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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10196694-5#49#54#geners770171865 847-852 geners770171865 denotes N215K
10196694-5#97#125#diseaseC0023522 895-923 diseaseC0023522 denotes metachromatic leukodystrophy
49#54#geners77017186597#125#diseaseC0023522 10196694-5#49#54#geners770171865 10196694-5#97#125#diseaseC0023522 associated_with N215K,metachromatic leukodystrophy

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10196694-5#63#73#gene5660 861-871 gene5660 denotes prosaposin
10196694-5#97#125#diseaseC0023522 895-923 diseaseC0023522 denotes metachromatic leukodystrophy
63#73#gene566097#125#diseaseC0023522 10196694-5#63#73#gene5660 10196694-5#97#125#diseaseC0023522 associated_with prosaposin,metachromatic leukodystrophy

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 173-187 HP:0002415 denotes leukodystrophy
AB1 782-796 HP:0002415 denotes leukodystrophy
AB2 909-923 HP:0002415 denotes leukodystrophy

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 159-187 ORDO:512 denotes metachromatic leukodystrophy
AB1 768-796 ORDO:512 denotes metachromatic leukodystrophy
AB2 895-923 ORDO:512 denotes metachromatic leukodystrophy

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 993-998 http://purl.obolibrary.org/obo/UBERON_0001088 denotes urine

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-225 Sentence denotes An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
TextSentencer_T2 226-361 Sentence denotes Sphingolipid activator proteins are small glycoproteins required for the degradation of sphingolipids by specific lysosomal hydrolases.
TextSentencer_T3 362-537 Sentence denotes Four of them, called saposins, are encoded by the prosaposin gene, the product of which is proteolytically cleaved into the four mature saposin proteins (saposins A, B, C, D).
TextSentencer_T4 538-686 Sentence denotes One of these, saposin B, is necessary in the hydrolysis of sulphatide by arylsulphatase A where it presents the solubilised substrate to the enzyme.
TextSentencer_T5 687-797 Sentence denotes As an alternative to arylsulphatase A deficiency, deficiency of saposin B causes metachromatic leukodystrophy.
TextSentencer_T6 798-999 Sentence denotes We identified a previously undescribed mutation (N215K) in the prosaposin gene of a patient with metachromatic leukodystrophy but with normal arylsulphatase A activity and elevated sulphatide in urine.
TextSentencer_T7 1000-1119 Sentence denotes The mutation involves a highly conserved amino acidic residue and abolishes the only N-glycosylation site of saposin B.
T1 0-225 Sentence denotes An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
T2 226-361 Sentence denotes Sphingolipid activator proteins are small glycoproteins required for the degradation of sphingolipids by specific lysosomal hydrolases.
T3 362-537 Sentence denotes Four of them, called saposins, are encoded by the prosaposin gene, the product of which is proteolytically cleaved into the four mature saposin proteins (saposins A, B, C, D).
T4 538-686 Sentence denotes One of these, saposin B, is necessary in the hydrolysis of sulphatide by arylsulphatase A where it presents the solubilised substrate to the enzyme.
T5 687-797 Sentence denotes As an alternative to arylsulphatase A deficiency, deficiency of saposin B causes metachromatic leukodystrophy.
T6 798-999 Sentence denotes We identified a previously undescribed mutation (N215K) in the prosaposin gene of a patient with metachromatic leukodystrophy but with normal arylsulphatase A activity and elevated sulphatide in urine.
T7 1000-1119 Sentence denotes The mutation involves a highly conserved amino acidic residue and abolishes the only N-glycosylation site of saposin B.

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 993-998 http://purl.obolibrary.org/obo/UBERON_0001088 denotes urine

DisGeNET

Id Subject Object Predicate Lexical cue
T0 861-871 gene:5660 denotes prosaposin
T1 895-923 disease:C0023522 denotes metachromatic leukodystrophy
R1 T0 T1 associated_with prosaposin,metachromatic leukodystrophy

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 782-796 HP_0002415 denotes leukodystrophy
T2 909-923 HP_0002415 denotes leukodystrophy