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PubMed:11592034 JSONTXT

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ggdb-test

Id Subject Object Predicate Lexical cue
T1 17-40 https://acgg.asia/db/ggdb/info/gg188 denotes fukutin-related protein
T2 17-24 https://acgg.asia/db/ggdb/info/gg187 denotes fukutin
T3 47-51 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP
T4 871-875 https://acgg.asia/db/ggdb/info/gg187 denotes FCMD
T5 923-927 https://acgg.asia/db/ggdb/info/gg187 denotes FCMD
T6 972-979 https://acgg.asia/db/ggdb/info/gg187 denotes fukutin
T7 1107-1114 https://acgg.asia/db/ggdb/info/gg187 denotes fukutin
T8 1131-1154 https://acgg.asia/db/ggdb/info/gg188 denotes fukutin related protein
T9 1131-1138 https://acgg.asia/db/ggdb/info/gg187 denotes fukutin
T10 1156-1160 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP
T11 1243-1247 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP
T12 1308-1312 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP
T13 1948-1953 https://acgg.asia/db/ggdb/info/gg188 denotes MDC1C

PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 69-98 DiseaseOrPhenotypicFeature denotes congenital muscular dystrophy 0019950
T2 114-139 DiseaseOrPhenotypicFeature denotes laminin alpha2 deficiency 0011925
T3 194-225 DiseaseOrPhenotypicFeature denotes congenital muscular dystrophies 0019950
T4 227-230 DiseaseOrPhenotypicFeature denotes CMD 0007251|0007397|0019950|0044875
T8 441-459 DiseaseOrPhenotypicFeature denotes mental retardation 0001071
T9 496-499 DiseaseOrPhenotypicFeature denotes CMD 0007251|0007397|0019950|0044875
T13 500-509 DiseaseOrPhenotypicFeature denotes syndromes 0002254
T14 546-549 DiseaseOrPhenotypicFeature denotes CMD 0007251|0007397|0019950|0044875
T18 577-582 DiseaseOrPhenotypicFeature denotes MDC1A 0011925
T19 745-748 DiseaseOrPhenotypicFeature denotes CMD 0007251|0007397|0019950|0044875
T23 749-758 DiseaseOrPhenotypicFeature denotes syndromes 0002254
T24 770-775 DiseaseOrPhenotypicFeature denotes MDC1B 0011486
T25 822-846 DiseaseOrPhenotypicFeature denotes muscle-eye-brain disease 0018939
T26 848-851 DiseaseOrPhenotypicFeature denotes MEB 0018939
T27 866-869 DiseaseOrPhenotypicFeature denotes CMD 0007251|0007397|0019950|0044875
T31 871-875 DiseaseOrPhenotypicFeature denotes FCMD 0009678|0023204
T33 923-927 DiseaseOrPhenotypicFeature denotes FCMD 0009678|0023204
T35 1362-1365 DiseaseOrPhenotypicFeature denotes CMD 0007251|0007397|0019950|0044875
T39 1471-1489 DiseaseOrPhenotypicFeature denotes muscle hypertrophy 0013598
T40 1948-1953 DiseaseOrPhenotypicFeature denotes MDC1C 0011688

GGDB-2020

Id Subject Object Predicate Lexical cue
T1 17-40 https://acgg.asia/db/ggdb/info/gg188 denotes fukutin-related protein
T2 17-24 https://acgg.asia/db/ggdb/info/gg187 denotes fukutin
T3 47-51 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP
T4 871-875 https://acgg.asia/db/ggdb/info/gg187 denotes FCMD
T5 923-927 https://acgg.asia/db/ggdb/info/gg187 denotes FCMD
T6 972-979 https://acgg.asia/db/ggdb/info/gg187 denotes fukutin
T7 1107-1114 https://acgg.asia/db/ggdb/info/gg187 denotes fukutin
T8 1131-1154 https://acgg.asia/db/ggdb/info/gg188 denotes fukutin related protein
T9 1131-1138 https://acgg.asia/db/ggdb/info/gg187 denotes fukutin
T10 1156-1160 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP
T11 1243-1247 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP
T12 1308-1312 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP
T13 1948-1953 https://acgg.asia/db/ggdb/info/gg188 denotes MDC1C

glycogenes

Id Subject Object Predicate Lexical cue
PD-GlycoGenes20190927-B_T1 47-51 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP
PD-GlycoGenes20190927-B_T2 871-875 https://acgg.asia/db/ggdb/info/gg187 denotes FCMD
PD-GlycoGenes20190927-B_T3 923-927 https://acgg.asia/db/ggdb/info/gg187 denotes FCMD
PD-GlycoGenes20190927-B_T4 1156-1160 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP
PD-GlycoGenes20190927-B_T5 1243-1247 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP
PD-GlycoGenes20190927-B_T6 1308-1312 https://acgg.asia/db/ggdb/info/gg188 denotes FKRP

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
11592034-0#17#40#gene79147 17-40 gene79147 denotes fukutin-related protein
11592034-0#170#188#gene1605 170-188 gene1605 denotes alpha-dystroglycan
11592034-0#69#98#diseaseC0699743 69-98 diseaseC0699743 denotes congenital muscular dystrophy
11592034-4#99#104#gene53368 770-775 gene53368 denotes MDC1B
11592034-4#151#175#diseaseC0457133 822-846 diseaseC0457133 denotes muscle-eye-brain disease
11592034-4#177#180#diseaseC0457133 848-851 diseaseC0457133 denotes MEB
11592034-4#186#198#diseaseC0410174 857-869 diseaseC0410174 denotes Fukuyama CMD
11592034-4#200#204#diseaseC0410174 871-875 diseaseC0410174 denotes FCMD
17#40#gene7914769#98#diseaseC0699743 11592034-0#17#40#gene79147 11592034-0#69#98#diseaseC0699743 associated_with fukutin-related protein,congenital muscular dystrophy
170#188#gene160569#98#diseaseC0699743 11592034-0#170#188#gene1605 11592034-0#69#98#diseaseC0699743 associated_with alpha-dystroglycan,congenital muscular dystrophy
99#104#gene53368151#175#diseaseC0457133 11592034-4#99#104#gene53368 11592034-4#151#175#diseaseC0457133 associated_with MDC1B,muscle-eye-brain disease
99#104#gene53368177#180#diseaseC0457133 11592034-4#99#104#gene53368 11592034-4#177#180#diseaseC0457133 associated_with MDC1B,MEB
99#104#gene53368186#198#diseaseC0410174 11592034-4#99#104#gene53368 11592034-4#186#198#diseaseC0410174 associated_with MDC1B,Fukuyama CMD
99#104#gene53368200#204#diseaseC0410174 11592034-4#99#104#gene53368 11592034-4#200#204#diseaseC0410174 associated_with MDC1B,FCMD

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 194-225 HP:0003741 denotes congenital muscular dystrophies
TI1 69-98 HP:0003741 denotes congenital muscular dystrophy
AB2 318-333 HP:0001324 denotes muscle weakness
TI2 144-166 HP:0012345 denotes abnormal glycosylation
AB3 1452-1469 HP:0002540 denotes inability to walk

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 410-415 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T2 833-838 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T3 900-905 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T4 1545-1550 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T5 829-832 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eye
PD-UBERON-AE-B_T6 1272-1278 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T7 1511-1516 http://purl.obolibrary.org/obo/UBERON_0001977 denotes serum

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 770-775 ORDO:98893 denotes MDC1B
AB2 822-846 ORDO:588 denotes muscle-eye-brain disease

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-189 Sentence denotes Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
TextSentencer_T2 190-398 Sentence denotes The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic changes on skeletal-muscle biopsy.
TextSentencer_T3 399-510 Sentence denotes Structural brain defects, with or without mental retardation, are additional features of several CMD syndromes.
TextSentencer_T4 511-670 Sentence denotes Approximately 40% of patients with CMD have a primary deficiency (MDC1A) of the laminin alpha2 chain of merosin (laminin-2) due to mutations in the LAMA2 gene.
TextSentencer_T5 671-918 Sentence denotes In addition, a secondary deficiency of laminin alpha2 is apparent in some CMD syndromes, including MDC1B, which is mapped to chromosome 1q42, and both muscle-eye-brain disease (MEB) and Fukuyama CMD (FCMD), two forms with severe brain involvement.
TextSentencer_T6 919-1056 Sentence denotes The FCMD gene encodes a protein of unknown function, fukutin, though sequence analysis predicts it to be a phosphoryl-ligand transferase.
TextSentencer_T7 1057-1200 Sentence denotes Here we identify the gene for a new member of the fukutin protein family (fukutin related protein [FKRP]), mapping to human chromosome 19q13.3.
TextSentencer_T8 1201-1290 Sentence denotes We report the genomic organization of the FKRP gene and its pattern of tissue expression.
TextSentencer_T9 1291-1574 Sentence denotes Mutations in the FKRP gene have been identified in seven families with CMD characterized by disease onset in the first weeks of life and a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function.
TextSentencer_T10 1575-1652 Sentence denotes Affected individuals had a secondary deficiency of laminin alpha2 expression.
TextSentencer_T11 1653-1810 Sentence denotes In addition, they had both a marked decrease in immunostaining of muscle alpha-dystroglycan and a reduction in its molecular weight on western blot analysis.
TextSentencer_T12 1811-1954 Sentence denotes We suggest these abnormalities of alpha-dystroglycan are caused by its defective glycosylation and are integral to the pathology seen in MDC1C.
T1 0-189 Sentence denotes Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
T2 190-398 Sentence denotes The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic changes on skeletal-muscle biopsy.
T3 399-510 Sentence denotes Structural brain defects, with or without mental retardation, are additional features of several CMD syndromes.
T4 511-670 Sentence denotes Approximately 40% of patients with CMD have a primary deficiency (MDC1A) of the laminin alpha2 chain of merosin (laminin-2) due to mutations in the LAMA2 gene.
T5 671-918 Sentence denotes In addition, a secondary deficiency of laminin alpha2 is apparent in some CMD syndromes, including MDC1B, which is mapped to chromosome 1q42, and both muscle-eye-brain disease (MEB) and Fukuyama CMD (FCMD), two forms with severe brain involvement.
T6 919-1056 Sentence denotes The FCMD gene encodes a protein of unknown function, fukutin, though sequence analysis predicts it to be a phosphoryl-ligand transferase.
T7 1057-1200 Sentence denotes Here we identify the gene for a new member of the fukutin protein family (fukutin related protein [FKRP]), mapping to human chromosome 19q13.3.
T8 1201-1290 Sentence denotes We report the genomic organization of the FKRP gene and its pattern of tissue expression.
T9 1291-1574 Sentence denotes Mutations in the FKRP gene have been identified in seven families with CMD characterized by disease onset in the first weeks of life and a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function.
T10 1575-1652 Sentence denotes Affected individuals had a secondary deficiency of laminin alpha2 expression.
T11 1653-1810 Sentence denotes In addition, they had both a marked decrease in immunostaining of muscle alpha-dystroglycan and a reduction in its molecular weight on western blot analysis.
T12 1811-1954 Sentence denotes We suggest these abnormalities of alpha-dystroglycan are caused by its defective glycosylation and are integral to the pathology seen in MDC1C.

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1272-1278 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T2 1223-1235 http://purl.obolibrary.org/obo/UBERON_0000062 denotes organization
PD-UBERON-AE-B_T3 829-832 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eye
PD-UBERON-AE-B_T4 1511-1516 http://purl.obolibrary.org/obo/UBERON_0001977 denotes serum
PD-UBERON-AE-B_T5 410-415 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T6 833-838 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T7 900-905 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T8 1545-1550 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain

DisGeNET

Id Subject Object Predicate Lexical cue
T0 770-775 gene:53368 denotes MDC1B
T1 822-846 disease:C0457133 denotes muscle-eye-brain disease
T2 770-775 gene:53368 denotes MDC1B
T3 848-851 disease:C0457133 denotes MEB
T4 770-775 gene:53368 denotes MDC1B
T5 857-869 disease:C0410174 denotes Fukuyama CMD
T6 770-775 gene:53368 denotes MDC1B
T7 871-875 disease:C0410174 denotes FCMD
R1 T0 T1 associated_with MDC1B,muscle-eye-brain disease
R2 T2 T3 associated_with MDC1B,MEB
R3 T4 T5 associated_with MDC1B,Fukuyama CMD
R4 T6 T7 associated_with MDC1B,FCMD