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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:GM2 gangliosidosis
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Accession:DOID:3321 term browser browse the term
Definition:A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes. (DO)
Synonyms:exact_synonym: G(M2) Gangliosidoses;   GM2 gangliosidose;   GM2 gangliosidoses;   GM>2< gangliosidosis
 narrow_synonym: GM2-gangliosidosis, late onset
 xref: ICD10CM:E75.0;   MESH:D020143;   MONDO:0017720
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
GM2 gangliosidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a ganglioside GM2 activator ISO Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chr10:39,719,919...39,732,452
Ensembl chr10:39,719,938...39,732,451 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696 PMID:2145759 PMID:2278539 PMID:2522660 PMID:2522679 More... NCBI chr 8:68,832,524...68,857,462
Ensembl chr 8:68,809,615...68,859,560 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:91,026,474...91,126,315 		JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,840,019...9,860,142 		JBrowse link
GM2 gangliosidosis, AB variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a ganglioside GM2 activator ISO
ISS 		ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
OMIM:272750
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:174379 PMID:1570834 PMID:1915858 PMID:8244332 PMID:8900233 More... NCBI chr10:39,719,919...39,732,452
Ensembl chr10:39,719,938...39,732,451 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:1301938 PMID:1307230 PMID:1830584 PMID:1833974 PMID:2294750 More... NCBI chr 8:68,832,524...68,857,462
Ensembl chr 8:68,809,615...68,859,560 		JBrowse link
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:28492532 NCBI chr10:39,778,667...39,806,781
Ensembl chr10:39,778,693...39,806,773 		JBrowse link
G Slc36a3 solute carrier family 36, member 3 ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:28492532 NCBI chr10:39,744,226...39,774,120
Ensembl chr10:39,744,290...39,771,261 		JBrowse link
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name 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 Annotator: match by term: Gm2-gangliosidosis, adult ClinVar PMID:1483696 PMID:1532289 PMID:2145759 PMID:2278539 PMID:2522660 More... NCBI chr 8:68,832,524...68,857,462
Ensembl chr 8:68,809,615...68,859,560 		JBrowse link
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 ClinVar PMID:1532289 NCBI chr 8:68,832,524...68,857,462
Ensembl chr 8:68,809,615...68,859,560 		JBrowse link
Sandhoff disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankdd1b ankyrin repeat and death domain containing 1B ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:27,750,301...27,814,291
Ensembl chr 2:29,484,881...29,548,590 		JBrowse link
G Ankrd31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:28,079,187...28,241,722
Ensembl chr 2:29,813,940...29,977,149 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:15155903 RGD:7241825 NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439 		JBrowse link
G Cert1 ceramide transporter 1 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:29,617,202...29,721,734
Ensembl chr 2:29,617,023...29,721,729 		JBrowse link
G Fam169a family with sequence similarity 169, member A ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:28,384,162...28,441,361
Ensembl chr 2:30,119,381...30,175,962 		JBrowse link
G Gcnt4 glucosaminyl (N-acetyl) transferase 4 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:28,253,325...28,283,082
Ensembl chr 2:29,984,327...30,017,982 		JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:7550345 PMID:18758829 PMID:28492532 NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:30,184,115...30,222,806 		JBrowse link
G Hexb hexosaminidase subunit beta ISO
ISS 		ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease
ClinVar Annotator: match by term: GM2 gangliosidosis, type 2 | ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease
OMIM:268800
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10724 PMID:571983 PMID:868875 PMID:1386607 PMID:1487253 More... RGD:1599422 NCBI chr 2:30,218,608...30,238,771
Ensembl chr 2:30,218,608...30,238,771 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:29,720,553...29,754,533 		JBrowse link
G Nsa2 NSA2 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:30,177,753...30,184,004
Ensembl chr 2:30,177,702...30,184,031 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:29,454,392...29,483,468
Ensembl chr 2:29,454,272...29,485,309 		JBrowse link
G Polk DNA polymerase kappa ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:29,556,831...29,616,960
Ensembl chr 2:29,557,336...29,616,960 		JBrowse link
Sandhoff Disease, Adult Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, adult type ClinVar PMID:571983 PMID:1386607 PMID:1531140 PMID:2147027 PMID:2948136 More... NCBI chr 2:30,218,608...30,238,771
Ensembl chr 2:30,218,608...30,238,771 		JBrowse link
Sandhoff Disease, Infantile Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enc1 ectodermal-neural cortex 1 ISO ClinVar Annotator: match by term: Sandhoff disease, infantile type ClinVar PMID:7633435 NCBI chr 2:30,285,274...30,297,194
Ensembl chr 2:30,283,736...30,315,721 		JBrowse link
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, infantile type ClinVar PMID:7550345 PMID:7633435 PMID:8045559 PMID:8162015 PMID:9888387 More... NCBI chr 2:30,218,608...30,238,771
Ensembl chr 2:30,218,608...30,238,771 		JBrowse link
Sandhoff Disease, Juvenile Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, juvenile type ClinVar PMID:10724 PMID:1386607 PMID:1531140 PMID:1720305 PMID:2147027 More... NCBI chr 2:30,218,608...30,238,771
Ensembl chr 2:30,218,608...30,238,771 		JBrowse link
Tay-Sachs disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:68,595,248...68,623,178 		JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:68,673,200...68,775,572 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:68,627,656...68,661,358 		JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:67,833,587...67,863,918
Ensembl chr 8:67,829,048...67,864,505 		JBrowse link
G Celf6 CUGBP, Elav-like family member 6 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:68,870,902...68,901,863
Ensembl chr 8:68,871,093...68,901,863 		JBrowse link
G Gm2a ganglioside GM2 activator ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:8900233 PMID:10364519 PMID:24767253 PMID:28492532 NCBI chr10:39,719,919...39,732,452
Ensembl chr10:39,719,938...39,732,451 		JBrowse link
G Gramd2a GRAM domain containing 2A ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:60,079,744...60,117,788
Ensembl chr 8:69,003,807...69,013,573 		JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO
ISS 		ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar Annotator: match by term: Tay-sachs disease, juvenile/adult
OMIM:272800
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:803011 PMID:1269177 PMID:1301189 PMID:1301190 PMID:1301937 More... RGD:13673908 NCBI chr 8:68,832,524...68,857,462
Ensembl chr 8:68,809,615...68,859,560 		JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:67,799,304...67,814,536 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:67,587,636...67,612,224
Ensembl chr 8:67,587,636...67,612,224 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:69,044,853...69,248,094
Ensembl chr 8:69,044,885...69,245,231 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:68,169,711...68,322,158
Ensembl chr 8:68,169,716...68,322,152 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:67,892,678...67,959,231
Ensembl chr 8:67,892,702...67,959,236 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:69,261,343...69,269,081
Ensembl chr 8:69,261,343...69,269,081 		JBrowse link
G Parp6 poly (ADP-ribose) polymerase family, member 6 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:68,912,393...68,944,904
Ensembl chr 8:68,917,388...68,944,898 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:68,949,731...68,975,394
Ensembl chr 8:68,948,815...68,975,396 		JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:67,958,421...68,119,234 		JBrowse link
G Senp8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:60,135,446...60,148,836
Ensembl chr 8:68,991,913...69,055,976 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740 		JBrowse link
G Tbc1d21 TBC1 domain family, member 21 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:67,657,410...67,669,558 		JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:68,806,632...68,812,417 		JBrowse link
Tay-Sachs Disease, Juvenile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-sachs disease, juvenile ClinVar PMID:1301189 PMID:25741868 NCBI chr 8:68,832,524...68,857,462
Ensembl chr 8:68,809,615...68,859,560 		JBrowse link
Tay-Sachs Disease, Variant B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant ClinVar PMID:1302612 PMID:1318511 PMID:1831451 PMID:1832817 PMID:1833974 More... NCBI chr 8:68,832,524...68,857,462
Ensembl chr 8:68,809,615...68,859,560 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        lipid metabolism disorder 1908
          lipid storage disease 858
            sphingolipidosis 148
              gangliosidosis 43
                GM2 gangliosidosis 39
                  Sandhoff disease + 13
                  Tay-Sachs disease + 24
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            Metabolic Brain Diseases 1519
              Metabolic Brain Diseases, Inborn 1388
                Lysosomal Storage Diseases, Nervous System 179
                  sphingolipidosis 148
                    gangliosidosis 43
                      GM2 gangliosidosis 39
                        Sandhoff disease + 13
                        Tay-Sachs disease + 24
paths to the root