 JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: therapeutic CTD PMID:33812996 NCBI chr 6:115,486,422...115,521,317 JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Hepatic steatosis ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
JBrowse link
G OTC ornithine transcarbamylase ISO protein:increased expression:serum (rat) RGD PMID:18823438 RGD:4144061 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO RGD PMID:21756965 RGD:25440484 NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815
JBrowse link
G PLIN2 perilipin 2 ISO associated with Obesity
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16439473 PMID:17484887 RGD:1625752 NCBI chr 9:18,928,455...18,951,132
Ensembl chr 9:19,421,928...19,462,222
JBrowse link
G PNPLA3 patatin like phospholipase domain containing 3 severity ISO associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21319195 PMID:23564580 PMID:25284145 PMID:25678388 RGD:11055420 RGD:14981583 RGD:14981585 RGD:14981590 NCBI chr22:24,812,831...24,836,161
Ensembl chr22:43,004,499...43,027,003
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:167377 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26945512 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human)
CTD Direct Evidence: therapeutic
associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice
RGD
CTD
PMID:16393287 PMID:19124612 PMID:21929649 RGD:15042851 RGD:5509939 Ensembl chr22:45,218,364...45,302,970 JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23851158 NCBI chr 6:34,903,798...34,987,208
Ensembl chr 6:36,003,988...36,081,132
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment ISO RGD PMID:15112352 PMID:30298849 RGD:1580685 RGD:401960083 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment ISO protein:decreased methylation:liver (rat) RGD PMID:22521344 PMID:23174781 PMID:23274094 RGD:7241844 RGD:7242012 RGD:7242179 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO RGD PMID:19162361 RGD:6484544 NCBI chr 5:69,581,748...69,620,721
Ensembl chr 5:74,627,830...74,666,505
JBrowse link
G PRKCD protein kinase C delta ISO RGD PMID:17596878 RGD:1642523 NCBI chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910
JBrowse link
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Hepatic steatosis ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr16:48,687,324...48,734,883
Ensembl chr16:68,086,620...68,127,953
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:liver
OMIM:228100
CTD Direct Evidence: marker/mechanism
RGD
MouseDO
CTD
PMID:15199412 PMID:18166358 PMID:27022031 RGD:1302555 RGD:2292522 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA,protein:increased expression:liver RGD PMID:21643627 RGD:5135028 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G PTMA prothymosin alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15885234 NCBI chr2B:118,959,382...118,964,364 JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO RGD PMID:21643627 RGD:5135028 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:26769846 NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
JBrowse link
G SERPINA6 serpin family A member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr14:74,936,724...74,955,799
Ensembl chr14:94,269,299...94,288,391
JBrowse link
G SERPINE1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:29684222 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SHC1 SHC adaptor protein 1 ISO associated with Obesity RGD PMID:17596878 RGD:1642523 NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic
OMIM:228100
associated with Obesity
CTD
MouseDO
RGD
PMID:21321189 PMID:21540183 PMID:23834033 PMID:24184811 PMID:24210820 More... RGD:9585751 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G SIRT6 sirtuin 6 ISO CTD Direct Evidence: therapeutic CTD PMID:28536482 NCBI chr19:3,196,092...3,204,602
Ensembl chr19:4,146,057...4,154,126
JBrowse link
G SIRT7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24210820 NCBI chr17:76,317,560...76,323,761
Ensembl chr17:82,020,077...82,026,289
JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26303333 NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
JBrowse link
G SLC22A8 solute carrier family 22 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr11:58,345,026...58,368,089
Ensembl chr11:61,696,354...61,719,413
JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO mRNA, protein:increased expression RGD PMID:16248953 RGD:1625640 NCBI chr 9:99,463,338...99,483,802
Ensembl chr 9:128,133,365...128,151,077
JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12048068 NCBI chr 3:168,002,609...168,033,237
Ensembl chr 3:176,188,184...176,218,722
JBrowse link
G SLCO1A2 solute carrier organic anion transporter family member 1A2 ISO RGD PMID:16139386 RGD:1598602 NCBI chr12:64,963,090...65,029,673
Ensembl chr12:67,566,066...67,632,608
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr16:10,196,432...10,198,205 JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27349771 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:24469900 PMID:27813192 RGD:401842386 NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO RGD PMID:16799967 RGD:25671424 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G STS steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 Ensembl chr  X:7,047,017...7,207,540 JBrowse link
G SUOX sulfite oxidase ISO protein:decreased expression:liver RGD PMID:15144217 RGD:1600114 NCBI chr12:32,907,456...32,915,788
Ensembl chr12:33,157,277...33,165,661
JBrowse link
G TF transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 PMID:21907177 NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
JBrowse link
G TLR4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190 PMID:27022031 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348005 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TXN thioredoxin ISO RGD PMID:18578693 RGD:2306156 NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311
JBrowse link
G UCP2 uncoupling protein 2 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver
CTD
RGD
PMID:10860543 PMID:21114362 RGD:7204423 NCBI chr11:69,047,397...69,056,056
Ensembl chr11:72,354,529...72,363,185
JBrowse link
G VDR vitamin D receptor ISO RGD PMID:30905785 RGD:14402029 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G XBP1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943
JBrowse link
Tay-Sachs disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADPGK ADP dependent glucokinase ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:51,669,462...51,702,439
Ensembl chr15:70,429,956...70,462,444
JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:51,423,132...51,534,278
Ensembl chr15:70,187,722...70,297,226
JBrowse link
G BBS4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:51,601,526...51,656,460
Ensembl chr15:70,362,261...70,416,964
JBrowse link
G CD276 CD276 molecule ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:52,594,719...52,625,047 JBrowse link
G GM2A ganglioside GM2 activator ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar NCBI chr 5:146,680,277...146,696,505
Ensembl chr 5:152,680,696...152,697,018
JBrowse link
G GOLGA6B golgin A6 family member B ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:51,553,289...51,584,844 JBrowse link
G GRAMD2A GRAM domain containing 2A ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:51,111,249...51,148,379
Ensembl chr15:69,874,593...69,912,241
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
JBrowse link
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar Annotator: match by term: Tay-sachs disease, juvenile/adult OMIM
ClinVar
PMID:803011 PMID:1269177 PMID:1301189 PMID:1301190 PMID:1301937 More... NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688
Ensembl chr15:70,057,943...70,090,688
JBrowse link
G INSYN1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:52,650,196...52,663,270
Ensembl chr15:71,405,502...71,418,269
JBrowse link
G LOXL1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:52,835,675...52,861,324 JBrowse link
G MYO9A myosin IXA ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771
JBrowse link
G NEO1 neogenin 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:51,968,238...52,221,116
Ensembl chr15:70,789,035...70,977,178
JBrowse link
G NPTN neuroplastin ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:52,470,545...52,544,046
Ensembl chr15:71,229,992...71,269,579
JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034
JBrowse link
G PARP6 poly(ADP-ribose) polymerase family member 6 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:51,191,718...51,223,312
Ensembl chr15:69,955,568...69,987,061
JBrowse link
G PKM pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:51,149,584...51,182,193
Ensembl chr15:69,913,455...69,945,832
JBrowse link
G REC114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:52,357,979...52,470,811
Ensembl chr15:71,116,084...71,228,098
JBrowse link
G SENP8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:51,069,863...51,092,561
Ensembl chr15:69,854,934...69,855,572
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:103,381,356...103,474,902
Ensembl chr 9:132,016,767...132,109,665
JBrowse link
G TBC1D21 TBC1 domain family member 21 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:52,783,013...52,798,656
Ensembl chr15:71,538,363...71,553,960
JBrowse link
G TMEM202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr15:51,347,032...51,357,008
Ensembl chr15:70,111,035...70,120,598
JBrowse link
Tay-Sachs Disease, Juvenile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-sachs disease, juvenile ClinVar PMID:1301189 PMID:25741868 NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688
Ensembl chr15:70,057,943...70,090,688
JBrowse link
Tay-Sachs Disease, Variant B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant ClinVar PMID:1302612 PMID:1318511 PMID:1831451 PMID:1832817 PMID:1833974 More... NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688
Ensembl chr15:70,057,943...70,090,688
JBrowse link
Vacuolar Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASQ1 calsequestrin 1 ISO ClinVar Annotator: match by term: CASQ1-related condition | ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates OMIM
ClinVar
PMID:16714317 PMID:25116801 PMID:25741868 PMID:26136523 PMID:26416891 More... NCBI chr 1:135,544,249...135,555,545
Ensembl chr 1:139,465,605...139,476,969
JBrowse link
Wolman disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIT2 interferon induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,027,170...86,034,246
Ensembl chr10:89,566,827...89,573,795
JBrowse link
G IFIT3 interferon induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,053,139...86,066,193
Ensembl chr10:89,592,578...89,605,800
JBrowse link
G IFIT5 interferon induced protein with tetratricopeptide repeats 5 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,139,816...86,146,244
Ensembl chr10:89,678,703...89,685,839
JBrowse link
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: CHOLESTEROL ESTER HYDROLASE DEFICIENCY, COMPLETE | ClinVar Annotator: match by term: Wolman disease ClinVar
OMIM
PMID:1056246 PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 More... NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
G LOC100976728 interferon-induced protein with tetratricopeptide repeats 1 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,117,807...86,129,256
Ensembl chr10:89,667,149...89,668,579
JBrowse link
G LOC100977291 interferon-induced protein with tetratricopeptide repeats 1B ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,094,636...86,109,924
Ensembl chr10:89,648,070...89,649,517
JBrowse link
G SLC16A12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: Wolman disease ClinVar PMID:28492532 NCBI chr10:86,155,527...86,187,917
Ensembl chr10:89,696,148...89,727,585
JBrowse link
Wolman Disease with Hypolipoproteinemia and Acanthocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8254026 PMID:8598644 PMID:8617513 More... NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874
JBrowse link
xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11138003 NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012
JBrowse link
G LDLR low density lipoprotein receptor ISO DNA:mutation:exon:478T > A(rat) RGD PMID:22293196 RGD:12910105 NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 exacerbates ISO associated with atherosclerosis RGD PMID:30354239 RGD:126925206 NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO associated with atherosclerosis RGD PMID:30354239 RGD:126925206 NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    Nutritional and Metabolic Diseases 7181
      disease of metabolism 7181
        inherited metabolic disorder 5518
          lysosomal storage disease 936
            Danon disease 11
            Glutamyl Ribose-5-Phosphate Storage Disease 0
            HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT 1
            Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency 0
            Lysosomal Storage Diseases, Nervous System + 174
            Mannosidase Deficiency Diseases + 89
            Schindler disease + 2
            Vacuolar Myopathy 1
            aspartylglucosaminuria 1
            beta-mannosidosis 15
            cystinosis + 6
            galactosialidosis 4
            lipid storage disease + 769
            mucopolysaccharidosis + 41
            pycnodysostosis 2
Path 2
Term Annotations click to browse term
  disease 18006
    Developmental Disease 17892
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17809
        genetic disease 17793
          inherited metabolic disorder 5518
            lysosomal storage disease 936
              Danon disease 11
              Glutamyl Ribose-5-Phosphate Storage Disease 0
              HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT 1
              Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency 0
              Lysosomal Storage Diseases, Nervous System + 174
              Mannosidase Deficiency Diseases + 89
              Schindler disease + 2
              Vacuolar Myopathy 1
              aspartylglucosaminuria 1
              beta-mannosidosis 15
              cystinosis + 6
              galactosialidosis 4
              lipid storage disease + 769
              mucopolysaccharidosis + 41
              pycnodysostosis 2
paths to the root