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sentences

Id Subject Object Predicate Lexical cue
T1 0-63 Sentence denotes Molecular basis of tyrosinase-negative oculocutaneous albinism.
T2 64-168 Sentence denotes A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59.
T3 169-342 Sentence denotes Tyrosinase-negative oculocutaneous albinism (OCA) is one of classical inborn errors of metabolism, characterized by a complete lack of melanin pigments in the eyes and skin.
T4 343-414 Sentence denotes We have isolated and characterized the tyrosinase gene of one child (F.
T5 415-457 Sentence denotes S.) affected with tyrosinase-negative OCA.
T6 458-633 Sentence denotes Sequence analysis reveals a single-base mutation in the exon 1 (a G to A transition at nucleotide residue 312), causing the Arg (CGG) to Gln (CAG) substitution at position 59.
T7 634-827 Sentence denotes This base change eliminates one MspI site and creates a new BstNI site in the patient's exon 1, which is invaluable for screening other OCA patients and heterozygote carriers for this mutation.
T8 828-875 Sentence denotes We are thus able to confirm that the patient F.
T9 876-913 Sentence denotes S. is homozygous for this OCA allele.
T10 914-950 Sentence denotes The family members of the patient F.
T11 951-1023 Sentence denotes S. are phenotypically normal, but are shown to be heterozygote carriers.
T12 1024-1232 Sentence denotes Transfection of the mutant gene fails to give rise to detectable tyrosinase activity in transient expression assays, suggesting that the mutation affects the stability or the catalytic activity of the enzyme.
T13 1233-1297 Sentence denotes We therefore propose that the albino phenotype of the patient F.
T14 1298-1414 Sentence denotes S. is a consequence of the Arg to Gln substitution at position 59 caused by a point mutation in the tyrosinase gene.
T1 0-63 Sentence denotes Molecular basis of tyrosinase-negative oculocutaneous albinism.
T2 64-168 Sentence denotes A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59.
T3 169-342 Sentence denotes Tyrosinase-negative oculocutaneous albinism (OCA) is one of classical inborn errors of metabolism, characterized by a complete lack of melanin pigments in the eyes and skin.
T4 343-414 Sentence denotes We have isolated and characterized the tyrosinase gene of one child (F.
T5 415-457 Sentence denotes S.) affected with tyrosinase-negative OCA.
T6 458-633 Sentence denotes Sequence analysis reveals a single-base mutation in the exon 1 (a G to A transition at nucleotide residue 312), causing the Arg (CGG) to Gln (CAG) substitution at position 59.
T7 634-827 Sentence denotes This base change eliminates one MspI site and creates a new BstNI site in the patient's exon 1, which is invaluable for screening other OCA patients and heterozygote carriers for this mutation.
T8 828-875 Sentence denotes We are thus able to confirm that the patient F.
T9 876-913 Sentence denotes S. is homozygous for this OCA allele.
T10 914-950 Sentence denotes The family members of the patient F.
T11 951-1023 Sentence denotes S. are phenotypically normal, but are shown to be heterozygote carriers.
T12 1024-1232 Sentence denotes Transfection of the mutant gene fails to give rise to detectable tyrosinase activity in transient expression assays, suggesting that the mutation affects the stability or the catalytic activity of the enzyme.
T13 1233-1297 Sentence denotes We therefore propose that the albino phenotype of the patient F.
T14 1298-1414 Sentence denotes S. is a consequence of the Arg to Gln substitution at position 59 caused by a point mutation in the tyrosinase gene.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 312-320 http://purl.obolibrary.org/obo/MAT_0000159 denotes pigments
T2 328-332 http://purl.obolibrary.org/obo/MAT_0000140 denotes eyes
T3 337-341 http://purl.obolibrary.org/obo/MAT_0000284 denotes skin

DisGeNET

Id Subject Object Predicate Lexical cue
T0 94-104 gene:7299 denotes tyrosinase
T1 19-62 disease:C0268494 denotes tyrosinase-negative oculocutaneous albinism
R1 T0 T1 associated_with tyrosinase,tyrosinase-negative oculocutaneous albinism

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 204-212 HP_0001022 denotes albinism
T2 1263-1269 HP_0001022 denotes albino

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
2120217-0#118#167#geners13312740 118-167 geners13312740 denotes arginine to glutamine substitution at position 59
2120217-0#39#62#diseaseC0078918 39-62 diseaseC0078918 denotes oculocutaneous albinism
2120217-8#92#130#geners13312740 1325-1363 geners13312740 denotes Arg to Gln substitution at position 59
2120217-8#30#36#diseaseC0001916 1263-1269 diseaseC0001916 denotes albino
118#167#geners1331274039#62#diseaseC0078918 2120217-0#118#167#geners13312740 2120217-0#39#62#diseaseC0078918 associated_with arginine to glutamine substitution at position 59,oculocutaneous albinism
92#130#geners1331274030#36#diseaseC0001916 2120217-8#92#130#geners13312740 2120217-8#30#36#diseaseC0001916 associated_with Arg to Gln substitution at position 59,albino

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
2120217-0#19#29#gene7299 19-29 gene7299 denotes tyrosinase
2120217-0#94#104#gene7299 94-104 gene7299 denotes tyrosinase
2120217-0#39#62#diseaseC0078918 39-62 diseaseC0078918 denotes oculocutaneous albinism
2120217-1#0#10#gene7299 169-179 gene7299 denotes Tyrosinase
2120217-1#70#97#diseaseC0025521 239-266 diseaseC0025521 denotes inborn errors of metabolism
2120217-8#165#175#gene7299 1398-1408 gene7299 denotes tyrosinase
2120217-8#30#36#diseaseC0001916 1263-1269 diseaseC0001916 denotes albino
19#29#gene729939#62#diseaseC0078918 2120217-0#19#29#gene7299 2120217-0#39#62#diseaseC0078918 associated_with tyrosinase,oculocutaneous albinism
94#104#gene729939#62#diseaseC0078918 2120217-0#94#104#gene7299 2120217-0#39#62#diseaseC0078918 associated_with tyrosinase,oculocutaneous albinism
0#10#gene729970#97#diseaseC0025521 2120217-1#0#10#gene7299 2120217-1#70#97#diseaseC0025521 associated_with Tyrosinase,inborn errors of metabolism
165#175#gene729930#36#diseaseC0001916 2120217-8#165#175#gene7299 2120217-8#30#36#diseaseC0001916 associated_with tyrosinase,albino

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 204-212 HP:0001022 denotes albinism
TI1 54-62 HP:0001022 denotes albinism

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 19-62 Disease denotes tyrosinase-negative oculocutaneous albinism http://purl.obolibrary.org/obo/MONDO_0008745
T2 169-212 Disease denotes Tyrosinase-negative oculocutaneous albinism http://purl.obolibrary.org/obo/MONDO_0008745
T3 214-217 Disease denotes OCA http://purl.obolibrary.org/obo/MONDO_0018910
T4 239-266 Disease denotes inborn errors of metabolism http://purl.obolibrary.org/obo/MONDO_0019052
T5 453-456 Disease denotes OCA http://purl.obolibrary.org/obo/MONDO_0018910
T6 770-773 Disease denotes OCA http://purl.obolibrary.org/obo/MONDO_0018910
T7 902-905 Disease denotes OCA http://purl.obolibrary.org/obo/MONDO_0018910

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 312-320 Body_part denotes pigments http://purl.obolibrary.org/obo/MAT_0000159
T2 328-332 Body_part denotes eyes http://purl.obolibrary.org/obo/MAT_0000140
T3 337-341 Body_part denotes skin http://purl.obolibrary.org/obo/MAT_0000284

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 54-62 Phenotype denotes albinism HP:0001022
T2 204-212 Phenotype denotes albinism HP:0001022

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 865-872 OrganismTaxon denotes patient 9606
T2 940-947 OrganismTaxon denotes patient 9606
T3 1287-1294 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 328-332 Body_part denotes eyes http://purl.obolibrary.org/obo/UBERON_0000019
T2 337-341 Body_part denotes skin http://purl.obolibrary.org/obo/UBERON_0000014|http://purl.obolibrary.org/obo/UBERON_0001003|http://purl.obolibrary.org/obo/UBERON_0002097|http://purl.obolibrary.org/obo/UBERON_0002199