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In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Analysis of the intragenic polymorphism D17S855 supports common origins of the mutations .
### Output Text: | Analysis of the intragenic polymorphism D17S855 supports common origins of the mutations . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Eleven of the 15 kindreds manifesting BRCA1 mutations were breast - ovarian cancer families , several of them with a predominant ovarian cancer phenotype .
### Output Text: | Eleven of the 15 kindreds manifesting BRCA1 mutations were <span class="disease">breast - ovarian cancer</span> families , several of them with a predominant <span class="disease">ovarian cancer</span> phenotype . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The set of 32 families in which no BRCA1 alterations were detected included 1 breast - ovarian cancer kindred manifesting clear linkage to the BRCA1 region and loss of the wild - type chromosome in associated tumors .
### Output Text: | The set of 32 families in which no BRCA1 alterations were detected included 1 <span class="disease">breast - ovarian cancer</span> kindred manifesting clear linkage to the BRCA1 region and loss of the wild - type chromosome in associated <span class="disease">tumors</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Other tumor types found in BRCA1 mutation / haplotype carriers included prostatic , pancreas , skin , and lung cancer , a malignant melanoma , an oligodendroglioma , and a carcinosarcoma .
### Output Text: | Other <span class="disease">tumor</span> types found in BRCA1 mutation / haplotype carriers included <span class="disease">prostatic , pancreas , skin , and lung cancer</span> , a <span class="disease">malignant melanoma</span> , an <span class="disease">oligodendroglioma</span> , and a <span class="disease">carcinosarcoma</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In all , 12 of 16 kindreds manifesting BRCA1 mutation or linkage contained ovarian cancer , as compared with only 6 of the remaining 31 families ( P < . 001 ) .
### Output Text: | In all , 12 of 16 kindreds manifesting BRCA1 mutation or linkage contained <span class="disease">ovarian cancer</span> , as compared with only 6 of the remaining 31 families ( P < . 001 ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The present study confirms the involvement of BRCA1 in disease predisposition for a subset of hereditary breast cancer families often characterized by ovarian cancers .
### Output Text: | The present study confirms the involvement of BRCA1 in disease predisposition for a subset of <span class="disease">hereditary breast cancer</span> families often characterized by <span class="disease">ovarian cancers</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Rapid detection of regionally clustered germ - line BRCA1 mutations by multiplex heteroduplex analysis .
### Output Text: | Rapid detection of regionally clustered germ - line BRCA1 mutations by multiplex heteroduplex analysis . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: UKCCCR Familial Ovarian Cancer Study Group .
### Output Text: | UKCCCR Familial <span class="disease">Ovarian Cancer</span> Study Group . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Germ - line mutations of the BRCA1 gene are responsible for a substantial proportion of families with multiple cases of early - onset breast and / or ovarian cancer .
### Output Text: | Germ - line mutations of the BRCA1 gene are responsible for a substantial proportion of families with multiple cases of early - onset <span class="disease">breast and / or ovarian cancer</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Since the isolation of BRCA1 last year , > 65 distinct mutations scattered throughout the coding region have been detected , making analysis of the gene time consuming and technically challenging .
### Output Text: | Since the isolation of BRCA1 last year , > 65 distinct mutations scattered throughout the coding region have been detected , making analysis of the gene time consuming and technically challenging . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We have developed a multiplex heteroduplex analysis that is designed to analyze one - quarter of the coding sequence in a single - step screening procedure and that will detect approximately 50 % of all BRCA1 mutations so far reported in breast / ovarian cancer families .
### Output Text: | We have developed a multiplex heteroduplex analysis that is designed to analyze one - quarter of the coding sequence in a single - step screening procedure and that will detect approximately 50 % of all BRCA1 mutations so far reported in <span class="disease">breast / ovarian cancer</span> families . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We have used this technique to analyze BRCA1 in 162 families with a history of breast and / or ovarian cancer and identified 12 distinct mutations in 35 families . .
### Output Text: | We have used this technique to analyze BRCA1 in 162 families with a history of <span class="disease">breast and / or ovarian cancer</span> and identified 12 distinct mutations in 35 families . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li - Fraumeni syndrome .
### Output Text: | A previously undescribed mutation within the tetramerisation domain of TP53 in a family with <span class="disease">Li - Fraumeni syndrome</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We report details of a family with classic Li - Fraumeni syndrome in which there is a mutation in codon 344 of the tumour suppressor gene TP53 .
### Output Text: | We report details of a family with classic <span class="disease">Li - Fraumeni syndrome</span> in which there is a mutation in codon 344 of the <span class="disease">tumour</span> suppressor gene TP53 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Codon 344 is a key residue within the tetramerisation domain , and the amino acid substitution of a proline for a leucine is predicted to have profound implications for tetramerisation and potentially DNA binding .
### Output Text: | Codon 344 is a key residue within the tetramerisation domain , and the amino acid substitution of a proline for a leucine is predicted to have profound implications for tetramerisation and potentially DNA binding . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: This is the first report of a mutation at this residue in either sporadic tumours or in the germline and the first report of a germline mutation within the tetramerisation domain .
### Output Text: | This is the first report of a mutation at this residue in either <span class="disease">sporadic tumours</span> or in the germline and the first report of a germline mutation within the tetramerisation domain . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The family does not appear to be remarkable in the spectrum of tumours , and there is loss of the wild - type allele in a leiomyosarcoma from the proband .
### Output Text: | The family does not appear to be remarkable in the spectrum of <span class="disease">tumours</span> , and there is loss of the wild - type allele in a <span class="disease">leiomyosarcoma</span> from the proband . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: A cell line has been established from the tumour of the proband and cytogenetic and molecular studies carried out , providing an extensive analysis in this family . .
### Output Text: | A cell line has been established from the <span class="disease">tumour</span> of the proband and cytogenetic and molecular studies carried out , providing an extensive analysis in this family . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The spectrum of RB1 germ - line mutations in hereditary retinoblastoma .
### Output Text: | The spectrum of RB1 germ - line mutations in <span class="disease">hereditary retinoblastoma</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We have searched for germ - line RB1 mutations in 119 patients with hereditary retinoblastoma .
### Output Text: | We have searched for germ - line RB1 mutations in 119 patients with <span class="disease">hereditary retinoblastoma</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Previous investigations by Southern blot hybridization and PCR fragment - length analysis had revealed mutations in 48 patients .
### Output Text: | Previous investigations by Southern blot hybridization and PCR fragment - length analysis had revealed mutations in 48 patients . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Here we report on the analysis of the remaining 71 patients .
### Output Text: | Here we report on the analysis of the remaining 71 patients . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: By applying heteroduplex analysis , nonisotopic SSCP , and direct sequencing , we detected germ - line mutations resulting in premature termination codons or disruption of splice signals in 51 ( 72 % ) of the 71 patients .
### Output Text: | By applying heteroduplex analysis , nonisotopic SSCP , and direct sequencing , we detected germ - line mutations resulting in premature termination codons or disruption of splice signals in 51 ( 72 % ) of the 71 patients . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Four patients also showed rare sequence variants .
### Output Text: | Four patients also showed rare sequence variants . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: No region of the RB1 gene was preferentially involved in single base substitutions .
### Output Text: | No region of the RB1 gene was preferentially involved in single base substitutions . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Recurrent transitions were observed at most of the 14 codons within the RB1 .
### Output Text: | Recurrent transitions were observed at most of the 14 codons within the RB1 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: No mutation was observed in exons 25 - 27 , although this region contains two CGA codons .
### Output Text: | No mutation was observed in exons 25 - 27 , although this region contains two CGA codons . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: This suggests that mutations within the 3 - terminal region of the RB1 gene may not be oncogenic .
### Output Text: | This suggests that mutations within the 3 - terminal region of the RB1 gene may not be oncogenic . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: When these data were combined with the results of our previous investigations , mutations were identified in a total of 99 ( 83 % ) of 119 patients .
### Output Text: | When these data were combined with the results of our previous investigations , mutations were identified in a total of 99 ( 83 % ) of 119 patients . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The spectrum comprises 15 % large deletions , 26 % small length alterations , and 42 % base substitutions .
### Output Text: | The spectrum comprises 15 % large deletions , 26 % small length alterations , and 42 % base substitutions . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: No correlation between the location of frameshift or nonsense mutations and phenotypic features , including age at diagnosis , the number of tumor foci , and manifestation of nonocular tumors was observed . .
### Output Text: | No correlation between the location of frameshift or nonsense mutations and phenotypic features , including age at diagnosis , the number of <span class="disease">tumor</span> foci , and manifestation of <span class="disease">nonocular tumors</span> was observed . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Phenotypic characterization of individuals with 30 - 40 CAG repeats in the Huntington disease ( HD ) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36 - 39 repeats .
### Output Text: | Phenotypic characterization of individuals with 30 - 40 CAG repeats in the <span class="disease">Huntington disease</span> ( <span class="disease">HD</span> ) gene reveals <span class="disease">HD</span> cases with 36 repeats and apparently normal elderly individuals with 36 - 39 repeats . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Abnormal CAG expansions in the IT - 15 gene are associated with Huntington disease ( HD ) .
### Output Text: | Abnormal CAG expansions in the IT - 15 gene are associated with <span class="disease">Huntington disease</span> ( <span class="disease">HD</span> ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In the diagnostic setting it is necessary to define the limits of the CAG size ranges on normal and HD - associated chromosomes .
### Output Text: | In the diagnostic setting it is necessary to define the limits of the CAG size ranges on normal and <span class="disease">HD</span> - associated chromosomes . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Most large analyses that defined the limits of the normal and pathological size ranges employed PCR assays , which included the CAG repeats and a CCG repeat tract that was thought to be invariant .
### Output Text: | Most large analyses that defined the limits of the normal and pathological size ranges employed PCR assays , which included the CAG repeats and a CCG repeat tract that was thought to be invariant . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Many of these experiments found an overlap between the normal and disease size ranges .
### Output Text: | Many of these experiments found an overlap between the normal and disease size ranges . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Subsequent findings that the CCG repeats vary by 8 trinucleotide lengths suggested that the limits of the normal and disease size ranges should be reevaluated with assays that exclude the CCG polymorphism .
### Output Text: | Subsequent findings that the CCG repeats vary by 8 trinucleotide lengths suggested that the limits of the normal and disease size ranges should be reevaluated with assays that exclude the CCG polymorphism . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Since patients with between 30 and 40 repeats are rare , a consortium was assembled to collect such individuals .
### Output Text: | Since patients with between 30 and 40 repeats are rare , a consortium was assembled to collect such individuals . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: All 178 samples were reanalyzed in Cambridge by using assays specific for the CAG repeats .
### Output Text: | All 178 samples were reanalyzed in Cambridge by using assays specific for the CAG repeats . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We have optimized methods for reliable sizing of CAG repeats and show cases that demonstrate the dangers of using PCR assays that include both the CAG and CCG polymorphisms .
### Output Text: | We have optimized methods for reliable sizing of CAG repeats and show cases that demonstrate the dangers of using PCR assays that include both the CAG and CCG polymorphisms . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Seven HD patients had 36 repeats , which confirms that this allele is associated with disease .
### Output Text: | Seven <span class="disease">HD</span> patients had 36 repeats , which confirms that this allele is associated with disease . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Individuals without apparent symptoms or signs of HD were found at 36 repeats ( aged 74 , 78 , 79 , and 87 years ) , 37 repeats ( aged 69 years ) , 38 repeats ( aged 69 and 90 years ) , and 39 repeats ( aged 67 , 90 , and 95 years ) .
### Output Text: | Individuals without apparent symptoms or signs of <span class="disease">HD</span> were found at 36 repeats ( aged 74 , 78 , 79 , and 87 years ) , 37 repeats ( aged 69 years ) , 38 repeats ( aged 69 and 90 years ) , and 39 repeats ( aged 67 , 90 , and 95 years ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The detailed case histories of an exceptional case from this series will be presented a 95 - year - old man with 39 repeats who did not have classical features of HD .
### Output Text: | The detailed case histories of an exceptional case from this series will be presented a 95 - year - old man with 39 repeats who did not have classical features of <span class="disease">HD</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The apparently healthy survival into old age of some individuals with 36 - 39 repeats suggests that the HD mutation may not always be fully penetrant . .
### Output Text: | The apparently healthy survival into old age of some individuals with 36 - 39 repeats suggests that the <span class="disease">HD</span> mutation may not always be fully penetrant . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Identification and expression of eight novel mutations among non - Jewish patients with Canavan disease .
### Output Text: | Identification and expression of eight novel mutations among non - Jewish patients with <span class="disease">Canavan disease</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Canavan disease is inherited as an autosomal recessive trait that is caused by the deficiency of aspartoacylase ( ASPA ) .
### Output Text: | <span class="disease">Canavan disease</span> is inherited as an autosomal recessive trait that is caused by the <span class="disease">deficiency of aspartoacylase</span> ( ASPA ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The majority of patients with Canavan disease are from an Ashkenazi Jewish background .
### Output Text: | The majority of patients with <span class="disease">Canavan disease</span> are from an Ashkenazi Jewish background . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Mutations in ASPA that lead to loss of enzymatic activity have been identified , and E285A and Y231X are the two predominant mutations that account for 97 % of the mutant chromosomes in Ashkenazi Jewish patients .
### Output Text: | Mutations in ASPA that lead to loss of enzymatic activity have been identified , and E285A and Y231X are the two predominant mutations that account for 97 % of the mutant chromosomes in Ashkenazi Jewish patients . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The current study was aimed at finding the molecular basis of Canavan disease in 25 independent patients of non - Jewish background .
### Output Text: | The current study was aimed at finding the molecular basis of <span class="disease">Canavan disease</span> in 25 independent patients of non - Jewish background . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Eight novel and three previously characterized mutations accounted for 80 % ( 40 / 50 ) of mutant chromosomes .
### Output Text: | Eight novel and three previously characterized mutations accounted for 80 % ( 40 / 50 ) of mutant chromosomes . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The A305E missense mutation accounted for 48 % ( 24 / 50 ) of mutant chromosomes in patients of western European descent , while the two predominant Jewish mutations each accounted for a single mutant chromosome .
### Output Text: | The A305E missense mutation accounted for 48 % ( 24 / 50 ) of mutant chromosomes in patients of western European descent , while the two predominant Jewish mutations each accounted for a single mutant chromosome . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The eight novel mutations identified included 1 - and 4 - bp deletions ( 32 deltaT and 876 deltaAGAA , respectively ) and I16T , G27R , D114E , G123E , C152Y , and R168C missense mutations .
### Output Text: | The eight novel mutations identified included 1 - and 4 - bp deletions ( 32 deltaT and 876 deltaAGAA , respectively ) and I16T , G27R , D114E , G123E , C152Y , and R168C missense mutations . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The homozygous 32 deltaT deletion was identified in the only known patient of African - American origin with Canavan disease .
### Output Text: | The homozygous 32 deltaT deletion was identified in the only known patient of African - American origin with <span class="disease">Canavan disease</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The heterozygosity for 876 deltaAGAA mutation was identified in three independent patients from England .
### Output Text: | The heterozygosity for 876 deltaAGAA mutation was identified in three independent patients from England . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Six single - base changes leading to missense mutations were identified in patients from Turkey ( D114E , R168C ) , The Netherlands ( I16T ) , Germany ( G27R ) , Ireland ( C152Y ) , and Canada ( G123E ) .
### Output Text: | Six single - base changes leading to missense mutations were identified in patients from Turkey ( D114E , R168C ) , The Netherlands ( I16T ) , Germany ( G27R ) , Ireland ( C152Y ) , and Canada ( G123E ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: A PCR - based protocol is described that was used to introduce mutations in wild - type cDNA .
### Output Text: | A PCR - based protocol is described that was used to introduce mutations in wild - type cDNA . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In vitro expression of mutant cDNA clones demonstrated that all of these mutations led to a deficiency of ASPA and should therefore result in Canavan disease . .
### Output Text: | In vitro expression of mutant cDNA clones demonstrated that all of these mutations led to a <span class="disease">deficiency of ASPA</span> and should therefore result in <span class="disease">Canavan disease</span> . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Identification and chromosomal localization of Atm , the mouse homolog of the ataxia - telangiectasia gene .
### Output Text: | Identification and chromosomal localization of Atm , the mouse homolog of the <span class="disease">ataxia - telangiectasia</span> gene . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Atm , the mouse homolog of the human ATM gene defective in ataxia - telangiectasia ( A - T ) , has been identified .
### Output Text: | Atm , the mouse homolog of the human ATM gene defective in <span class="disease">ataxia - telangiectasia</span> ( <span class="disease">A - T</span> ) , has been identified . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The entire coding sequence of the Atm transcript was cloned and found to contain an open reading frame encoding a protein of 3066 amino acids with 84 % overall identity and 91 % similarity to the human ATM protein .
### Output Text: | The entire coding sequence of the Atm transcript was cloned and found to contain an open reading frame encoding a protein of 3066 amino acids with 84 % overall identity and 91 % similarity to the human ATM protein . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Variable levels of expression of Atm were observed in different tissues .
### Output Text: | Variable levels of expression of Atm were observed in different tissues . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Fluorescence in situ hybridization and linkage analysis located the Atm gene on mouse chromosome 9 , band 9C , in a region homologous to the ATM region on human chromosome 11q22 - q23 . .
### Output Text: | Fluorescence in situ hybridization and linkage analysis located the Atm gene on mouse chromosome 9 , band 9C , in a region homologous to the ATM region on human chromosome 11q22 - q23 . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The mouse homolog of the Wiskott - Aldrich syndrome protein ( WASP ) gene is highly conserved and maps near the scurfy ( sf ) mutation on the X chromosome .
### Output Text: | The mouse homolog of the <span class="disease">Wiskott - Aldrich syndrome</span> protein ( WASP ) gene is highly conserved and maps near the scurfy ( sf ) mutation on the X chromosome . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The mouse WASP gene , the homolog of the gene mutated in Wiskott - Aldrich syndrome , has been isolated and sequenced . the predicted amino acid sequence is 86 % identical to the human WASP sequence .
### Output Text: | The mouse WASP gene , the homolog of the gene mutated in <span class="disease">Wiskott - Aldrich syndrome</span> , has been isolated and sequenced . the predicted amino acid sequence is 86 % identical to the human WASP sequence . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: A distinct feature of the mouse gene is an expanded polymorphic GGA trinucleotide repeat that codes for polyglycine and varies from 15 to 17 triplets in different Mus musculus strains .
### Output Text: | A distinct feature of the mouse gene is an expanded polymorphic GGA trinucleotide repeat that codes for polyglycine and varies from 15 to 17 triplets in different Mus musculus strains . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The genomic structure of the mouse WASP gene is expressed as an approximately 2 .
### Output Text: | The genomic structure of the mouse WASP gene is expressed as an approximately 2 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 4 - kb mRNA in thymus and spleen .
### Output Text: | 4 - kb mRNA in thymus and spleen . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Chromosomal mapping in an interspecific M .
### Output Text: | Chromosomal mapping in an interspecific M . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Musculus / M . spretus backcross placed the Wasp locus near the centromere of the mouse X chromosome , inseparable from Gata1 , Tcfe3 , and scurfy ( sf ) .
### Output Text: | Musculus / M . spretus backcross placed the Wasp locus near the centromere of the mouse X chromosome , inseparable from Gata1 , Tcfe3 , and scurfy ( sf ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: This localization makes Wasp a candidate for involvement in scurfy , a T cell - mediated fatal lymphoreticular disease of mice that has previously been proposed as a mouse homolog of Wiskott - Aldrich syndrome .
### Output Text: | This localization makes Wasp a candidate for involvement in scurfy , a T cell - mediated <span class="disease">fatal lymphoreticular disease</span> of mice that has previously been proposed as a mouse homolog of <span class="disease">Wiskott - Aldrich syndrome</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Northern analysis of sf tissue samples indicated the presence of WASP mRNA in liver and skin , presumably as a consequence of lymphocytic infiltration , but non abnormalities in the amount or size of mRNA present .
### Output Text: | Northern analysis of sf tissue samples indicated the presence of WASP mRNA in liver and skin , presumably as a consequence of lymphocytic infiltration , but non abnormalities in the amount or size of mRNA present . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Colchicine in breast milk of patients with familial Mediterranean fever .
### Output Text: | Colchicine in breast milk of patients with <span class="disease">familial Mediterranean fever</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: OBJECTIVE .
### Output Text: | OBJECTIVE . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: To clarify whether colchicine is excreted in breast milk , and to compare its concentrations in the serum and breast milk of lactating women who have familial Mediterranean fever ( FMF ) .
### Output Text: | To clarify whether colchicine is excreted in breast milk , and to compare its concentrations in the serum and breast milk of lactating women who have <span class="disease">familial Mediterranean fever</span> ( <span class="disease">FMF</span> ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: METHODS .
### Output Text: | METHODS . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Using a specific radioimmunoassay , we determined colchicine concentrations in the serum and breast milk of 4 patients at various time points , following oral administration of the drug .
### Output Text: | Using a specific radioimmunoassay , we determined colchicine concentrations in the serum and breast milk of 4 patients at various time points , following oral administration of the drug . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The study evaluated 4 patients with FMF who had been taking colchicine on a long - term basis .
### Output Text: | The study evaluated 4 patients with <span class="disease">FMF</span> who had been taking colchicine on a long - term basis . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: RESULTS .
### Output Text: | RESULTS . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Colchicine was found to be excreted in breast milk .
### Output Text: | Colchicine was found to be excreted in breast milk . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Its levels ranged between 1 .
### Output Text: | Its levels ranged between 1 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 9 and 8 .
### Output Text: | 9 and 8 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 6 ng / ml , which were similar to those found in the serum ( parallel concentration time curves ) .
### Output Text: | 6 ng / ml , which were similar to those found in the serum ( parallel concentration time curves ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: However , there appeared to be a considerable variation in colchicine milk concentration among the different patients , which might be related to individual breast milk composition and , possibly , to other nutritional or metabolic factors .
### Output Text: | However , there appeared to be a considerable variation in colchicine milk concentration among the different patients , which might be related to individual breast milk composition and , possibly , to other nutritional or metabolic factors . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: CONCLUSION .
### Output Text: | CONCLUSION . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The extensive peripheral tissue binding and relatively low concentration of colchicine in breast milk suggests that the amount ingested by the infant is small .
### Output Text: | The extensive peripheral tissue binding and relatively low concentration of colchicine in breast milk suggests that the amount ingested by the infant is small . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Furthermore , based on our clinical experience , nursing appears to be safe for lactating women with FMF who continue to take colchicine .
### Output Text: | Furthermore , based on our clinical experience , nursing appears to be safe for lactating women with <span class="disease">FMF</span> who continue to take colchicine . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice .
### Output Text: | Abnormal <span class="disease">myotonic dystrophy</span> protein kinase levels produce only mild <span class="disease">myopathy</span> in mice . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Myotonic dystrophy ( DM ) is commonly associated with CTG repeat expansions within the gene for DM - protein kinase ( DMPK ) .
### Output Text: | <span class="disease">Myotonic dystrophy</span> ( <span class="disease">DM</span> ) is commonly associated with CTG repeat expansions within the gene for DM - protein kinase ( DMPK ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The effect of altered expression levels of DMPK , which is ubiquitously expressed in all muscle cell lineages during development , was examined by disrupting the endogenous Dmpk gene and overexpressing a normal human DMPK transgene in mice .
### Output Text: | The effect of altered expression levels of DMPK , which is ubiquitously expressed in all muscle cell lineages during development , was examined by disrupting the endogenous Dmpk gene and overexpressing a normal human DMPK transgene in mice . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Nullizygous ( - / - ) mice showed only inconsistent and minor size changes in head and neck muscle fibres at older age , animals with the highest DMPK transgene expression showed hypertrophic cardiomyopathy and enhanced neonatal mortality .
### Output Text: | Nullizygous ( - / - ) mice showed only inconsistent and minor size changes in head and neck muscle fibres at older age , animals with the highest DMPK transgene expression showed <span class="disease">hypertrophic cardiomyopathy</span> and enhanced neonatal mortality . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: However , both models lack other frequent DM symptoms including the fibre - type dependent atrophy , myotonia , cataract and male - infertility .
### Output Text: | However , both models lack other frequent <span class="disease">DM</span> symptoms including the fibre - type dependent <span class="disease">atrophy</span> , <span class="disease">myotonia</span> , <span class="disease">cataract</span> and <span class="disease">male - infertility</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: These results strengthen the contention that simple loss - or gain - of - expression of DMPK is not the only crucial requirement for development of the disease . .
### Output Text: | These results strengthen the contention that simple loss - or gain - of - expression of DMPK is not the only crucial requirement for development of the disease . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy .
### Output Text: | Mice lacking the <span class="disease">myotonic dystrophy</span> protein kinase develop a late onset progressive <span class="disease">myopathy</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Myotonic dystrophy ( DM ) is an autosomal dominant disorder resulting from the expansion of a CTG repeat in the 3 untranslated region of a putative protein kinase ( DMPK ) .
### Output Text: | <span class="disease">Myotonic dystrophy</span> ( <span class="disease">DM</span> ) is an <span class="disease">autosomal dominant disorder</span> resulting from the expansion of a CTG repeat in the 3 untranslated region of a putative protein kinase ( DMPK ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: To elucidate the role of DMPK in DM pathogenesis we have developed Dmpk deficient ( Dmpk - / - ) mice .
### Output Text: | To elucidate the role of DMPK in <span class="disease">DM</span> pathogenesis we have developed <span class="disease">Dmpk deficient</span> ( Dmpk - / - ) mice . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Dmpk - / - mice develop a late - onset , progressive skeletal myopathy that shares some pathological features with DM .
### Output Text: | Dmpk - / - mice develop a late - onset , <span class="disease">progressive skeletal myopathy</span> that shares some pathological features with <span class="disease">DM</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Muscles from mature mice show variation in fibre size , increased fibre degeneration and fibrosis .
### Output Text: | Muscles from mature mice show variation in fibre size , increased <span class="disease">fibre degeneration</span> and <span class="disease">fibrosis</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Adult Dmpk - / - mice show ultrastructural changes in muscle and a 50 % decrease in force generation compared to young mice .
### Output Text: | Adult Dmpk - / - mice show ultrastructural changes in muscle and a 50 % decrease in force generation compared to young mice . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Our results indicate that DMPK may be necessary for the maintenance of skeletal muscle structure and function and suggest that a decrease in DMPK levels may contribute to DM pathology . .
### Output Text: | Our results indicate that DMPK may be necessary for the maintenance of skeletal muscle structure and function and suggest that a decrease in DMPK levels may contribute to <span class="disease">DM</span> pathology . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse .
### Output Text: | The <span class="disease">tumor</span> suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse . |