> top > docs > PubMed:8357844 > annotations

PubMed:8357844 JSONTXT

Annnotations TAB JSON ListView MergeView

DisGeNET

Id Subject Object Predicate Lexical cue
T0 314-333 gene:10724 denotes beta-hexosaminidase
T1 178-194 disease:C0036161 denotes Sandhoff disease
T2 314-333 gene:10724 denotes beta-hexosaminidase
T3 200-226 disease:C0085078 denotes lysosomal storage disorder
R1 T0 T1 associated_with beta-hexosaminidase,Sandhoff disease
R2 T2 T3 associated_with beta-hexosaminidase,lysosomal storage disorder

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
8357844-0#70#108#geners757918827 70-108 geners757918827 denotes glutamine for arginine at position 505
8357844-0#36#52#diseaseC0036161 36-52 diseaseC0036161 denotes Sandhoff disease
70#108#geners75791882736#52#diseaseC0036161 8357844-0#70#108#geners757918827 8357844-0#36#52#diseaseC0036161 associated_with glutamine for arginine at position 505,Sandhoff disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8357844-0#130#149#gene10724 130-149 gene10724 denotes beta-hexosaminidase
8357844-0#36#52#diseaseC0036161 36-52 diseaseC0036161 denotes Sandhoff disease
8357844-1#136#155#gene10724 314-333 gene10724 denotes beta-hexosaminidase
8357844-1#22#48#diseaseC0085078 200-226 diseaseC0085078 denotes lysosomal storage disorder
130#149#gene1072436#52#diseaseC0036161 8357844-0#130#149#gene10724 8357844-0#36#52#diseaseC0036161 associated_with beta-hexosaminidase,Sandhoff disease
136#155#gene1072422#48#diseaseC0085078 8357844-1#136#155#gene10724 8357844-1#22#48#diseaseC0085078 associated_with beta-hexosaminidase,lysosomal storage disorder

GlyCosmos15-Glycan

Id Subject Object Predicate Lexical cue image
T1 260-263 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 36-52 Disease denotes Sandhoff disease http://purl.obolibrary.org/obo/MONDO_0010006
T2 178-194 Disease denotes Sandhoff disease http://purl.obolibrary.org/obo/MONDO_0010006
T3 200-226 Disease denotes lysosomal storage disorder http://purl.obolibrary.org/obo/MONDO_0002561
T4 386-402 Disease denotes Sandhoff disease http://purl.obolibrary.org/obo/MONDO_0010006
T5 541-557 Disease denotes Sandhoff disease http://purl.obolibrary.org/obo/MONDO_0010006
T6 1841-1857 Disease denotes Sandhoff disease http://purl.obolibrary.org/obo/MONDO_0010006

Glycan-GlyCosmos

Id Subject Object Predicate Lexical cue image
T1 260-263 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT

GlyCosmos15-CL

Id Subject Object Predicate Lexical cue cl_id
T1 719-730 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T2 880-884 Cell denotes poly http://purl.obolibrary.org/obo/CL:0000096|http://purl.obolibrary.org/obo/CL:0000775

GlyCosmos15-MONDO

Id Subject Object Predicate Lexical cue mondo_id
T1 36-52 Disease denotes Sandhoff disease MONDO:0010006
T2 178-194 Disease denotes Sandhoff disease MONDO:0010006
T3 200-226 Disease denotes lysosomal storage disorder MONDO:0002561
T4 386-402 Disease denotes Sandhoff disease MONDO:0010006
T5 541-557 Disease denotes Sandhoff disease MONDO:0010006
T6 1841-1857 Disease denotes Sandhoff disease MONDO:0010006

GlyCosmos15-Taxon

Id Subject Object Predicate Lexical cue db_id
T1 1199-1223 Organism denotes Dictyostelium discoideum 44689
T2 1346-1353 Organism denotes patient 9606

GlyCosmos15-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 443-451 Body_part denotes juvenile http://purl.obolibrary.org/obo/UBERON_0007021
T2 719-730 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057

GlyCosmos15-Sentences

Id Subject Object Predicate Lexical cue
T1 0-177 Sentence denotes Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.
T2 178-334 Sentence denotes Sandhoff disease is a lysosomal storage disorder characterized by accumulation of GM2 ganglioside due to mutations in the beta-chain of beta-hexosaminidase.
T3 335-468 Sentence denotes Hexosaminidase activity is negligible in infantile Sandhoff disease whereas residual activity is present in juvenile and adult forms.
T4 469-558 Sentence denotes Here we report the molecular basis of the first described adult form of Sandhoff disease.
T5 559-679 Sentence denotes Southern analysis of chromosomal DNA indicated the absence of chromosomal deletions in the gene encoding the beta-chain.
T6 680-828 Sentence denotes Northern analysis of RNA from cultured fibroblasts demonstrated that at least one of the beta-chain alleles was transcribed into normal-length mRNA.
T7 829-1010 Sentence denotes Sequence analysis of the entire cDNA prepared from poly-adenylated RNA showed that only one point mutation was present, consisting of a G-->A transition at nucleotide position 1514.
T8 1011-1224 Sentence denotes This mutation changes the electric charge at amino acid position 505 by substitution of glutamine for arginine in a highly conserved part of the beta-chain, present even in the slime mold Dictyostelium discoideum.
T9 1225-1354 Sentence denotes The nucleotide transition generated a new restriction site for DdeI, which was present in only one of the alleles of the patient.
T10 1355-1538 Sentence denotes Reverse transcription of mRNA followed by restriction with DdeI resulted in complete digestion at the mutation site, demonstrating that the second allele was of an mRNA-negative type.
T11 1539-1712 Sentence denotes Transfection of COS cells with a cDNA construct containing the mutation but otherwise the normal sequence resulted in the expression of a labile form of beta-hexosaminidase.
T12 1713-1901 Sentence denotes These results show that the patient's is a genetic compound, and that the lability of beta-hexosaminidase found in this form of Sandhoff disease is based on a single nucleotide transition.

GlyCosmos15-FMA

Id Subject Object Predicate Lexical cue db_id
T1 200-209 Body_part denotes lysosomal FMA:63836
T2 580-591 Body_part denotes chromosomal FMA:67093
T3 621-632 Body_part denotes chromosomal FMA:67093
T4 719-730 Body_part denotes fibroblasts FMA:63877

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 1199-1223 OrganismTaxon denotes Dictyostelium discoideum 44689
T2 1346-1353 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 443-451 Body_part denotes juvenile http://purl.obolibrary.org/obo/UBERON_0007021
T2 719-730 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 719-730 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T2 880-884 Cell denotes poly http://purl.obolibrary.org/obo/CL:0000096|http://purl.obolibrary.org/obo/CL:0000775