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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:Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
Synonyms:exact_synonym: Lysosomal Enzyme Disorder;   Lysosomal Enzyme Disorders;   disorder of lysosomal enzyme;   inborn lysosomal enzyme disorder;   lysosomal storage diseases;   lysosomal storage metabolism disorder
 primary_id: MESH:D016464;   RDO:0001994
 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 chr16:41,222,225...41,234,169
Ensembl chr16:41,222,238...41,234,095
JBrowse link
G Ctsa cathepsin A ISO RGD PMID:8514852 RGD:1599169 NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISS MouseDO NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP
ISO
RGD PMID:26115886, PMID:18755807, PMID:27220557, PMID:22013387 RGD:25330099, RGD:25824943, RGD:25824939, RGD:25440493 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member severity
treatment
susceptibility
IDA
ISO
human transgene in mouse model
protein:altered processing:liver (mouse)
DNA:missense mutation:cds:p.E504K (human)
RGD PMID:17058263, PMID:25457208, PMID:29156373, PMID:29063269 RGD:1599041, RGD:15036811, RGD:15036805, RGD:14696776 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:25557254 RGD:14995489 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 treatment ISO RGD PMID:25557254 RGD:14995489
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO RGD PMID:27859576 RGD:14401742 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:24280415 RGD:11041117 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Crp C-reactive protein IEP protein:increased expression:serum: RGD PMID:21806828 RGD:9491781 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Ctsb cathepsin B IEP protein:increased activity:liver, cytosol (rat) RGD PMID:17850215 RGD:2315516 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26428356, PMID:25583360, PMID:24064383 RGD:14700884, RGD:14700870 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:22905112 RGD:9588654 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:decreased expression:liver RGD PMID:19253830 RGD:11041633 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Ldlr low density lipoprotein receptor IEP protein:decreased expression: liver (rat) RGD PMID:20028367 RGD:21410185 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:26867493 RGD:25671474 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase IEP RGD PMID:17156888 RGD:1642369 NCBI chr10:46,339,821...46,404,640
Ensembl chr10:46,339,821...46,404,642
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18703563 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:liver (rat) RGD PMID:25561792 RGD:11075083 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:decreased expression:liver RGD PMID:18996124 RGD:2312349 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19951287 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:11477087 RGD:1625694 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP RGD PMID:18296740 RGD:7207884 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO RGD PMID:29884546, PMID:21463341 RGD:14697697, RGD:14700554 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment
ISO
IEP
DNA:SNP:promoter:-238G>A (human) RGD PMID:9214463, PMID:20143470 RGD:14995434, RGD:38508901 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
alpha-mannosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase
ClinVar Annotator: match by term: alpha-Mannosidosis
ClinVar Annotator: match by term: Alpha-Mannosidosis
ClinVar Annotator: match by OMIM:248500
OMIM
ClinVar
PMID:724292, PMID:1472354, PMID:4358183, PMID:7307317, PMID:9158146, PMID:9370301, PMID:9758606, PMID:9915946, PMID:11959458, PMID:12634058, PMID:12816222, PMID:14765545, PMID:15035660, PMID:15712269, PMID:16919251, PMID:17979865, PMID:18414213, PMID:18651971, PMID:19958498, PMID:20165920, PMID:20301570, PMID:21505070, PMID:22161967, PMID:23613340, PMID:24033266, PMID:24353136, PMID:24767253, PMID:25741868, PMID:25762455, PMID:26048034, PMID:26633546, PMID:27959697, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr19:26,196,797...26,216,981
Ensembl chr19:26,196,837...26,216,267
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 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
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 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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
ClinVar Annotator: match by term: Aspartylglycosaminuria
ClinVar Annotator: match by OMIM:208400
OMIM
ClinVar
PMID:1559710, PMID:1703489, PMID:1722323, PMID:1756604, PMID:1765378, PMID:1879549, PMID:1904874, PMID:2011603, PMID:2811876, PMID:6883788, PMID:7627186, PMID:7881426, PMID:8172656, PMID:8457202, PMID:8702913, PMID:8776587, PMID:8830180, PMID:9137882, PMID:9737998, PMID:9742145, PMID:10399108, PMID:11309371, PMID:15365992, PMID:18992224, PMID:21228398, PMID:23271757, PMID:24033266, PMID:25456816, PMID:25741868, PMID:27876883, PMID:28492532, PMID:29930972 NCBI chr16:41,222,225...41,234,169
Ensembl chr16:41,222,238...41,234,095
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 Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Gaucher disease, atypical, due to saposin C deficiency OMIM
ClinVar
PMID:1371116, PMID:2060627, PMID:2514102, PMID:2615292, PMID:6256275, PMID:8370580, PMID:8460394, PMID:15856305, PMID:17919309, PMID:25741868, PMID:26822237, PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
beta-mannosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Manba mannosidase beta ISO ClinVar Annotator: match by term: beta-Mannosidosis
ClinVar Annotator: match by term: Beta-D-mannosidosis
ClinVar
OMIM
PMID:1499588, PMID:1623631, PMID:2079835, PMID:3762648, PMID:9384606, PMID:12468273, PMID:12890191, PMID:16401745, PMID:16904924, PMID:17420068, PMID:18565776, PMID:19728872, PMID:22369051, PMID:24033266, PMID:25741867, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30872814 NCBI chr 2:240,668,213...240,760,264
Ensembl chr 2:240,668,195...240,760,261
JBrowse link
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa
ClinVar PMID:2203258, PMID:8912788, PMID:16838077, PMID:18414213, PMID:20080426, PMID:23430949, PMID:23757202, PMID:25243733, PMID:25525159, PMID:25741868, PMID:27623443, PMID:28196920, PMID:28492532, PMID:30311386 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
cerebrotendinous xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO OMIM:213700, R446C, R362C
ClinVar Annotator: match by term: Cholestanol storage disease
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:213700
ClinVar
CTD
OMIM
PMID:2019602, PMID:7915755, PMID:8006521, PMID:8014582, PMID:8514861, PMID:8730343, PMID:8827518, PMID:8931710, PMID:8950197, PMID:9008528, PMID:9186905, PMID:9254865, PMID:9392430, PMID:9521761, PMID:9548584, PMID:9790667, PMID:10406988, PMID:10430841, PMID:10519880, PMID:10741487, PMID:10775536, PMID:11181744, PMID:11737215, PMID:11903362, PMID:12000359, PMID:12117727, PMID:12270007, PMID:12555943, PMID:12933951, PMID:14741198, PMID:14999499, PMID:15795599, PMID:16157755, PMID:16278884, PMID:16816916, PMID:17030721, PMID:17319284, PMID:17444890, PMID:17697869, PMID:18227423, PMID:18414213, PMID:19204079, PMID:19373932, PMID:19801147, PMID:20301583, PMID:20402754, PMID:20450308, PMID:20558929, PMID:20925952, PMID:20981092, PMID:21073839, PMID:21228398, PMID:21345536, PMID:21404287, PMID:21553098, PMID:21627786, PMID:21645175, PMID:21764626, PMID:21955034, PMID:21958693, PMID:21966169, PMID:22197981, PMID:22336472, PMID:22849591, PMID:22878431, PMID:23212406, PMID:23287330, PMID:23659550, PMID:24002088, PMID:24033266, PMID:24080357, PMID:24174808, PMID:24584636, PMID:24627108, PMID:24746394, PMID:25112387, PMID:25447658, PMID:25525159, PMID:25741868, PMID:25862734, PMID:25941960, PMID:25983621, PMID:26156051, PMID:26206375, PMID:26467025, PMID:26519892, PMID:26622071, PMID:26643207, PMID:26861945, PMID:26906304, PMID:26937392, PMID:27084087, PMID:27142713, PMID:27225395, PMID:27455001, PMID:27535533, PMID:27678445, PMID:27858369, PMID:27878435, PMID:27879219, PMID:27884173, PMID:28337550, PMID:28492532, PMID:28590052, PMID:28623566, PMID:28894950, PMID:29095540, PMID:29242796, PMID:29269672, PMID:29321515, PMID:29434128, PMID:30311386, PMID:2019602 RGD:1600872 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:25741868, PMID:28492532, PMID:28590052 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8146180, PMID:16255772, PMID:24295952, PMID:28492532, PMID:6097111 RGD:1600621 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
combined saposin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: PROSAPOSIN DEFICIENCY
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by OMIM:611721
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1371116, PMID:1689485, PMID:2019586, PMID:2066109, PMID:2302219, PMID:2320574, PMID:2514102, PMID:8370580, PMID:8554069, PMID:10196694, PMID:10682309, PMID:11309366, PMID:15773042, PMID:17561962, PMID:17616409, PMID:17919309, PMID:18429043, PMID:18693274, PMID:19267410, PMID:19955343, PMID:20484222, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:26462614, PMID:26831127, PMID:28492532, PMID:30632081 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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 chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
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 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Nephropathic cystinosis
ClinVar Annotator: match by term: Cystinosin, defect of
ClinVar Annotator: match by term: Cystinosis
DNA:missense mutation:cds:p.G339R (human)
human gene in a mouse model
DNA:deletion:exons, introns (human)
ClinVar Annotator: match by OMIM:219800
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF
ClinVar Annotator: match by synonym: Cystinosis, atypical nephropathic
ClinVar
CTD
OMIM
PMID:9537412, PMID:9792862, PMID:10482956, PMID:10556299, PMID:10571941, PMID:10625078, PMID:10673275, PMID:11505338, PMID:11562417, PMID:11565547, PMID:11689434, PMID:11708862, PMID:11855931, PMID:12110740, PMID:12204010, PMID:12442267, PMID:12644911, PMID:12825071, PMID:15128704, PMID:15365816, PMID:15879904, PMID:18178779, PMID:18186520, PMID:18752449, PMID:19580442, PMID:19852576, PMID:19863563, PMID:21305353, PMID:21546516, PMID:21786142, PMID:21963264, PMID:22232659, PMID:22450360, PMID:22528245, PMID:22664570, PMID:23640116, PMID:24033266, PMID:24123366, PMID:24464559, PMID:25326109, PMID:25741868, PMID:26266097, PMID:26489029, PMID:26565940, PMID:27102039, PMID:27451386, PMID:27533158, PMID:27625850, PMID:27734949, PMID:27858370, PMID:28122645, PMID:28238446, PMID:28276207, PMID:28405942, PMID:28492532, PMID:28649545, PMID:28893421, PMID:29421779, PMID:29467429, PMID:30554218, PMID:30949462, PMID:9537412, PMID:11565547, PMID:12370309, PMID:18578013, PMID:9792862, PMID:10068513 RGD:1601022, RGD:12910936, RGD:12910868, RGD:12910866, RGD:11064664, RGD:12910865 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Nephropathic cystinosis ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Nephropathic cystinosis ClinVar NCBI chr10:59,743,356...59,748,063
Ensembl chr10:59,743,544...59,748,062
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Cystinosis
ClinVar Annotator: match by term: Nephropathic cystinosis
ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:21546516, PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
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 Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
ClinVar Annotator: match by OMIM:219900
OMIM
ClinVar
PMID:9537412, PMID:9792862, PMID:10444339, PMID:10482956, PMID:10556299, PMID:10571941, PMID:10625078, PMID:10673275, PMID:11505338, PMID:11562417, PMID:11565547, PMID:11689434, PMID:11708862, PMID:11855931, PMID:12110740, PMID:12204010, PMID:12442267, PMID:12825071, PMID:15128704, PMID:15365816, PMID:18178779, PMID:18186520, PMID:18752449, PMID:19852576, PMID:19863563, PMID:21546516, PMID:21786142, PMID:22450360, PMID:22664570, PMID:23640116, PMID:24123366, PMID:24464559, PMID:25326109, PMID:25741868, PMID:26266097, PMID:27102039, PMID:27533158, PMID:27625850, PMID:27734949, PMID:27858370, PMID:28276207, PMID:28405942, PMID:28492532, PMID:28649545, PMID:28893421, PMID:29467429, PMID:30949462 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
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:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
Cystinosis, Ocular Nonnephropathic 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: Cystinosis, benign, nonnephropathic
ClinVar Annotator: match by term: Cystinosis, ocular nonnephropathic
DNA:deletions, snps, missense mutation:multiple (human)
ClinVar Annotator: match by OMIM:219750
OMIM
ClinVar
PMID:9537412, PMID:9792862, PMID:10482956, PMID:10556299, PMID:10571941, PMID:10625078, PMID:10673275, PMID:11505338, PMID:11562417, PMID:11565547, PMID:11689434, PMID:11708862, PMID:11855931, PMID:12110740, PMID:12204010, PMID:12442267, PMID:12825071, PMID:15128704, PMID:15365816, PMID:18178779, PMID:18186520, PMID:18752449, PMID:19852576, PMID:19863563, PMID:21546516, PMID:21786142, PMID:22450360, PMID:22664570, PMID:23640116, PMID:24033266, PMID:24123366, PMID:24464559, PMID:25326109, PMID:25741868, PMID:26266097, PMID:27102039, PMID:27533158, PMID:27625850, PMID:27734949, PMID:27858370, PMID:28276207, PMID:28405942, PMID:28492532, PMID:28649545, PMID:28893421, PMID:29467429, PMID:30949462, PMID:10625078 RGD:12910937 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar NCBI chr10:59,743,356...59,748,063
Ensembl chr10:59,743,544...59,748,062
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:9537412, PMID:9792862, PMID:10625078, PMID:10673275, PMID:12110740, PMID:15365816, PMID:18186520, PMID:19863563, PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
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:123,773,430...123,788,898
Ensembl chr  X:123,773,430...123,788,898
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:124,631,544...124,652,520
Ensembl chr  X:124,631,881...124,652,975
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO
IMP
ClinVar Annotator: match by term: Danon disease
ClinVar Annotator: match by term: Glycogen storage cardiomyopathy
ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb
in hemizygote mutant male (LAMP2y/-)
ClinVar Annotator: match by OMIM:300257
OMIM
ClinVar
PMID:3087571, PMID:6408499, PMID:6450334, PMID:7919972, PMID:8504498, PMID:10972294, PMID:12112061, PMID:14598234, PMID:15253947, PMID:15673802, PMID:15792868, PMID:15889279, PMID:15907287, PMID:16190986, PMID:16217705, PMID:16565504, PMID:17899313, PMID:18061453, PMID:18282207, PMID:18312451, PMID:18555174, PMID:18990578, PMID:19318653, PMID:19373884, PMID:19533775, PMID:20173215, PMID:20445193, PMID:20960602, PMID:21070164, PMID:21415759, PMID:21520333, PMID:21896538, PMID:22074992, PMID:22695892, PMID:23168931, PMID:23785128, PMID:24033266, PMID:24503780, PMID:25091525, PMID:25326635, PMID:25458169, PMID:25741868, PMID:25826782, PMID:26748608, PMID:27066507, PMID:27179547, PMID:27532257, PMID:27600940, PMID:27678261, PMID:28492532, PMID:28771489, PMID:29753918, PMID:29915097, PMID:29720683 RGD:13703117 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 IMP in hemizygote mutant male (LAMP2y/-) RGD PMID:29720683 RGD:13703117
G LOC100364002 reproductive homeobox 9-like ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,999,683...124,002,081
Ensembl chr  X:123,999,683...124,002,073
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,803,109...123,806,760
Ensembl chr  X:124,513,269...124,516,705
Ensembl chr  X:124,513,269...124,516,705
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,751,196...123,770,595
Ensembl chr  X:123,751,089...123,770,595
JBrowse link
G Rhox10 reproductive homeobox 10 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,207,017...124,211,455
Ensembl chr  X:124,207,017...124,211,455
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:123,806,922...123,808,049
Ensembl chr  X:124,516,949...124,518,077
JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Danon disease ClinVar PMID:28492532 NCBI chr  X:124,400,686...124,465,156
Ensembl chr  X:124,328,735...124,465,110
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:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385
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:124,319,299...124,326,506
Ensembl chr  X:124,321,551...124,323,960
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Gla galactosidase, alpha ISO DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Fabry disease
ClinVar Annotator: match by term: Fabry's disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:301500
ClinVar
CTD
OMIM
PMID:1315304, PMID:1315715, PMID:1650161, PMID:1668641, PMID:1753437, PMID:1846223, PMID:2152885, PMID:2160973, PMID:2164807, PMID:2171331, PMID:2393552, PMID:2539398, PMID:2744760, PMID:2836863, PMID:6379599, PMID:7504405, PMID:7531540, PMID:7575533, PMID:7596372, PMID:7911050, PMID:7951217, PMID:8069316, PMID:8395937, PMID:8411052, PMID:8738659, PMID:8807334, PMID:8834244, PMID:8863162, PMID:8875188, PMID:8878432, PMID:8996967, PMID:9100224, PMID:9105656, PMID:9116979, PMID:9395081, PMID:9452068, PMID:9452111, PMID:9554750, PMID:9883849, PMID:10090526, PMID:10208848, PMID:10649504, PMID:10666480, PMID:10838196, PMID:10845698, PMID:10916280, PMID:11076046, PMID:11137837, PMID:11295840, PMID:11322659, PMID:11531969, PMID:11531972, PMID:11668641, PMID:11688386, PMID:11804208, PMID:11828341, PMID:11889412, PMID:11914245, PMID:12068026, PMID:12175777, PMID:12359124, PMID:12428061, PMID:12429061, PMID:12480979, PMID:12668521, PMID:12694230, PMID:12778775, PMID:12786754, PMID:12796853, PMID:12911529, PMID:12920095, PMID:12938095, PMID:14635108, PMID:14680977, PMID:15091117, PMID:15100373, PMID:15162124, PMID:15339079, PMID:15492942, PMID:15702404, PMID:15712228, PMID:15713906, PMID:15776423, PMID:15806320, PMID:16215932, PMID:16232095, PMID:16533976, PMID:16595074, PMID:16754800, PMID:16773563, PMID:17040996, PMID:17206462, PMID:17452128, PMID:17532296, PMID:17555407, PMID:17656478, PMID:17804462, PMID:18023222, PMID:18057066, PMID:18154965, PMID:18205205, PMID:18287059, PMID:18297328, PMID:18387337, PMID:18424138, PMID:18565198, PMID:18596132, PMID:18633574, PMID:18698230, PMID:18830871, PMID:18849176, PMID:19287194, PMID:19373884, PMID:19387866, PMID:19621417, PMID:19763152, PMID:19823873, PMID:19925601, PMID:19941952, PMID:20022777, PMID:20031620, PMID:20110537, PMID:20122163, PMID:20300124, PMID:20307669, PMID:20360539, PMID:20367968, PMID:20464614, PMID:20498269, PMID:20505683, PMID:20615758, PMID:20628902, PMID:20716442, PMID:20821055, PMID:21062768, PMID:21092187, PMID:21138548, PMID:21229318, PMID:21333496, PMID:21353612, PMID:21517827, PMID:21549080, PMID:21587323, PMID:21598360, PMID:21683120, PMID:21804088, PMID:21890869, PMID:21896204, PMID:21946453, PMID:21972175, PMID:22004918, PMID:22078290, PMID:22176145, PMID:22205110, PMID:22226368, PMID:22227322, PMID:22241068, PMID:22305854, PMID:22378313, PMID:22406018, PMID:22437327, PMID:22472932, PMID:22551898, PMID:22563919, PMID:22682330, PMID:22695894, PMID:22773828, PMID:22805550, PMID:22874111, PMID:22905681, PMID:23109060, PMID:23146289, PMID:23219219, PMID:23248976, PMID:23305247, PMID:23306324, PMID:23307880, PMID:23332617, PMID:23378663, PMID:23393592, PMID:23430502, PMID:23430526, PMID:23430946, PMID:23465405, PMID:23474038, PMID:23537685, PMID:23566439, PMID:23568732, PMID:23591357, PMID:23677059, PMID:23691425, PMID:23724928, PMID:23806086, PMID:23818648, PMID:23913314, PMID:23922385, PMID:23935525, PMID:23980562, PMID:24015197, PMID:24033266, PMID:24082139, PMID:24088041, PMID:24094560, PMID:24236025, PMID:24334114, PMID:24365053, PMID:24380807, PMID:24386359, PMID:24395922, PMID:24503780, PMID:24582695, PMID:24613481, PMID:24661928, PMID:24718812, PMID:24784157, PMID:24829596, PMID:25026990, PMID:25040344, PMID:25078086, PMID:25149322, PMID:25179549, PMID:25319043, PMID:25382311, PMID:25386848, PMID:25407461, PMID:25409744, PMID:25439755, PMID:25468650, PMID:25468652, PMID:25511234, PMID:25525159, PMID:25596309, PMID:25611685, PMID:25637381, PMID:25663229, PMID:25687216, PMID:25741868, PMID:25900714, PMID:25955246, PMID:25974833, PMID:25977923, PMID:26044846, PMID:26047621, PMID:26083343, PMID:26179544, PMID:26238931, PMID:26252393, PMID:26297554, PMID:26305465, PMID:26333625, PMID:26415523, PMID:26424312, PMID:26456105, PMID:26563328, PMID:26631895, PMID:26652600, PMID:26691501, PMID:26866599, PMID:26937405, PMID:26990548, PMID:27083555, PMID:27129690, PMID:27142856, PMID:27160240, PMID:27211852, PMID:27238910, PMID:27356758, PMID:27431810, PMID:27532257, PMID:27554049, PMID:27560961, PMID:27576502, PMID:27585509, PMID:27595546, PMID:27629047, PMID:27657681, PMID:27773586, PMID:27825144, PMID:27831900, PMID:27832731, PMID:27896102, PMID:27896103, PMID:27916943, PMID:27931613, PMID:27979989, PMID:27992580, PMID:28082092, PMID:28253518, PMID:28275245, PMID:28299312, PMID:28302345, PMID:28340804, PMID:28360401, PMID:28377241, PMID:28389313, PMID:28409012, PMID:28430823, PMID:28492532, PMID:28500230, PMID:28596458, PMID:28615118, PMID:28646478, PMID:28649509, PMID:28672034, PMID:28682471, PMID:28723748, PMID:28728877, PMID:28749998, PMID:28756410, PMID:28798024, PMID:28799081, PMID:28941980, PMID:28988177, PMID:29018006, PMID:29037082, PMID:29079200, PMID:29132836, PMID:29203563, PMID:29215092, PMID:29247119, PMID:29307789, PMID:29330335, PMID:29476735, PMID:29487688, PMID:29491734, PMID:29543226, PMID:29631605, PMID:29661900, PMID:29770213, PMID:29794742, PMID:29867742, PMID:29982630, PMID:30038331, PMID:30093709, PMID:30201457, PMID:30311386, PMID:30380558, PMID:30385651, PMID:30386727, PMID:30568064, PMID:30569317, PMID:30571380, PMID:30594474, PMID:30644091, PMID:30715505, PMID:30773290, PMID:30972193, PMID:31020198, PMID:31036492, PMID:31200018, PMID:31213654, PMID:31291414, PMID:31392112, PMID:31449323, PMID:31566927, PMID:31654629, PMID:31907047, PMID:32418857, PMID:32531501, PMID:32860008, PMID:2539398 RGD:1601350 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry Disease ClinVar NCBI chr 3:148,386,185...148,397,851
Ensembl chr 3:148,386,189...148,399,501
JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:12938095 NCBI chr  X:104,734,035...104,760,658
Ensembl chr  X:104,734,082...104,760,547
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Fabry disease, cardiac variant
ClinVar PMID:1315715, PMID:1846223, PMID:2171331, PMID:7596372, PMID:8738659, PMID:9395081, PMID:9883849, PMID:10208848, PMID:10838196, PMID:10916280, PMID:11322659, PMID:11688386, PMID:11828341, PMID:12428061, PMID:15702404, PMID:17532296, PMID:17555407, PMID:19621417, PMID:19823873, PMID:20031620, PMID:20505683, PMID:20821055, PMID:21598360, PMID:22241068, PMID:22437327, PMID:23109060, PMID:23378663, PMID:23935525, PMID:24033266, PMID:24386359, PMID:25382311, PMID:25611685, PMID:25741868, PMID:27356758, PMID:27554049, PMID:27560961, PMID:27595546, PMID:27931613, PMID:28082092, PMID:28377241, PMID:28430823, PMID:28492532, PMID:29215092 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
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 disease
ClinVar Annotator: match by term: Farber's lipogranulomatosis
ClinVar Annotator: match by OMIM:228000
OMIM
ClinVar
PMID:3037247, PMID:8955159, PMID:9128814, PMID:10610716, PMID:11241842, PMID:16951918, PMID:20560208, PMID:21893389, PMID:22565078, PMID:23707712, PMID:24033266, PMID:24164096, PMID:24614645, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29358611, PMID:31680123 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
fatty 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 IEP
ISO
associated with adult growth hormone deficiency RGD PMID:15995177, PMID:26362727, PMID:30130150 RGD:1598534, RGD:21408552, RGD:18936993 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 IEP RGD PMID:16139386 RGD:1598602 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP mRNA, protein:increased expression:liver RGD PMID:17640958 RGD:2301064 NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Acaca acetyl-CoA carboxylase alpha IDA RGD PMID:16485039 RGD:1625727 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Acacb acetyl-CoA carboxylase beta IDA RGD PMID:16485039 RGD:1625727 NCBI chr12:48,127,149...48,238,969
Ensembl chr12:48,127,149...48,238,887
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP
ISO
associated with hepatitis C;protein:increased expression:serum
protein:increased expression:plasma
RGD PMID:17006986, PMID:20714777, PMID:16115302 RGD:1599139, RGD:5686883, RGD:5686674 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adipor2 adiponectin receptor 2 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:30225267, PMID:19076162 RGD:21406435, RGD:2307264 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Adk adenosine kinase ISS OMIM:228100 MouseDO NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO RGD PMID:11718682 RGD:1559320 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO RGD PMID:17332477 RGD:14349048 NCBI chr 9:94,228,960...94,232,001
Ensembl chr 9:94,228,960...94,232,001
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO associated with obesity RGD PMID:16197789 RGD:1601177 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Angptl4 angiopoietin-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842503, PMID:15837923 RGD:1625354 NCBI chr 7:18,627,814...18,634,043
Ensembl chr 7:18,627,808...18,634,079
JBrowse link
G Apoa1 apolipoprotein A1 treatment IEP RGD PMID:30231880 RGD:25671436 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B IEP
ISO
mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:12048068, PMID:17303181, PMID:17203948 RGD:2325770 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E IMP RGD PMID:29459263 RGD:13703129 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atf4 activating transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 7:121,480,723...121,482,781
Ensembl chr 7:121,480,723...121,482,772
JBrowse link
G Atp5if1 ATP synthase inhibitory factor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 5:150,719,570...150,723,287
Ensembl chr 5:150,719,569...150,723,321
JBrowse link
G Atp7b ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303181 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21664615 NCBI chr 8:6,048,590...6,076,828
Ensembl chr 8:6,048,969...6,076,598
JBrowse link
G Ca3 carbonic anhydrase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 2:88,126,519...88,136,063
Ensembl chr 2:88,126,667...88,135,410
JBrowse link
G Cat catalase IEP
ISO
protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:10860543, PMID:21452373 RGD:5130871 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29684222, PMID:22983634 RGD:8548844 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:liver RGD PMID:28011329, PMID:28011329 RGD:14995306, RGD:14995306 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:19788606 RGD:6893500 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr18:81,521,966...81,539,065
Ensembl chr18:81,521,968...81,539,065
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:15787813 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 IEP protein:increased expression:liver (rat) RGD PMID:20347174 RGD:4144089 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO RGD PMID:14614508 RGD:734818 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Ctsb cathepsin B IEP mRNA, protein:increased expression, increased activity:liver, cytosol (rat) RGD PMID:18452148 RGD:2315513 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO mRNA,protein:increased expression:liver,serum RGD PMID:25048951 RGD:27095890 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11929713 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO mRNA:increased expression:liver (mouse) RGD PMID:31175967 RGD:25671414 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 IEP
ISO
protein:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:18952117, PMID:19404342, PMID:14606109 RGD:4892244, RGD:1626302 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23391614 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 treatment IMP RGD PMID:17526931 RGD:10400884 NCBI chr 1:164,113,459...164,143,818
Ensembl chr 1:164,113,459...164,143,818
JBrowse link
G Dhrs7 dehydrogenase/reductase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 6:95,522,577...95,541,393
Ensembl chr 6:95,522,577...95,541,393
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G F2 coagulation factor II ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F2r coagulation factor II (thrombin) receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134, PMID:21907177, PMID:22841818 NCBI chr 2:26,118,760...26,135,340
Ensembl chr 2:26,118,760...26,135,340
JBrowse link
G Fabp1 fatty acid binding protein 1 ISO Western diet-induced hepatic steatosis RGD PMID:17058218 RGD:1626440 NCBI chr 4:99,063,181...99,066,957
Ensembl chr 4:99,063,181...99,066,954
JBrowse link
G Fgf21 fibroblast growth factor 21 severity ISO CTD Direct Evidence: therapeutic CTD PMID:24184811, PMID:32195457 RGD:25330354 NCBI chr 1:101,595,579...101,596,822
Ensembl chr 1:101,595,579...101,596,822
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 severity ISO RGD PMID:32195457 RGD:25330354 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Foxa1 forkhead box A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 6:78,516,579...78,549,669
Ensembl chr 6:78,545,804...78,549,669
JBrowse link
G G6pc glucose-6-phosphatase, catalytic subunit IEP mRNA:increased expression:liver (rat) RGD PMID:29534506 RGD:14695544 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Gck glucokinase IDA
ISO
associated with Hyperglycemia RGD PMID:22925001, PMID:22925001 RGD:7488945, RGD:7488945 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:19670414 RGD:14747016 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD PMID:19481104, PMID:30185098 RGD:14975167 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO mRNA:increased expression:liver RGD PMID:15122758 RGD:14975241 NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26042203 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
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 chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17116638 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
G Has3 hyaluronan synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27042213 NCBI chr19:39,063,298...39,077,745
Ensembl chr19:39,063,998...39,077,722
JBrowse link
G Hfe homeostatic iron regulator no_association ISO Non-alcoholic steatohepatitis (NASH)
non-alcoholic fatty liver disease
RGD PMID:12105842, PMID:11473047 RGD:1601460, RGD:1601452 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hhex hematopoietically expressed homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr 1:256,101,994...256,107,581
Ensembl chr 1:256,101,903...256,107,649
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 IEP associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: RGD PMID:23647685 RGD:11354957 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISS OMIM:228100 MouseDO NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 IEP associated with Diabetes Mellitus RGD PMID:18267346 RGD:2308948 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 IMP RGD PMID:18802068 RGD:4145478 NCBI chr  X:118,443,955...118,514,716
Ensembl chr  X:118,443,823...118,513,061
JBrowse link
G Il18 interleukin 18 IDA RGD PMID:19084941 RGD:4889416 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:serum RGD PMID:17436085 RGD:1626661 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO
IAGP
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:19205029, PMID:19076162 RGD:2307258, RGD:2307264 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ins2 insulin 2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:9048448, PMID:18713300 RGD:2311137 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Insig1 insulin induced gene 1 severity ISO
IEP
associated with Obesity
associated with Obesity;mRNA:increased expression:liver
RGD PMID:15096598, PMID:15096598 RGD:2308857, RGD:2308857 NCBI chr 4:342,302...350,515
Ensembl chr 4:342,302...350,515
JBrowse link
G Insig2 insulin induced gene 2 severity ISO associated with Obesity RGD PMID:15096598 RGD:2308857 NCBI chr13:37,264,818...37,292,718
Ensembl chr13:37,266,312...37,287,458
JBrowse link
G Insr insulin receptor treatment IEP
IMP
associated with obesity;human gene in mouse model
protein:decreased phosphorylation: liver (rat)
RGD PMID:25160038, PMID:30642871, PMID:22546076 RGD:14700926, RGD:14701028, RGD:14700935 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:22275361 RGD:6483019 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO RGD PMID:22367278 RGD:6893372 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Ldlr low density lipoprotein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25554529 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
G Lep leptin severity ISO
IEP
CTD Direct Evidence: marker/mechanism
associated with morbid obesity;protein:decreased exprssion:serum (human)
CTD PMID:12661780, PMID:19716478, PMID:23839791, PMID:24525044, PMID:25554529, PMID:27712037, PMID:28281237 RGD:21201250 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25367288, PMID:29743445 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lgals3 galectin 3 ISS OMIM:228100 MouseDO NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Lrp6 LDL receptor related protein 6 ISS OMIM:228100 MouseDO NCBI chr 4:168,194,054...168,323,962
Ensembl chr 4:168,194,927...168,323,751
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21540183 RGD:9585751 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mat1a methionine adenosyltransferase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12060674 NCBI chr16:18,690,649...18,709,135
Ensembl chr16:18,690,246...18,709,133
JBrowse link
G Mc4r melanocortin 4 receptor ISS OMIM:228100 MouseDO NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
JBrowse link
G Mfn2 mitofusin 2 IEP protein:decreased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mir10b microRNA 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 3:61,647,978...61,648,086
Ensembl chr 3:61,647,978...61,648,086
JBrowse link
G Mir125a microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
JBrowse link
G Mir134 microRNA 134 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,884,547...133,884,619
Ensembl chr 6:133,884,531...133,884,633
JBrowse link
G Mir139 microRNA 139 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 1:166,589,545...166,589,612
Ensembl chr 1:166,589,545...166,589,612
JBrowse link
G Mir148b microRNA 148b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 7:144,912,038...144,912,134
Ensembl chr 7:144,912,038...144,912,134
JBrowse link
G Mir150 microRNA 150 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 1:101,115,974...101,116,058
Ensembl chr 1:101,115,974...101,116,058
JBrowse link
G Mir154 microRNA 154 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,888,586...133,888,669
Ensembl chr 6:133,888,586...133,888,669
JBrowse link
G Mir17 microRNA 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr15:100,179,879...100,179,962
Ensembl chr15:100,179,879...100,179,962
JBrowse link
G Mir183 microRNA 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 4:57,463,569...57,463,678
Ensembl chr 4:57,463,569...57,463,678
JBrowse link
G Mir219a1 microRNA 219a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr20:3,816,158...3,816,267
Ensembl chr20:3,816,158...3,816,267
JBrowse link
G Mir22 microRNA 22 severity ISO RGD PMID:32195457, PMID:32195457 RGD:25330354, RGD:25330354 NCBI chr10:62,299,592...62,299,686
Ensembl chr10:62,299,592...62,299,686
JBrowse link
G Mir224 microRNA 224 IEP associated with Hepatitis C, Chronic;miRNA:increased expression:liver (human) RGD PMID:25386083 RGD:18182925 NCBI chr  X:152,223,754...152,223,835
Ensembl chr  X:152,223,754...152,223,835
JBrowse link
G Mir320a microRNA 320a ISO CTD Direct Evidence: marker/mechanism CTD PMID:30125006 NCBI chr15:52,134,276...52,134,357
Ensembl chr15:52,134,276...52,134,357
JBrowse link
G Mir34a microRNA 34a ISO CTD Direct Evidence: marker/mechanism CTD PMID:23834033 NCBI chr 5:167,092,491...167,092,592
Ensembl chr 5:167,092,491...167,092,592
JBrowse link
G Mir410 microRNA 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 6:133,893,997...133,894,072
Ensembl chr 6:133,893,993...133,894,073
JBrowse link
G Mir449c microRNA 449c ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr 2:44,896,066...44,896,164
Ensembl chr 2:44,896,066...44,896,164
JBrowse link
G Mir503 microRNA 503 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:158,148,476...158,148,546
Ensembl chr  X:158,148,476...158,148,546
JBrowse link
G Mir542 microRNA 542 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363424 NCBI chr  X:158,152,146...158,152,224
Ensembl chr  X:158,152,146...158,152,224
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mttp microsomal triglyceride transfer protein ISO associated with Hepatitis C;mRNA:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:17303181, PMID:16697730 RGD:1625483 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:24210820 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16446448, PMID:21285402 NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28555106, PMID:22367278 RGD:6893372 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 IDA RGD PMID:21643627 RGD:5135028 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IEP protein:increased activity:liver RGD PMID:17721935 RGD:5133249 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nr0b2 nuclear receptor subfamily 0, group B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr 5:151,776,004...151,779,319
Ensembl chr 5:151,776,004...151,779,319
JBrowse link
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27664470 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23651738 NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
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 PMID:29142166, PMID:12971955, PMID:23104131 RGD:15045573, RGD:14696795 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25182422 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Nrep neuronal regeneration related protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr18:26,183,753...26,212,796
Ensembl chr18:26,185,259...26,211,445
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IEP protein:increased expression:liver (rat) RGD PMID:24663492 RGD:12453042 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Otc ornithine carbamoyltransferase IEP protein:increased expression:serum (rat) RGD PMID:18823438 RGD:4144061 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO RGD PMID:21756965 RGD:25440484 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Plau plasminogen activator, urokinase ISS OMIM:228100 MouseDO NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Plin2 perilipin 2 ISO associated with Obesity
CTD Direct Evidence: marker/mechanism
CTD PMID:16439473, PMID:17484887 RGD:1625752 NCBI chr 5:104,984,413...105,010,863
Ensembl chr 5:104,984,414...105,010,857
JBrowse link
G Pnpla3 patatin-like phospholipase domain containing 3 severity ISO CTD Direct Evidence: marker/mechanism
associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human)
associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
CTD PMID:25678388, PMID:25284145, PMID:25678388, PMID:21319195, PMID:23564580 RGD:14981590, RGD:11055420, RGD:14981585, RGD:14981583 NCBI chr 7:125,034,760...125,056,165
Ensembl chr 7:125,034,764...125,055,976
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:167377 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26945512 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO
IEP
associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice
associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human)
CTD Direct Evidence: therapeutic
CTD PMID:19124612, PMID:21929649, PMID:16393287 RGD:5509939, RGD:15042851 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23851158 NCBI chr20:7,818,289...7,883,482
Ensembl chr20:7,818,289...7,885,333
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP RGD PMID:15112352 RGD:1580685 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IDA
IEP
ISO
protein:decreased methylation:liver (rat) RGD PMID:23274094, PMID:22521344, PMID:23174781 RGD:7241844, RGD:7242179, RGD:7242012 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO RGD PMID:19162361 RGD:6484544 NCBI chr 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Prkcd protein kinase C, delta ISO RGD PMID:17596878 RGD:1642523 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 2:211,050,344...211,073,706
Ensembl chr 2:211,050,360...211,073,714
JBrowse link
G Pten phosphatase and tensin homolog IEP
ISO
protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:27022031, PMID:18166358, PMID:15199412 RGD:2292522, RGD:1302555 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP mRNA,protein:increased expression:liver RGD PMID:21643627 RGD:5135028 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: therapeutic CTD PMID:15885234 NCBI chr 9:93,545,396...93,549,436
Ensembl chr 9:93,545,396...93,549,436
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit IDA RGD PMID:21643627 RGD:5135028 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:26769846 NCBI chr15:34,470,796...34,479,741
Ensembl chr15:34,470,796...34,479,741
JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: therapeutic CTD PMID:21661758 NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
JBrowse link
G Serpina6 serpin family A member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 6:127,523,948...127,534,178
Ensembl chr 6:127,523,906...127,534,247
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190, PMID:29684222 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Shc1 SHC adaptor protein 1 ISO associated with Obesity RGD PMID:17596878 RGD:1642523 NCBI chr 2:188,745,503...188,757,066
Ensembl chr 2:188,745,503...188,757,066
JBrowse link
G Sirt1 sirtuin 1 ISO associated with Obesity
CTD Direct Evidence: marker/mechanism|therapeutic
CTD PMID:21321189, PMID:23834033, PMID:24184811, PMID:24210820, PMID:24442997, PMID:21540183 RGD:9585751 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Sirt6 sirtuin 6 ISO CTD Direct Evidence: therapeutic CTD PMID:28536482 NCBI chr 7:10,937,622...10,943,048
Ensembl chr 7:10,937,599...10,943,063
JBrowse link
G Sirt7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24210820 NCBI chr10:109,796,046...109,802,821
Ensembl chr10:109,796,020...109,802,739
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26303333 NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Slc22a8 solute carrier family 22 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25226513 NCBI chr 1:224,799,444...224,818,482
Ensembl chr 1:224,800,252...224,818,482
JBrowse link
G Slc27a4 solute carrier family 27 member 4 IEP mRNA, protein:increased expression RGD PMID:16248953 RGD:1625640 NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12048068 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 IEP RGD PMID:16139386 RGD:1598602 NCBI chr 4:175,969,549...176,026,227
Ensembl chr 4:175,969,549...176,026,163
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO associated with Obesity RGD PMID:15240880 RGD:1625677 NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27349771 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10860543 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24469900 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16799967 RGD:25671424 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: therapeutic CTD PMID:24497646 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link
G Suox sulfite oxidase IEP protein:decreased expression:liver RGD PMID:15144217 RGD:1600114 NCBI chr 7:3,098,228...3,102,179
Ensembl chr 7:3,098,245...3,102,142
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008134, PMID:21907177 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641190, PMID:27022031 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348005 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Txn1 thioredoxin 1 IEP RGD PMID:18578693 RGD:2306156 NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
JBrowse link
G Ucp2 uncoupling protein 2 IEP
ISO
mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
CTD PMID:10860543, PMID:21114362 RGD:7204423 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:30905785, PMID:30905785 RGD:14402029, RGD:14402029 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097666 NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
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:2334213, PMID:10069709, PMID:10581036, PMID:10947946, PMID:11992753, PMID:12121352, PMID:12359136, PMID:12794687, PMID:12794688, PMID:15510212, PMID:15516337, PMID:15805149, PMID:16170568, PMID:18695252, PMID:19557856, PMID:20301643, PMID:21781115, PMID:24767253, PMID:24993898, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
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:11528398, PMID:12497639, PMID:20175955, PMID:21708040, PMID:24005727, PMID:25182749, PMID:25741868, PMID:28492532 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
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:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO DNA:nonsense mutation:cds: (human)
ClinVar Annotator: match by term: Fucosidosis
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:230000
ClinVar
OMIM
PMID:1214294, PMID:1281988, PMID:2012122, PMID:2642067, PMID:2803224, PMID:7815431, PMID:8097260, PMID:8401503, PMID:8504303, PMID:8739734, PMID:9039984, PMID:9762612, PMID:10094192, PMID:17427030, PMID:23210910, PMID:24033266, PMID:25741868, PMID:26515723, PMID:28492532, PMID:2642067 RGD:1598969 NCBI chr 5:154,269,296...154,286,545
Ensembl chr 5:154,269,118...154,286,544
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, late infantile
ClinVar Annotator: match by term: Galactosialidosis, adult
ClinVar Annotator: match by OMIM:256540
OMIM
ClinVar
PMID:1756715, PMID:2148053, PMID:3149149, PMID:8514852, PMID:8968752, PMID:9603439, PMID:10333491, PMID:10944848, PMID:12649068, PMID:15110321, PMID:16538002, PMID:22386972, PMID:23806086, PMID:23915561, PMID:24033266, PMID:24088042, PMID:24769197, PMID:24779613, PMID:25741868, PMID:26259553, PMID:28492532, PMID:28603679 NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
JBrowse link
G Neurl2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Galactosialidosis ClinVar NCBI chr 3:161,296,303...161,299,024
Ensembl chr 3:161,296,304...161,299,024
JBrowse link
G Pltp phospholipid transfer protein ISO ClinVar Annotator: match by term: Galactosialidosis ClinVar NCBI chr 3:161,304,469...161,322,289
Ensembl chr 3:161,304,469...161,322,289
JBrowse link
Gaucher Disease, Type IIIc term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC OMIM
ClinVar
PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7789963, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8790604, PMID:8829654, PMID:8929950, PMID:9040001, PMID:9153297, PMID:9279145, PMID:9375849, PMID:9554746, PMID:10079102, PMID:10466427, PMID:10636167, PMID:10649495, PMID:10757640, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12595585, PMID:12838552, PMID:14757438, PMID:15146461, PMID:15605411, PMID:16061944, PMID:16086325, PMID:16293621, PMID:16981045, PMID:17395504, PMID:17427031, PMID:17620502, PMID:18022370, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20004867, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20846888, PMID:20947659, PMID:20980259, PMID:21056933, PMID:21106416, PMID:21257328, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22387070, PMID:22451204, PMID:22592100, PMID:22713811, PMID:22968580, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23676350, PMID:23719189, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25127542, PMID:25249066, PMID:25456120, PMID:25535748, PMID:25653295, PMID:25732996, PMID:25741868, PMID:25946768, PMID:26043810, PMID:26096741, PMID:26117366, PMID:26709268, PMID:26743617, PMID:26868973, PMID:26905200, PMID:27094865, PMID:27123474, PMID:27312774, PMID:27682613, PMID:27717005, PMID:27825739, PMID:27865684, PMID:27872820, PMID:28492532, PMID:28686011, PMID:28779532, PMID:28923368, PMID:29527153, PMID:30311386, PMID:30382391, PMID:30497978, PMID:30662625, PMID:31077260 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Chit1 chitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17464953 NCBI chr13:50,947,020...50,994,644
Ensembl chr13:50,974,872...50,994,643
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Gaucher disease
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar Annotator: match by term: Kerasin thesaurismosis
ClinVar Annotator: match by term: GBA DEFICIENCY
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gaucher Disease, Type 3
DNA:mutations:cds, intron:multiple (human)
DNA:missense mutations, deletion:cds:multiple (human)
ClinVar Annotator: match by null
ClinVar
CTD
PMID:1301953, PMID:1348297, PMID:1415223, PMID:1487244, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1840477, PMID:1864608, PMID:1897529, PMID:1899336, PMID:1961718, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3180993, PMID:3353383, PMID:7475546, PMID:7500895, PMID:7627184, PMID:7655857, PMID:7694727, PMID:7789963, PMID:7916532, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8432537, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8547070, PMID:8733893, PMID:8774051, PMID:8790604, PMID:8829654, PMID:8889578, PMID:8929950, PMID:9040001, PMID:9101438, PMID:9153297, PMID:9182788, PMID:9240741, PMID:9279145, PMID:9295080, PMID:9375849, PMID:9497856, PMID:9516376, PMID:9554454, PMID:9554746, PMID:9683600, PMID:9856561, PMID:10079102, PMID:10352942, PMID:10369158, PMID:10466427, PMID:10636167, PMID:10649495, PMID:10679038, PMID:10685993, PMID:10744424, PMID:10757640, PMID:10777718, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11406344, PMID:11600137, PMID:11783951, PMID:11903352, PMID:11933202, PMID:11992489, PMID:12000368, PMID:12204005, PMID:12359135, PMID:12476451, PMID:12587096, PMID:12595585, PMID:12667990, PMID:12694238, PMID:12734541, PMID:12791040, PMID:12838552, PMID:12972024, PMID:14509164, PMID:14728994, PMID:14757438, PMID:14994233, PMID:15146461, PMID:15214004, PMID:15276648, PMID:15329082, PMID:15605411, PMID:15690354, PMID:15916907, PMID:15943874, PMID:15954102, PMID:15967693, PMID:16061944, PMID:16086325, PMID:16185900, PMID:16185907, PMID:16293621, PMID:16326120, PMID:16329099, PMID:16546416, PMID:16981045, PMID:17059888, PMID:17395504, PMID:17427031, PMID:17560820, PMID:17574891, PMID:17620502, PMID:17689991, PMID:17803231, PMID:18022370, PMID:18030725, PMID:18160183, PMID:18160322, PMID:18332251, PMID:18338393, PMID:18429048, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19026343, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19459886, PMID:19513999, PMID:19816973, PMID:19846850, PMID:20004867, PMID:20629126, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20846888, PMID:20880730, PMID:20946052, PMID:20947659, PMID:20980259, PMID:21056933, PMID:21106416, PMID:21250698, PMID:21257328, PMID:21370884, PMID:21384230, PMID:21445609, PMID:21455010, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:21779299, PMID:21796727, PMID:21823541, PMID:21831682, PMID:21982627, PMID:22112991, PMID:22118943, PMID:22160715, PMID:22173904, PMID:22192918, PMID:22220748, PMID:22227325, PMID:22234757, PMID:22247978, PMID:22344629, PMID:22350617, PMID:22375149, PMID:22387070, PMID:22429443, PMID:22451204, PMID:22526844, PMID:22592100, PMID:22623374, PMID:22658918, PMID:22713811, PMID:22791670, PMID:22812582, PMID:22884962, PMID:22968580, PMID:23035075, PMID:23056756, PMID:23225227, PMID:23332636, PMID:23386328, PMID:23426826, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23635853, PMID:23676350, PMID:23699752, PMID:23719189, PMID:23757202, PMID:23811968, PMID:23936319, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24278166, PMID:24313877, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:24801745, PMID:24904648, PMID:25084554, PMID:25127542, PMID:25249066, PMID:25326392, PMID:25435509, PMID:25456120, PMID:25482214, PMID:25535748, PMID:25558695, PMID:25637381, PMID:25653295, PMID:25732996, PMID:25741868, PMID:25829804, PMID:25933391, PMID:25946768, PMID:26000814, PMID:26027833, PMID:26043810, PMID:26096741, PMID:26117366, PMID:26220978, PMID:26296077, PMID:26709268, PMID:26743617, PMID:26756743, PMID:26847548, PMID:26868973, PMID:26905200, PMID:27008195, PMID:27008851, PMID:27094865, PMID:27123474, PMID:27123476, PMID:27136700, PMID:27153395, PMID:27222815, PMID:27312774, PMID:27397011, PMID:27571329, PMID:27682613, PMID:27717005, PMID:27735925, PMID:27825739, PMID:27864021, PMID:27865684, PMID:27872820, PMID:27922757, PMID:28034821, PMID:28492532, PMID:28506293, PMID:28686011, PMID:28727984, PMID:28749476, PMID:28779532, PMID:28923368, PMID:28944235, PMID:28947706, PMID:29091352, PMID:29140481, PMID:29423829, PMID:29527153, PMID:29602947, PMID:29656334, PMID:29685539, PMID:29948939, PMID:29980418, PMID:30115580, PMID:30302829, PMID:30311386, PMID:30328501, PMID:30382391, PMID:30461613, PMID:30497978, PMID:30528841, PMID:30537300, PMID:30637984, PMID:30662625, PMID:30764785, PMID:30777654, PMID:30949558, PMID:31077260, PMID:84325327, PMID:21112800, PMID:17059888, PMID:18586596, PMID:21252206 RGD:5508423, RGD:12791018, RGD:12791017, RGD:5508431 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:lung RGD PMID:21223590 RGD:5128511 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:repeats:intron:IVS11+?(ATT)5 (human) RGD PMID:9677056 RGD:11535995 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576930 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:15919211 RGD:12904037 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Gaucher's disease perinatal lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Gaucher disease, perinatal lethal
ClinVar Annotator: match by term: Gaucher disease collodion type
OMIM
ClinVar
PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2502917, PMID:2508065, PMID:2569551, PMID:3180993, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7789963, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8432537, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8751878, PMID:8790604, PMID:9040001, PMID:9153297, PMID:9279145, PMID:9554746, PMID:10079102, PMID:10352942, PMID:10636167, PMID:10649495, PMID:10685993, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12595585, PMID:12791040, PMID:12838552, PMID:14757438, PMID:15146461, PMID:15214004, PMID:16061944, PMID:16293621, PMID:16546416, PMID:17059888, PMID:17395504, PMID:17427031, PMID:17560820, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20947659, PMID:20980259, PMID:21257328, PMID:21384230, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:21779299, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22234757, PMID:22375149, PMID:22451204, PMID:22526844, PMID:22592100, PMID:22658918, PMID:22968580, PMID:23430873, PMID:23588557, PMID:23676350, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25127542, PMID:25249066, PMID:25435509, PMID:25456120, PMID:25653295, PMID:25741868, PMID:25946768, PMID:26096741, PMID:26117366, PMID:26868973, PMID:26905200, PMID:27008851, PMID:27123476, PMID:27222815, PMID:27312774, PMID:27682613, PMID:27717005, PMID:28492532, PMID:28727984, PMID:28779532, PMID:28923368, PMID:29091352, PMID:29527153, PMID:30311386, PMID:30328501, PMID:30764785 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
Gaucher's disease type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD I
ClinVar Annotator: match by term: Gaucher's disease, type 1
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency
ClinVar Annotator: match by term: Gaucher Disease, Type 1
ClinVar Annotator: match by term: Gaucher disease, type I
ClinVar
OMIM
PMID:1301953, PMID:1348297, PMID:1415223, PMID:1487244, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1840477, PMID:1864608, PMID:1897529, PMID:1899336, PMID:1961718, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2349952, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3180993, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7655857, PMID:7694727, PMID:7789963, PMID:7916532, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8432537, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8790604, PMID:8829654, PMID:8889578, PMID:8929950, PMID:9040001, PMID:9153297, PMID:9182788, PMID:9240741, PMID:9279145, PMID:9295080, PMID:9375849, PMID:9516376, PMID:9554746, PMID:9683600, PMID:10079102, PMID:10340647, PMID:10352942, PMID:10369158, PMID:10466427, PMID:10636167, PMID:10649495, PMID:10679038, PMID:10685993, PMID:10744424, PMID:10757640, PMID:10777718, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11406344, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12476451, PMID:12587096, PMID:12595585, PMID:12791040, PMID:12838552, PMID:12972024, PMID:14728994, PMID:14757438, PMID:14994233, PMID:15146461, PMID:15214004, PMID:15276648, PMID:15605411, PMID:15690354, PMID:15943874, PMID:15954102, PMID:16061944, PMID:16086325, PMID:16185900, PMID:16293621, PMID:16329099, PMID:16546416, PMID:16981045, PMID:17059888, PMID:17395504, PMID:17427031, PMID:17560820, PMID:17574891, PMID:17620502, PMID:17689991, PMID:18022370, PMID:18030725, PMID:18332251, PMID:18338393, PMID:18429048, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19026343, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19394250, PMID:19459886, PMID:19513999, PMID:19816973, PMID:19846850, PMID:20004867, PMID:20629126, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20846888, PMID:20880730, PMID:20946052, PMID:20947659, PMID:20980259, PMID:21056933, PMID:21106416, PMID:21257328, PMID:21384230, PMID:21445609, PMID:21455010, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:21779299, PMID:21823541, PMID:21982627, PMID:22112991, PMID:22160715, PMID:22173904, PMID:22192918, PMID:22220748, PMID:22234757, PMID:22247978, PMID:22375149, PMID:22387070, PMID:22429443, PMID:22451204, PMID:22493294, PMID:22526844, PMID:22592100, PMID:22623374, PMID:22658918, PMID:22713811, PMID:22812582, PMID:22968580, PMID:23056756, PMID:23332636, PMID:23386328, PMID:23426826, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23635853, PMID:23676350, PMID:23699752, PMID:23719189, PMID:23757202, PMID:23811968, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24278166, PMID:24313877, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:24801745, PMID:25084554, PMID:25127542, PMID:25249066, PMID:25435509, PMID:25456120, PMID:25535748, PMID:25558695, PMID:25653295, PMID:25732996, PMID:25741868, PMID:25829804, PMID:25933391, PMID:25946768, PMID:26043810, PMID:26096741, PMID:26117366, PMID:26220978, PMID:26709268, PMID:26743617, PMID:26756743, PMID:26847548, PMID:26868973, PMID:26905200, PMID:27008851, PMID:27094865, PMID:27123474, PMID:27123476, PMID:27136700, PMID:27222815, PMID:27312774, PMID:27682613, PMID:27717005, PMID:27735925, PMID:27825739, PMID:27864021, PMID:27865684, PMID:27872820, PMID:27922757, PMID:28492532, PMID:28506293, PMID:28686011, PMID:28727984, PMID:28779532, PMID:28923368, PMID:28947706, PMID:29091352, PMID:29140481, PMID:29527153, PMID:29602947, PMID:29685539, PMID:30115580, PMID:30311386, PMID:30328501, PMID:30382391, PMID:30497978, PMID:30528841, PMID:30537300, PMID:30637984, PMID:30662625, PMID:30764785, PMID:30949558, PMID:31077260, PMID:84325327 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: GD I ClinVar PMID:22493294 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
Gaucher's disease type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD II
ClinVar Annotator: match by term: Acute cerebral Gaucher disease
ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type
ClinVar
OMIM
PMID:1301953, PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1840477, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7789963, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8774051, PMID:8790604, PMID:8829654, PMID:8929950, PMID:9040001, PMID:9153297, PMID:9279145, PMID:9375849, PMID:9554746, PMID:10079102, PMID:10466427, PMID:10636167, PMID:10649495, PMID:10757640, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12595585, PMID:12694238, PMID:12734541, PMID:12838552, PMID:14757438, PMID:15146461, PMID:15276648, PMID:15605411, PMID:15954102, PMID:16061944, PMID:16086325, PMID:16293621, PMID:16981045, PMID:17395504, PMID:17427031, PMID:17620502, PMID:17689991, PMID:18022370, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20004867, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20846888, PMID:20947659, PMID:20980259, PMID:21056933, PMID:21106416, PMID:21257328, PMID:21445609, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:21982627, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22387070, PMID:22451204, PMID:22592100, PMID:22713811, PMID:22968580, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23676350, PMID:23719189, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25127542, PMID:25249066, PMID:25435509, PMID:25456120, PMID:25535748, PMID:25653295, PMID:25732996, PMID:25741868, PMID:25946768, PMID:26043810, PMID:26096741, PMID:26117366, PMID:26709268, PMID:26743617, PMID:26868973, PMID:26905200, PMID:27094865, PMID:27123474, PMID:27312774, PMID:27682613, PMID:27717005, PMID:27825739, PMID:27865684, PMID:27872820, PMID:28492532, PMID:28686011, PMID:28727984, PMID:28779532, PMID:28923368, PMID:29140481, PMID:29527153, PMID:29685539, PMID:30311386, PMID:30382391, PMID:30497978, PMID:30528841, PMID:30537300, PMID:30662625, PMID:30764785, PMID:30949558, PMID:31077260 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
Gaucher's disease type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GD III
ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type
ClinVar Annotator: match by term: Gaucher Disease, Type 3
ClinVar
OMIM
PMID:1301953, PMID:1348297, PMID:1415223, PMID:1558964, PMID:1589760, PMID:1704891, PMID:1840477, PMID:1897529, PMID:1899336, PMID:1971142, PMID:1972019, PMID:1974409, PMID:2117855, PMID:2269438, PMID:2309702, PMID:2378352, PMID:2464926, PMID:2502917, PMID:2508065, PMID:2569551, PMID:2880291, PMID:3353383, PMID:7475546, PMID:7627184, PMID:7789963, PMID:7981693, PMID:8118463, PMID:8213821, PMID:8294487, PMID:8450045, PMID:8487270, PMID:8516282, PMID:8544197, PMID:8733893, PMID:8790604, PMID:8829654, PMID:8929950, PMID:9040001, PMID:9153297, PMID:9279145, PMID:9375849, PMID:9554746, PMID:9650766, PMID:10079102, PMID:10466427, PMID:10636167, PMID:10649495, PMID:10757640, PMID:10796875, PMID:11148530, PMID:11259172, PMID:11359469, PMID:11783951, PMID:11933202, PMID:11992489, PMID:12204005, PMID:12476451, PMID:12595585, PMID:12838552, PMID:14757438, PMID:15146461, PMID:15276648, PMID:15605411, PMID:15954102, PMID:16061944, PMID:16086325, PMID:16293621, PMID:16981045, PMID:17395504, PMID:17427031, PMID:17620502, PMID:17689991, PMID:18022370, PMID:18332251, PMID:18338393, PMID:18434642, PMID:18541817, PMID:18586596, PMID:18979180, PMID:18987351, PMID:19217815, PMID:19260119, PMID:19286695, PMID:19816973, PMID:19846850, PMID:20004867, PMID:20662857, PMID:20729108, PMID:20816920, PMID:20846888, PMID:20947659, PMID:20980259, PMID:21056933, PMID:21106416, PMID:21257328, PMID:21472771, PMID:21704274, PMID:21742527, PMID:21745757, PMID:22160715, PMID:22192918, PMID:22220748, PMID:22387070, PMID:22451204, PMID:22592100, PMID:22713811, PMID:22968580, PMID:23430543, PMID:23430873, PMID:23448517, PMID:23588557, PMID:23676350, PMID:23719189, PMID:24020503, PMID:24022302, PMID:24033266, PMID:24126159, PMID:24482953, PMID:24522292, PMID:24685312, PMID:24756352, PMID:25127542, PMID:25249066, PMID:25456120, PMID:25535748, PMID:25653295, PMID:25732996, PMID:25741868, PMID:25946768, PMID:26043810, PMID:26096741, PMID:26117366, PMID:26709268, PMID:26743617, PMID:26868973, PMID:26905200, PMID:27094865, PMID:27123474, PMID:27312774, PMID:27682613, PMID:27717005, PMID:27825739, PMID:27865684, PMID:27872820, PMID:28492532, PMID:28686011, PMID:28779532, PMID:28923368, PMID:29140481, PMID:29527153, PMID:29685539, PMID:30311386, PMID:30382391, PMID:30497978, PMID:30537300, PMID:30662625, PMID:30764785, PMID:30949558, PMID:31077260 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
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 containing 40 ISO ClinVar Annotator: match by term: Glycogen storage disease, type II ClinVar PMID:18414213, PMID:23757202, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Glycogen storage disease, type II
ClinVar Annotator: match by term: Alpha-1,4-glucosidase deficiency
ClinVar Annotator: match by OMIM:232300
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
OMIM
ClinVar
CTD
PMID:1109266, PMID:1652892, PMID:1856189, PMID:1862843, PMID:1895140, PMID:1898413, PMID:2111708, PMID:2203258, PMID:2252923, PMID:2510307, PMID:3049072, PMID:3132435, PMID:5614309, PMID:7603530, PMID:7695647, PMID:7717400, PMID:7881422, PMID:7881425, PMID:7945303, PMID:7981676, PMID:8094613, PMID:8401535, PMID:8429042, PMID:8435067, PMID:8558570, PMID:8604985, PMID:8834250, PMID:8912788, PMID:8935410, PMID:8990003, PMID:9196050, PMID:9259196, PMID:9266392, PMID:9425285, PMID:9521422, PMID:9529346, PMID:9535769, PMID:9554747, PMID:9660056, PMID:9950376, PMID:10189220, PMID:10206684, PMID:10338092, PMID:10377006, PMID:10528311, PMID:10737124, PMID:11053688, PMID:11071489, PMID:11328962, PMID:11343339, PMID:11738358, PMID:11854868, PMID:11927738, PMID:11949932, PMID:12213618, PMID:12601120, PMID:12897283, PMID:12923862, PMID:14643388, PMID:14695532, PMID:14972326, PMID:15048888, PMID:15121988, PMID:15145338, PMID:15366815, PMID:15466083, PMID:15501829, PMID:15668445, PMID:15985590, PMID:15986226, PMID:16433701, PMID:16478160, PMID:16531044, PMID:16580018, PMID:16702877, PMID:16737883, PMID:16782080, PMID:16838077, PMID:16857770, PMID:16860134, PMID:16917947, PMID:17027861, PMID:17041744, PMID:17056254, PMID:17092519, PMID:17151339, PMID:17210890, PMID:17213836, PMID:17573812, PMID:17616415, PMID:17643989, PMID:17723315, PMID:17805474, PMID:17853454, PMID:17915575, PMID:18176891, PMID:18211760, PMID:18285536, PMID:18301443, PMID:18414213, PMID:18425781, PMID:18429042, PMID:18434155, PMID:18458862, PMID:18495398, PMID:18505979, PMID:18535739, PMID:18607768, PMID:18757064, PMID:18995995, PMID:19046416, PMID:19067231, PMID:19343043, PMID:19472353, PMID:19542901, PMID:19588081, PMID:19609281, PMID:19775921, PMID:19790257, PMID:19862843, PMID:19948615, PMID:20033296, PMID:20080426, PMID:20202878, PMID:20301438, PMID:20308911, PMID:20472203, PMID:20559845, PMID:20638881, PMID:20817528, PMID:20826098, PMID:20830524, PMID:21039225, PMID:21109266, PMID:21179066, PMID:21216089, PMID:21228398, PMID:21232767, PMID:21439876, PMID:21471980, PMID:21484825, PMID:21488291, PMID:21488292, PMID:21550241, PMID:21605996, PMID:21631931, PMID:21637107, PMID:21644219, PMID:21676566, PMID:21687968, PMID:21704464, PMID:21757382, PMID:21803581, PMID:21889385, PMID:21920843, PMID:21926084, PMID:21940687, PMID:21963784, PMID:21972175, PMID:21982629, PMID:21984055, PMID:22027144, PMID:22081099, PMID:22194990, PMID:22196155, PMID:22237443, PMID:22252923, PMID:22253258, PMID:22521436, PMID:22538254, PMID:22555271, PMID:22595200, PMID:22613277, PMID:22644586, PMID:22658377, PMID:22676651, PMID:22704482, PMID:22711147, PMID:22791670, PMID:22958975, PMID:22980766, PMID:22990675, PMID:23000108, PMID:23013746, PMID:23062590, PMID:23146291, PMID:23147228, PMID:23160972, PMID:23266370, PMID:23350563, PMID:23402890, PMID:23418865, PMID:23430493, PMID:23430847, PMID:23430912, PMID:23430949, PMID:23463700, PMID:23531252, PMID:23566438, PMID:23601496, PMID:23632029, PMID:23632174, PMID:23668440, PMID:23757202, PMID:23787031, PMID:23825616, PMID:23843830, PMID:23884227, PMID:24008051, PMID:24008937, PMID:24011652, PMID:24016645, PMID:24027232, PMID:24033266, PMID:24107549, PMID:24150945, PMID:24158270, PMID:24169249, PMID:24190153, PMID:24215330, PMID:24245577, PMID:24269976, PMID:24273659, PMID:24337590, PMID:24338761, PMID:24383498, PMID:24384324, PMID:24395639, PMID:24444888, PMID:24495340, PMID:24513544, PMID:24590251, PMID:24627108, PMID:24715333, PMID:24844452, PMID:24872213, PMID:24923245, PMID:24976573, PMID:25026126, PMID:25036864, PMID:25037089, PMID:25052852, PMID:25093132, PMID:25103075, PMID:25139343, PMID:25155446, PMID:25213570, PMID:25243733, PMID:25326635, PMID:25356970, PMID:25388776, PMID:25396301, PMID:25409744, PMID:25451853, PMID:25455803, PMID:25466677, PMID:25488666, PMID:25525159, PMID:25526786, PMID:25544546, PMID:25612604, PMID:25614309, PMID:25626711, PMID:25673129, PMID:25681614, PMID:25687635, PMID:25703594, PMID:25712382, PMID:25741864, PMID:25741868, PMID:25752415, PMID:25783438, PMID:25786784, PMID:25846667, PMID:25998610, PMID:26031770, PMID:26160551, PMID:26167453, PMID:26199952, PMID:26231297, PMID:26253708, PMID:26310554, PMID:26349193, PMID:26497565, PMID:26572913, PMID:26575883, PMID:26693141, PMID:26830551, PMID:26873529, PMID:26946079, PMID:27008195, PMID:27099502, PMID:27142047, PMID:27170567, PMID:27183828, PMID:27189384, PMID:27193587, PMID:27344650, PMID:27363342, PMID:27417441, PMID:27623443, PMID:27649523, PMID:27666774, PMID:27692865, PMID:27708273, PMID:27711114, PMID:27896092, PMID:27927596, PMID:28032299, PMID:28182897, PMID:28196920, PMID:28394184, PMID:28433475, PMID:28450385, PMID:28490439, PMID:28492532, PMID:28592009, PMID:28600779, PMID:28648663, PMID:28657663, PMID:28763149, PMID:28838325, PMID:28957316, PMID:29044175, PMID:29046207, PMID:29061980, PMID:29122469, PMID:29124014, PMID:29143201, PMID:29149851, PMID:29181627, PMID:29205646, PMID:29289479, PMID:29422078, PMID:29428273, PMID:29451150, PMID:29573408, PMID:29637184, PMID:29653542, PMID:29869463, PMID:30023291, PMID:30049495, PMID:30105547, PMID:30155607, PMID:30214072, PMID:30311386, PMID:30442156, PMID:30510819, PMID:30564623, PMID:30595407, PMID:31076647, PMID:31086307, PMID:31193175, PMID:31254424, PMID:31342611, PMID:31467850, PMID:31510962, PMID:31743840, PMID:32012848, PMID:32317649, PMID:32860008 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:26787432 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
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:27662472, PMID:28492532 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: I cell disease
ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta
ClinVar PMID:15633164, PMID:16094673, PMID:16116615, PMID:16200072, PMID:16465621, PMID:16630736, PMID:18190596, PMID:19197337, PMID:19617216, PMID:19634183, PMID:19659762, PMID:19938078, PMID:20147709, PMID:20301728, PMID:20886637, PMID:21416587, PMID:21549105, PMID:23192343, PMID:23566849, PMID:23926388, PMID:24045841, PMID:24375680, PMID:24550498, PMID:24767253, PMID:25107912, PMID:25505245, PMID:25525159, PMID:25741868, PMID:26130485, PMID:26749367, PMID:27180337, PMID:27662472, PMID:27710913, PMID:28095893, PMID:28492532, PMID:29704188, PMID:29872134, PMID:30311386 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC RGD PMID:10712439 RGD:1599045 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Mcoln1 mucolipin 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Neu1 neuraminidase 1 ISS
ISO
OMIM:256550
ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME
MouseDO
ClinVar
PMID:9054950, PMID:10767332, PMID:11063730, PMID:11279074, PMID:11470272, PMID:11702224, PMID:11829139, PMID:14695530, PMID:15908988, PMID:16712870, PMID:19568825, PMID:24808020, PMID:25153125, PMID:25741868, PMID:26141460, PMID:28492532, PMID:30023283 NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
GM1 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Beta-galactosidase-1 deficiency ClinVar PMID:25326637, PMID:28492532 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Glb1 galactosidase, beta 1 treatment ISO ClinVar Annotator: match by term: GM1 gangliosidosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GM1 gangliosidosis type 2
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:230500
ClinVar
CTD
PMID:1487238, PMID:1907800, PMID:1909089, PMID:1928092, PMID:7586649, PMID:8068159, PMID:8112731, PMID:8213816, PMID:8500799, PMID:8652017, PMID:9203065, PMID:10338095, PMID:10737981, PMID:10839995, PMID:10841810, PMID:11504597, PMID:11511921, PMID:12644936, PMID:15365997, PMID:15714521, PMID:15943552, PMID:15986423, PMID:16314480, PMID:16538002, PMID:16617000, PMID:16626397, PMID:16674934, PMID:16941474, PMID:17221873, PMID:17309651, PMID:17664528, PMID:18524657, PMID:19472408, PMID:20175788, PMID:21214877, PMID:21497194, PMID:21520340, PMID:21637542, PMID:22128166, PMID:22675082, PMID:23151865, PMID:23337983, PMID:23430499, PMID:24033266, PMID:24156116, PMID:25443580, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26108645, PMID:26169295, PMID:26646981, PMID:26990548, PMID:28492532, PMID:28554332, PMID:28716012, PMID:28976722, PMID:29352662, PMID:29439846, PMID:30267299, PMID:30311386, PMID:30548430, PMID:30555092, PMID:30809705, PMID:10737981, PMID:25964428, PMID:17309651 RGD:1598983, RGD:11086251, RGD:12910453 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis
ClinVar Annotator: match by term: GLB1 DEFICIENCY
ClinVar PMID:16941474, PMID:25741868 NCBI chr 8:122,439,679...122,447,208 JBrowse link
GM1 gangliosidosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 ClinVar PMID:25326637, PMID:28492532 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, UMLS MESH term: Gm1 Gangliosidosis, Type I, with Cardiac Involvement
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement
ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1
ClinVar Annotator: match by term: Gm1-gangliosidosis, type I, with cardiac involvement
ClinVar
OMIM
PMID:1487238, PMID:1606711, PMID:1907800, PMID:1909089, PMID:1928092, PMID:7586649, PMID:8068159, PMID:8112731, PMID:8198123, PMID:8199591, PMID:8213816, PMID:8500799, PMID:8652017, PMID:8922281, PMID:9203065, PMID:10338095, PMID:10737981, PMID:10841810, PMID:11511921, PMID:12644936, PMID:15365997, PMID:15714521, PMID:15943552, PMID:15986423, PMID:16617000, PMID:16626397, PMID:16941474, PMID:17221873, PMID:17309651, PMID:17664528, PMID:18524657, PMID:19472408, PMID:20175788, PMID:21497194, PMID:21520340, PMID:22128166, PMID:22371915, PMID:23337983, PMID:23430499, PMID:23430803, PMID:24156116, PMID:24767253, PMID:25326635, PMID:25443580, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26169295, PMID:26646981, PMID:28332257, PMID:28492532, PMID:28554332, PMID:28716012, PMID:28976722, PMID:29160035, PMID:29439846, PMID:30267299, PMID:30311386, PMID:30548430, PMID:30809705 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 ClinVar PMID:8198123, PMID:8199591, PMID:21497194, PMID:25741868, PMID:28492532, PMID:29160035 NCBI chr 8:122,439,679...122,447,208 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
ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, juvenile type
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 2
ClinVar
OMIM
PMID:1353343, PMID:1606711, PMID:1907800, PMID:1909089, PMID:6791574, PMID:7586649, PMID:8068159, PMID:8112731, PMID:8198123, PMID:8213816, PMID:8652017, PMID:8922281, PMID:9203065, PMID:10338095, PMID:10737981, PMID:10744681, PMID:10839995, PMID:10841810, PMID:11504597, PMID:11511921, PMID:12393180, PMID:12644936, PMID:15365997, PMID:15714521, PMID:15986423, PMID:16314480, PMID:16538002, PMID:16617000, PMID:16626397, PMID:16674934, PMID:16941474, PMID:17221873, PMID:17309651, PMID:17661814, PMID:17664528, PMID:18524657, PMID:18571950, PMID:19472408, PMID:19644515, PMID:20175788, PMID:20920281, PMID:21214877, PMID:21497194, PMID:21520340, PMID:22128166, PMID:22675082, PMID:23046582, PMID:23151865, PMID:23337983, PMID:23430499, PMID:23430803, PMID:23831247, PMID:24033266, PMID:24156116, PMID:24767253, PMID:24777551, PMID:25326635, PMID:25326637, PMID:25443580, PMID:25525159, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26108645, PMID:26169295, PMID:26646981, PMID:26766614, PMID:26990548, PMID:27679996, PMID:27750150, PMID:28332257, PMID:28492532, PMID:28554332, PMID:28716012, PMID:28976722, PMID:29352662, PMID:29439846, PMID:29451896, PMID:30267299, PMID:30311386, PMID:30548430, PMID:30675867 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 2 ClinVar NCBI chr 8:122,439,679...122,447,208 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: Gangliosidosis, Generalized GM1, Type 3
ClinVar Annotator: match by term: GM1 gangliosidosis type 3
ClinVar Annotator: match by term: Gangliosidosis GM1 type 3
OMIM
ClinVar
PMID:1353343, PMID:1907800, PMID:1909089, PMID:6791574, PMID:8068159, PMID:8112731, PMID:8198123, PMID:8213816, PMID:8652017, PMID:9203065, PMID:10338095, PMID:10737981, PMID:11511921, PMID:12644936, PMID:15714521, PMID:16617000, PMID:16626397, PMID:16941474, PMID:17309651, PMID:17664528, PMID:19472408, PMID:19644515, PMID:20175788, PMID:21520340, PMID:22128166, PMID:23337983, PMID:23430499, PMID:25326637, PMID:25443580, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26646981, PMID:26766614, PMID:28492532, PMID:28554332, PMID:28716012, PMID:29439846, PMID:30311386 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
GM2 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chr10:40,438,394...40,450,927
Ensembl chr10:40,438,356...40,450,930
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696, PMID:1833974, PMID:7717398, PMID:7827134, PMID:8490625, PMID:22789865, PMID:28492532 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
ClinVar Annotator: match by OMIM:272750
OMIM
ClinVar
PMID:174379, PMID:1570834, PMID:1915858, PMID:8244332, PMID:8900233, PMID:10364519, PMID:25558065, PMID:25741868, PMID:26203402, PMID:28492532 NCBI chr10:40,438,394...40,450,927
Ensembl chr10:40,438,356...40,450,930
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:2294750, PMID:2824459, PMID:2848800, PMID:3754980, PMID:8230592, PMID:8352284, PMID:8488832, PMID:8490625, PMID:9073025, PMID:10571007, PMID:11463833, PMID:12108829, PMID:14727180, PMID:15714079, PMID:16088929, PMID:16199656, PMID:16352452, PMID:17412732, PMID:18358410, PMID:19330222, PMID:19858779, PMID:20301397, PMID:20672374, PMID:21228398, PMID:22025593, PMID:22441121, PMID:22723944, PMID:22789865, PMID:22975760, PMID:23852624, PMID:24033266, PMID:24374108, PMID:24518553, PMID:24940364, PMID:25287655, PMID:25557439, PMID:25741868, PMID:27033294, PMID:27896118, PMID:27959697, PMID:28492532, PMID:28503624 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
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-onset ClinVar PMID:1532289, PMID:2145759, PMID:2220809, PMID:2278539, PMID:2522660, PMID:2522679, PMID:8328462, PMID:8343225, PMID:8490625, PMID:10852376, PMID:14566483, PMID:15714079, PMID:16088929, PMID:17015493, PMID:17237499, PMID:18490185, PMID:19815695, PMID:20363167, PMID:22006919, PMID:22789865, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
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, b1 variant ClinVar PMID:1532289 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
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:31155284 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
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: NANA STORAGE DISEASE
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: Infantile Sialic Acid Storage Disease
ClinVar
OMIM
PMID:2010546, PMID:2334213, PMID:6681560, PMID:7151835, PMID:7573152, PMID:10069709, PMID:10581036, PMID:10947946, PMID:11992753, PMID:12121352, PMID:12359136, PMID:12794687, PMID:12794688, PMID:15510212, PMID:15516337, PMID:15805149, PMID:16170568, PMID:18695252, PMID:19146888, PMID:19557856, PMID:20301643, PMID:21781115, PMID:24767253, PMID:24993898, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
JBrowse link
Krabbe disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by OMIM:245200
OMIM
ClinVar
PMID:3362311, PMID:7437911, PMID:7581365, PMID:8281145, PMID:8297359, PMID:8595408, PMID:8634707, PMID:8687180, PMID:8786069, PMID:8940268, PMID:9005874, PMID:9266397, PMID:9272171, PMID:9338580, PMID:9371928, PMID:10234611, PMID:10448809, PMID:10464649, PMID:10477434, PMID:10833326, PMID:11003282, PMID:11151421, PMID:12699861, PMID:16607461, PMID:16759875, PMID:17579360, PMID:17824908, PMID:19302934, PMID:20135576, PMID:20410102, PMID:20886637, PMID:21070211, PMID:21824559, PMID:21876145, PMID:22073273, PMID:22115770, PMID:22520351, PMID:22704718, PMID:23128445, PMID:23138179, PMID:23197103, PMID:23319190, PMID:23430802, PMID:23462331, PMID:23509109, PMID:23620143, PMID:24033266, PMID:24078576, PMID:24252386, PMID:24297913, PMID:24913062, PMID:25260228, PMID:25265039, PMID:25741868, PMID:25956830, PMID:26108647, PMID:26396125, PMID:26539891, PMID:26567009, PMID:26795590, PMID:26865610, PMID:26915362, PMID:27126738, PMID:27238910, PMID:27442402, PMID:27535533, PMID:27638593, PMID:27638604, PMID:27679535, PMID:27779215, PMID:27780934, PMID:27785412, PMID:28492532, PMID:28547031, PMID:28598007, PMID:28600779, PMID:28976722, PMID:29120458, PMID:29286531, PMID:29481565, PMID:29615819, PMID:29951496, PMID:29966168, PMID:30089515, PMID:30202406, PMID:30209698, PMID:30311386, PMID:30609409, PMID:30777126, PMID:31053700, PMID:31185936, PMID:31319225, PMID:32576985, PMID:32860008, PMID:2120388 RGD:38599167 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Psap prosaposin ISO
ISS
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
OMIM:245200
ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell
ClinVar
MouseDO
PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
Krabbe Disease, Atypical, due to Saposin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency
ClinVar Annotator: match by OMIM:611722
OMIM
ClinVar
PMID:15773042, PMID:25741868, PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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 chr12:22,665,128...22,676,079
Ensembl chr12:22,665,112...22,676,075
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952, PMID:16919414 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 4:33,742,876...33,761,106
Ensembl chr 4:33,743,364...33,761,163
JBrowse link
G Depp1 DEPP1, autophagy regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952, PMID:16919414, PMID:17175557 NCBI chr 4:148,780,330...148,784,566
Ensembl chr 4:148,782,479...148,784,562
JBrowse link
G Fabp1 fatty acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952, PMID:16919414 NCBI chr 4:99,063,181...99,066,957
Ensembl chr 4:99,063,181...99,066,954
JBrowse link
G Fads2 fatty acid desaturase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 1:225,906,582...226,152,568
Ensembl chr 1:226,114,413...226,152,524
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952, PMID:16919414, PMID:17175557 NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
JBrowse link
G Hpn hepsin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952, PMID:16919414 NCBI chr 1:89,534,112...89,549,575
Ensembl chr 1:89,534,106...89,543,967
JBrowse link
G Inhbe inhibin subunit beta E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 7:70,641,423...70,642,848
Ensembl chr 7:70,640,075...70,643,169
JBrowse link
G Lss lanosterol synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952, PMID:16919414 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
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 5:151,776,004...151,779,319
Ensembl chr 5:151,776,004...151,779,319
JBrowse link
G Nupr1 nuclear protein 1, transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17175557 NCBI chr 1:194,767,484...194,769,519
Ensembl chr 1:194,767,474...194,769,524
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Scd stearoyl-CoA desaturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21123845 NCBI chr 1:264,159,966...264,173,061
Ensembl chr 1:264,160,129...264,172,729
JBrowse link
G Serpina3m serpin family A member 3M ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952, PMID:16919414, PMID:17175557 NCBI chr 6:127,808,785...127,816,067
Ensembl chr 6:127,808,785...127,816,055
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952, PMID:16919414 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 IEP RGD PMID:17524234 RGD:2308821 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 IEP RGD PMID:17524234 RGD:2308821 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952, PMID:16919414, PMID:17175557 NCBI chr 8:50,222,895...50,228,369
Ensembl chr 8:50,222,896...50,231,357
JBrowse link
G Wipi1 WD repeat domain, phosphoinositide interacting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15342952, PMID:16919414, PMID:17175557 NCBI chr10:97,859,730...97,896,949
Ensembl chr10:97,859,727...97,896,525
JBrowse link
lysosomal and 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: Lysosomal acid lipase deficiency
ClinVar Annotator: match by OMIM:278000
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2129132, PMID:7499245, PMID:7751811, PMID:7759067, PMID:7773732, PMID:7833918, PMID:8146180, PMID:8254026, PMID:8598644, PMID:8617513, PMID:8864960, PMID:8894696, PMID:8956047, PMID:9367797, PMID:9554751, PMID:9684740, PMID:9925650, PMID:10562460, PMID:10627498, PMID:10746035, PMID:11441129, PMID:16255772, PMID:18775687, PMID:21291321, PMID:21757691, PMID:21963785, PMID:22138108, PMID:22227072, PMID:23424026, PMID:23430518, PMID:23485521, PMID:23583223, PMID:24033266, PMID:24048164, PMID:24072694, PMID:24792990, PMID:24832708, PMID:24993530, PMID:25525159, PMID:25620107, PMID:25624737, PMID:25722898, PMID:25741868, PMID:26225414, PMID:26252914, PMID:26350820, PMID:26913919, PMID:27423329, PMID:27624512, PMID:28220406, PMID:28374935, PMID:28492532, PMID:28502505, PMID:28502515, PMID:28881270, PMID:29196158, PMID:30684275, PMID:31180157, PMID:31230978, PMID:31412917 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
metachromatic leukodystrophy 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: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile
ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe
ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult, UMLS MESH term: Adult-Type Metachromatic Leukodystrophies
ClinVar Annotator: match by synonym: Metachromatic leukodystrophy, late infantile
ClinVar
OMIM
PMID:1284530, PMID:1353340, PMID:1357970, PMID:1670590, PMID:1671769, PMID:1673291, PMID:1674719, PMID:1676699, PMID:1678251, PMID:1684088, PMID:1975241, PMID:2574462, PMID:6122378, PMID:7581401, PMID:7649558, PMID:7815433, PMID:7815434, PMID:7825603, PMID:7833949, PMID:7858169, PMID:7860068, PMID:7866401, PMID:7902317, PMID:7906588, PMID:7909527, PMID:7981715, PMID:8095918, PMID:8101038, PMID:8101083, PMID:8104633, PMID:8455580, PMID:8723680, PMID:8891236, PMID:8962139, PMID:8982952, PMID:9090526, PMID:9096767, PMID:9192271, PMID:9402957, PMID:9452102, PMID:9490297, PMID:9600244, PMID:9668161, PMID:9744473, PMID:9819708, PMID:10220151, PMID:10381328, PMID:10459747, PMID:10477432, PMID:10533072, PMID:10751093, PMID:11013459, PMID:11020646, PMID:11061266, PMID:11456299, PMID:11777924, PMID:11941485, PMID:12035837, PMID:12081727, PMID:12086582, PMID:12445909, PMID:12503099, PMID:12788103, PMID:12809637, PMID:12809638, PMID:14517960, PMID:14571263, PMID:14680985, PMID:15026521, PMID:15139291, PMID:15211666, PMID:15326627, PMID:15375602, PMID:15720392, PMID:15952986, PMID:16110195, PMID:16546179, PMID:16678723, PMID:16966551, PMID:17438611, PMID:17560502, PMID:18693274, PMID:18768108, PMID:18786133, PMID:18832844, PMID:19021637, PMID:19154224, PMID:19565006, PMID:19606494, PMID:19815439, PMID:20301309, PMID:20339381, PMID:20646068, PMID:20890085, PMID:21167507, PMID:21265945, PMID:22216298, PMID:22798296, PMID:22993277, PMID:23208745, PMID:23559313, PMID:23581857, PMID:23701968, PMID:23845948, PMID:24001781, PMID:24033266, PMID:25297594, PMID:25525159, PMID:25741868, PMID:25965562, PMID:25987178, PMID:26000324, PMID:26131420, PMID:26462614, PMID:26467025, PMID:26553228, PMID:26890752, PMID:26915897, PMID:27261095, PMID:27289174, PMID:27374302, PMID:27779215, PMID:27904824, PMID:28492532, PMID:28667691, PMID:28670130, PMID:28762252, PMID:29544907, PMID:29966168, PMID:30057904, PMID:30293248, PMID:30311386, PMID:30828547, PMID:31694723, PMID:32632536, PMID:32860008, PMID:15375602, PMID:15026521 RGD:1358435, RGD:1358434 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
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, PMID:14974081, PMID:16435196, PMID:17458871, PMID:17643332, PMID:18406185, PMID:21514195, PMID:21791832, PMID:21917494, PMID:22133300, PMID:22441840, PMID:23557332, PMID:23657977, PMID:24221504, PMID:24373060, PMID:24767253, PMID:25741868, PMID:28492532, PMID:30118150 NCBI chr 2:23,385,154...23,543,028
Ensembl chr 2:23,385,183...23,544,963
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:11709541, PMID:20633800, PMID:24728327, PMID:25741868, PMID:27504877 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Mal mal, T-cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr 3:120,209,647...120,233,655
Ensembl chr 3:120,209,647...120,233,655
JBrowse link
G Psap prosaposin ISO
ISS
ClinVar Annotator: match by term: Metachromatic leukodystrophy
OMIM:249900 | OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar
MouseDO
PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739
JBrowse link
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Saposin B Deficiency ClinVar PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Saposin B Deficiency OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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 ISS OMIM:251850 MouseDO NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
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 OMIM:251850
OMIM
ClinVar
PMID:18724368, PMID:19006234, PMID:20186687, PMID:21206382, PMID:24014347, PMID:24033266, PMID:25111220, PMID:25741868, PMID:27242896, PMID:28492532, PMID:29266534 NCBI chr18:70,426,865...70,729,985
Ensembl chr18:70,427,007...70,729,030
JBrowse link
mucolipidosis 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: Mucolipidosis ClinVar PMID:16200072, PMID:16465621, PMID:16630736, PMID:19634183, PMID:24033266, PMID:27662472 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:16116615, PMID:16200072, PMID:16465621, PMID:16630736, PMID:19197337, PMID:19617216, PMID:19634183, PMID:21416587, PMID:21549105, PMID:23227064, PMID:23773965, PMID:23926388, PMID:24033266, PMID:24045841, PMID:25107912, PMID:25741868, PMID:27662472, PMID:28095893, PMID:28396763, PMID:28492532, PMID:29872134, PMID:30882951, PMID:31934135 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Mucolipidosis ClinVar PMID:24033266, PMID:25741868 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Mcoln1 mucolipin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucolipidosis
CTD
ClinVar
PMID:10441585, PMID:10973263, PMID:11013137, PMID:11030752, PMID:11317355, PMID:11845410, PMID:16287144, PMID:16645217, PMID:17384215, PMID:19815695, PMID:20864526, PMID:21613607, PMID:23555759, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
mucolipidosis II alpha/beta 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: Mucolipidosis, Type II
ClinVar Annotator: match by term: I cell disease
ClinVar PMID:16200072, PMID:16465621, PMID:16630736, PMID:19634183, PMID:25741868, PMID:26130485, PMID:27662472, PMID:28492532 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by OMIM:252500
ClinVar Annotator: match by term: Mucolipidosis type II
ClinVar Annotator: match by term: I cell disease
ClinVar Annotator: match by term: ML II ALPHA/BETA
ClinVar Annotator: match by term: Mucolipidosis II
ClinVar Annotator: match by term: Mucolipidosis, Type II
ClinVar
OMIM
PMID:16116615, PMID:16200072, PMID:16465621, PMID:16630736, PMID:17034777, PMID:18190596, PMID:19197337, PMID:19617216, PMID:19634183, PMID:19659762, PMID:19938078, PMID:20147709, PMID:20301728, PMID:20886637, PMID:21416587, PMID:21549105, PMID:23192343, PMID:23227064, PMID:23566849, PMID:23773965, PMID:23926388, PMID:24045841, PMID:24060719, PMID:24375680, PMID:24550498, PMID:24767253, PMID:24798265, PMID:25107912, PMID:25473036, PMID:25505245, PMID:25525159, PMID:25741868, PMID:25788519, PMID:26130485, PMID:27180337, PMID:27662472, PMID:27710913, PMID:28095893, PMID:28396763, PMID:28492532, PMID:29704188, PMID:29872134, PMID:30208878, PMID:30311386, PMID:30882951, PMID:31319225, PMID:31934135, PMID:32860008 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
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:15633164 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
mucolipidosis III alpha/beta 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: Mucolipidosis, Type III Alpha/Beta
ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar PMID:16200072, PMID:16465621, PMID:16630736, PMID:19634183, PMID:27662472, PMID:28492532 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: MUCOLIPIDOSIS III ALPHA/BETA
ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta
ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta
ClinVar Annotator: match by OMIM:252600
OMIM
ClinVar
PMID:15633164, PMID:16094673, PMID:16116615, PMID:16200072, PMID:16465621, PMID:16630736, PMID:18190596, PMID:19197337, PMID:19617216, PMID:19634183, PMID:19659762, PMID:19938078, PMID:20147709, PMID:20301728, PMID:20367762, PMID:20886637, PMID:21416587, PMID:21549105, PMID:23192343, PMID:23566849, PMID:23926388, PMID:24045841, PMID:24375680, PMID:24550498, PMID:24767253, PMID:25107912, PMID:25505245, PMID:25525159, PMID:25741868, PMID:26130485, PMID:26749367, PMID:27180337, PMID:27662472, PMID:27710913, PMID:28095893, PMID:28492532, PMID:29704188, PMID:29872134, PMID:30311386 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
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 OMIM:252605
ClinVar Annotator: match by term: Mucolipidosis type III gamma
ClinVar Annotator: match by term: Mucolipidosis III Gamma
ClinVar
OMIM
PMID:10712439, PMID:15060128, PMID:19370764, PMID:19659762, PMID:20034096, PMID:20147709, PMID:20301784, PMID:21792934, PMID:23430803, PMID:24033266, PMID:24123366, PMID:24316125, PMID:24767253, PMID:25182519, PMID:25741868, PMID:26130485, PMID:26935170, PMID:27038293, PMID:27243974, PMID:27884173, PMID:27896079, PMID:28492532, PMID:29170090, PMID:29704188 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Mucolipidosis, Type III Gamma ClinVar NCBI chr10:14,547,126...14,593,090
Ensembl chr10:14,547,172...14,590,762
JBrowse link
mucolipidosis type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin 1 ISO ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar Annotator: match by term: ML IV
ClinVar
OMIM
PMID:9448310, PMID:9680151, PMID:9710036, PMID:10441585, PMID:10973263, PMID:11013137, PMID:11030752, PMID:11317355, PMID:11461186, PMID:11551108, PMID:11845410, PMID:11874766, PMID:12125810, PMID:12182165, PMID:14749347, PMID:15178326, PMID:15523648, PMID:16257972, PMID:16287144, PMID:16645217, PMID:17239335, PMID:17306511, PMID:17384215, PMID:18326692, PMID:18794901, PMID:19815695, PMID:20159435, PMID:21763169, PMID:22268962, PMID:22281206, PMID:23555759, PMID:24033266, PMID:24332805, PMID:25119295, PMID:25465891, PMID:25525159, PMID:25668017, PMID:25741868, PMID:25933391, PMID:26467025, PMID:27357649, PMID:28112729, PMID:28492532, PMID:28604674, PMID:28936784, PMID:29019983, PMID:30120981, PMID:32214227, PMID:32860008 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: ML IV
ClinVar Annotator: match by term: Mucolipidosis type IV
ClinVar PMID:26467025, PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
mucopolysaccharidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsg arylsulfatase G ISS OMIM:252700 MouseDO NCBI chr10:97,722,550...97,859,975
Ensembl chr10:97,771,264...97,863,311
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, PMID:20825431, PMID:25741868, PMID:27827379, PMID:28492532, PMID:31536183 NCBI chr16:70,876,557...70,909,443 JBrowse link
G Hyal1 hyaluronidase 1 ISO mucopolysaccharidosis IX, OMIM:601492 RGD PMID:10339581 RGD:1599811 NCBI chr 8:116,332,834...116,337,522
Ensembl chr 8:116,332,796...116,335,435
JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: IDUA pseudodeficiency ClinVar PMID:8554071, PMID:28492532 NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:8650226, PMID:9443875, PMID:9832037, PMID:9950362, PMID:10094189, PMID:11068184, PMID:18218046, PMID:20040070, PMID:20852935, PMID:21204211, PMID:21712855, PMID:22976768, PMID:23084433, PMID:23667853, PMID:25256447, PMID:25520920, PMID:25741868, PMID:26907177, PMID:27590925, PMID:28306536, PMID:28492532, PMID:28836185, PMID:29661560, PMID:29979746, PMID:31413257, PMID:31536183, PMID:217121855 NCBI chr10:88,979,363...88,986,879
Ensembl chr10:88,979,383...88,986,867
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:9158154, PMID:9285796, PMID:9401012, PMID:9554748, PMID:9700599, PMID:9744479, PMID:10521831, PMID:10601282, PMID:11182930, PMID:11343308, PMID:12490062, PMID:12687673, PMID:15146460, PMID:15542396, PMID:17938166, PMID:18407553, PMID:21061399, PMID:21204211, PMID:21671382, PMID:21910976, PMID:22976768, PMID:22976788, PMID:23385295, PMID:24314109, PMID:24816101, PMID:25741868, PMID:25851924, PMID:26331342, PMID:26648750, PMID:26787381, PMID:27896117, PMID:28492532, PMID:28844463, PMID:28921412, PMID:29023963, PMID:30311386, PMID:30809705, PMID:31536183, PMID:32581362 NCBI chr10:108,469,312...108,479,094 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 DNA:nonsense mutation:CDS:p.W402X (human)
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1
ClinVar Annotator: match by term: Mucopolysaccharidosis type I
ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S
DNA:missense mutations, nonsense mutation: :multiple
DNA:missense mutation, nonsense mutation: :p.P533R, p.Q10X (human)
DNA:mutations:exon, intron:multiple
DNA:insertion/deletion, missense mutations, nonsense mutation: :multiple
DNA:splice-site mutations:intron:c.792+1G>T, c.1190-1G>A (human)
DNA:insertion, missense mutation: :704_705CTGCT, p.R89Q (human)
DNA:nonsense mutation: :p.W392X (mouse)
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by OMIM:607014
ClinVar Annotator: match by OMIM:607015
ClinVar
CTD
PMID:1301196, PMID:1301941, PMID:1505961, PMID:1550122, PMID:1627351, PMID:2170400, PMID:2522450, PMID:4112371, PMID:4221470, PMID:7550232, PMID:7550242, PMID:7951228, PMID:8019563, PMID:8213840, PMID:8318992, PMID:8328452, PMID:8401515, PMID:8554071, PMID:8664897, PMID:8680403, PMID:9391892, PMID:9427149, PMID:9748610, PMID:9787109, PMID:10215409, PMID:10466419, PMID:10607946, PMID:10735634, PMID:10738517, PMID:10911525, PMID:11159948, PMID:11735025, PMID:11903343, PMID:12189649, PMID:12203999, PMID:12509712, PMID:12559846, PMID:14516901, PMID:14559116, PMID:15081804, PMID:15194053, PMID:15300847, PMID:15521993, PMID:15862278, PMID:16435195, PMID:16435211, PMID:16438163, PMID:17407067, PMID:17570076, PMID:17606547, PMID:18796143, PMID:19309154, PMID:19396826, PMID:19748810, PMID:19751987, PMID:19839758, PMID:20026495, PMID:20301341, PMID:21176924, PMID:21253827, PMID:21393040, PMID:21394825, PMID:21462124, PMID:21480867, PMID:21521498, PMID:21624210, PMID:21639919, PMID:21734815, PMID:21831683, PMID:21963080, PMID:22074387, PMID:22306676, PMID:22822036, PMID:22976768, PMID:23084433, PMID:23465405, PMID:23786846, PMID:23837464, PMID:23959878, PMID:24033266, PMID:24036510, PMID:24053568, PMID:24314423, PMID:24368159, PMID:24480078, PMID:24698225, PMID:24781210, PMID:24798265, PMID:24875751, PMID:25256405, PMID:25525159, PMID:25557439, PMID:25614311, PMID:25741868, PMID:27146977, PMID:27196898, PMID:27238910, PMID:27511503, PMID:27520059, PMID:27843123, PMID:27896125, PMID:27939258, PMID:28302345, PMID:28492532, PMID:28721335, PMID:28725570, PMID:28728811, PMID:28752568, PMID:29143201, PMID:29282708, PMID:29393969, PMID:29620724, PMID:29705972, PMID:29801497, PMID:29843745, PMID:30442156, PMID:30809705, PMID:31133280, PMID:31194252, PMID:1301196, PMID:7951228, PMID:1301941, PMID:27146977, PMID:15128896, PMID:15126990, PMID:17920451, PMID:18523448, PMID:16435195, PMID:9097952, PMID:24100243, PMID:21734815, PMID:21667973, PMID:8664897, PMID:25597593, PMID:12948739, PMID:19751987, PMID:17407189, PMID:15194053 RGD:1599894, RGD:11069860, RGD:11068482, RGD:12910721, RGD:12910720, RGD:12910719, RGD:12910718, RGD:12910716, RGD:12910516, RGD:12910513, RGD:12910510, RGD:12910509, RGD:12910508, RGD:12910504, RGD:12910503, RGD:12910502, RGD:12910501, RGD:12910499, RGD:12910497 NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency
ClinVar Annotator: match by term: Mucopolysaccharidosis type I
ClinVar PMID:1301941, PMID:1505961, PMID:7550232, PMID:7550242, PMID:7951228, PMID:8019563, PMID:8213840, PMID:8401515, PMID:8664897, PMID:8680403, PMID:9427149, PMID:9748610, PMID:9787109, PMID:10215409, PMID:11159948, PMID:11735025, PMID:12189649, PMID:12203999, PMID:12509712, PMID:12559846, PMID:14559116, PMID:15300847, PMID:15862278, PMID:16438163, PMID:17407067, PMID:18796143, PMID:19396826, PMID:19839758, PMID:21176924, PMID:21394825, PMID:21480867, PMID:21831683, PMID:22306676, PMID:22976768, PMID:23465405, PMID:23786846, PMID:24033266, PMID:24036510, PMID:24053568, PMID:24314423, PMID:24368159, PMID:24781210, PMID:25256405, PMID:25557439, PMID:25741868, PMID:27146977, PMID:27238910, PMID:27843123, PMID:27896125, PMID:27939258, PMID:28492532, PMID:28721335, PMID:28725570, PMID:28728811, PMID:28752568, PMID:29143201, PMID:29393969, PMID:29843745 NCBI chr14:2,050,805...2,056,091
Ensembl chr14:2,050,483...2,056,089
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: Dysostosis multiplex
OMIM
ClinVar
PMID:1301196, PMID:1301941, PMID:1505961, PMID:1550122, PMID:2170400, PMID:2522450, PMID:4112371, PMID:4221470, PMID:6821579, PMID:7550232, PMID:7550242, PMID:7951228, PMID:8019563, PMID:8019572, PMID:8213840, PMID:8318992, PMID:8328452, PMID:8401515, PMID:8477267, PMID:8554071, PMID:8664897, PMID:8680403, PMID:9391892, PMID:9427149, PMID:9748610, PMID:9787109, PMID:10215409, PMID:10466419, PMID:10607946, PMID:10735634, PMID:10738517, PMID:10911525, PMID:11159948, PMID:11735025, PMID:11903343, PMID:12189649, PMID:12203999, PMID:12509712, PMID:12559846, PMID:14516901, PMID:14559116, PMID:15081804, PMID:15300847, PMID:15521993, PMID:15862278, PMID:16188808, PMID:16435195, PMID:16435211, PMID:16438163, PMID:17570076, PMID:17606547, PMID:18463126, PMID:18796143, PMID:19396826, PMID:19748810, PMID:19751987, PMID:19839758, PMID:20301341, PMID:21253827, PMID:21393040, PMID:21394825, PMID:21462124, PMID:21480867, PMID:21521498, PMID:21624210, PMID:21639919, PMID:21734815, PMID:21831683, PMID:21963080, PMID:22074387, PMID:22976768, PMID:23084433, PMID:23210910, PMID:23430803, PMID:23465405, PMID:23786846, PMID:23837464, PMID:24033266, PMID:24036510, PMID:24053568, PMID:24314423, PMID:24368159, PMID:24480078, PMID:24698225, PMID:24798265, PMID:24875751, PMID:25098213, PMID:25256405, PMID:25525159, PMID:25557439, PMID:25558755, PMID:25614311, PMID:25741868, PMID:26825088, PMID:27146977, PMID:27196898, PMID:27238910, PMID:27392569, PMID:27511503, PMID:27520059, PMID:27843123, PMID:27896125, PMID:27939258, PMID:28302345, PMID:28492532, PMID:28676128, PMID:28721335, PMID:28725570, PMID:28728811, PMID:28752568, PMID:29143201, PMID:29393969, PMID:29620724, PMID:29801497, PMID:29843745, PMID:30442156, PMID:30809705, PMID:31133280 NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
JBrowse link
G Pitx1 paired-like homeodomain 1 ISO ClinVar Annotator: match by term: Dysostosis multiplex ClinVar PMID:25741868 NCBI chr17:8,873,184...8,884,428
Ensembl chr17:8,878,270...8,884,423
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Dysostosis multiplex
ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome
ClinVar PMID:1301941, PMID:1505961, PMID:6821579, PMID:7550232, PMID:7951228, PMID:8019563, PMID:8213840, PMID:8328452, PMID:8401515, PMID:8477267, PMID:8664897, PMID:8680403, PMID:9427149, PMID:9748610, PMID:9787109, PMID:10215409, PMID:11159948, PMID:11735025, PMID:12203999, PMID:14559116, PMID:15300847, PMID:15862278, PMID:16438163, PMID:18796143, PMID:19396826, PMID:19839758, PMID:21394825, PMID:21480867, PMID:21831683, PMID:22976768, PMID:23430803, PMID:23465405, PMID:23786846, PMID:24033266, PMID:24036510, PMID:24314423, PMID:24368159, PMID:24798265, PMID:25256405, PMID:25557439, PMID:25741868, PMID:27146977, PMID:27238910, PMID:27511503, PMID:27843123, PMID:27939258, PMID:28492532, PMID:28721335, PMID:28725570, PMID:28728811, PMID:28752568, PMID:29393969, PMID:29843745 NCBI chr14:2,050,805...2,056,091
Ensembl chr14:2,050,483...2,056,089
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, MPS-I-H/S
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S
OMIM
ClinVar
PMID:1301196, PMID:1301941, PMID:1505961, PMID:4221470, PMID:7550232, PMID:7951228, PMID:8213840, PMID:8328452, PMID:8401515, PMID:8664897, PMID:8680403, PMID:9391892, PMID:9427149, PMID:9787109, PMID:10215409, PMID:10466419, PMID:10735634, PMID:10738517, PMID:10911525, PMID:11159948, PMID:11735025, PMID:12189649, PMID:12509712, PMID:14559116, PMID:15521993, PMID:15862278, PMID:16435195, PMID:16435211, PMID:17570076, PMID:18796143, PMID:19396826, PMID:19748810, PMID:19751987, PMID:20301341, PMID:21394825, PMID:21480867, PMID:21521498, PMID:21624210, PMID:21639919, PMID:21734815, PMID:21831683, PMID:22074387, PMID:22976768, PMID:23084433, PMID:23786846, PMID:24033266, PMID:24036510, PMID:24314423, PMID:24368159, PMID:24480078, PMID:24698225, PMID:24798265, PMID:25741868, PMID:27146977, PMID:27196898, PMID:27511503, PMID:27520059, PMID:28492532, PMID:28752568, PMID:29393969, PMID:29801497, PMID:30809705 NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
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:7951228, PMID:8213840, PMID:8401515, PMID:8664897, PMID:8680403, PMID:9427149, PMID:9787109, PMID:10215409, PMID:11159948, PMID:11735025, PMID:14559116, PMID:15862278, PMID:18796143, PMID:19396826, PMID:21394825, PMID:21480867, PMID:21831683, PMID:22976768, PMID:23786846, PMID:24033266, PMID:24314423, PMID:24368159, PMID:25741868, PMID:28492532, PMID:28752568, PMID:29393969 NCBI chr14:2,050,805...2,056,091
Ensembl chr14:2,050,483...2,056,089
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
ClinVar Annotator: match by term: SULFOIDURONATE SULFATASE DEFICIENCY
ClinVar Annotator: match by term: SIDS deficiency
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by OMIM:309900
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II, SEVERE FORM
ClinVar
OMIM
PMID:1284597, PMID:1303211, PMID:1355630, PMID:1550586, PMID:1639384, PMID:1906048, PMID:7581397, PMID:7728156, PMID:7814022, PMID:7866405, PMID:7887413, PMID:8111411, PMID:8318991, PMID:8364592, PMID:8664909, PMID:8829647, PMID:8829661, PMID:8830188, PMID:8940265, PMID:9222763, PMID:9266380, PMID:9375851, PMID:9501270, PMID:9573369, PMID:9660053, PMID:9875019, PMID:9921913, PMID:9950361, PMID:10215411, PMID:10220152, PMID:10814710, PMID:10838181, PMID:11683780, PMID:11731225, PMID:14728992, PMID:15614569, PMID:16133661, PMID:16480701, PMID:17063374, PMID:17091340, PMID:17284421, PMID:17343270, PMID:17391447, PMID:18414213, PMID:18500569, PMID:20104590, PMID:20301451, PMID:21291454, PMID:21639919, PMID:21829674, PMID:22190500, PMID:22492741, PMID:22912587, PMID:22976768, PMID:22990955, PMID:24125893, PMID:24268528, PMID:24515576, PMID:24780617, PMID:25681085, PMID:25741868, PMID:26407519, PMID:26693516, PMID:26752647, PMID:26762690, PMID:27146977, PMID:27246110, PMID:27351199, PMID:27883178, PMID:27896113, PMID:28077157, PMID:28492532, PMID:28543354, PMID:29801497, PMID:30639582, PMID:30809705, PMID:1550586, PMID:27146977 RGD:1599819, RGD:12910721 NCBI chr 8:69,447,971...69,466,708
Ensembl chr 8:69,449,801...69,466,618
JBrowse link
mucopolysaccharidosis III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase susceptibility ISO DNA:nonsense mutation, splice-site mutation, missense mutations:multiple RGD PMID:11153910 RGD:1642057 NCBI chr10:88,992,413...88,996,677
Ensembl chr10:88,992,487...88,996,676
JBrowse link
G Gns glucosamine (N-acetyl)-6-sulfatase ISO mucopolysaccharidosis type IIID (OMIM:252940)
ClinVar Annotator: match by term: Sanfilippo syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3391615, PMID:12573255 RGD:1599248 NCBI chr 7:63,467,027...63,501,054
Ensembl chr 7:63,467,216...63,499,353
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Sanfilippo syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16960811, PMID:17033958, PMID:17397050, PMID:18024218, PMID:18518886, PMID:19479962, PMID:19823584, PMID:20583299, PMID:20825431, PMID:23301227, PMID:24767253, PMID:25491247, PMID:25525159, PMID:25741868, PMID:25859010, PMID:26287674, PMID:28492532, PMID:30311386, PMID:31228227 NCBI chr16:70,876,557...70,909,443 JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Sanfilippo syndrome
ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:252920
human protein in mouse model
protein:decreased activity:skin fibroblast, liver (human)
ClinVar
CTD
PMID:9950362, PMID:10094189, PMID:14984474, PMID:15300983, PMID:15933803, PMID:18218046, PMID:20852935, PMID:21204211, PMID:21937992, PMID:23380547, PMID:23430803, PMID:25741868, PMID:28492532, PMID:28751108, PMID:11668611, PMID:11136549, PMID:10588735, PMID:4261742 RGD:7241018, RGD:7241016, RGD:7241013, RGD:7241012 NCBI chr10:88,979,363...88,986,879
Ensembl chr10:88,979,383...88,986,867
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by OMIM:252900
ClinVar Annotator: match by term: Sanfilippo syndrome
ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9158154, PMID:9285796, PMID:9401012, PMID:9554748, PMID:9700599, PMID:9744479, PMID:10521831, PMID:10601282, PMID:10727844, PMID:11182930, PMID:11343308, PMID:11668611, PMID:12490062, PMID:12687673, PMID:15146460, PMID:15542396, PMID:17938166, PMID:18407553, PMID:21061399, PMID:21204211, PMID:21671382, PMID:22976768, PMID:22976788, PMID:23385295, PMID:24314109, PMID:24816101, PMID:24875751, PMID:25741868, PMID:25851924, PMID:26331342, PMID:26648750, PMID:26787381, PMID:27896117, PMID:28492532, PMID:28844463, PMID:28921412, PMID:29023963, PMID:30311386, PMID:30809705, PMID:31536183, PMID:32581362 NCBI chr10:108,469,312...108,479,094 JBrowse link
G Slc26a11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar NCBI chr10:108,479,105...108,504,188
Ensembl chr10:108,480,368...108,503,706
JBrowse link
mucopolysaccharidosis IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, Type IV ClinVar PMID:25741868, PMID:28492532 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO protein:decreased expression:plasma RGD PMID:22176730 RGD:7247741 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by OMIM:253000
ClinVar Annotator: match by term: Morquio syndrome
ClinVar Annotator: match by term: Mucopolysaccharidosis, Type IV
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A
ClinVar Annotator: match by term: Mucopolysaccharidosis Type IVA
ClinVar
CTD
PMID:7668283, PMID:7741581, PMID:7795586, PMID:8829629, PMID:9189888, PMID:9298823, PMID:9385378, PMID:9401012, PMID:9521421, PMID:10814710, PMID:12721840, PMID:12728175, PMID:15235041, PMID:15309681, PMID:16287098, PMID:16539564, PMID:16837223, PMID:17347914, PMID:17876718, PMID:21506915, PMID:22358740, PMID:22521955, PMID:22543891, PMID:22940367, PMID:22976768, PMID:23227063, PMID:23371450, PMID:23385297, PMID:23876334, PMID:24033266, PMID:24120057, PMID:24726177, PMID:24773188, PMID:25137622, PMID:25252036, PMID:25287660, PMID:25433535, PMID:25501214, PMID:25545067, PMID:25741868, PMID:25897204, PMID:26147980, PMID:27774754, PMID:28428354, PMID:28492532, PMID:28844463, PMID:29275451, PMID:29731656, PMID:30458289, PMID:30980944 NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
JBrowse link
G Glb1 galactosidase, beta 1 ISO Morquio disease type B
DNA:mutation:998 A > G (p.Y333C)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucopolysaccharidosis type IV B
CTD
ClinVar
PMID:1928092, PMID:7586649, PMID:11511921, PMID:19091613 RGD:1598984, RGD:12910454 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IV B ClinVar NCBI chr 8:122,439,679...122,447,208 JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:21887218 RGD:39131283 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf11 TNF superfamily member 11 treatment IEP RGD PMID:21887218 RGD:39131283 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
mucopolysaccharidosis IVA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25741868 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar
PMID:1522213, PMID:7581409, PMID:7633425, PMID:7668283, PMID:7741581, PMID:7795586, PMID:7987329, PMID:8829629, PMID:9189888, PMID:9298823, PMID:9375852, PMID:9385378, PMID:9401012, PMID:9521421, PMID:9660054, PMID:10479485, PMID:10814710, PMID:12442278, PMID:12721840, PMID:12728175, PMID:15235041, PMID:15241807, PMID:15309681, PMID:16287098, PMID:16378744, PMID:16539564, PMID:16837223, PMID:17347914, PMID:17876718, PMID:20574428, PMID:21506915, PMID:22358740, PMID:22521955, PMID:22543891, PMID:22940367, PMID:22976768, PMID:23227063, PMID:23371450, PMID:23385297, PMID:23401410, PMID:23876334, PMID:24033266, PMID:24035930, PMID:24120057, PMID:24411403, PMID:24726177, PMID:25137622, PMID:25252036, PMID:25287660, PMID:25364648, PMID:25433535, PMID:25501214, PMID:25545067, PMID:25741868, PMID:25897204, PMID:26147980, PMID:26276046, PMID:27331011, PMID:27774754, PMID:27825773, PMID:28428354, PMID:28492532, PMID:28844463, PMID:29275451, PMID:29731656, PMID:30094185, PMID:30311386, PMID:30797135, PMID:30980944, PMID:32860008 NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
JBrowse link
G Trappc2l trafficking protein particle complex 2-like ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:8829629, PMID:9375852, PMID:10479485, PMID:12442278, PMID:16287098, PMID:24726177, PMID:25252036, PMID:25741868, PMID:27825773, PMID:28492532 NCBI chr19:55,423,350...55,428,551
Ensembl chr19:55,423,350...55,427,036
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: HYALURONIDASE DEFICIENCY
ClinVar Annotator: match by OMIM:601492
OMIM
ClinVar
PMID:8793927, PMID:10339581, PMID:27424109, PMID:28492532 NCBI chr 8:116,332,834...116,337,522
Ensembl chr 8:116,332,796...116,335,435
JBrowse link
mucopolysaccharidosis type IIIA 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: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:16465621, PMID:19617216, PMID:19938078, PMID:20301728, PMID:23192343, PMID:24045841, PMID:24550498, PMID:25505245, PMID:25741868, PMID:28492532 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar
OMIM
PMID:7493035, PMID:9158154, PMID:9285796, PMID:9401012, PMID:9554748, PMID:9700599, PMID:9744479, PMID:10521831, PMID:10601282, PMID:10727844, PMID:11182930, PMID:11343308, PMID:11668611, PMID:11903343, PMID:12000360, PMID:12438493, PMID:12490062, PMID:12687673, PMID:12702166, PMID:15146460, PMID:15542396, PMID:15637719, PMID:16174644, PMID:17128482, PMID:17938166, PMID:18407553, PMID:19099774, PMID:19383612, PMID:21061399, PMID:21204211, PMID:21228398, PMID:21393040, PMID:21455105, PMID:21671382, PMID:21910976, PMID:21963080, PMID:22002444, PMID:22976768, PMID:22976788, PMID:23084433, PMID:23385295, PMID:24314109, PMID:24347096, PMID:24576347, PMID:24816101, PMID:24875751, PMID:25113300, PMID:25557439, PMID:25741868, PMID:25807448, PMID:25851924, PMID:26075876, PMID:26331342, PMID:26648750, PMID:26787381, PMID:27590925, PMID:27896117, PMID:28492532, PMID:28844463, PMID:28921412, PMID:29023963, PMID:30311386, PMID:30593151, PMID:30809705, PMID:31536183, PMID:32214227, PMID:32581362 NCBI chr10:108,469,312...108,479,094 JBrowse link
G Slc26a11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:21204211, PMID:21910976, PMID:22976768, PMID:24816101, PMID:25741868, PMID:28492532 NCBI chr10:108,479,105...108,504,188
Ensembl chr10:108,480,368...108,503,706
JBrowse link
mucopolysaccharidosis type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B
ClinVar Annotator: match by term: Sanfilippo syndrome B
ClinVar
OMIM
PMID:8650226, PMID:9443875, PMID:9443878, PMID:9832037, PMID:9950362, PMID:10094189, PMID:11068184, PMID:11153910, PMID:11286389, PMID:11668611, PMID:11836372, PMID:12202988, PMID:14984474, PMID:15300983, PMID:15933803, PMID:16151907, PMID:16447797, PMID:18218046, PMID:19046346, PMID:20040070, PMID:20852935, PMID:21204211, PMID:21685203, PMID:21712855, PMID:21910976, PMID:21937992, PMID:22002444, PMID:22976768, PMID:23084433, PMID:23100014, PMID:23380547, PMID:23430803, PMID:23661660, PMID:23667853, PMID:23840811, PMID:24314109, PMID:25256447, PMID:25466957, PMID:25520920, PMID:25525159, PMID:25741868, PMID:25818867, PMID:26075876, PMID:26907177, PMID:27590925, PMID:28018442, PMID:28306536, PMID:28492532, PMID:28751108, PMID:28836185, PMID:28844463, PMID:29661560, PMID:29881562, PMID:29979746, PMID:30070758, PMID:30809705, PMID:31319225, PMID:31413257, PMID:31536183, PMID:217121855 NCBI chr10:88,979,363...88,986,879
Ensembl chr10:88,979,383...88,986,867
JBrowse link