Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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
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:15611419 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:18974770 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:23818648 PMID:23913314 PMID:23922385 PMID:23935525 PMID:23980562 PMID:24015197 PMID:24033266 PMID:24082139 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:25409744 PMID:25439755 PMID:25468650 PMID:25468652 PMID:25511234 PMID:25525159 PMID:25596309 PMID:25611685 PMID:25637381 PMID:25663229 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:28736719 PMID:28749998 PMID:28756410 PMID:28798024 PMID:28799081 PMID:28941980 PMID:28977874 PMID:28988177 PMID:29018006 PMID:29037082 PMID:29079200 PMID:29132836 PMID:29203563 PMID:29215092 PMID:29247119 PMID:29307789 PMID:29330335 PMID:29361493 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:30477121 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:32023956 PMID:32161151 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 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 G6pc1 glucose-6-phosphatase catalytic subunit 1 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 transcarbamylase 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 Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Acid beta-glucosidase deficiency ClinVar PMID:9596582 PMID:10819326 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:27668284 PMID:28087732 PMID:30194818 PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
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 Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile ClinVar PMID:9596582 PMID:10819326 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:27668284 PMID:28087732 PMID:30194818 PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
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:20944643 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 TRP cation channel 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 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:31761138, 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 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: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1
ClinVar Annotator: match by term: 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 PMID:31761138 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:23757202 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 PMID:31761138 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: GM1 gangliosidosis type 3
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, 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 TRP cation channel 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:20944643 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:20944643 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 TRP cation channel 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: Mucopolysaccharidosis type 1
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency
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:30903511 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: Hurler syndrome
ClinVar Annotator: match by term: Gargoylism, 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:30903511 PMID:31133280 PMID:31194252 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:15689448 PMID:16287098 PMID:16378744 PMID:16539564 PMID:16837223 PMID:17347914 PMID:17876718 PMID:20574428 PMID:21506915 PMID:21943391 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:15689448 PMID:16287098 PMID:21943391 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
mucopolysaccharidosis type IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
OMIM
ClinVar
PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218