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PubMed:7643352 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-120 Sentence denotes A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
TextSentencer_T2 121-198 Sentence denotes X linked recessive deafness accounts for only 1.7% of all childhood deafness.
TextSentencer_T3 199-340 Sentence denotes Only a few of the at least 28 different X linked syndromes associated with hearing impairment have been characterised at the molecular level.
TextSentencer_T4 341-497 Sentence denotes In 1960, a large Norwegian family was reported with early onset progressive sensorineural deafness, which was indexed in McKusick as DFN-1, McKusick 304700.
TextSentencer_T5 498-549 Sentence denotes No associated symptoms were described at that time.
TextSentencer_T6 550-592 Sentence denotes This family has been restudied clinically.
TextSentencer_T7 593-772 Sentence denotes Extensive neurological, neurophysiological, neuroradiological, and biochemical, as well as molecular techniques, have been applied to characterise the X linked recessive syndrome.
TextSentencer_T8 773-978 Sentence denotes The family history and extensive characterisation of 16 affected males in five generations confirmed the X linked recessive inheritance and the postlingual progressive nature of the sensorineural deafness.
TextSentencer_T9 979-1070 Sentence denotes Some obligate carrier females showed signs of minor neuropathy and mild hearing impairment.
TextSentencer_T10 1071-1294 Sentence denotes Restudy of the original DFN-1 family showed that the deafness is part of a progressive X linked recessive syndrome, which includes visual disability leading to cortical blindness, dystonia, fractures, and mental deficiency.
TextSentencer_T11 1295-1417 Sentence denotes Linkage analysis indicated that the gene was linked to locus DXS101 in Xq22 with a lod score of 5.37 (zero recombination).
TextSentencer_T12 1418-1567 Sentence denotes Based on lod-1 support interval of the multipoint analysis, the gene is located in a region spanning from 5 cM proximal to 3 cM distal to this locus.
TextSentencer_T13 1568-1839 Sentence denotes As the proteolipid protein gene (PLP) is within this region and mutations have been shown to be associated with non-classical PMD (Pelizaeus-Merzbacher disease), such as complex X linked hereditary spastic paraplegia, PLP may represent a candidate gene for this disorder.
TextSentencer_T14 1840-2062 Sentence denotes This family represents a new syndrome (Mohr-Tranebjaerg syndrome, MTS) and provides significant new information about a new X linked recessive sydromic type of deafness which was previously thought to be isolated deafness.
T1 0-120 Sentence denotes A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
T2 121-198 Sentence denotes X linked recessive deafness accounts for only 1.7% of all childhood deafness.
T3 199-340 Sentence denotes Only a few of the at least 28 different X linked syndromes associated with hearing impairment have been characterised at the molecular level.
T4 341-497 Sentence denotes In 1960, a large Norwegian family was reported with early onset progressive sensorineural deafness, which was indexed in McKusick as DFN-1, McKusick 304700.
T5 498-549 Sentence denotes No associated symptoms were described at that time.
T6 550-592 Sentence denotes This family has been restudied clinically.
T7 593-772 Sentence denotes Extensive neurological, neurophysiological, neuroradiological, and biochemical, as well as molecular techniques, have been applied to characterise the X linked recessive syndrome.
T8 773-978 Sentence denotes The family history and extensive characterisation of 16 affected males in five generations confirmed the X linked recessive inheritance and the postlingual progressive nature of the sensorineural deafness.
T9 979-1070 Sentence denotes Some obligate carrier females showed signs of minor neuropathy and mild hearing impairment.
T10 1071-1294 Sentence denotes Restudy of the original DFN-1 family showed that the deafness is part of a progressive X linked recessive syndrome, which includes visual disability leading to cortical blindness, dystonia, fractures, and mental deficiency.
T11 1295-1417 Sentence denotes Linkage analysis indicated that the gene was linked to locus DXS101 in Xq22 with a lod score of 5.37 (zero recombination).
T12 1418-1567 Sentence denotes Based on lod-1 support interval of the multipoint analysis, the gene is located in a region spanning from 5 cM proximal to 3 cM distal to this locus.
T13 1568-1839 Sentence denotes As the proteolipid protein gene (PLP) is within this region and mutations have been shown to be associated with non-classical PMD (Pelizaeus-Merzbacher disease), such as complex X linked hereditary spastic paraplegia, PLP may represent a candidate gene for this disorder.
T14 1840-2062 Sentence denotes This family represents a new syndrome (Mohr-Tranebjaerg syndrome, MTS) and provides significant new information about a new X linked recessive sydromic type of deafness which was previously thought to be isolated deafness.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1095-1100 gene:1678 denotes DFN-1
T1 1231-1249 disease:C0155320 denotes cortical blindness
T2 1095-1100 gene:1678 denotes DFN-1
T3 1276-1293 disease:C0917816 denotes mental deficiency
R1 T0 T1 associated_with DFN-1,cortical blindness
R2 T2 T3 associated_with DFN-1,mental deficiency

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
7643352-12#126#129#gene5354 1694-1697 gene5354 denotes PMD
7643352-12#131#159#diseaseC0205711 1699-1727 diseaseC0205711 denotes Pelizaeus-Merzbacher disease
7643352-12#187#216#diseaseC0037773 1755-1784 diseaseC0037773 denotes hereditary spastic paraplegia
7643352-9#24#29#gene1678 1095-1100 gene1678 denotes DFN-1
7643352-9#160#178#diseaseC0155320 1231-1249 diseaseC0155320 denotes cortical blindness
7643352-9#205#222#diseaseC0917816 1276-1293 diseaseC0917816 denotes mental deficiency
126#129#gene5354131#159#diseaseC0205711 7643352-12#126#129#gene5354 7643352-12#131#159#diseaseC0205711 associated_with PMD,Pelizaeus-Merzbacher disease
126#129#gene5354187#216#diseaseC0037773 7643352-12#126#129#gene5354 7643352-12#187#216#diseaseC0037773 associated_with PMD,hereditary spastic paraplegia
24#29#gene1678160#178#diseaseC0155320 7643352-9#24#29#gene1678 7643352-9#160#178#diseaseC0155320 associated_with DFN-1,cortical blindness
24#29#gene1678205#222#diseaseC0917816 7643352-9#24#29#gene1678 7643352-9#205#222#diseaseC0917816 associated_with DFN-1,mental deficiency

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 796-805 http://purl.obolibrary.org/obo/UBERON_2000106 denotes extensive

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T563 1906-1909 gene:8201 denotes MTS
T564 2044-2061 disease:C3711374 denotes isolated deafness
R1 T563 T564 associated_with MTS,isolated deafness
R2 T563 T564 associated_with MTS,isolated deafness

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 48-57 HP:0000618 denotes blindness
TI2 59-67 HP:0001332 denotes dystonia
AB1 274-292 HP:0000365 denotes hearing impairment
AB2 1046-1069 HP:0012712 denotes mild hearing impairment
AB3 1240-1249 HP:0000618 denotes blindness
AB4 1251-1259 HP:0001332 denotes dystonia
AB5 1766-1784 HP:0001258 denotes spastic paraplegia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 1694-1697 ORDO:702 denotes PMD
AB2 1699-1727 ORDO:702 denotes Pelizaeus-Merzbacher disease
AB3 1879-1904 ORDO:52368 denotes Mohr-Tranebjaerg syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 593-602 http://purl.obolibrary.org/obo/UBERON_2000106 denotes Extensive
PD-UBERON-AE-B_T2 796-805 http://purl.obolibrary.org/obo/UBERON_2000106 denotes extensive