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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:Tay-Sachs disease
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Accession:DOID:3320 term browser browse the term
Definition:A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. (DO)
Synonyms:exact_synonym: B Variant GM2 Gangliosidosis;   Deficiency Disease Hexosaminidase A;   GM2 Gangliosidosis, Type 1;   GM2-GANGLIOSIDE ACCUMULATION;   GM2-gangliosidoses, variant B;   GM2-gangliosidosis type I;   Gangliosidosis G(M2), Type I;   Gangliosidosis, GM2, type I (B variant);   Gm2-Gangliosidosis, Chronic;   Gm2-Gangliosidosis, Juvenile;   HexA Deficiency;   Hexosaminidase A Deficiency;   Hexosaminidase alpha Subunit Deficiency (Variant B);   TSD;   Tay-Sachs sphingolipidosis;   amaurotic familial idiocy;   pseudodeficiency of beta-hexosaminidase A
 narrow_synonym: GM2-GANGLIOSIDOSIS, VARIANT B1;   HEXA DEFICIENCY TAY-SACHS DISEASE, JUVENILE;   HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE;   Tay-Sachs disease, juvenile/adult;   Tay-Sachs disease, pseudo-AB variant;   Tay-Sachs disease, variant B;   Tay-Sachs disease, variant B1
 related_synonym: Hexa, dn Allele
 primary_id: MESH:D013661
 alt_id: OMIA:001461;   OMIM:272800
 xref: GARD:7737;   ICD10CM:E75.02;   NCI:C85184
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 8:59,699,388...59,727,351 		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 8:59,777,379...59,880,245 		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 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607 		JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380 		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 8:59,975,095...60,006,060
Ensembl chr 8:59,975,088...60,005,041 		JBrowse link
G Gm2a ganglioside GM2 activator ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar NCBI chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757 		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 8:60,080,338...60,115,842 		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 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		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 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		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 8:58,904,153...58,914,843 		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 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514 		JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348 		JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:1833974 PMID:8490625 PMID:28492532 NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401 		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 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163 		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 8:60,016,594...60,049,108
Ensembl chr 8:60,016,877...60,049,108 		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 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599 		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 8:59,063,352...59,149,887 		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 8:60,121,714...60,148,928 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Tay-Sachs disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		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 8:58,761,563...58,773,711 		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 8:59,910,824...59,916,609 		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 chr10:39,219,221...39,231,756
Ensembl chr10:39,219,243...39,231,757 		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 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		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 chr10:39,278,002...39,306,082
Ensembl chr10:39,278,046...39,306,082 		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 chr10:39,243,531...39,273,433
Ensembl chr10:39,243,595...39,270,567 		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 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		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 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		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 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		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 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        lipid metabolism disorder 1741
          lipid storage disease 832
            sphingolipidosis 149
              gangliosidosis 43
                GM2 gangliosidosis 39
                  Tay-Sachs disease 24
                    GM2 Gangliosidosis, AB variant 4
                    Gm2-Gangliosidosis, Adult Chronic Type 1
                    Gm2-Gangliosidosis, Variant B1 1
                    Hexosaminidase A Deficiency, Adult Type 0
                    Tay-Sachs Disease, Juvenile 1
                    Tay-Sachs Disease, Pseudo-AB Variant 0
                    Tay-Sachs Disease, Variant B1 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            Metabolic Brain Diseases 1489
              Metabolic Brain Diseases, Inborn 1357
                Lysosomal Storage Diseases, Nervous System 177
                  sphingolipidosis 149
                    gangliosidosis 43
                      GM2 gangliosidosis 39
                        Tay-Sachs disease 24
                          GM2 Gangliosidosis, AB variant 4
                          Gm2-Gangliosidosis, Adult Chronic Type 1
                          Gm2-Gangliosidosis, Variant B1 1
                          Hexosaminidase A Deficiency, Adult Type 0
                          Tay-Sachs Disease, Juvenile 1
                          Tay-Sachs Disease, Pseudo-AB Variant 0
                          Tay-Sachs Disease, Variant B1 1
paths to the root