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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: The von Hippel - Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal .
### Output Text: | The <span class="disease">von Hippel - Lindau tumor</span> suppressor gene is required for cell cycle exit upon serum withdrawal . |
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 inactivation of the von Hippel - Lindau ( VHL ) tumor suppressor gene predisposes affected individuals to the human VHL cancer syndrome and is associated with sporadic renal cell carcinomas ( RCC ) and brain hemangioblastomas .
### Output Text: | The inactivation of the <span class="disease">von Hippel - Lindau ( VHL ) tumor</span> suppressor gene predisposes affected individuals to the human <span class="disease">VHL cancer syndrome</span> and is associated with <span class="disease">sporadic renal cell carcinomas</span> ( <span class="disease">RCC</span> ) and <span class="disease">brain hemangioblastomas</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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Use <span class="disease"> to denote a disease.
### Input Text: VHL - negative 786 - 0 RCC cells are tumorigenic in nude mice which is suppressed by the reintroduction of VHL .
### Output Text: | VHL - negative 786 - 0 <span class="disease">RCC</span> cells are tumorigenic in nude mice which is suppressed by the reintroduction of <span class="disease">VHL</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:
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### Input Text: Remarkably , this occurs without affecting the growth rate and cell cycle profile of these cells in culture .
### Output Text: | Remarkably , this occurs without affecting the growth rate and cell cycle profile of these cells in culture . |
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 786 - 0 cell line , like many cancer cells , fails to exit the cell cycle upon serum withdrawal .
### Output Text: | The 786 - 0 cell line , like many <span class="disease">cancer</span> cells , fails to exit the cell cycle upon serum withdrawal . |
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 , it is shown that reintroduction of the wild - type VHL gene restores the ability of VHL - negative RCC cancer cells to exit the cell cycle and enter G0 / quiescence in low serum .
### Output Text: | Here , it is shown that reintroduction of the wild - type <span class="disease">VHL</span> gene restores the ability of VHL - negative <span class="disease">RCC cancer</span> cells to exit the cell cycle and enter G0 / quiescence in low serum . |
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: Both VHL - positive and VHL - negative RCC cells exit the cell cycle by contact inhibition .
### Output Text: | Both VHL - positive and VHL - negative <span class="disease">RCC</span> cells exit the cell cycle by contact inhibition . |
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 cyclin - dependent kinase inhibitor , p27 , accumulates upon serum withdrawal , only in the presence of VHL , as a result of the stabilization of the protein .
### Output Text: | The cyclin - dependent kinase inhibitor , p27 , accumulates upon serum withdrawal , only in the presence of <span class="disease">VHL</span> , as a result of the stabilization of the 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We propose that the loss of wild - type VHL gene results in a specific cellular defect in serum - dependent growth control , which may initiate tumor formation .
### Output Text: | We propose that the loss of wild - type <span class="disease">VHL</span> gene results in a specific cellular defect in serum - dependent growth control , which may initiate <span class="disease">tumor</span> formation . |
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 is corrected by the reintroduction of wild - type VHL , implicating VHL as the first tumor suppressor involved in the regulation of cell cycle exit , which is consistent with its gatekeeper function in the kidney . .
### Output Text: | This is corrected by the reintroduction of wild - type <span class="disease">VHL</span> , implicating <span class="disease">VHL</span> as the first <span class="disease">tumor</span> suppressor involved in the regulation of cell cycle exit , which is consistent with its gatekeeper function in the kidney . . |
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: Piebaldism with deafness : molecular evidence for an expanded syndrome .
### Output Text: | <span class="disease">Piebaldism</span> with <span class="disease">deafness</span> : molecular evidence for an expanded syndrome . |
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: In a South African girl of Xhosa stock with severe piebaldism and profound congenital sensorineural deafness we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto - oncogene , R796G .
### Output Text: | In a South African girl of Xhosa stock with severe <span class="disease">piebaldism</span> and profound congenital <span class="disease">sensorineural deafness</span> we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto - oncogene , R796G . |
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: Though auditory anomalies have been observed in mice with dominant white spotting ( W ) due to KIT mutations , deafness is not typical in human piebaldism .
### Output Text: | Though <span class="disease">auditory anomalies</span> have been observed in mice with dominant white spotting ( W ) due to KIT mutations , <span class="disease">deafness</span> is not typical in human <span class="disease">piebaldism</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: Thus , the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome . .
### Output Text: | Thus , the occurrence of <span class="disease">sensorineural deafness</span> in this patient extends considerably the phenotypic range of <span class="disease">piebaldism</span> due to KIT gene mutation in humans and tightens the clinical similarity between <span class="disease">piebaldism</span> and the various forms of <span class="disease">Waardenburg 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: Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice - site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa .
### Output Text: | Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice - site mutation in COL17A1 in a patient with generalized <span class="disease">atrophic benign epidermolysis bullosa</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: Patients with generalized atrophic benign epidermolysis bullosa often show decreased expression of type XVII collagen , a transmembrane hemidesmosomal protein encoded by COL17A1 .
### Output Text: | Patients with generalized <span class="disease">atrophic benign epidermolysis bullosa</span> often show decreased expression of type XVII collagen , a transmembrane hemidesmosomal protein encoded by COL17A1 . |
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 report documents a novel splice - site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa , and applies a new methodology to define and characterize the resulting mRNA splice variants .
### Output Text: | This report documents a novel splice - site mutation in COL17A1 in a patient with generalized <span class="disease">atrophic benign epidermolysis bullosa</span> , and applies a new methodology to define and characterize the resulting mRNA splice 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.
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### Input Text: Mutational analysis of COL17A1 identified a maternally inherited G - to - T transversion at the - 1 position of exon 32 .
### Output Text: | Mutational analysis of COL17A1 identified a maternally inherited G - to - T transversion at the - 1 position of exon 32 . |
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 acceptor splice - site mutation led to the formation of aberrant transcripts present at extremely low levels .
### Output Text: | This acceptor splice - site mutation led to the formation of aberrant transcripts present at extremely low levels . |
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: Based on our recent finding that cycloheximide stabilized mutant COL17A1 transcripts in keratinocytes homozygous for a frameshift mutation , the effects of the splice - site mutation on splicing of COL17A1 transcripts were determined using reverse transcriptase polymerase chain reaction of total RNA from keratinocytes incubated for 2 .
### Output Text: | Based on our recent finding that cycloheximide stabilized mutant COL17A1 transcripts in keratinocytes homozygous for a frameshift mutation , the effects of the splice - site mutation on splicing of COL17A1 transcripts were determined using reverse transcriptase polymerase chain reaction of total RNA from keratinocytes incubated for 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: 5 h in the presence or absence of 10 microg cycloheximide per ml .
### Output Text: | 5 h in the presence or absence of 10 microg cycloheximide per ml . |
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 this approach , an abnormally spliced transcript was identified that contains an extra 264 bases upstream from exon 32 , resulting in a premature termination codon 27 bp downstream from the cryptic splice site .
### Output Text: | Using this approach , an abnormally spliced transcript was identified that contains an extra 264 bases upstream from exon 32 , resulting in a premature termination codon 27 bp downstream from the cryptic splice site . |
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: Three other splice variants , including one derived from the skipping of exon 32 , were also identified .
### Output Text: | Three other splice variants , including one derived from the skipping of exon 32 , were also 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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Use <span class="disease"> to denote a disease.
### Input Text: These results indicate the usefulness of cycloheximide treatment in evaluating the abnormal processing of mRNA due to splice - site mutations , because ( i ) aberrant splicing often generates a premature termination codon , ( ii ) transcripts with premature termination codons can occur at low or undetectable levels due to nonsense - mediated mRNA decay , and ( iii ) the levels of these transcripts can be increased by cycloheximide .
### Output Text: | These results indicate the usefulness of cycloheximide treatment in evaluating the abnormal processing of mRNA due to splice - site mutations , because ( i ) aberrant splicing often generates a premature termination codon , ( ii ) transcripts with premature termination codons can occur at low or undetectable levels due to nonsense - mediated mRNA decay , and ( iii ) the levels of these transcripts can be increased by cycloheximide . |
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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Use <span class="disease"> to denote a disease.
### Input Text: A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele .
### Output Text: | A deletion mutation in COL17A1 in five Austrian families with generalized <span class="disease">atrophic benign epidermolysis bullosa</span> represents propagation of an ancestral allele . |
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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Use <span class="disease"> to denote a disease.
### Input Text: Patients with generalized atrophic benign epidermolysis bullosa , a usually nonlethal form of junctional epidermolysis bullosa , have generalized blistering , nail dystrophy , patchy alopecia , and dental abnormalities .
### Output Text: | Patients with generalized <span class="disease">atrophic benign epidermolysis bullosa</span> , a usually nonlethal form of <span class="disease">junctional epidermolysis bullosa</span> , have generalized <span class="disease">blistering</span> , <span class="disease">nail dystrophy</span> , <span class="disease">patchy alopecia</span> , and <span class="disease">dental abnormalities</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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Use <span class="disease"> to denote a disease.
### Input Text: Skin fragility in most cases is due to mutations in the gene encoding type XVII collagen ( COL17A1 ) .
### Output Text: | <span class="disease">Skin fragility</span> in most cases is due to mutations in the gene encoding type XVII collagen ( COL17A1 ) . |
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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Use <span class="disease"> to denote a disease.
### Input Text: Recently , we reported five Austrian families with generalized atrophic benign epidermolysis bullosa who share the same COL17A1 mutation .
### Output Text: | Recently , we reported five Austrian families with generalized <span class="disease">atrophic benign epidermolysis bullosa</span> who share the same COL17A1 mutation . |
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: Affected individuals in three families are homozygous for 4003delTC , whereas those in two others are compound heterozygotes .
### Output Text: | Affected individuals in three families are homozygous for 4003delTC , whereas those in two others are compound heterozygotes . |
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 determine if the occurrence of 4003delTC in these unrelated families signifies propagation of an ancestral allele or a mutational hot spot , haplotypes were determined for polymorphisms both within and flanking COL17A1 .
### Output Text: | To determine if the occurrence of 4003delTC in these unrelated families signifies propagation of an ancestral allele or a mutational hot spot , haplotypes were determined for polymorphisms both within and flanking COL17A1 . |
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: Five intragenic polymorphisms were chosen based on their informativeness .
### Output Text: | Five intragenic polymorphisms were chosen based on their informativeness . |
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: One of these , not previously reported , was 2988 A or C that introduces a new restriction site for Eco0109 I .
### Output Text: | One of these , not previously reported , was 2988 A or C that introduces a new restriction site for Eco0109 I . |
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: All the 4003delTC alleles showed the same haplotype for these five polymorphic markers .
### Output Text: | All the 4003delTC alleles showed the same haplotype for these five polymorphic markers . |
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: Fourteen microsatellite polymorphisms were selected based on their high heterozygosity and their location within 10q23 - q25 near COL17A1 .
### Output Text: | Fourteen microsatellite polymorphisms were selected based on their high heterozygosity and their location within 10q23 - q25 near COL17A1 . |
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: Three families shared microsatellite polymorphisms covering at most 19 cM , whereas the others shared smaller regions consistent with cross - over events during passage of this mutation through several generations .
### Output Text: | Three families shared microsatellite polymorphisms covering at most 19 cM , whereas the others shared smaller regions consistent with cross - over events during passage of this mutation through several generations . |
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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Use <span class="disease"> to denote a disease.
### Input Text: These results indicate that 4003delTC occurs on a single ancestral allele . .
### Output Text: | These results indicate that 4003delTC occurs on a single ancestral allele . . |
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 haptoglobin - gene deletion responsible for anhaptoglobinemia .
### Output Text: | The haptoglobin - gene deletion responsible for <span class="disease">anhaptoglobinemia</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: We have found an allelic deletion of the haptoglobin ( Hp ) gene from an individual with anhaptoglobinemia .
### Output Text: | We have found an allelic deletion of the haptoglobin ( Hp ) gene from an individual with <span class="disease">anhaptoglobinemia</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: The Hp gene cluster consists of coding regions of the alpha chain and beta chain of the haptoglobin gene ( Hp ) and of the alpha chain and beta chain of the haptoglobin - related gene ( Hpr ) , in tandem from the 5 side .
### Output Text: | The Hp gene cluster consists of coding regions of the alpha chain and beta chain of the haptoglobin gene ( Hp ) and of the alpha chain and beta chain of the haptoglobin - related gene ( Hpr ) , in tandem from the 5 side . |
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: Southern blot and PCR analyses have indicated that the individual with anhaptoglobinemia was homozygous for the gene deletion and that the gene deletion was included at least from the promoter region of Hp to Hpr alpha but not to Hpr beta ( Hpdel ) .
### Output Text: | Southern blot and PCR analyses have indicated that the individual with <span class="disease">anhaptoglobinemia</span> was homozygous for the gene deletion and that the gene deletion was included at least from the promoter region of Hp to Hpr alpha but not to Hpr beta ( Hpdel ) . |
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: In addition , we found seven individuals with hypohaptoglobinemia in three families , and the genotypes of six of the seven individuals were found to be Hp2 / Hpdel .
### Output Text: | In addition , we found seven individuals with <span class="disease">hypohaptoglobinemia</span> in three families , and the genotypes of six of the seven individuals were found to be Hp2 / Hpdel . |
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 phenotypes and genotypes in one of these three families showed the father to be hypohaptoglobinemic ( Hp2 ) and Hp2 / Hpdel , the mother to be Hp2 - 1 and Hp1 / Hp2 , one of the two children to be hypohaptoglobinemic ( Hp2 ) and Hp2 / Hpdel , and the other child to be Hp1 and Hp1 / Hpdel , showing an anomalous inheritance of Hp phenotypes in the child with Hp1 .
### Output Text: | The phenotypes and genotypes in one of these three families showed the father to be <span class="disease">hypohaptoglobinemic</span> ( Hp2 ) and Hp2 / Hpdel , the mother to be Hp2 - 1 and Hp1 / Hp2 , one of the two children to be <span class="disease">hypohaptoglobinemic</span> ( Hp2 ) and Hp2 / Hpdel , and the other child to be Hp1 and Hp1 / Hpdel , showing an anomalous inheritance of Hp phenotypes in the child with Hp1 . |
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 Hp2 / Hpdel individuals had an extremely low level of Hp ( mean + / - SD = 0 . 049 + / - 0 . 043 mg / ml ; n = 6 ) , compared with the level ( 1 . 64 + / - 1 . 07 mg / ml ) obtained from 52 healthy volunteers having phenotype Hp2 , whereas the serum Hp level of an individual with Hp1 / Hpdel was 0 .
### Output Text: | The Hp2 / Hpdel individuals had an extremely low level of Hp ( mean + / - SD = 0 . 049 + / - 0 . 043 mg / ml ; n = 6 ) , compared with the level ( 1 . 64 + / - 1 . 07 mg / ml ) obtained from 52 healthy volunteers having phenotype Hp2 , whereas the serum Hp level of an individual with Hp1 / Hpdel was 0 . |
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: 50 mg / ml , which was approximately half the level of Hp in control sera from the Hp1 phenotype ( 1 . 26 + / - 0 . 33 mg / ml ; n = 9 ) , showing a gene - dosage effect .
### Output Text: | 50 mg / ml , which was approximately half the level of Hp in control sera from the Hp1 phenotype ( 1 . 26 + / - 0 . 33 mg / ml ; n = 9 ) , showing a gene - dosage effect . |
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 other allele ( Hp2 ) of individuals with Hp2 / Hpdel was found to have , in all exons , no mutation , by DNA sequencing .
### Output Text: | The other allele ( Hp2 ) of individuals with Hp2 / Hpdel was found to have , in all exons , no mutation , by DNA sequencing . |
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: On the basis of the present study , the mechanism of anhaptoglobinemia and the mechanism of anomalous inheritance of Hp phenotypes were well explained .
### Output Text: | On the basis of the present study , the mechanism of <span class="disease">anhaptoglobinemia</span> and the mechanism of anomalous inheritance of Hp phenotypes were well explained . |
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 , the mechanism of hypohaptoglobinemia remains unknown
### Output Text: | However , the mechanism of <span class="disease">hypohaptoglobinemia</span> remains unknown |
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: ATM mutations and phenotypes in ataxia - telangiectasia families in the British Isles : expression of mutant ATM and the risk of leukemia , lymphoma , and breast cancer .
### Output Text: | ATM mutations and phenotypes in <span class="disease">ataxia - telangiectasia</span> families in the British Isles : expression of mutant ATM and the risk of <span class="disease">leukemia</span> , <span class="disease">lymphoma</span> , and <span class="disease">breast 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.
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### Input Text: We report the spectrum of 59 ATM mutations observed in ataxia - telangiectasia ( A - T ) patients in the British Isles .
### Output Text: | We report the spectrum of 59 ATM mutations observed in <span class="disease">ataxia - telangiectasia</span> ( <span class="disease">A - T</span> ) patients in the British Isles . |
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: Of 51 ATM mutations identified in families native to the British Isles , 11 were founder mutations , and 2 of these 11 conferred a milder clinical phenotype with respect to both cerebellar degeneration and cellular features .
### Output Text: | Of 51 ATM mutations identified in families native to the British Isles , 11 were founder mutations , and 2 of these 11 conferred a milder clinical phenotype with respect to both <span class="disease">cerebellar degeneration</span> and cellular features . |
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: We report , in two A - T families , an ATM mutation ( 7271T - - > G ) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes ( relative risk 12 . 7 ; P = . 0025 ) , although there is a less severe A - T phenotype in terms of the degree of cerebellar degeneration .
### Output Text: | We report , in two <span class="disease">A - T</span> families , an ATM mutation ( 7271T - - > G ) that may be associated with an increased risk of <span class="disease">breast cancer</span> in both homozygotes and heterozygotes ( relative risk 12 . 7 ; P = . 0025 ) , although there is a less severe <span class="disease">A - T</span> phenotype in terms of the degree of <span class="disease">cerebellar degeneration</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: This mutation ( 7271T - - > G ) also allows expression of full - length ATM protein at a level comparable with that in unaffected individuals .
### Output Text: | This mutation ( 7271T - - > G ) also allows expression of full - length ATM protein at a level comparable with that in unaffected 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.
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### Input Text: In addition , we have studied 18 A - T patients , in 15 families , who developed leukemia , lymphoma , preleukemic T - cell proliferation , or Hodgkin lymphoma , mostly in childhood .
### Output Text: | In addition , we have studied 18 <span class="disease">A - T</span> patients , in 15 families , who developed <span class="disease">leukemia</span> , <span class="disease">lymphoma</span> , preleukemic T - cell proliferation , or <span class="disease">Hodgkin lymphoma</span> , mostly in childhood . |
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 wide variety of ATM mutation types , including missense mutations and in - frame deletions , were seen in these patients .
### Output Text: | A wide variety of ATM mutation types , including missense mutations and in - frame deletions , were seen in these 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.
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### Input Text: We also show that 25 % of all A - T patients carried in - frame deletions or missense mutations , many of which were also associated with expression of mutant ATM protein .
### Output Text: | We also show that 25 % of all <span class="disease">A - T</span> patients carried in - frame deletions or missense mutations , many of which were also associated with expression of mutant 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: The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat .
### Output Text: | The DMPK gene of severely affected <span class="disease">myotonic dystrophy</span> patients is hypermethylated proximal to the largely expanded CTG repeat . |
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 methylation - sensitive restriction enzymes , we characterized the methylation pattern on the 5 side of the CTG repeat in the DMPK gene of normal individuals and of patients affected with myotonic dystrophy , showing expansions of the repetitive sequence .
### Output Text: | Using methylation - sensitive restriction enzymes , we characterized the methylation pattern on the 5 side of the CTG repeat in the DMPK gene of normal individuals and of patients affected with <span class="disease">myotonic dystrophy</span> , showing expansions of the repetitive 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: The gene segment analyzed corresponds to the genomic SacI - HindIII fragment carrying exons 11 - 15 .
### Output Text: | The gene segment analyzed corresponds to the genomic SacI - HindIII fragment carrying exons 11 - 15 . |
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: There is constitutive methylation in intron 12 at restriction sites of SacII and HhaI , localized 1 , 159 - 1 , 232 bp upstream of the CTG repeat , whereas most , if not all , of the other sites of SacII , HhaI , and HpaII in this region are unmethylated , in normal individuals and most of the patients .
### Output Text: | There is constitutive methylation in intron 12 at restriction sites of SacII and HhaI , localized 1 , 159 - 1 , 232 bp upstream of the CTG repeat , whereas most , if not all , of the other sites of SacII , HhaI , and HpaII in this region are unmethylated , in normal individuals and most of the 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.
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### Input Text: In a number of young and severely affected patients , however , complete methylation of these restriction sites was found in the mutated allele .
### Output Text: | In a number of young and severely affected patients , however , complete methylation of these restriction sites was found in the mutated allele . |
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: In most of these patients , the onset of the disease was congenital .
### Output Text: | In most of these patients , the onset of the disease was congenital . |
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: Preliminary in vivo footprinting data gave evidence for protein - DNA contact in normal genes at an Sp1 consensus binding site upstream of the CTG repeat and for a significant reduction of this interaction in cells with a hypermethylated DMPK gene . .
### Output Text: | Preliminary in vivo footprinting data gave evidence for protein - DNA contact in normal genes at an Sp1 consensus binding site upstream of the CTG repeat and for a significant reduction of this interaction in cells with a hypermethylated DMPK 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.
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### Input Text: The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding .
### Output Text: | The <span class="disease">hemochromatosis</span> gene product complexes with the transferrin receptor and lowers its affinity for ligand 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.
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### Input Text: We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis called HFE .
### Output Text: | We recently reported the positional cloning of a candidate gene for <span class="disease">hereditary hemochromatosis</span> called HFE . |
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 gene product , a member of the major histocompatibility complex class I - like family , was found to have a mutation , Cys - 282 - - > Tyr ( C282Y ) , in 85 % of patient chromosomes .
### Output Text: | The gene product , a member of the major histocompatibility complex class I - like family , was found to have a mutation , Cys - 282 - - > Tyr ( C282Y ) , in 85 % of patient 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.
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### Input Text: This mutation eliminates the ability of HFE to associate with beta2 - microglobulin ( beta2m ) and prevents cell - surface expression .
### Output Text: | This mutation eliminates the ability of HFE to associate with beta2 - microglobulin ( beta2m ) and prevents cell - surface expression . |
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 second mutation that has no effect on beta2m association , H63D , was found in eight out of nine patients heterozygous for the C282Y mutant .
### Output Text: | A second mutation that has no effect on beta2m association , H63D , was found in eight out of nine patients heterozygous for the C282Y mutant . |
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: In this report , we demonstrate in cultured 293 cells overexpressing wild - type or mutant HFE proteins that both the wild - type and H63D HFE proteins form stable complexes with the transferrin receptor ( TfR ) .
### Output Text: | In this report , we demonstrate in cultured 293 cells overexpressing wild - type or mutant HFE proteins that both the wild - type and H63D HFE proteins form stable complexes with the transferrin receptor ( TfR ) . |
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 C282Y mutation nearly completely prevents the association of the mutant HFE protein with the TfR .
### Output Text: | The C282Y mutation nearly completely prevents the association of the mutant HFE protein with the TfR . |
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: Studies on cell - associated transferrin at 37 degrees C suggest that the overexpressed wild - type HFE protein decreases the affinity of the TfR for transferrin .
### Output Text: | Studies on cell - associated transferrin at 37 degrees C suggest that the overexpressed wild - type HFE protein decreases the affinity of the TfR for transferrin . |
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 overexpressed H63D protein does not have this effect , providing the first direct evidence for a functional consequence of the H63D mutation .
### Output Text: | The overexpressed H63D protein does not have this effect , providing the first direct evidence for a functional consequence of the H63D mutation . |
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: Addition of soluble wild - type HFE / beta2m heterodimers to cultured cells also decreased the apparent affinity of the TfR for its ligand under steady - state conditions , both in 293 cells and in HeLa cells .
### Output Text: | Addition of soluble wild - type HFE / beta2m heterodimers to cultured cells also decreased the apparent affinity of the TfR for its ligand under steady - state conditions , both in 293 cells and in HeLa cells . |
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 , at 4 degrees C , the added soluble complex of HFE / beta2m inhibited binding of transferrin to HeLa cell TfR in a concentration - dependent manner .
### Output Text: | Furthermore , at 4 degrees C , the added soluble complex of HFE / beta2m inhibited binding of transferrin to HeLa cell TfR in a concentration - dependent manner . |
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: Scatchard plots of these data indicate that the added heterodimer substantially reduced the affinity of TfR for transferrin .
### Output Text: | Scatchard plots of these data indicate that the added heterodimer substantially reduced the affinity of TfR for transferrin . |
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 establish a molecular link between HFE and a key protein involved in iron transport , the TfR , and raise the possibility that alterations in this regulatory mechanism may play a role in the pathogenesis of hereditary hemochromatosis . .
### Output Text: | These results establish a molecular link between HFE and a key protein involved in iron transport , the TfR , and raise the possibility that alterations in this regulatory mechanism may play a role in the pathogenesis of <span class="disease">hereditary hemochromatosis</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: Genomic organization of the UBE3A / E6 - AP gene and related pseudogenes .
### Output Text: | Genomic organization of the UBE3A / E6 - AP gene and related pseudogenes . |
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 UBE3A gene encodes the E6 - AP ubiquitin - protein ligase and has recently been shown to be mutated in Angelman syndrome patients who lack 15q11 - q13 deletions or chromosome 15 paternal uniparental disomy .
### Output Text: | The UBE3A gene encodes the E6 - AP ubiquitin - protein ligase and has recently been shown to be mutated in <span class="disease">Angelman syndrome</span> patients who lack 15q11 - q13 deletions or chromosome 15 paternal <span class="disease">uniparental disomy</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: Previous UBE3A cDNA analysis has shown a coding region of approximately 2 .
### Output Text: | Previous UBE3A cDNA analysis has shown a coding region of 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: 6 kb and a 3 - untranslated region ( UTR ) of < 50 bp , whereas Northern analysis has indicated mRNA sizes of 5 - 8 kb .
### Output Text: | 6 kb and a 3 - untranslated region ( UTR ) of < 50 bp , whereas Northern analysis has indicated mRNA sizes of 5 - 8 kb . |
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: We have analyzed additional cDNA clones and provide evidence for an additional 0 .
### Output Text: | We have analyzed additional cDNA clones and provide evidence for an additional 0 . |
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: 5 kb of 5 - UTR and > 2 kb of 3 - UTR .
### Output Text: | 5 kb of 5 - UTR and > 2 kb of 3 - UTR . |
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: We have established the genomic organization of UBE3A and the sequence of intron - exon borders .
### Output Text: | We have established the genomic organization of UBE3A and the sequence of intron - exon borders . |
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: We have also mapped two highly homologous processed pseudogenes , UBE3AP1 and UBE3AP2 , to chromosomes 2 and 21 , respectively , and determined their genomic organization .
### Output Text: | We have also mapped two highly homologous processed pseudogenes , UBE3AP1 and UBE3AP2 , to chromosomes 2 and 21 , respectively , and determined their genomic organization . |
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 will form the basis for studies of mutation and imprinting of UBE3A .
### Output Text: | These results will form the basis for studies of mutation and imprinting of UBE3A . |
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: Mutation spectrum and genotype - phenotype analyses in Cowden disease and Bannayan - Zonana syndrome , two hamartoma syndromes with germline PTEN mutation .
### Output Text: | Mutation spectrum and genotype - phenotype analyses in <span class="disease">Cowden disease</span> and <span class="disease">Bannayan - Zonana syndrome</span> , two <span class="disease">hamartoma syndromes</span> with germline PTEN mutation . |
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 tumour suppressor gene PTEN , which maps to 10q23 .
### Output Text: | The <span class="disease">tumour</span> suppressor gene PTEN , which maps to 10q23 . |
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: 3 and encodes a 403 amino acid dual specificity phosphatase ( protein tyrosine phosphatase ; PTPase ) , was shown recently to play a broad role in human malignancy .
### Output Text: | 3 and encodes a 403 amino acid dual specificity phosphatase ( protein tyrosine phosphatase ; PTPase ) , was shown recently to play a broad role in human <span class="disease">malignancy</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: Somatic PTEN deletions and mutations were observed in sporadic breast , brain , prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas , malignant melanoma and thyroid tumours .
### Output Text: | Somatic PTEN deletions and mutations were observed in <span class="disease">sporadic breast , brain , prostate and kidney cancer</span> cell lines and in several primary <span class="disease">tumours</span> such as <span class="disease">endometrial carcinomas</span> , <span class="disease">malignant melanoma</span> and <span class="disease">thyroid tumours</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: In addition , PTEN was identified as the susceptibility gene for two hamartoma syndromes Cowden disease ( CD ; MIM 158350 ) and Bannayan - Zonana ( BZS ) or Ruvalcaba - Riley - Smith syndrome ( MIM 153480 ) .
### Output Text: | In addition , PTEN was identified as the susceptibility gene for two <span class="disease">hamartoma syndromes</span> <span class="disease">Cowden disease</span> ( <span class="disease">CD</span> ; MIM 158350 ) and <span class="disease">Bannayan - Zonana ( BZS ) or Ruvalcaba - Riley - Smith syndrome</span> ( MIM 153480 ) . |
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: Constitutive DNA from 37 CD families and seven BZS families was screened for germline PTEN mutations .
### Output Text: | Constitutive DNA from 37 <span class="disease">CD</span> families and seven <span class="disease">BZS</span> families was screened for germline PTEN 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.
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### Input Text: PTEN mutations were identified in 30 of 37 ( 81 % ) CD families , including missense and nonsense point mutations , deletions , insertions , a deletion / insertion and splice site mutations .
### Output Text: | PTEN mutations were identified in 30 of 37 ( 81 % ) <span class="disease">CD</span> families , including missense and nonsense point mutations , deletions , insertions , a deletion / insertion and splice site 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.
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### Input Text: These mutations were scattered over the entire length of PTEN , with the exception of the first , fourth and last exons .
### Output Text: | These mutations were scattered over the entire length of PTEN , with the exception of the first , fourth and last exons . |
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 hot spot for PTEN mutation in CD was identified in exon 5 that contains the PTPase core motif , with 13 of 30 ( 43 % ) CD mutations identified in this exon .
### Output Text: | A hot spot for PTEN mutation in <span class="disease">CD</span> was identified in exon 5 that contains the PTPase core motif , with 13 of 30 ( 43 % ) <span class="disease">CD</span> mutations identified in this exon . |
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: Seven of 30 ( 23 % ) were within the core motif , the majority ( five of seven ) of which were missense mutations , possibly pointing to the functional significance of this region .
### Output Text: | Seven of 30 ( 23 % ) were within the core motif , the majority ( five of seven ) of which were missense mutations , possibly pointing to the functional significance of this region . |
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: Germline PTEN mutations were identified in four of seven ( 57 % ) BZS families studied .
### Output Text: | Germline PTEN mutations were identified in four of seven ( 57 % ) <span class="disease">BZS</span> families studied . |
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: Interestingly , none of these mutations was observed in the PTPase core motif .
### Output Text: | Interestingly , none of these mutations was observed in the PTPase core motif . |
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: It is also worthy of note that a single nonsense point mutation , R233X , was observed in the germline DNA from two unrelated CD families and one BZS family .
### Output Text: | It is also worthy of note that a single nonsense point mutation , R233X , was observed in the germline DNA from two unrelated <span class="disease">CD</span> families and one <span class="disease">BZS</span> 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.
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### Input Text: Genotype - phenotype studies were not performed on this small group of BZS families .
### Output Text: | Genotype - phenotype studies were not performed on this small group of <span class="disease">BZS</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.
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### Input Text: However , genotype - phenotype analysis inthe group of CD families revealed two possible associations worthy of follow - up in independent analyses .
### Output Text: | However , genotype - phenotype analysis inthe group of <span class="disease">CD</span> families revealed two possible associations worthy of follow - up in independent analyses . |
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 first was an association noted in the group of CD families with breast disease .
### Output Text: | The first was an association noted in the group of <span class="disease">CD</span> families with <span class="disease">breast disease</span> . |