PubMed:16039774
Annnotations
DisGeNET5_variant_disease
{"project":"DisGeNET5_variant_disease","denotations":[{"id":"16039774-0#29#33#geners9282858","span":{"begin":29,"end":33},"obj":"geners9282858"},{"id":"16039774-0#38#42#geners523349","span":{"begin":38,"end":42},"obj":"geners523349"},{"id":"16039774-0#102#117#diseaseC0376358","span":{"begin":102,"end":117},"obj":"diseaseC0376358"},{"id":"16039774-0#102#117#diseaseC0600139","span":{"begin":102,"end":117},"obj":"diseaseC0600139"},{"id":"16039774-0#102#117#diseaseC0376358","span":{"begin":102,"end":117},"obj":"diseaseC0376358"},{"id":"16039774-0#102#117#diseaseC0600139","span":{"begin":102,"end":117},"obj":"diseaseC0600139"},{"id":"16039774-2#31#35#geners523349","span":{"begin":398,"end":402},"obj":"geners523349"},{"id":"16039774-2#40#45#geners9332964","span":{"begin":407,"end":412},"obj":"geners9332964"},{"id":"16039774-2#25#29#geners9282858","span":{"begin":392,"end":396},"obj":"geners9282858"},{"id":"16039774-2#171#198#diseaseC1704272","span":{"begin":538,"end":565},"obj":"diseaseC1704272"},{"id":"16039774-2#141#156#diseaseC0376358","span":{"begin":508,"end":523},"obj":"diseaseC0376358"},{"id":"16039774-2#141#156#diseaseC0600139","span":{"begin":508,"end":523},"obj":"diseaseC0600139"},{"id":"16039774-2#158#161#diseaseC0376358","span":{"begin":525,"end":528},"obj":"diseaseC0376358"},{"id":"16039774-2#158#161#diseaseC0600139","span":{"begin":525,"end":528},"obj":"diseaseC0600139"},{"id":"16039774-2#171#198#diseaseC1704272","span":{"begin":538,"end":565},"obj":"diseaseC1704272"}],"relations":[{"id":"29#33#geners9282858102#117#diseaseC0376358","pred":"associated_with","subj":"16039774-0#29#33#geners9282858","obj":"16039774-0#102#117#diseaseC0376358"},{"id":"29#33#geners9282858102#117#diseaseC0600139","pred":"associated_with","subj":"16039774-0#29#33#geners9282858","obj":"16039774-0#102#117#diseaseC0600139"},{"id":"29#33#geners9282858102#117#diseaseC0376358","pred":"associated_with","subj":"16039774-0#29#33#geners9282858","obj":"16039774-0#102#117#diseaseC0376358"},{"id":"29#33#geners9282858102#117#diseaseC0600139","pred":"associated_with","subj":"16039774-0#29#33#geners9282858","obj":"16039774-0#102#117#diseaseC0600139"},{"id":"38#42#geners523349102#117#diseaseC0376358","pred":"associated_with","subj":"16039774-0#38#42#geners523349","obj":"16039774-0#102#117#diseaseC0376358"},{"id":"38#42#geners523349102#117#diseaseC0600139","pred":"associated_with","subj":"16039774-0#38#42#geners523349","obj":"16039774-0#102#117#diseaseC0600139"},{"id":"38#42#geners523349102#117#diseaseC0376358","pred":"associated_with","subj":"16039774-0#38#42#geners523349","obj":"16039774-0#102#117#diseaseC0376358"},{"id":"38#42#geners523349102#117#diseaseC0600139","pred":"associated_with","subj":"16039774-0#38#42#geners523349","obj":"16039774-0#102#117#diseaseC0600139"},{"id":"31#35#geners523349171#198#diseaseC1704272","pred":"associated_with","subj":"16039774-2#31#35#geners523349","obj":"16039774-2#171#198#diseaseC1704272"},{"id":"31#35#geners523349141#156#diseaseC0376358","pred":"associated_with","subj":"16039774-2#31#35#geners523349","obj":"16039774-2#141#156#diseaseC0376358"},{"id":"31#35#geners523349141#156#diseaseC0600139","pred":"associated_with","subj":"16039774-2#31#35#geners523349","obj":"16039774-2#141#156#diseaseC0600139"},{"id":"31#35#geners523349158#161#diseaseC0376358","pred":"associated_with","subj":"16039774-2#31#35#geners523349","obj":"16039774-2#158#161#diseaseC0376358"},{"id":"31#35#geners523349158#161#diseaseC0600139","pred":"associated_with","subj":"16039774-2#31#35#geners523349","obj":"16039774-2#158#161#diseaseC0600139"},{"id":"31#35#geners523349171#198#diseaseC1704272","pred":"associated_with","subj":"16039774-2#31#35#geners523349","obj":"16039774-2#171#198#diseaseC1704272"},{"id":"40#45#geners9332964171#198#diseaseC1704272","pred":"associated_with","subj":"16039774-2#40#45#geners9332964","obj":"16039774-2#171#198#diseaseC1704272"},{"id":"40#45#geners9332964141#156#diseaseC0376358","pred":"associated_with","subj":"16039774-2#40#45#geners9332964","obj":"16039774-2#141#156#diseaseC0376358"},{"id":"40#45#geners9332964141#156#diseaseC0600139","pred":"associated_with","subj":"16039774-2#40#45#geners9332964","obj":"16039774-2#141#156#diseaseC0600139"},{"id":"40#45#geners9332964158#161#diseaseC0376358","pred":"associated_with","subj":"16039774-2#40#45#geners9332964","obj":"16039774-2#158#161#diseaseC0376358"},{"id":"40#45#geners9332964158#161#diseaseC0600139","pred":"associated_with","subj":"16039774-2#40#45#geners9332964","obj":"16039774-2#158#161#diseaseC0600139"},{"id":"40#45#geners9332964171#198#diseaseC1704272","pred":"associated_with","subj":"16039774-2#40#45#geners9332964","obj":"16039774-2#171#198#diseaseC1704272"},{"id":"25#29#geners9282858171#198#diseaseC1704272","pred":"associated_with","subj":"16039774-2#25#29#geners9282858","obj":"16039774-2#171#198#diseaseC1704272"},{"id":"25#29#geners9282858141#156#diseaseC0376358","pred":"associated_with","subj":"16039774-2#25#29#geners9282858","obj":"16039774-2#141#156#diseaseC0376358"},{"id":"25#29#geners9282858141#156#diseaseC0600139","pred":"associated_with","subj":"16039774-2#25#29#geners9282858","obj":"16039774-2#141#156#diseaseC0600139"},{"id":"25#29#geners9282858158#161#diseaseC0376358","pred":"associated_with","subj":"16039774-2#25#29#geners9282858","obj":"16039774-2#158#161#diseaseC0376358"},{"id":"25#29#geners9282858158#161#diseaseC0600139","pred":"associated_with","subj":"16039774-2#25#29#geners9282858","obj":"16039774-2#158#161#diseaseC0600139"},{"id":"25#29#geners9282858171#198#diseaseC1704272","pred":"associated_with","subj":"16039774-2#25#29#geners9282858","obj":"16039774-2#171#198#diseaseC1704272"}],"text":"The 5alpha-reductase type II A49T and V89L high-activity allelic variants are more common in men with prostate cancer compared with the general population.\nOBJECTIVES: To compare men with prostate disease with those from the general population regarding polymorphisms in the androgen receptor gene and in the 5alpha-reductase II (SRD5A2) gene.\nMATERIALS AND METHODS: The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).\nRESULTS: The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent in CaP-patients compared to general population, p=0.026 and p=0.05, respectively. CaP progression was, however, independent of SRD5A2 variants. In contrary, men with GGN\u003c23 had a higher risk of dying from the disease than their counterparts with longer repeats.\nCONCLUSIONS: Men with CaP were more often genetically predisposed to a higher enzymatic activity in the turn over from T to DHT compared to the general population. In our population, androgen receptor genotype affected CaP outcome."}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"16039774-1#107#124#gene367","span":{"begin":275,"end":292},"obj":"gene367"},{"id":"16039774-1#162#168#gene6716","span":{"begin":330,"end":336},"obj":"gene6716"},{"id":"16039774-1#20#36#diseaseC0033575","span":{"begin":188,"end":204},"obj":"diseaseC0033575"},{"id":"16039774-2#4#10#gene6716","span":{"begin":371,"end":377},"obj":"gene6716"},{"id":"16039774-2#77#80#gene199720","span":{"begin":444,"end":447},"obj":"gene199720"},{"id":"16039774-2#4#10#gene6716","span":{"begin":371,"end":377},"obj":"gene6716"},{"id":"16039774-2#51#68#gene367","span":{"begin":418,"end":435},"obj":"gene367"},{"id":"16039774-2#77#80#gene199720","span":{"begin":444,"end":447},"obj":"gene199720"},{"id":"16039774-2#141#156#diseaseC0376358","span":{"begin":508,"end":523},"obj":"diseaseC0376358"},{"id":"16039774-2#141#156#diseaseC0600139","span":{"begin":508,"end":523},"obj":"diseaseC0600139"},{"id":"16039774-2#158#161#diseaseC0376358","span":{"begin":525,"end":528},"obj":"diseaseC0376358"},{"id":"16039774-2#158#161#diseaseC0600139","span":{"begin":525,"end":528},"obj":"diseaseC0600139"},{"id":"16039774-2#141#156#diseaseC0376358","span":{"begin":508,"end":523},"obj":"diseaseC0376358"},{"id":"16039774-2#141#156#diseaseC0600139","span":{"begin":508,"end":523},"obj":"diseaseC0600139"},{"id":"16039774-2#158#161#diseaseC0376358","span":{"begin":525,"end":528},"obj":"diseaseC0376358"},{"id":"16039774-2#158#161#diseaseC0600139","span":{"begin":525,"end":528},"obj":"diseaseC0600139"},{"id":"16039774-2#171#198#diseaseC1704272","span":{"begin":538,"end":565},"obj":"diseaseC1704272"},{"id":"16039774-7#19#36#gene367","span":{"begin":1148,"end":1165},"obj":"gene367"},{"id":"16039774-7#55#58#diseaseC0376358","span":{"begin":1184,"end":1187},"obj":"diseaseC0376358"},{"id":"16039774-7#55#58#diseaseC0600139","span":{"begin":1184,"end":1187},"obj":"diseaseC0600139"}],"relations":[{"id":"107#124#gene36720#36#diseaseC0033575","pred":"associated_with","subj":"16039774-1#107#124#gene367","obj":"16039774-1#20#36#diseaseC0033575"},{"id":"162#168#gene671620#36#diseaseC0033575","pred":"associated_with","subj":"16039774-1#162#168#gene6716","obj":"16039774-1#20#36#diseaseC0033575"},{"id":"4#10#gene6716141#156#diseaseC0376358","pred":"associated_with","subj":"16039774-2#4#10#gene6716","obj":"16039774-2#141#156#diseaseC0376358"},{"id":"4#10#gene6716141#156#diseaseC0600139","pred":"associated_with","subj":"16039774-2#4#10#gene6716","obj":"16039774-2#141#156#diseaseC0600139"},{"id":"4#10#gene6716158#161#diseaseC0376358","pred":"associated_with","subj":"16039774-2#4#10#gene6716","obj":"16039774-2#158#161#diseaseC0376358"},{"id":"4#10#gene6716158#161#diseaseC0600139","pred":"associated_with","subj":"16039774-2#4#10#gene6716","obj":"16039774-2#158#161#diseaseC0600139"},{"id":"4#10#gene6716141#156#diseaseC0376358","pred":"associated_with","subj":"16039774-2#4#10#gene6716","obj":"16039774-2#141#156#diseaseC0376358"},{"id":"4#10#gene6716141#156#diseaseC0600139","pred":"associated_with","subj":"16039774-2#4#10#gene6716","obj":"16039774-2#141#156#diseaseC0600139"},{"id":"4#10#gene6716158#161#diseaseC0376358","pred":"associated_with","subj":"16039774-2#4#10#gene6716","obj":"16039774-2#158#161#diseaseC0376358"},{"id":"4#10#gene6716158#161#diseaseC0600139","pred":"associated_with","subj":"16039774-2#4#10#gene6716","obj":"16039774-2#158#161#diseaseC0600139"},{"id":"4#10#gene6716171#198#diseaseC1704272","pred":"associated_with","subj":"16039774-2#4#10#gene6716","obj":"16039774-2#171#198#diseaseC1704272"},{"id":"77#80#gene199720141#156#diseaseC0376358","pred":"associated_with","subj":"16039774-2#77#80#gene199720","obj":"16039774-2#141#156#diseaseC0376358"},{"id":"77#80#gene199720141#156#diseaseC0600139","pred":"associated_with","subj":"16039774-2#77#80#gene199720","obj":"16039774-2#141#156#diseaseC0600139"},{"id":"77#80#gene199720158#161#diseaseC0376358","pred":"associated_with","subj":"16039774-2#77#80#gene199720","obj":"16039774-2#158#161#diseaseC0376358"},{"id":"77#80#gene199720158#161#diseaseC0600139","pred":"associated_with","subj":"16039774-2#77#80#gene199720","obj":"16039774-2#158#161#diseaseC0600139"},{"id":"77#80#gene199720141#156#diseaseC0376358","pred":"associated_with","subj":"16039774-2#77#80#gene199720","obj":"16039774-2#141#156#diseaseC0376358"},{"id":"77#80#gene199720141#156#diseaseC0600139","pred":"associated_with","subj":"16039774-2#77#80#gene199720","obj":"16039774-2#141#156#diseaseC0600139"},{"id":"77#80#gene199720158#161#diseaseC0376358","pred":"associated_with","subj":"16039774-2#77#80#gene199720","obj":"16039774-2#158#161#diseaseC0376358"},{"id":"77#80#gene199720158#161#diseaseC0600139","pred":"associated_with","subj":"16039774-2#77#80#gene199720","obj":"16039774-2#158#161#diseaseC0600139"},{"id":"77#80#gene199720171#198#diseaseC1704272","pred":"associated_with","subj":"16039774-2#77#80#gene199720","obj":"16039774-2#171#198#diseaseC1704272"},{"id":"4#10#gene6716141#156#diseaseC0376358","pred":"associated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5alpha-reductase type II A49T and V89L high-activity allelic variants are more common in men with prostate cancer compared with the general population.\nOBJECTIVES: To compare men with prostate disease with those from the general population regarding polymorphisms in the androgen receptor gene and in the 5alpha-reductase II (SRD5A2) gene.\nMATERIALS AND METHODS: The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).\nRESULTS: The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent in CaP-patients compared to general population, p=0.026 and p=0.05, respectively. CaP progression was, however, independent of SRD5A2 variants. In contrary, men with GGN\u003c23 had a higher risk of dying from the disease than their counterparts with longer repeats.\nCONCLUSIONS: Men with CaP were more often genetically predisposed to a higher enzymatic activity in the turn over from T to DHT compared to the general population. In our population, androgen receptor genotype affected CaP outcome."}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":330,"end":336},"obj":"gene:6716"},{"id":"T1","span":{"begin":188,"end":204},"obj":"disease:C0033575"},{"id":"T2","span":{"begin":275,"end":292},"obj":"gene:367"},{"id":"T3","span":{"begin":188,"end":204},"obj":"disease:C0033575"},{"id":"T4","span":{"begin":1148,"end":1165},"obj":"gene:367"},{"id":"T5","span":{"begin":1184,"end":1187},"obj":"disease:C0600139"},{"id":"T6","span":{"begin":1148,"end":1165},"obj":"gene:367"},{"id":"T7","span":{"begin":1184,"end":1187},"obj":"disease:C0376358"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"The 5alpha-reductase type II A49T and V89L high-activity allelic variants are more common in men with prostate cancer compared with the general population.\nOBJECTIVES: To compare men with prostate disease with those from the general population regarding polymorphisms in the androgen receptor gene and in the 5alpha-reductase II (SRD5A2) gene.\nMATERIALS AND METHODS: The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).\nRESULTS: The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent in CaP-patients compared to general population, p=0.026 and p=0.05, respectively. CaP progression was, however, independent of SRD5A2 variants. In contrary, men with GGN\u003c23 had a higher risk of dying from the disease than their counterparts with longer repeats.\nCONCLUSIONS: Men with CaP were more often genetically predisposed to a higher enzymatic activity in the turn over from T to DHT compared to the general population. In our population, androgen receptor genotype affected CaP outcome."}