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"l 1 g0181", "g0211", "1 g0211", "l 1 g0211", "g0271", "1 g0271", "l 1 g0271", "g0374", "1 g0374", "l 1 g0374", "g0412", "1 g0412", "l 1 g0412", "va51", "1 va51", "l 1 va51", "1 trol", "l 1 trol", "zw1", "1 zw1", "l 1 zw1", "zwl", "1 zwl", "l 1 zwl", "q08830", "q08830 1", "fgl1_human", "np_004458", "fgl1", "hfrep1", "hp", "041", "hp 041", "hps", "lfire", "lfire 1", "lfire1", "p98160", "p98160 1", "pgbm_human", "np_001278789", "prcan", "sja", "sjs1", "sjs", "p0cg36", "p0cg36 1", "cfc1b_human", "np_001072998", "cfc1b", "p0cg37", "p0cg37 1", "cfc1_human", "np_001257349", "dtga2", "htx2", "o14641", "o14641 1", "dvl2_human", "np_004413", "p41440", "p41440 1", "s19a1_human", "np_001192135", "chmd", "flot1", "folt", "ifc", "ifc 1", "ifc1", "imd114", "megaf", "refc", "rft", "rft 1", "hrfc", "hslc19a1", "p42898", "p42898 1", "mthr_human", "np_001317287", "q71f56", "q71f56 1", "md13l_human", "np_056150", "mrfacd", "prosit240" ] }, { "record_id": "DOID:0060770", "record_type": "disease", "section": "proteins", "phraselist": [ "methylenetetrahydrofolate", "reductase", "nadph", "methylenetetrahydrofolate reductase", "reductase nadph", "methylenetetrahydrofolate reductase nadph", "1.5.1.53", "10", "5 10", "10 methylenetetrahydrofolate", "5 10 methylenetetrahydrofolate", "10 methylenetetrahydrofolate reductase", "5 10 methylenetetrahydrofolate reductase", "10 methylenetetrahydrofolate reductase nadph", "reduced", "folate", "transporter", "reduced folate", "folate transporter", "reduced folate transporter", "basement", "membrane", "specific", "heparan", "sulfate", "proteoglycan", "core", "protein", "isoform", "x1", "basement membrane", "membrane specific", "specific heparan", "heparan sulfate", "sulfate proteoglycan", "proteoglycan core", "core protein", "protein isoform", "isoform x1", "basement membrane specific", "membrane specific heparan", "specific heparan sulfate", "heparan sulfate proteoglycan", "sulfate proteoglycan core", "proteoglycan core protein", "core protein isoform", "protein isoform x1", "basement membrane specific heparan", "membrane specific heparan sulfate", "specific heparan sulfate proteoglycan", "heparan sulfate proteoglycan core", "sulfate proteoglycan core protein", "proteoglycan core protein isoform", "core protein isoform x1", "basement membrane specific heparan sulfate", "membrane specific heparan sulfate proteoglycan", "specific heparan sulfate proteoglycan core", "heparan sulfate proteoglycan core protein", "sulfate proteoglycan core protein isoform", "proteoglycan core protein isoform x1", "hspg", "perlecan", "precursor", "protein precursor", "core protein precursor", "proteoglycan core protein precursor", "sulfate proteoglycan core protein precursor", "cryptic", "cryptic protein", "cripto", "frl", "family", "frl 1", "cryptic family", "family 1", "cripto frl", "1 cryptic", "cryptic family 1", "cripto frl 1", "frl 1 cryptic", "1 cryptic family", "frl 1 cryptic family", "1 cryptic family 1", "cryptic protein precursor", "segment", "polarity", "dishevelled", "homolog", "dvl", "segment polarity", "polarity protein", "protein dishevelled", "dishevelled homolog", "homolog dvl", "dvl 2", "segment polarity protein", "polarity protein dishevelled", "protein dishevelled homolog", "dishevelled homolog dvl", "homolog dvl 2", "segment polarity protein dishevelled", "polarity protein dishevelled homolog", "protein dishevelled homolog dvl", "dishevelled homolog dvl 2", "segment polarity protein dishevelled homolog", "polarity protein dishevelled homolog dvl", "protein dishevelled homolog dvl 2", "dsh", "dsh homolog", "homolog 2", "dsh homolog 2", "dishevelled 2", "2 dsh", "dishevelled 2 dsh", "2 dsh homolog", "dishevelled 2 dsh homolog", "mediator", "of", "rna", "polymerase", "ii", "transcription", "subunit", "13", "like", "mediator of", "of rna", "rna polymerase", "polymerase ii", "ii transcription", "transcription subunit", "subunit 13", "13 like", "mediator of rna", "of rna polymerase", "rna polymerase ii", "polymerase ii transcription", "ii transcription subunit", "transcription subunit 13", "subunit 13 like", "mediator of rna polymerase", "of rna polymerase ii", "rna polymerase ii transcription", "polymerase ii transcription subunit", "ii transcription subunit 13", "transcription subunit 13 like", "mediator of rna polymerase ii", "of rna polymerase ii transcription", "rna polymerase ii transcription subunit", "polymerase ii transcription subunit 13", "ii transcription subunit 13 like", "complex", "mediator complex", "complex subunit", "mediator complex subunit", "complex subunit 13", "mediator complex subunit 13", "complex subunit 13 like", "mediator complex subunit 13 like", "thyroid", "hormone", "receptor", "associated", "thyroid hormone", "hormone receptor", "receptor associated", "associated protein", "protein 2", "thyroid hormone receptor", "hormone receptor associated", "receptor associated protein", "associated protein 2", "thyroid hormone receptor associated", "hormone receptor associated protein", "receptor associated protein 2", "thyroid hormone receptor associated protein", "hormone receptor associated protein 2", "240", "kda", "component", "protein complex", "complex 240", "240 kda", "kda component", "component like", "associated protein complex", "protein complex 240", "complex 240 kda", "240 kda component", "kda component like", "receptor associated protein complex", "associated protein complex 240", "protein complex 240 kda", "complex 240 kda component", "240 kda component like", "hormone receptor associated protein complex", "receptor associated protein complex 240", "associated protein complex 240 kda", "protein complex 240 kda component", "complex 240 kda component like", "like isoform", "isoform 2", "13 like isoform", "like isoform 2", "subunit 13 like isoform", "13 like isoform 2", "transcription subunit 13 like isoform", "subunit 13 like isoform 2", "isoform b", "nadph isoform", "nadph isoform b", "reductase nadph isoform", "ifc", "ifc 1", "intestinal", "carrier", "intestinal folate", "folate carrier", "carrier 1", "intestinal folate carrier", "folate carrier 1", "intestinal folate carrier 1", "plasma", "antiporter", "slc19a1", "plasma membrane", "membrane folate", "folate antiporter", "antiporter slc19a1", "plasma membrane folate", "membrane folate antiporter", "folate antiporter slc19a1", "plasma membrane folate antiporter", "membrane folate antiporter slc19a1", "plasma membrane folate antiporter slc19a1", "rfc", "rfc 1", "rfc1", "reduced folate carrier", "reduced folate carrier 1", "solute", "19", "member", "solute carrier", "carrier family", "family 19", "19 member", "member 1", "solute carrier family", "carrier family 19", "family 19 member", "19 member 1", "solute carrier family 19", "carrier family 19 member", "family 19 member 1", "solute carrier family 19 member", "carrier family 19 member 1", "transporter 1", "folate transporter 1", "carrier protein", "folate carrier protein", "intestinal folate carrier protein", "transporter isoform", "isoform a", "folate transporter isoform", "transporter isoform a", "reduced folate transporter isoform", "folate transporter isoform a", "reduced folate transporter isoform a", "sodium/hydrogen", "exchanger", "sodium/hydrogen exchanger", "19 sodium/hydrogen", "family 19 sodium/hydrogen", "19 sodium/hydrogen exchanger", "exchanger member", "carrier family 19 sodium/hydrogen", "family 19 sodium/hydrogen exchanger", "sodium/hydrogen exchanger member", "exchanger member 1", "sca1", "protein sca1", "ssn2p", "suppressor", "ssn2", "suppressor of", "polymerase b", "b ssn2", "suppressor of rna", "rna polymerase b", "polymerase b ssn2", "suppressor of rna polymerase", "of rna polymerase b", "rna polymerase b ssn2", "suppressor of rna polymerase b", "of rna polymerase b ssn2", "reductase 1", "methylenetetrahydrofolate reductase 1", "1.5.1.20", "nad", "met12", "nad p", "p h", "reductase nad", "nad p h", "h met12", "methylenetetrahydrofolate reductase nad", "reductase nad p", "p h met12", "methylenetetrahydrofolate reductase nad p", "reductase nad p h", "nad p h met12", "reductase 2", "methylenetetrahydrofolate reductase 2", "yml45", "met13", "h met13", "p h met13", "nad p h met13", "like isoform x1", "13 like isoform x1", "subunit 13 like isoform x1", "x2", "isoform x2", "nadph isoform x2", "mtx", "mtx 1", "mtx1", "methotrexate", "methotrexate carrier", "methotrexate carrier 1", "carrier 2", "methotrexate carrier 2", "carrier 5", "methotrexate carrier 5", "carrier 6", "methotrexate carrier 6", "19 folate", "family 19 folate", "19 folate transporter", "transporter member", "carrier family 19 folate", "family 19 folate transporter", "folate transporter member", "transporter member 1", "kit", "ligand", "kit ligand", "c kit", "c kit ligand", "hematopoietic", "growth", "factor", "kl", "hematopoietic growth", "growth factor", "factor kl", "hematopoietic growth factor", "growth factor kl", "hematopoietic growth factor kl", "mgf", "mast", "cell", "mast cell", "cell growth", "mast cell growth", "cell growth factor", "mast cell growth factor", "scf", "stem", "stem cell", "cell factor", "stem cell factor", "ligand isoform", "isoform 1", "1 precursor", "kit ligand isoform", "ligand isoform 1", "isoform 1 precursor", "kit ligand isoform 1", "ligand isoform 1 precursor", "kit ligand isoform 1 precursor", "steel", "factor/kit", "steel factor/kit", "factor/kit ligand", "steel factor/kit ligand", "kl 1", "cell factor kl", "factor kl 1", "stem cell factor kl", "cell factor kl 1", "stem cell factor kl 1", "cg9936", "pd", "cg9936 pd", "skuld", "subunit skuld", "complex subunit skuld", "mediator complex subunit skuld", "blind", "spot", "protein blind", "blind spot", "protein blind spot", "poils", "aux", "pattes", "protein poils", "poils aux", "aux pattes", "protein poils aux", "poils aux pattes", "protein poils aux pattes", "dtrap240", "flytrap", "skd", "skd pd", "isoform d", "skuld isoform", "skuld isoform d", "constitutively", "activated", "dpp", "signaling", "78", "of constitutively", "constitutively activated", "activated dpp", "dpp signaling", "signaling 78", "suppressor of constitutively", "of constitutively activated", "constitutively activated dpp", "activated dpp signaling", "dpp signaling 78", "suppressor of constitutively activated", "of constitutively activated dpp", "constitutively activated dpp signaling", "activated dpp signaling 78", "suppressor of constitutively activated dpp", "of constitutively activated dpp signaling", "constitutively activated dpp signaling 78", "catalytic", "domain", "containing", "reductase like", "like catalytic", "catalytic domain", "domain containing", "containing protein", "methylenetetrahydrofolate reductase like", "reductase like catalytic", "like catalytic domain", "catalytic domain containing", "domain containing protein", "methylenetetrahydrofolate reductase like catalytic", "reductase like catalytic domain", "like catalytic domain containing", "catalytic domain containing protein", "methylenetetrahydrofolate reductase like catalytic domain", "reductase like catalytic domain containing", "like catalytic domain containing protein", "cg7560", "pa", "cg7560 pa", "uncharacterized", "uncharacterized protein", "thiamine", "thiamine transporter", "thiamine transporter 1", "cg14694", "cg14694 pa", "cg6574", "cg6574 pa", "cg17036", "pb", "cg17036 pb", "uncharacterized protein isoform", "protein isoform b", "uncharacterized protein isoform b", "cg18361", "cg18361 pa", "disheveled", "disshevelled", "dsh pa", "cg33950", "pbd", "cg33950 pbd", "terribly", "optic", "lobes", "bd", "terribly reduced", "reduced optic", "optic lobes", "isoform bd", "terribly reduced optic", "reduced optic lobes", "lobes isoform", "terribly reduced optic lobes", "optic lobes isoform", "lobes isoform bd", "reduced optic lobes isoform", "optic lobes isoform bd", "trol/perlecan", "dperlecan", "lethal", "g0019", "lethal 1", "1 g0019", "lethal 1 g0019", "g0021", "1 g0021", "lethal 1 g0021", "g0023", "1 g0023", "lethal 1 g0023", "g0181", "1 g0181", "lethal 1 g0181", "g0211", "1 g0211", "lethal 1 g0211", "g0271", "1 g0271", "lethal 1 g0271", "g0374", "1 g0374", "lethal 1 g0374", "g0412", "1 g0412", "lethal 1 g0412", "mrna", "ncrna", "in", "embryogenesis", "mrna like", "like ncrna", "ncrna in", "in embryogenesis", "embryogenesis 7", "mrna like ncrna", "like ncrna in", "ncrna in embryogenesis", "in embryogenesis 7", "mrna like ncrna in", "like ncrna in embryogenesis", "ncrna in embryogenesis 7", "mrna like ncrna in embryogenesis", "like ncrna in embryogenesis 7", "trol", "trol pbd", "fibrinogen", "fibrinogen like", "like protein", "protein 1", "fibrinogen like protein", "like protein 1", "fibrinogen like protein 1", "hfrep", "hfrep 1", "hp", "041", "hp 041", "hps", "hepassocin", "hepatocyte", "derived", "related", "hepatocyte derived", "derived fibrinogen", "fibrinogen related", "related protein", "hepatocyte derived fibrinogen", "derived fibrinogen related", "fibrinogen related protein", "related protein 1", "hepatocyte derived fibrinogen related", "derived fibrinogen related protein", "fibrinogen related protein 1", "hepatocyte derived fibrinogen related protein", "derived fibrinogen related protein 1", "lfire", "lfire 1", "liver", "liver fibrinogen", "liver fibrinogen related", "liver fibrinogen related protein", "liver fibrinogen related protein 1", "protein 1 precursor", "like protein 1 precursor", "fibrinogen like protein 1 precursor", "hepatocellular", "carcinoma", "sequence", "hepatocellular carcinoma", "carcinoma related", "related sequence", "hepatocellular carcinoma related", "carcinoma related sequence", "hepatocellular carcinoma related sequence", "plc", "a precursor", "protein isoform a", "isoform a precursor", "core protein isoform a", "protein isoform a precursor", "proteoglycan core protein isoform a", "core protein isoform a precursor", "endorepellin", "region", "domain v", "v region", "endorepellin domain", "domain v region", "endorepellin domain v", "endorepellin domain v region", "perlecan proteoglycan", "1b", "family protein", "protein 1b", "cryptic family protein", "family protein 1b", "cryptic family protein 1b", "family 1b", "cryptic family 1b", "1 cryptic family 1b", "1b precursor", "protein 1b precursor", "family protein 1b precursor", "cryptic family protein 1b precursor", "family protein 1", "cryptic family protein 1", "2 precursor", "cryptic protein isoform", "protein isoform 2", "isoform 2 precursor", "cryptic protein isoform 2", "protein isoform 2 precursor", "cryptic protein isoform 2 precursor", "heterotaxy", "autosomal", "dominant", "heterotaxy 2", "autosomal dominant", "2 autosomal", "heterotaxy 2 autosomal", "2 autosomal dominant", "heterotaxy 2 autosomal dominant", "homologous", "to", "drosophila", "homologous to", "to drosophila", "drosophila dsh", "2 homologous", "homologous to drosophila", "to drosophila dsh", "dishevelled 2 homologous", "2 homologous to", "homologous to drosophila dsh", "dishevelled 2 homologous to", "2 homologous to drosophila", "dishevelled dsh", "dishevelled dsh homolog", "dishevelled dsh homolog 2", "cyclic", "dinucleotide:anion", "cyclic dinucleotide:anion", "dinucleotide:anion antiporter", "cyclic dinucleotide:anion antiporter", "dinucleotide:anion antiporter slc19a1", "cyclic dinucleotide:anion antiporter slc19a1", "folt", "folate:anion", "folate:anion antiporter", "folate:anion antiporter slc19a1", "placental", "placental folate", "placental folate transporter", "rft", "rft 1", "reduced folate carrier protein", "reduced folate transporter 1", "hrfc", "hslc19a1", "transporter isoform 2", "folate transporter isoform 2", "reduced folate transporter isoform 2", "nadph isoform 1", "like isoform 1", "13 like isoform 1", "subunit 13 like isoform 1" ] }, { "record_id": "DOID:0060772", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0060772", "0060772", "mondo:0013463", "0013463", "mim:613854", "613854" ] }, { "record_id": "DOID:0060772", "record_type": "disease", "section": "disease_name", "phraselist": [ "multiple", "types", "of", "congenital", "heart", "defects", "multiple types", "types of", "of congenital", "congenital heart", "heart defects", "defects 6", "multiple types of", "types of congenital", "of congenital heart", "congenital heart defects", "heart defects 6", "multiple types of congenital", "types of congenital heart", "of congenital heart defects", "congenital heart defects 6", "multiple types of congenital heart", "types of congenital heart defects", "of congenital heart defects 6", "dtga3", "dextro", "looped", "transposition", "the", "great", "arteries", "dextro looped", "looped transposition", "transposition of", "of the", "the great", "great arteries", "arteries 3", "dextro looped transposition", "looped transposition of", "transposition of the", "of the great", "the great arteries", "great arteries 3", "dextro looped transposition of", "looped transposition of the", "transposition of the great", "of the great arteries", "the great arteries 3", "dextro looped transposition of the", "looped transposition of the great", "transposition of the great arteries", "of the great arteries 3", "defects multiple", "types 6", "heart defects multiple", "defects multiple types", "multiple types 6", "congenital heart defects multiple", "heart defects multiple types", "gdf1", "gdf1 dextro", "gdf1 dextro looped", "gdf1 dextro looped transposition", "gdf1 dextro looped transposition of", "caused", "by", "mutation", "in", "arteries caused", "caused by", "by mutation", "mutation in", "in gdf1", "great arteries caused", "arteries caused by", "caused by mutation", "by mutation in", "mutation in gdf1", "the great arteries caused", "great arteries caused by", "arteries caused by mutation", "caused by mutation in", "by mutation in gdf1", "of the great arteries caused", "the great arteries caused by", "great arteries caused by mutation", "arteries caused by mutation in", "caused by mutation in gdf1", "type", "arteries type", "type 3", "great arteries type", "arteries type 3", "the great arteries type", "great arteries type 3", "of the great arteries type", "the great arteries type 3", "looped type", "arteries dextro", "dextro looped type", "looped type 3", "great arteries dextro", "arteries dextro looped", "dextro looped type 3", "the great arteries dextro", "great arteries dextro looped", "arteries dextro looped type", "chtd6", "looped 3", "dextro looped 3", "arteries dextro looped 3" ] }, { "record_id": "DOID:0060772", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "DOID:0060772", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0060772", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0060772", "record_type": "disease", "section": "proteins", "phraselist": [ "p35621", "p35621 1", "dvr1_danre", "np_571023", "glycoprotein", "dvr1", "gdf3", "dvr", "dvr 1", "vg1", "cb556", "zdvr", "zdvr 1", "zdvr1", "zgc:103542", "p20863", "p20863 1", "gdf1_mouse", "np_001156754", "gdf1", "gdf", "gdf 1", "p27539", "p27539 1", "gdf1_human", "np_001483", "chtd6", "dorv", "dtga3", "rai" ] }, { "record_id": "DOID:0060772", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "dvr", "protein dvr", "dvr 1", "protein dvr 1", "decapentaplegic", "and", "vg", "related", "decapentaplegic and", "and vg", "vg related", "related 1", "decapentaplegic and vg", "and vg related", "vg related 1", "decapentaplegic and vg related", "and vg related 1", "decapentaplegic and vg related 1", "precursor", "1 precursor", "dvr 1 precursor", "protein dvr 1 precursor", "embryonic", "growth/differentiation", "factor", "embryonic growth/differentiation", "growth/differentiation factor", "factor 1", "embryonic growth/differentiation factor", "growth/differentiation factor 1", "embryonic growth/differentiation factor 1", "gdf", "gdf 1", "factor 1 precursor", "growth/differentiation factor 1 precursor", "embryonic growth/differentiation factor 1 precursor" ] }, { "record_id": "DOID:0060773", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0060773", "0060773", "mondo:0009151", "0009151", "mim:225060", "225060" ] }, { "record_id": "DOID:0060773", "record_type": "disease", "section": "disease_name", "phraselist": [ "cleft", "lip", "palate", "ectodermal", "dysplasia", "syndrome", "cleft lip", "lip palate", "palate ectodermal", "ectodermal dysplasia", "dysplasia syndrome", "cleft lip palate", "lip palate ectodermal", "palate ectodermal dysplasia", "ectodermal dysplasia syndrome", "cleft lip palate ectodermal", "lip palate ectodermal dysplasia", "palate ectodermal dysplasia syndrome", "cleft lip palate ectodermal dysplasia", "lip palate ectodermal dysplasia syndrome", "clped1", "margarita", "type", "of", "margarita type", "type of", "of ectodermal", "margarita type of", "type of ectodermal", "of ectodermal dysplasia", "margarita type of ectodermal", "type of ectodermal dysplasia", "margarita type of ectodermal dysplasia", "zlotogora", "zilberman", "tenenbaum", "zlotogora zilberman", "zilberman tenenbaum", "tenenbaum syndrome", "zlotogora zilberman tenenbaum", "zilberman tenenbaum syndrome", "zlotogora zilberman tenenbaum syndrome", "lip/palate", "syndactyly", "pili", "torti", "cleft lip/palate", "lip/palate syndactyly", "syndactyly pili", "pili torti", "torti syndrome", "cleft lip/palate syndactyly", "lip/palate syndactyly pili", "syndactyly pili torti", "pili torti syndrome", "cleft lip/palate syndactyly pili", "lip/palate syndactyly pili torti", "syndactyly pili torti syndrome", "cleft lip/palate syndactyly pili torti", "lip/palate syndactyly pili torti syndrome", "cleft/lip", "syndactyly ectodermal", "dysplasia cleft/lip", "cleft/lip palate", "syndactyly ectodermal dysplasia", "ectodermal dysplasia cleft/lip", "dysplasia cleft/lip palate", "syndactyly ectodermal dysplasia cleft/lip", "ectodermal dysplasia cleft/lip palate", "syndactyly ectodermal dysplasia cleft/lip palate", "lip/palate ectodermal", "cleft lip/palate ectodermal", "lip/palate ectodermal dysplasia", "cleft lip/palate ectodermal dysplasia", "lip/palate ectodermal dysplasia syndrome", "cleft lip/palate ectodermal dysplasia syndrome", "ogur", "zlotogora ogur", "ogur syndrome", "zlotogora ogur syndrome", "bustos", "simosa", "pinto", "cisternas", "bustos simosa", "simosa pinto", "pinto cisternas", "cisternas syndrome", "bustos simosa pinto", "simosa pinto cisternas", "pinto cisternas syndrome", "bustos simosa pinto cisternas", "simosa pinto cisternas syndrome", "bustos simosa pinto cisternas syndrome", "clepd", 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isoform a", "coa ligase 5 isoform", "ligase 5 isoform a", "coa ligase 5 isoform a" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0060775", "0060775", "mondo:0009635", "0009635", "mim:251850", "251850" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "disease_name", "phraselist": [ "microvillus", "inclusion", "disease", "microvillus inclusion", "inclusion disease", "microvillus inclusion disease", "congenital", "familial", "protracted", "diarrhea", "with", "enterocyte", "brush", "border", "abnormalities", "congenital familial", "familial protracted", "protracted diarrhea", "diarrhea with", "with enterocyte", "enterocyte brush", "brush border", "border abnormalities", "congenital familial protracted", "familial protracted diarrhea", "protracted diarrhea with", "diarrhea with enterocyte", "with enterocyte brush", "enterocyte brush border", "brush border abnormalities", "congenital familial protracted 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"with microvillus atrophy with", "microvillus atrophy with or", "atrophy with or without" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "559292", "saccharomyces", "cerevisiae", "s288c", "saccharomyces cerevisiae", "cerevisiae s288c", "saccharomyces cerevisiae s288c", "yeast", "baker's", "baker's yeast", "s288c 559292", "cerevisiae s288c 559292", "saccharomyces cerevisiae s288c 559292" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "559292", "saccharomyces", "cerevisiae", "s288c", "saccharomyces cerevisiae", "cerevisiae s288c", "saccharomyces cerevisiae s288c", "yeast", "baker's", "baker's yeast", "s288c 559292", "cerevisiae s288c 559292", "saccharomyces cerevisiae s288c 559292" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "559292", "saccharomyces", "cerevisiae", "s288c", "saccharomyces cerevisiae", "cerevisiae s288c", "saccharomyces cerevisiae s288c", "yeast", "baker's", "baker's yeast", "s288c 559292", "cerevisiae s288c 559292", "saccharomyces cerevisiae s288c 559292" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0060775", "record_type": "disease", "section": "proteins", "phraselist": [ "a0a8m9p3e4", "a0a8m9p3e4 1", "a0a8m9p3e4_danre", "xp_021324562", "myo5b", "cb1077", "si:ch73", "112l6.5", "si:ch73 112l6.5", "p21271", "p21271 1", "myo5b_mouse", "kiaa1119", "p60766", "p60766 2", "cdc42_mouse", "np_001230698", "glycoprotein", "cdc42", "q9ulv0", "q9ulv0 1", "myo5b_human", "np_001073936", "diar2", "mvid1", "pfic10", "p32492", "p32492 1", "myo4_yeast", "np_009373", "myo4", "fun22", "she1", "p19524", "p19524 1", "myo2_yeast", "np_014971", "myo2", "cdc66", "o6167", "p19073", "p19073 1", "cdc42_yeast", "np_013330", "l8083.13", "sro2", "p70569", "p70569 1", "myo5b_rat", "np_058779", "myr6", "q8cfn2", "q8cfn2 1", "cdc42_rat", "np_741991", "a1z6z8", "a1z6z8 1", "a1z6z8_drome", "np_724569", "didum", "43cd", "cg2146", "dmv", "dmel\\cg2146", "dmel_cg2146", "m5", "myov", "myo1c", "myo5", "myov43cd", "nest:bs14c05", "nmc7", "dmm5", "soy", "p40793", "p40793 1", 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"protein 2", "suppressor of rho3", "of rho3 protein", "rho3 protein 2", "suppressor of rho3 protein", "of rho3 protein 2", "suppressor of rho3 protein 2", "myr", "chain myr", "myr 6", "heavy chain myr", "chain myr 6", "myosin heavy chain myr", "heavy chain myr 6", "myosin heavy chain myr 6", "the", "dilute", "myosin of", "of the", "the dilute", "dilute myosin", "v family", "myosin of the", "of the dilute", "the dilute myosin", "dilute myosin v", "myosin v family", "myosin of the dilute", "of the dilute myosin", "the dilute myosin v", "dilute myosin v family", "myosin of the dilute myosin", "of the dilute myosin v", "the dilute myosin v family", "5b", "myosin 5b", "42 gtp", "cycle 42 gtp", "42 gtp binding", "division cycle 42 gtp", "cycle 42 gtp binding", "42 gtp binding protein", "5.6.1.8", "cg2146", "pc", "cg2146 pc", "dilute class", "class unconventional", "isoform c", "dilute class unconventional", "class unconventional myosin", "myosin isoform", "dilute class unconventional 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"polymerase subunit beta", "rna polymerase subunit beta", "directed rna polymerase subunit beta", "iii", "rpc2", "polymerase iii", "iii subunit", "subunit rpc2", "rna polymerase iii", "polymerase iii subunit", "iii subunit rpc2", "directed rna polymerase iii", "rna polymerase iii subunit", "polymerase iii subunit rpc2", "dna directed rna polymerase iii", "directed rna polymerase iii subunit", "rna polymerase iii subunit rpc2", "rpc1", "isoform", "x1", "subunit rpc1", "rpc1 isoform", "isoform x1", "iii subunit rpc1", "subunit rpc1 isoform", "rpc1 isoform x1", "polymerase iii subunit rpc1", "iii subunit rpc1 isoform", "subunit rpc1 isoform x1", "rna polymerase iii subunit rpc1", "polymerase iii subunit rpc1 isoform", "iii subunit rpc1 isoform x1", "largest", "i largest", "largest subunit", "polymerase i largest", "i largest subunit", "rna polymerase i largest", "polymerase i largest subunit", "directed rna polymerase i largest", "rna polymerase i largest subunit", "subunit a", "i subunit a", "polymerase i subunit a", "rna polymerase i subunit a", "194", "kda", "polymerase 1", "1 4", "194 kda", "kda subunit", "rna polymerase 1", "polymerase 1 4", "4 194", "194 kda subunit", "rna polymerase 1 4", "1 4 194", "4 194 kda", "polymerase 1 4 194", "1 4 194 kda", "4 194 kda subunit", "i 194", "polymerase i 194", "i 194 kda", "rna polymerase i 194", "polymerase i 194 kda", "i 194 kda subunit", "rna polymerase i 194 kda", "polymerase i 194 kda subunit", "a1", "subunit a1", "i subunit a1", "polymerase i subunit a1", "rna polymerase i subunit a1", "rpa194", "c128", "127.6", "polypeptide", "iii 127.6", "127.6 kda", "kda polypeptide", "polymerase iii 127.6", "iii 127.6 kda", "127.6 kda polypeptide", "rna polymerase iii 127.6", "polymerase iii 127.6 kda", "iii 127.6 kda polypeptide", "directed rna polymerase iii 127.6", "rna polymerase iii 127.6 kda", "polymerase iii 127.6 kda polypeptide", "subunit b", "iii subunit b", "polymerase iii subunit b", "rna polymerase iii subunit b", "c2", "subunit c2", "iii subunit c2", "polymerase iii subunit c2", "rna polymerase iii subunit c2", "homolog", "rpc2 homolog", "subunit rpc2 homolog", "iii subunit rpc2 homolog", "polymerase iii subunit rpc2 homolog", "rpc10", "subunit rpc10", "iii subunit rpc10", "polymerase iii subunit rpc10", "rna polymerase iii subunit rpc10", "subunit k", "iii subunit k", "polymerase iii subunit k", "rna polymerase iii subunit k", "c10", "subunit c10", "iii subunit c10", "polymerase iii subunit c10", "rna polymerase iii subunit c10", "c11", "subunit c11", "iii subunit c11", "polymerase iii subunit c11", "rna polymerase iii subunit c11", "rpc11", "sphingolipid", "delta", "desaturase", "des1", "sphingolipid delta", "delta 4", "desaturase des1", "sphingolipid delta 4", "4 desaturase", "delta 4 desaturase", "4 desaturase des1", "sphingolipid delta 4 desaturase", "delta 4 desaturase des1", "1.14.19.17", "5.2.1.", "degenerative", "spermatocyte", "degenerative spermatocyte", "spermatocyte homolog", "homolog 1", "degenerative spermatocyte homolog", "spermatocyte homolog 1", "degenerative spermatocyte homolog 1", "dihydroceramide", "dihydroceramide desaturase", "desaturase 1", "dihydroceramide desaturase 1", "retinol", "isomerase", "retinol isomerase", "des1 isoform", "isoform 1", "desaturase des1 isoform", "des1 isoform 1", "desaturase des1 isoform 1", "4 desaturase des1 isoform", "myelin", "proteolipid", "protein", "myelin proteolipid", "proteolipid protein", "myelin proteolipid protein", "lipophilin", "plp", "major", "major myelin", "major myelin proteolipid", "major myelin proteolipid protein", "protein isoform", "proteolipid protein isoform", "protein isoform 1", "myelin proteolipid protein isoform", "proteolipid protein isoform 1", "myelin proteolipid protein isoform 1", "130", "iii 130", "130 kda", "polymerase iii 130", "iii 130 kda", "130 kda polypeptide", "rna polymerase iii 130", "polymerase iii 130 kda", "iii 130 kda polypeptide", "directed rna polymerase iii 130", "rna polymerase iii 130 kda", "polymerase iii 130 kda polypeptide", "core", "ret1", "iii core", "core subunit", "subunit ret1", "polymerase iii core", "iii core subunit", "core subunit ret1", "rna polymerase iii core", "polymerase iii core subunit", "iii core subunit ret1", "directed rna polymerase iii core", "rna polymerase iii core subunit", "polymerase iii core subunit ret1", "rpo31", "subunit rpo31", "core subunit rpo31", "iii core subunit rpo31", "polymerase iii core subunit rpo31", "iii largest", "polymerase iii largest", "iii largest subunit", "rna polymerase iii largest", "polymerase iii largest subunit", "directed rna polymerase iii largest", "rna polymerase iii largest subunit", "c160", "subunit c160", "iii subunit c160", "polymerase iii subunit c160", "rna polymerase iii subunit c160", "c1", "subunit c1", "iii subunit c1", "polymerase iii subunit c1", "rna polymerase iii subunit c1", "polymerases", "and", "rpac1", "rna polymerases", "polymerases i", "i and", "and iii", "subunit 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polypeptide", "ac1", "subunit ac1", "iii subunit ac1", "and iii subunit ac1", "i and iii subunit ac1", "subunit rpc11", "core subunit rpc11", "iii core subunit rpc11", "polymerase iii core subunit rpc11", "12.5", "polymerases iii", "iii 12.5", "12.5 kda", "rna polymerases iii", "polymerases iii 12.5", "iii 12.5 kda", "12.5 kda polypeptide", "directed rna polymerases iii", "rna polymerases iii 12.5", "polymerases iii 12.5 kda", "iii 12.5 kda polypeptide", "dna directed rna polymerases iii", "directed rna polymerases iii 12.5", "rna polymerases iii 12.5 kda", "polymerases iii 12.5 kda polypeptide", "rpa190", "subunit rpa190", "i subunit rpa190", "polymerase i subunit rpa190", "rna polymerase i subunit rpa190", "a190", "190", "i 190", "190 kda", "polymerase i 190", "i 190 kda", "190 kda polypeptide", "rna polymerase i 190", "polymerase i 190 kda", "i 190 kda polypeptide", "directed rna polymerase i 190", "rna polymerase i 190 kda", "polymerase i 190 kda polypeptide", "i core", "polymerase i core", "i core subunit", "core subunit rpa190", "rna polymerase i core", "polymerase i core subunit", "i core subunit rpa190", "directed rna polymerase i core", "rna polymerase i core subunit", "polymerase i core subunit rpa190", "a194", "i a", "polymerase i a", "rna polymerase i a", "directed rna polymerase i a", "i polypeptide", "polypeptide a", "polymerase rna", "rna i", "i polypeptide a", "rna i polypeptide", "polymerase rna i", "rna i polypeptide a", "rna i subunit", "rna i subunit a", "polypeptide b", "rna iii", "iii dna", "directed polypeptide", "iii dna directed", "dna directed polypeptide", "directed polypeptide b", "polymerase rna iii", "rna iii dna", "dna directed polypeptide b", "rna iii subunit", "rna iii subunit b", "155kda", "a 155kda", "directed polypeptide a", "polypeptide a 155kda", "dna directed polypeptide a", "iii subunit a", "rna iii subunit a", "uncharacterized", "loc289322", "uncharacterized protein", "protein loc289322", "uncharacterized protein loc289322", "like", "rdes", "spermatocyte like", "like protein", "protein rdes", "degenerative spermatocyte like", "spermatocyte like protein", "like protein rdes", "degenerative spermatocyte like protein", "spermatocyte like protein rdes", "degenerative spermatocyte like protein rdes", "lipid", "lipid desaturase", "1 lipid", "homolog 1 lipid", "1 lipid desaturase", "spermatocyte homolog 1 lipid", "homolog 1 lipid desaturase", "sphingolipid 1", "1 like", "like 1", "desaturase sphingolipid", "sphingolipid 1 like", "1 like 1", "desaturase sphingolipid 1", "sphingolipid 1 like 1", "4 desaturase sphingolipid", "desaturase sphingolipid 1 like", "cg10122", "pa", "cg10122 pa", "polr1a", "polr1a pa", "cg17209", "pc", "cg17209 pc", "polr3a", "polr3a pc", "polymerase iii subunit a", "rna polymerase iii subunit a", "cg33785", "cg33785 pa", "polr3k", "polr3k pa", "cg8344", "cg8344 pa", "128", "iii 128", "128 kda", "polymerase iii 128", "iii 128 kda", "128 kda polypeptide", "rna polymerase iii 128", "polymerase iii 128 kda", "iii 128 kda polypeptide", "directed rna polymerase iii 128", "rna polymerase iii 128 kda", "polymerase iii 128 kda polypeptide", "polr3b", "polr3b pa", "128kd", "iii 128kd", "128kd subunit", "polymerase iii 128kd", "iii 128kd subunit", "rna polymerase iii 128kd", "polymerase iii 128kd subunit", "rna polymerase iii 128kd subunit", "iiib", "polymerase iiib", "rna polymerase iiib", "cg9078", "cg9078 pa", "des", "des 1", "degenerating", "degenerating spermatocyte", "ifc", "ifc pa", "infertile", "crescent", "infertile crescent", "isoform a", "crescent isoform", "infertile crescent isoform", "crescent isoform a", "infertile crescent isoform a", "sphingosine", "sphingosine delta", "sphingosine delta 4", "sphingosine delta 4 desaturase", "rpc2 isoform", "isoform 2", "subunit rpc2 isoform", "rpc2 isoform 2", "iii subunit rpc2 isoform", "subunit rpc2 isoform 2", "polymerase iii subunit rpc2 isoform", "iii subunit rpc2 isoform 2", "interphase", "nucleus", "mitotic", "apparatus", "associated", "interphase nucleus", "nucleus and", "and mitotic", "mitotic apparatus", "apparatus associated", "associated protein", "interphase nucleus and", "nucleus and mitotic", "and mitotic apparatus", "mitotic apparatus associated", "apparatus associated protein", "interphase nucleus and mitotic", "nucleus and mitotic apparatus", "and mitotic apparatus associated", "mitotic apparatus associated protein", "interphase nucleus and mitotic apparatus", "nucleus and mitotic apparatus associated", "and mitotic apparatus associated protein", "hsc11p", "polymerase iii 12.5", "12.5 kda subunit", "rna polymerase iii 12.5", "polymerase iii 12.5 kda", "iii 12.5 kda subunit", "rna polymerase iii 12.5 kda", "polymerase iii 12.5 kda subunit", "cii", "subunit cii", "iii subunit cii", "polymerase iii subunit cii", "rna polymerase iii subunit cii", "rpc12.5", "hrpc11", "12.3", "polypeptide k", "12.3 kda", "k 12.3", "directed polypeptide k", "polypeptide k 12.3", "k 12.3 kda", "dna directed polypeptide k", "polypeptide k 12.3 kda", "rna iii subunit k", "155", "iii 155", "155 kda", "polymerase iii 155", "iii 155 kda", "155 kda subunit", "rna polymerase iii 155", "polymerase iii 155 kda", "iii 155 kda subunit", "rna polymerase iii 155 kda", "polymerase iii 155 kda subunit", "rpc155", "subunit rpc155", "rpc155 d", "iii subunit rpc155", "subunit rpc155 d", "polymerase iii subunit rpc155", "iii subunit rpc155 d", "rna polymerase iii subunit rpc155", "polymerase iii subunit rpc155 d", "cell", "migration", "inducing", "gene", "15", "cell migration", "migration inducing", "inducing gene", "gene 15", "15 protein", "cell migration inducing", "migration inducing gene", "inducing gene 15", "gene 15 protein", "cell migration inducing gene", "migration inducing gene 15", "inducing gene 15 protein", "cell migration inducing gene 15", "migration inducing gene 15 protein", "membrane", "membrane lipid", "membrane lipid desaturase", "homolog lipid", "spermatocyte homolog lipid", "homolog lipid desaturase", "degenerative spermatocyte homolog lipid", "spermatocyte homolog lipid desaturase", "fatty", "acid", "membrane fatty", "fatty acid", "membrane fatty acid", "acid lipid", "fatty acid lipid", "membrane fatty acid lipid", "acid lipid desaturase", "4 desaturase 1", "delta 4 desaturase 1", "194kda", "a 194kda", "polypeptide a 194kda", "i polypeptide a 194kda" ] }, { "record_id": "DOID:0060787", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0060787", "0060787", "mondo:0012125", "0012125", "mim:608804", "608804" ] }, { "record_id": "DOID:0060787", "record_type": "disease", "section": "disease_name", "phraselist": [ "hypomyelinating", "leukodystrophy", "hypomyelinating leukodystrophy", "leukodystrophy 2", "hypomyelinating leukodystrophy 2", "pelizaeus", "merzbacher", "like", "disease", "due", "to", "gjc2", "mutation", "pelizaeus merzbacher", "merzbacher like", "like disease", "disease due", "due to", "to gjc2", "gjc2 mutation", "pelizaeus merzbacher like", "merzbacher like disease", "like disease due", "disease due to", "due to gjc2", "to gjc2 mutation", "pelizaeus merzbacher like disease", "merzbacher like disease due", "like disease due to", "disease due to gjc2", "due to gjc2 mutation", "pelizaeus merzbacher like disease due", "merzbacher like disease due to", "like disease due to gjc2", "disease due to gjc2 mutation", "hld2", "pmld1", "disease 1", "like disease 1", "merzbacher like disease 1", "pelizaeus merzbacher like disease 1", "gjc2 leukodystrophy", "type", "leukodystrophy type", "type 2", "hypomyelinating leukodystrophy type", "leukodystrophy type 2", "hypomyelinating leukodystrophy type 2", "caused", "by", "in", "leukodystrophy caused", "caused by", "by mutation", "mutation in", "in gjc2", "leukodystrophy caused by", "caused by mutation", "by mutation in", "mutation in gjc2", "leukodystrophy caused by mutation", "caused by mutation in", "by mutation in gjc2", "leukodystrophy caused by mutation in", "caused by mutation in gjc2", "leukodystrophy hypomyelinating", "hypomyelinating type", "hypomyelinating type 2", "leukodystrophy hypomyelinating type", "hypomyelinating 2", "leukodystrophy hypomyelinating 2" ] }, { "record_id": "DOID:0060787", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0060787", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0060787", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0060787", "record_type": "disease", "section": "proteins", "phraselist": [ "q8bqu6", "q8bqu6 1", "cxg2_mouse", "np_536702", "glycoprotein", "gjc2", "b230382l12rik", "cx47", "cxno", "gja12", "q5t442", "q5t442 1", "cxg2_human", "np_065168", "cx46.6", "hld2", "lmph1c", "lmphm3", "pmldar", "spg44", "q80xf7", "q80xf7 1", "cxg2_rat", "np_001094254" ] }, { "record_id": "DOID:0060787", "record_type": "disease", "section": "proteins", "phraselist": [ "gap", "junction", "gamma", "protein", "gap junction", "junction gamma", "gamma 2", "2 protein", "gap junction gamma", "junction gamma 2", "gamma 2 protein", "gap junction gamma 2", "junction gamma 2 protein", "gap junction gamma 2 protein", "connexin", "47", "connexin 47", "cx47", "alpha", "12", "junction alpha", "alpha 12", "12 protein", "gap junction alpha", "junction alpha 12", "alpha 12 protein", "gap junction alpha 12", "junction alpha 12 protein", "gap junction alpha 12 protein", "type", "47 type", "type a", "connexin 47 type", "47 type a", "connexin 47 type a", "type c", "47 type c", "connexin 47 type c", "type d", "47 type d", "connexin 47 type d", "connexin o", "membrane", "channel", "junction membrane", "membrane channel", "channel protein", "protein alpha", "gap junction membrane", "junction membrane channel", "membrane channel protein", "channel protein alpha", "protein alpha 12", "gap junction membrane channel", "junction membrane channel protein", "membrane channel protein alpha", "channel protein alpha 12", "gap junction membrane channel protein", "junction membrane channel protein alpha", "membrane channel protein alpha 12", "chi", "junction protein", "chi 2", "gap junction protein", "protein chi", "junction protein chi", "protein chi 2", "gap junction protein chi", "junction protein chi 2", "46.6", "connexin 46.6", "cx46.6", "47kda", "protein gamma", "2 47kda", "junction protein gamma", "protein gamma 2", "gamma 2 47kda", "gap junction protein gamma", "junction protein gamma 2", "junction protein alpha", "gap junction protein alpha", "junction protein alpha 12" ] }, { "record_id": "DOID:0060788", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0060788", "0060788", "mondo:0014632", "0014632", "mim:616420", "616420" ] }, { "record_id": "DOID:0060788", "record_type": "disease", "section": "disease_name", "phraselist": [ "hypomyelinating", "leukodystrophy", "10", "hypomyelinating leukodystrophy", "leukodystrophy 10", "hypomyelinating leukodystrophy 10", "hld10", "pycr2", "pycr2 leukodystrophy", "related", "microcephaly", "progressive", "leukoencephalopathy", "pycr2 related", "related microcephaly", "microcephaly progressive", "progressive leukoencephalopathy", "pycr2 related microcephaly", "related microcephaly progressive", "microcephaly progressive leukoencephalopathy", "pycr2 related microcephaly progressive", "related microcephaly progressive leukoencephalopathy", "pycr2 related microcephaly progressive leukoencephalopathy", "type", "leukodystrophy type", "type 10", "hypomyelinating leukodystrophy type", "leukodystrophy type 10", "hypomyelinating leukodystrophy type 10", "caused", "by", "mutation", "in", "leukodystrophy caused", "caused by", "by mutation", "mutation in", "in pycr2", "leukodystrophy caused by", "caused by mutation", "by mutation in", "mutation in pycr2", "leukodystrophy caused by mutation", "caused by mutation in", "by mutation in pycr2", "leukodystrophy caused by mutation in", "caused by mutation in pycr2", "leukodystrophy hypomyelinating", "hypomyelinating 10", "leukodystrophy hypomyelinating 10", "hypomyelinating type", "hypomyelinating type 10", "leukodystrophy hypomyelinating type" ] }, { "record_id": "DOID:0060788", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "DOID:0060788", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0060788", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0060788", "record_type": "disease", "section": "species", "phraselist": [ "559292", "saccharomyces", "cerevisiae", "s288c", "saccharomyces cerevisiae", "cerevisiae s288c", "saccharomyces cerevisiae s288c", "yeast", "baker's", "baker's yeast", "s288c 559292", "cerevisiae s288c 559292", "saccharomyces cerevisiae s288c 559292" ] }, { "record_id": "DOID:0060788", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0060788", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0060788", "record_type": "disease", "section": "proteins", "phraselist": [ "f1rdd0", "f1rdd0 1", "f1rdd0_danre", "np_001307354", "pycr1b", "zgc:110655", "q922q4", "q922q4 1", "p5cr2_mouse", "np_598466", "glycoprotein", "pycr2", "1810018m05rik", "p5cr2", "q96c36", "q96c36 1", "p5cr2_human", "np_001258610", "hld10", "p32263", "p32263 1", "p5cr_yeast", "np_010940", "pro3", "ore2", "q6ay23", "q6ay23 1", "p5cr2_rat", "np_001012208", "q9vej3", "q9vej3 1", "q9vej3_drome", "np_650632", "p5cr", "p5cr 2", "cg5840", "ct18319", "dmel\\cg5840", "dmel_cg5840" ] }, { "record_id": "DOID:0060788", "record_type": "disease", "section": "proteins", "phraselist": [ "pyrroline", "carboxylate", "reductase", "pyrroline 5", "5 carboxylate", "carboxylate reductase", "pyrroline 5 carboxylate", "5 carboxylate reductase", "pyrroline 5 carboxylate reductase", "1.5.1.2", "pycr2", "1b", "reductase 1b", "carboxylate reductase 1b", "5 carboxylate reductase 1b", "pyrroline 5 carboxylate reductase 1b", "reductase 2", "carboxylate reductase 2", "5 carboxylate reductase 2", "pyrroline 5 carboxylate reductase 2", "p5c", "p5c reductase", "p5c reductase 2", "p5cr", "p5cr 2", "isoform", "2 isoform", "isoform 2", "reductase 2 isoform", "2 isoform 2", "carboxylate reductase 2 isoform", "reductase 2 isoform 2", "5 carboxylate reductase 2 isoform", "carboxylate reductase 2 isoform 2", "family", "member", "reductase family", "family member", "member 2", "carboxylate reductase family", "reductase family member", "family member 2", "5 carboxylate reductase family", "carboxylate reductase family member", "reductase family member 2", "pyrroline 5 carboxylate reductase family", "5 carboxylate reductase family member", "carboxylate reductase family member 2", "cg5840", "pa", "cg5840 pa", "2 pa", "p5cr 2 pa", "like", "reductase like", "like 2", "isoform a", "carboxylate reductase like", "reductase like 2", "5 carboxylate reductase like", "carboxylate reductase like 2", "like 2 isoform", "2 isoform a", "pyrroline 5 carboxylate reductase like", "5 carboxylate reductase like 2", "reductase like 2 isoform", "like 2 isoform a" ] }, { 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"np_001036068", "nedehc", "rbbp", "rbbp 2" ] }, { "record_id": "DOID:0060809", "record_type": "disease", "section": "proteins", "phraselist": [ "lysine", "specific", "demethylase", "5d", "lysine specific", "specific demethylase", "demethylase 5d", "lysine specific demethylase", "specific demethylase 5d", "lysine specific demethylase 5d", "1.14.11.67", "histone", "jarid1d", "histone demethylase", "demethylase jarid1d", "histone demethylase jarid1d", "jumonji/arid", "domain", "containing", "protein", "1d", "jumonji/arid domain", "domain containing", "containing protein", "protein 1d", "jumonji/arid domain containing", "domain containing protein", "containing protein 1d", "jumonji/arid domain containing protein", "domain containing protein 1d", "jumonji/arid domain containing protein 1d", "smcy", "protein smcy", "h3", "trimethyl", "histone h3", "trimethyl l", "l lysine", "lysine 4", "h3 trimethyl", "trimethyl l lysine", "l lysine 4", "4 demethylase", "histone h3 trimethyl", "h3 trimethyl 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"machado joseph disease spinocerebellar", "joseph disease spinocerebellar ataxia", "disease spinocerebellar ataxia 3", "spinocerebellar ataxia 3 olivopontocerebellar", "ataxia 3 olivopontocerebellar ataxia", "3 olivopontocerebellar ataxia 3", "olivopontocerebellar ataxia 3 autosomal", "ataxia 3 autosomal dominant", "autosomal dominant ataxin 3", "disease protein", "protein 1", "1 homolog", "joseph disease protein", "disease protein 1", "protein 1 homolog", "machado joseph disease protein", "joseph disease protein 1", "disease protein 1 homolog", "machado joseph disease protein 1", "joseph disease protein 1 homolog", "3 isoform 1", "ataxin 3 isoform 1", "type", "ataxia type", "type 2", "2 protein", "protein homolog", "spinocerebellar ataxia type", "ataxia type 2", "type 2 protein", "2 protein homolog", "spinocerebellar ataxia type 2", "ataxia type 2 protein", "type 2 protein homolog", "spinocerebellar ataxia type 2 protein", "ataxia type 2 protein homolog", "dehydrogenase 1", "alcohol dehydrogenase 1", "1.1.1.1", "adh", "a2", "adh a2", "dehydrogenase a", "a subunit", "alcohol dehydrogenase a", "dehydrogenase a subunit", "alcohol dehydrogenase a subunit", "temporal", "liver", "1 temporal", "dehydrogenase 1 temporal", "temporal liver", "alcohol dehydrogenase 1 temporal", "1 temporal liver", "dehydrogenase 1 temporal liver", "complex", "1 complex", "dehydrogenase 1 complex", "alcohol dehydrogenase 1 complex", "electrophoretic", "1 electrophoretic", "dehydrogenase 1 electrophoretic", "alcohol dehydrogenase 1 electrophoretic", "dehydrogenase 3", "alcohol dehydrogenase 3", "3 electrophoretic", "dehydrogenase 3 electrophoretic", "alcohol dehydrogenase 3 electrophoretic", "class i", "i alcohol", "class i alcohol", "i alcohol dehydrogenase", "class i alcohol dehydrogenase", "tau", "protein tau", "associated protein tau", "microtubule associated protein tau", "neurofibrillary", "tangle", "neurofibrillary tangle", "tangle protein", "neurofibrillary tangle protein", "phf", "phf tau", "paired", "helical", "filament", "paired helical", "helical filament", "filament tau", "paired helical filament", "helical filament tau", "paired helical filament tau", "tau isoform", "protein tau isoform", "tau isoform 1", "associated protein tau isoform", "protein tau isoform 1", "microtubule associated protein tau isoform", "associated protein tau isoform 1", "histocompatibility", "antigen", "h 2", "2 class", "ii histocompatibility", "histocompatibility antigen", "e d", "d alpha", "h 2 class", "2 class ii", "class ii histocompatibility", "ii histocompatibility antigen", "antigen e", "e d alpha", "d alpha chain", "h 2 class ii", "2 class ii histocompatibility", "class ii histocompatibility antigen", "histocompatibility antigen e", "antigen e d", "e d alpha chain", "h 2 class ii histocompatibility", "2 class ii histocompatibility antigen", "ii histocompatibility antigen e", "histocompatibility antigen e d", "antigen e d alpha", "h2", "ie", "h2 ie", "ie alpha", "h2 ie alpha", "glutathione", "transferase", "glutathione s", "s transferase", "transferase p", "p 2", "glutathione s transferase", "s transferase p", "transferase p 2", "glutathione s transferase p", "s transferase p 2", "glutathione s transferase p 2", "2.5.1.18", "gst", "yf", "gst yf", "yf yf", "gst yf yf", "pi", "gst class", "class pi", "gst class pi", "pia", "gst pia", "p2", "gst p2", "gst p", "gst p 2", "p 1", "transferase p 1", "s transferase p 1", "glutathione s transferase p 1", "pib", "gst pib", "p1", "gst p1", "gst p 1", "preadipocyte", "growth", "preadipocyte growth", "growth factor", "preadipocyte growth factor", "2.4.1.", "3.2.1.", "3.2.1.46", "beta", "glucosidase", "acid beta", "beta glucosidase", "acid beta glucosidase", "glucocerebrosidase", "beta glucocerebrosidase", "cholesterol", "glucosyltransferase", "cholesterol glucosyltransferase", "cholesteryl", "cholesteryl beta", "cholesteryl beta glucosidase", "glucosyl", "acylsphingosine", "glucohydrolase", "d glucosyl", "glucosyl n", "n acylsphingosine", "acylsphingosine glucohydrolase", "d glucosyl n", "glucosyl n acylsphingosine", "n acylsphingosine glucohydrolase", "d glucosyl n acylsphingosine", "glucosyl n acylsphingosine glucohydrolase", "d glucosyl n acylsphingosine glucohydrolase", "gcase", "acid gcase", "lysosomal acid gcase", "glycosyltransferase", "lysosomal cholesterol", "cholesterol glycosyltransferase", "lysosomal cholesterol glycosyltransferase", "galactosylceramidase", "lysosomal galactosylceramidase", "glycosylceramidase", "lysosomal glycosylceramidase", "sgtase", "glucosidase beta", "beta acid", "glucosidase beta acid", "glucosylceramidase isoform", "acid glucosylceramidase isoform", "glucosylceramidase isoform 1", "lysosomal acid glucosylceramidase isoform", "acid glucosylceramidase isoform 1", "glucosylceramidase isoform 1 precursor", "lysosomal acid glucosylceramidase isoform 1", "acid glucosylceramidase isoform 1 precursor", "tata binding protein", "core", "tfiid core", "core protein", "tfiid core protein", "sgp", "sgp 1", "sulfated", "glycoprotein", "sulfated glycoprotein", "glycoprotein 1", "sulfated glycoprotein 1", "isoform a", "a precursor", "prosaposin isoform a", "isoform a precursor", "prosaposin isoform a precursor", "snorna", "mbii", "198", "snorna mbii", "mbii 198", "snorna mbii 198", "mitochondrial", "processing", "peptidase", "mitochondrial processing", "processing peptidase", "peptidase subunit", "subunit beta", "mitochondrial processing peptidase", "processing peptidase subunit", "peptidase subunit beta", "mitochondrial processing peptidase subunit", "processing peptidase subunit beta", "mitochondrial processing peptidase subunit beta", "3.4.24.64", "mpp", "beta mpp", "52", "p 52", "beta isoform", "subunit beta isoform", "beta isoform 1", "peptidase subunit beta isoform", "subunit beta isoform 1", "beta isoform 1 precursor", "processing peptidase subunit beta isoform", "peptidase subunit beta isoform 1", "subunit beta isoform 1 precursor", "kinase 1", "protein kinase 1", "serine/threonine protein kinase 1", "repeat serine/threonine protein kinase 1", "ubiquitin", "carboxyl", "terminal", "isozyme", "l4", "ubiquitin carboxyl", "carboxyl terminal", "terminal hydrolase", "hydrolase isozyme", "isozyme l4", "ubiquitin carboxyl terminal", "carboxyl terminal hydrolase", "terminal hydrolase isozyme", "hydrolase isozyme l4", "ubiquitin carboxyl terminal hydrolase", "carboxyl terminal hydrolase isozyme", "terminal hydrolase isozyme l4", "ubiquitin carboxyl terminal hydrolase isozyme", "carboxyl terminal hydrolase isozyme l4", "uch", "uch l4", "thioesterase", "ubiquitin thioesterase", "thioesterase l4", "ubiquitin thioesterase l4", "l3", "isozyme l3", "hydrolase isozyme l3", "terminal hydrolase isozyme l3", "carboxyl terminal hydrolase isozyme l3", "uch l3", "thioesterase l3", "ubiquitin thioesterase l3", "l3 isoform", "isoform 3", "isozyme l3 isoform", "l3 isoform 3", "hydrolase isozyme l3 isoform", "isozyme l3 isoform 3", "terminal hydrolase isozyme l3 isoform", "hydrolase isozyme l3 isoform 3", "thiolesterase", "ubiquitin thiolesterase", "l1", "isozyme l1", "hydrolase isozyme l1", "terminal hydrolase isozyme l1", "carboxyl terminal hydrolase isozyme l1", "neuron", "cytoplasmic", "9.5", "neuron cytoplasmic", "cytoplasmic protein", "protein 9.5", "neuron cytoplasmic protein", "cytoplasmic protein 9.5", "neuron cytoplasmic protein 9.5", "pgp", "pgp 9.5", "pgp9.5", "uch l1", "thioesterase l1", "ubiquitin thioesterase l1", "gracile", "axonal", "dystrophy", "gracile axonal", "axonal dystrophy", "gracile axonal dystrophy", "gene", "product", "protein gene", "gene product", "product 9.5", "protein gene product", "gene product 9.5", "protein gene product 9.5", "3.6.5.", "dardarin", "synuclein", "alpha synuclein", "i+/", "i+/ synuclein", "nacp", "component", "of", "ad", "amyloid", "non a", "a beta", "beta component", "component of", "of ad", "ad amyloid", "non a beta", "a beta component", "beta component of", "component of ad", "of ad amyloid", "non a beta component", "a beta component of", "beta component of ad", "component of ad amyloid", "non a beta component of", "a beta component of ad", "beta component of ad amyloid", "a4", "non a4", "a4 component", "of amyloid", "amyloid precursor", "non a4 component", "a4 component of", "component of amyloid", "of amyloid precursor", "non a4 component of", "a4 component of amyloid", "component of amyloid precursor", "non a4 component of amyloid", "a4 component of amyloid precursor", "nacp140", "synuclein isoform", "isoform nacp140", "alpha synuclein isoform", "synuclein isoform nacp140", "alpha synuclein isoform nacp140", "140", "synuclein alpha", "alpha 140", "synuclein alpha 140", "alpha non", "alpha non a4", "synuclein alpha non", "alpha non a4 component", "e3", "ligase", "parkin", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase parkin", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase parkin", "e3 ubiquitin protein ligase", "ubiquitin protein ligase parkin", "e3 ubiquitin protein ligase parkin", "2.3.2.31", "parkin isoform", "ligase parkin isoform", "parkin isoform 1", "protein ligase parkin isoform", "ligase parkin isoform 1", "ubiquitin protein ligase parkin isoform", "protein ligase parkin isoform 1", "rbr", "parkin rbr", "rbr e3", "parkin rbr e3", "rbr e3 ubiquitin", "parkin rbr e3 ubiquitin", "rbr e3 ubiquitin protein", "parkin rbr e3 ubiquitin protein", "rbr e3 ubiquitin protein ligase", "parkinson", "recessive", "juvenile", "parkinson disease", "autosomal recessive", "disease autosomal", "recessive juvenile", "juvenile 2", "2 parkin", "parkinson disease autosomal", "disease autosomal recessive", "autosomal recessive juvenile", "parkinson disease autosomal recessive", "recessive juvenile 2", "juvenile 2 parkin", "protein 2", "parkinson disease protein", "disease protein 2", "parkinson disease protein 2", "parkinson juvenile", "juvenile disease", "parkinson juvenile disease", "juvenile disease protein", "parkinson juvenile disease protein", "juvenile disease protein 2", "parkinson juvenile disease protein 2", "parkinson protein", "2 e3", "parkinson protein 2", "protein 2 e3", "2 e3 ubiquitin", "parkinson protein 2 e3", "protein 2 e3 ubiquitin", "2 e3 ubiquitin protein", "parkinson protein 2 e3 ubiquitin", "protein 2 e3 ubiquitin protein", "2 e3 ubiquitin protein ligase", "protein 7", "disease protein 7", "parkinson disease protein 7", "3.1.2.", "3.5.1.", "3.5.1.124", "dj", "dj 1", "maillard", "deglycase", "maillard deglycase", "oncogene", "dj1", "oncogene dj1", "early", "onset", "early onset", "recessive early", "onset 7", "autosomal recessive early", "recessive early onset", "early onset 7", "autosomal recessive early onset", "parkinsonism", "parkinsonism associated", "associated deglycase", "parkinsonism associated deglycase", "protein dj", "protein dj 1", "protein/nucleic", "protein/nucleic acid", "acid deglycase", "deglycase dj", "protein/nucleic acid deglycase", "acid deglycase dj", "deglycase dj 1", "protein/nucleic acid deglycase dj", "acid deglycase dj 1", "protein/nucleic acid deglycase dj 1", "epididymis", "secretory", "sperm", "li", "67p", "epididymis secretory", "secretory sperm", "sperm binding", "protein li", "li 67p", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "binding protein li", "protein li 67p", "epididymis secretory sperm binding", "secretory sperm binding protein", "sperm binding protein li", "binding protein li 67p", "epididymis secretory sperm binding protein", "secretory sperm binding protein li", "sperm binding protein li 67p", "parkinson protein 7", "protein deglycase", "protein deglycase dj", "protein deglycase dj 1", "synphilin", "synphilin 1", "interacting", "synuclein interacting", "interacting protein", "alpha synuclein interacting", "synuclein interacting protein", "alpha synuclein interacting protein", "sph1", "isoform 1a", "synphilin 1 isoform", "1 isoform 1a", "synphilin 1 isoform 1a", "endosomal/lysosomal", "proton", "channel", "tmem175", "endosomal/lysosomal proton", "proton channel", "channel tmem175", "endosomal/lysosomal proton channel", "proton channel tmem175", "endosomal/lysosomal proton channel tmem175", "potassium", "potassium channel", "potassium channel tmem175", "transmembrane", "175", "transmembrane protein", "protein 175", "transmembrane protein 175", "endosomal/lysomomal", "endosomal/lysomomal potassium", "endosomal/lysomomal potassium channel", "endosomal/lysomomal potassium channel tmem175", "endosomal/lysosomal potassium", "endosomal/lysosomal potassium channel", "endosomal/lysosomal potassium channel tmem175", "tmem175 isoform", "channel tmem175 isoform", "tmem175 isoform 3", "proton channel tmem175 isoform", "channel tmem175 isoform 3", "endosomal/lysosomal proton channel tmem175 isoform", "proton channel tmem175 isoform 3", "htmem175", "serine", "protease", "htra2", "serine protease", "protease htra2", "serine protease htra2", "htra2 mitochondrial", "protease htra2 mitochondrial", "serine protease htra2 mitochondrial", "3.4.21.108", "high", "temperature", "requirement", "high temperature", "temperature requirement", "requirement protein", "protein a2", "high temperature requirement", "temperature requirement protein", "requirement protein a2", "high temperature requirement protein", "temperature requirement protein a2", "high temperature requirement protein a2", "htra", "htra like", "like serine", "htra like serine", "like serine protease", "htra like serine protease", "omi", "stress", "regulated", "endoprotease", "omi stress", "stress regulated", "regulated endoprotease", "omi stress regulated", "stress regulated endoprotease", "omi stress regulated endoprotease", "25", "protease 25", "serine protease 25", "proteinase", "serine proteinase", "proteinase omi", "serine proteinase omi", "protease serine", "serine 25", "protease serine 25", "preproprotein", "mitochondrial isoform", "3 preproprotein", "mitochondrial isoform 3", "isoform 3 preproprotein", "htra2 mitochondrial isoform", "mitochondrial isoform 3 preproprotein", "protease htra2 mitochondrial isoform", "htra2 mitochondrial isoform 3", "alglucerase", "gc", "beta gc", "beta glucosylceramidase", "glucosylceramidase 1", "beta glucosylceramidase 1", "glucosylceramidase beta", "beta 1", "glucosylceramidase beta 1", "imiglucerase", "glucosylceramidase like", "like protein", "glucosylceramidase like protein", "lysosomal glucocerebrosidase", "dnaj", "subfamily", "member", "13", "dnaj homolog", "homolog subfamily", "subfamily c", "c member", "member 13", "dnaj homolog subfamily", "homolog subfamily c", "subfamily c member", "c member 13", "dnaj homolog subfamily c", "homolog subfamily c member", "subfamily c member 13", "dnaj homolog subfamily c member", "homolog subfamily c member 13", "hsp40", "dnaj hsp40", "hsp40 homolog", "dnaj hsp40 homolog", "hsp40 homolog subfamily", "domain", "containing", "rme", "dnaj domain", "domain containing", "containing protein", "protein rme", "rme 8", "dnaj domain containing", "domain containing protein", "containing protein rme", "protein rme 8", "dnaj domain containing protein", "domain containing protein rme", "containing protein rme 8", "dnaj domain containing protein rme", "domain containing protein rme 8", "required", "for", "receptor", "mediated", "endocytosis", "required for", "for receptor", "receptor mediated", "mediated endocytosis", "endocytosis 8", "required for receptor", "for receptor mediated", "receptor mediated endocytosis", "mediated endocytosis 8", "required for receptor mediated", "for receptor mediated endocytosis", "receptor mediated endocytosis 8", "required for receptor mediated endocytosis", "for receptor mediated endocytosis 8", "13 isoform", "isoform 2", "member 13 isoform", "13 isoform 2", "c member 13 isoform", "member 13 isoform 2", "subfamily c member 13 isoform", "c member 13 isoform 2", "pink1", "kinase pink1", "protein kinase pink1", "pink1 mitochondrial", "serine/threonine protein kinase pink1", "kinase pink1 mitochondrial", "protein kinase pink1 mitochondrial", "brpk", "pten", "induced", "putative", "pten induced", "induced putative", "putative kinase", "pten induced putative", "induced putative kinase", "putative kinase 1", "pten induced putative kinase", "induced putative kinase 1", "pten induced putative kinase 1", "kinase protein", "putative kinase protein", "kinase protein 1", "induced putative kinase protein", "putative kinase protein 1", "pten induced putative kinase protein", "induced putative kinase protein 1", "kinase brpk", "protein kinase brpk", "mitochondrial precursor", "pink1 mitochondrial precursor", "kinase pink1 mitochondrial precursor", "230", "protein 230", "transmembrane protein 230", "upf0414", "c20orf30", "upf0414 transmembrane", "protein c20orf30", "upf0414 transmembrane protein", "transmembrane protein c20orf30", "upf0414 transmembrane protein c20orf30", "230 isoform", "protein 230 isoform", "230 isoform 2", "transmembrane protein 230 isoform", "protein 230 isoform 2", "transmembrane protein 230 isoform 2", "4f", "p150", "eukaryotic initiation", "factor 4f", "4f subunit", "subunit p150", "eukaryotic initiation factor", "initiation factor 4f", "factor 4f subunit", "4f subunit p150", "eukaryotic initiation factor 4f", "initiation factor 4f subunit", "factor 4f subunit p150", "eukaryotic initiation factor 4f subunit", "initiation factor 4f subunit p150", "4 4", "f 6", "subunit gamma", "gamma 3", "factor 4 4", "4 f", "6 subunit", "subunit gamma 3", "3 protein", "initiation factor 4 4", "4 4 f", "4 f 6", "f 6 subunit", "6 subunit gamma", "gamma 3 protein", "3 protein 1", "translation initiation factor 4 4", "factor 4 4 f", "4 4 f 6", "f 6 subunit gamma", "6 subunit gamma 3", "subunit gamma 3 protein", "gamma 3 protein 1", "eif 4f", "4f p150", "eif 4f p150", "eif4f", "eif4f p150", "eif4g1", "mrna", "cap", "mrna cap", "cap binding", "protein complex", "complex subunit", "mrna cap binding", "cap binding protein", "binding protein complex", "protein complex subunit", "complex subunit p150", "mrna cap binding protein", "cap binding protein complex", "binding protein complex subunit", "protein complex subunit p150", "mrna cap binding protein complex", "cap binding protein complex subunit", "binding protein complex subunit p150", "eif4g", "factor eif4g", "initiation factor eif4g", "translation initiation factor eif4g", "pab1", "pab1 binding", "pab1 binding protein", "binding protein 1", "pab1 binding protein 1", "pbp1p", "poly", "poly a", "protein binding", "a binding", "binding protein binding", "protein binding protein", "poly a binding", "a binding protein", "binding protein binding protein", "poly a binding protein", "a binding protein binding", "hydroxymethyl", "hydroxymethyl glutathione", "glutathione dehydrogenase", "s hydroxymethyl", "hydroxymethyl glutathione dehydrogenase", "s hydroxymethyl glutathione", "s hydroxymethyl glutathione dehydrogenase", "1.1.1.", "1.1.1.284", "sfa", "dehydrogenase sfa", "alcohol dehydrogenase sfa", "faldh", "fdh", "fld", "gsh", "gsh fdh", "dependent", "formaldehyde", "glutathione dependent", "dependent formaldehyde", "formaldehyde dehydrogenase", "glutathione dependent formaldehyde", "dependent formaldehyde dehydrogenase", "glutathione dependent formaldehyde dehydrogenase", "bifunctional", "dehydrogenase/s", "bifunctional alcohol", "alcohol dehydrogenase/s", "bifunctional alcohol dehydrogenase/s", "dehydrogenase/s hydroxymethyl", "alcohol dehydrogenase/s hydroxymethyl", "dehydrogenase/s hydroxymethyl glutathione", "bifunctional alcohol dehydrogenase/s hydroxymethyl", "alcohol dehydrogenase/s hydroxymethyl glutathione", "dehydrogenase/s hydroxymethyl glutathione dehydrogenase", "transcription factor", "factor d", "transcription factor d", "assembly", "mitochondrial assembly", "assembly protein", "mitochondrial assembly protein", "assembly protein 1", "mitochondrial assembly protein 1", "pep", "enhancing", "processing enhancing", "enhancing protein", "processing enhancing protein", "cytochrome", "c1", "cytochrome b", "b c1", "c1 complex", "subunit 1", "cytochrome b c1", "b c1 complex", "c1 complex subunit", "complex subunit 1", "1 mitochondrial", "cytochrome b c1 complex", "b c1 complex subunit", "c1 complex subunit 1", "subunit 1 mitochondrial", "cytochrome b c1 complex subunit", "b c1 complex subunit 1", "complex subunit 1 mitochondrial", "iii", "complex iii", "iii subunit", "complex iii subunit", "iii subunit 1", "complex iii subunit 1", "protein i", "core protein i", "ubiquinol", "oxidoreductase", "ubiquinol cytochrome", "cytochrome c", "c oxidoreductase", "oxidoreductase core", "ubiquinol cytochrome c", "cytochrome c oxidoreductase", "c oxidoreductase core", "oxidoreductase core protein", "core protein 1", "ubiquinol cytochrome c oxidoreductase", "cytochrome c oxidoreductase core", "c oxidoreductase core protein", "oxidoreductase core protein 1", "ubiquinol cytochrome c oxidoreductase core", "cytochrome c oxidoreductase core protein", "c oxidoreductase core protein 1", "reductase", "44", "kda", "c reductase", "reductase 44", "44 kda", "kda protein", "cytochrome c reductase", "c reductase 44", "reductase 44 kda", "44 kda protein", "ubiquinol cytochrome c reductase", "cytochrome c reductase 44", "c reductase 44 kda", "reductase 44 kda protein", "ubiquinol cytochrome c reductase 44", "cytochrome c reductase 44 kda", "c reductase 44 kda protein", "cor1", "reductase subunit", "subunit cor1", "c reductase subunit", "reductase subunit cor1", "cytochrome c reductase subunit", "c reductase subunit cor1", "cytochrome c reductase subunit cor1", "yuh1", "hydrolase yuh1", "terminal hydrolase yuh1", "carboxyl terminal hydrolase yuh1", "ubiquitin carboxyl terminal hydrolase yuh1", "ubiquitin specific", "specific protease", "protease yuh1", "ubiquitin specific protease", "specific protease yuh1", "ubiquitin specific protease yuh1", "1 isoform x1", "gamma 1 isoform x1", "4 gamma 1 isoform x1", "polypeptide", "alpha polypeptide", "dehydrogenase class i", "i alpha", "alcohol dehydrogenase class i", "class i alpha", "i alpha polypeptide", "gamma polypeptide", "1 class", "dehydrogenase 1 class", "1 class i", "i gamma", "alcohol dehydrogenase 1 class", "dehydrogenase 1 class i", "class i gamma", "i gamma polypeptide", "chain 7", "gst 7", "7 7", "gst 7 7", "placental", "enzyme", "placental enzyme", "enzyme pi", "pi type", "transferase placental", "placental enzyme pi", "enzyme pi type", "s transferase placental", "transferase placental enzyme", "placental enzyme pi type", "glutathione s transferase placental", "s transferase placental enzyme", "transferase placental enzyme pi", "pi 2", "transferase pi", "s transferase pi", "transferase pi 2", "glutathione s transferase pi", "s transferase pi 2", "glucosylceramidase precursor", "acid glucosylceramidase precursor", "lysosomal acid glucosylceramidase precursor", "binding protein isoform", "protein isoform 1", "box binding protein isoform", "binding protein isoform 1", "tata box binding protein isoform", "box binding protein isoform 1", "sphingolipid", "activator", "sphingolipid hydrolase", "hydrolase activator", "prosaposin sulfated", "glycoprotein sphingolipid", "sphingolipid hydrolase activator", "prosaposin sulfated glycoprotein", "sulfated glycoprotein sphingolipid", "glycoprotein sphingolipid hydrolase", "sulfated glycoprotein sphingolipid hydrolase", "glycoprotein sphingolipid hydrolase activator", "isoform b", "b preproprotein", "prosaposin isoform b", "isoform b preproprotein", "prosaposin isoform b preproprotein", "carboxy", "ubiquitin carboxy", "carboxy terminal", "hydrolase l1", "ubiquitin carboxy terminal", "carboxy terminal hydrolase", "terminal hydrolase l1", "ubiquitin carboxy terminal hydrolase", "carboxy terminal hydrolase l1", "ubiquitin carboxy terminal hydrolase l1", "esterase", "terminal esterase", "esterase l1", "carboxyl terminal esterase", "terminal esterase l1", "l1 ubiquitin", "ubiquitin carboxyl terminal esterase", "carboxyl terminal esterase l1", "esterase l1 ubiquitin", "l1 ubiquitin thiolesterase", "ubiquitin carboxyl terminal esterase l1", "terminal esterase l1 ubiquitin", "esterase l1 ubiquitin thiolesterase", "peptidase beta", "beta subunit", "processing peptidase beta", "peptidase beta subunit", "mitochondrial processing peptidase beta", "processing peptidase beta subunit", "mitochondrial processing peptidase beta subunit", "beta precursor", "subunit beta precursor", "peptidase subunit beta precursor", "processing peptidase subunit beta precursor", "peptidase mitochondrial", "processing beta", "peptidase mitochondrial processing", "mitochondrial processing beta", "processing beta subunit", "mitochondrial processing beta subunit", "peptidase mitochondrial processing beta", "esterase l3", "terminal esterase l3", "l3 ubiquitin", "carboxyl terminal esterase l3", "esterase l3 ubiquitin", "l3 ubiquitin thiolesterase", "ubiquitin carboxyl terminal esterase l3", "terminal esterase l3 ubiquitin", "esterase l3 ubiquitin thiolesterase", "l3 isoform 2", "isozyme l3 isoform 2", "hydrolase isozyme l3 isoform 2", "cg10811", "pb", "cg10811 pb", "factor 4g1", "initiation factor 4g1", "4g1 isoform", "translation initiation factor 4g1", "factor 4g1 isoform", "4g1 isoform b", "eukaryotic translation initiation factor 4g1", "initiation factor 4g1 isoform", "factor 4g1 isoform b", "factor 4g", "initiation factor 4g", "eukaryotic initiation factor 4g", "eif4g1 pb", "translation initiation factor 4g", "eukaryotic translation initiation factor 4g", "2 homolog", "ataxin 2 homolog", "isoform d", "ataxin 2 isoform", "2 isoform d", "ataxin 2 isoform d", "ataxin2", "atx2", "pd", "atx2 pd", "cg5166", "cg5166 pd", "datx2", "anon", "fast", "evolving", "2e1", "anon fast", "fast evolving", "evolving 2e1", "anon fast evolving", "fast evolving 2e1", "anon fast evolving 2e1", "dataxin", "dataxin 2", "1.1.1.73", "class iii", "dehydrogenase class iii", "alcohol dehydrogenase class iii", "cg6598", "pa", "cg6598 pa", "fdh pa", "octanol", "octanol dehydrogenase", "cg45110", "pg", "cg45110 pg", "isoform g", "tau isoform g", "tau pg", "cg31148", "cg31148 pa", "gba1a", "gba1a pa", "glucocerebrosidase 1a", "cg31414", "cg31414 pb", "gba1b", "gba1b pb", "1b", "glucocerebrosidase 1b", "1b isoform", "glucocerebrosidase 1b isoform", "1b isoform b", "glucocerebrosidase 1b isoform b", "42kda", "42kda polypeptide", "cg9874", "cg9874 pa", "tbp pa", "110kd", "110kd protein", "cg12070", "cg12070 pa", "sap", "sap r", "r pa", "sap r pa", "saposin", "related", "saposin related", "related isoform", "saposin related isoform", "related isoform a", "saposin related isoform a", "saposin r", "drosophila", "aggregation", "promoting", "activity", "drosophila aggregation", "aggregation promoting", "promoting activity", "drosophila aggregation promoting", "aggregation promoting activity", "drosophila aggregation promoting activity", "cg3731", "cg3731 pb", "uqcr", "uqcr c1", "c1 pb", "uqcr c1 pb", "reductase complex", "complex core", "c reductase complex", "reductase complex core", "complex core protein", "cytochrome c reductase complex", "c reductase complex core", "reductase complex core protein", "complex core protein i", "ubiquinol cytochrome c reductase complex", "cytochrome c reductase complex core", "c reductase complex core protein", "reductase complex core protein i", "reductase core", "c reductase core", "reductase core protein", "cytochrome c reductase core", "c reductase core protein", "reductase core protein 1", "protein 1 isoform", "1 isoform b", "ubiquinol cytochrome c reductase core", "cytochrome c reductase core protein", "c reductase core protein 1", "core protein 1 isoform", "protein 1 isoform b", "processing protease", "mitochondrial processing protease", "cg5483", "cg5483 pd", "lrrk", "repeat kinase", "rich repeat kinase", "kinase isoform", "leucine rich repeat kinase", "repeat kinase isoform", "kinase isoform d", "rich 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"wr", "q9vg82", "q9vg82 1", "cp9f2_drome", "np_650189", "cyp9f2", "9f2", "cg11466", "cyp", "cyp 9f2", "dmel\\cg11466", "anon", "est:posey150", "anon est:posey150", "q9v4i0", "q9v4i0 1", "cp9b1_drome", "np_523645", "cyp9b1", "9b1", "cg4485", "dmel\\cg4485", "q9v6h1", "q9v6h1 1", "cp9h1_drome", "np_610820", "cyp9h1", "9h1", "cg17577", "dmel\\cg17577", "b7yzx0", "b7yzx0 1", "b7yzx0_drome", "np_001137842", "hasp", "cg10186", "ct28647", "dmel\\cg10186", "dmel_cg10186", "est:posey189", "anon est:posey189", "q9w130", "q9w130 1", "cp9c1_drome", "np_523850", "cyp9c1", "9c1", "cg3616", "dmel\\cg3616", "q10714", "q10714 1", "ace_drome", "np_001285915", "ance", "bg:ds08220.3", "cg8827", "dmel\\cg8827", "dmel_cg8827", "race", "est:fe3d10", "anon est:fe3d10", "p19622", "p19622 1", "hme2_human", "np_001418", "en2", "p21462", "p21462 1", "fpr1_human", "np_001180235", "fpr1", "fmlp", "fpr", "p51530", "p51530 1", "dna2_human", "np_001073918", "dna2", "dna2l", "kiaa0083", "rts4", "hdna2", "p41567", "p41567 1", "eif1_human", "np_005792", "eif1", "a121", "eif", "eif 1", "eif1a", "iso1", "sui1", "q9ugm3", "q9ugm3 1", "dmbt1_human", "np_001307573", "dmbt1", "gp340", "sag", "salsa", "muclin", "p05121", "p05121 1", "pai1_human", "np_000593", "pai", "pai 1", "p11215", "p11215 1", "itam_human", "np_000623", "cd11b", "cr3a", "hna", "hna 4", "mac", "mac 1", "mac1a", "mo1a", "sleb6", "p13726", "p13726 1", "tf_human", "np_001171567", "tfa", "p29965", "p29965 1", "cd40l_human", "np_000065", "hcd40l", "p04004", "p04004 1", "vtnc_human", "np_000629", "v75", "vnt", "p04070", "p04070 1", "proc_human", "np_000303", "apc", "proc1", "thph3", "thph4", "p17301", "p17301 1", "ita2_human", "np_002194", "br", "fmait3", "vla", "vla 2", "vlaa2", "p12318", "p12318 1", "fcg2a_human", "np_001129691", "cd32a", "cdw32", "fcg2", "fcgr2a1", "fcgr", "fcgammariia", "igfr2", "o60674", "o60674 1", "jak2_human", "np_001309123", "jtk10", "p42338", "p42338 1", "pk3cb_human", "np_006210", "pi3kbeta", "pi3k", "pik3c1", "p04275", "p04275 1", "vwf_human", "np_000543", "p21730", "p21730 1", "c5ar1_human", "np_001727", "q9h244", "q9h244 1", "p2y12_human", "np_073625", "adpg", "adpg r", "bdplt8", "hork3", "p2t", "ac", "p2t ac", "p2y", "12", "p2y 12", "12 r", "p2y 12 r", "p2y ac", "adp", "p2y adp", "cyc", "p2y cyc", "sp1999", "p02749", "p02749 1", "apoh_human", "np_000033", "b2g1", "bg", "p00734", "p00734 1", "thrb_human", "np_000497", "pt", "rprgl2", "thph1", "q9byf1", "q9byf1 1", "ace2_human", "np_068576", "aceh", "pro1885", "p24557", "p24557 1", "thas_human", "np_001159726", "bdplt14", "ghosal", "p01008", "p01008 1", "ant3_human", "np_000479", "at3d", "r2", "atiii r2", "t1", "atiii t1", "t2", "atiii t2", "pro0309", "thph7", "p00749", "p00749 1", "urok_human", "np_001138503", "atf", "bdplt5", "qpd", "urk", "p14780", "p14780 1", "mmp9_human", "np_004985", "gelb", "mandp2", "p03956", "p03956 1", "mmp1_human", "np_002412", "clg", "p42898", "p42898 1", "mthr_human", "np_001317287", "mthfr", "p08254", "p08254 1", "mmp3_human", "np_002413", "chds6", "stmy", "p04196", "p04196 1", "hrg_human", "np_000403", "thph11", "p02675", "p02675 1", "fibb_human", "np_001171670", "hel", "78p", "hel s", "s 78p", "hel s 78p", "p03951", "p03951 1", "fa11_human", "np_000119", "p12259", "p12259 1", "fa5_human", "np_000121", "fvl", "pccf", "rprgl1", "thph2", "fv" ] }, { "record_id": "DOID:0060903", "record_type": "disease", "section": "proteins", "phraselist": [ "tyrosine", "protein", "kinase", "tyrosine protein", "protein kinase", "tyrosine protein kinase", "2.7.10.2", "jak2a", "isoform", "x1", "kinase jak2a", "jak2a isoform", "isoform x1", "protein kinase jak2a", "kinase jak2a isoform", "jak2a isoform x1", "tyrosine protein kinase jak2a", "protein kinase jak2a isoform", "kinase jak2a isoform x1", "tyrosine protein kinase jak2a isoform", "protein kinase jak2a isoform x1", "prothrombin", "3.4.21.5", "coagulation", "factor", "ii", "coagulation factor", "factor ii", "coagulation factor ii", "integrin", "alpha", "integrin alpha", "alpha 2", "integrin alpha 2", "p2y", "purinoceptor", "12", "p2y purinoceptor", "purinoceptor 12", "12 isoform", "p2y purinoceptor 12", "purinoceptor 12 isoform", "12 isoform x1", "p2y purinoceptor 12 isoform", "purinoceptor 12 isoform x1", "p2y purinoceptor 12 isoform x1", "purinergic", "receptor", "coupled", "purinergic receptor", "receptor p2y", "g protein", "protein coupled", "purinergic receptor p2y", "p2y g", "g protein coupled", "coupled 12", "receptor p2y g", "p2y g protein", "protein coupled 12", "purinergic receptor p2y g", "receptor p2y g protein", "p2y g protein coupled", "g protein coupled 12", "c5a", "anaphylatoxin", "chemotactic", "c5a anaphylatoxin", "anaphylatoxin chemotactic", "chemotactic receptor", "receptor 1", "c5a anaphylatoxin chemotactic", "anaphylatoxin chemotactic receptor", "chemotactic receptor 1", "c5a anaphylatoxin chemotactic receptor", "anaphylatoxin chemotactic receptor 1", "c5a anaphylatoxin chemotactic receptor 1", "c5a r", "c5ar", "phosphatidylinositol", "bisphosphate", "phosphatidylinositol 4", "4 5", "5 bisphosphate", "bisphosphate 3", "3 kinase", "phosphatidylinositol 4 5", "4 5 bisphosphate", "5 bisphosphate 3", "bisphosphate 3 kinase", "phosphatidylinositol 4 5 bisphosphate", "4 5 bisphosphate 3", "5 bisphosphate 3 kinase", "phosphatidylinositol 4 5 bisphosphate 3", "4 5 bisphosphate 3 kinase", "2.7.1.153", "catalytic", "subunit", "beta", "kinase catalytic", "catalytic subunit", "subunit beta", "beta isoform", "isoform isoform", "3 kinase catalytic", "kinase catalytic subunit", "catalytic subunit beta", "subunit beta isoform", "beta isoform isoform", "isoform isoform x1", "bisphosphate 3 kinase catalytic", "3 kinase catalytic subunit", "kinase catalytic subunit beta", "catalytic subunit beta isoform", "subunit beta isoform isoform", "beta isoform isoform x1", "5 bisphosphate 3 kinase catalytic", "bisphosphate 3 kinase catalytic subunit", "3 kinase catalytic subunit beta", "kinase catalytic subunit beta isoform", "catalytic subunit beta isoform isoform", "subunit beta isoform isoform x1", "glycoprotein", "beta 2", "2 glycoprotein", "glycoprotein 1", "beta 2 glycoprotein", "2 glycoprotein 1", "beta 2 glycoprotein 1", "apolipoprotein", "apolipoprotein h", "glycoprotein i", "2 glycoprotein i", "beta 2 glycoprotein i", "like", "precursor", "1 like", "like precursor", "glycoprotein 1 like", "1 like precursor", "2 glycoprotein 1 like", "glycoprotein 1 like precursor", "beta 2 glycoprotein 1 like", "2 glycoprotein 1 like precursor", "vitronectin", "vitronectin b", "b precursor", "vitronectin b precursor", "tissue", "tissue factor", "iii", "factor iii", "coagulation factor iii", "tfb", "iiib", "factor iiib", "iiib precursor", "coagulation factor iiib", "factor iiib precursor", "coagulation factor iiib precursor", "jak2", "kinase jak2", "protein kinase jak2", "tyrosine protein kinase jak2", "jak", "jak 2", "janus", "janus kinase", "kinase 2", "janus kinase 2", "preproprotein", "prothrombin preproprotein", "thrombin", "factor v", "coagulation factor v", "activated", "cofactor", "activated protein", "protein c", "c cofactor", "activated protein c", "protein c cofactor", "activated protein c cofactor", "v preproprotein", "factor v preproprotein", "coagulation factor v preproprotein", "xi", "factor xi", "coagulation factor xi", "3.4.21.27", "fxi", "pta", "plasma", "thromboplastin", "antecedent", "plasma thromboplastin", "thromboplastin antecedent", "plasma thromboplastin antecedent", "xi isoform", "isoform 1", "1 preproprotein", "factor xi isoform", "xi isoform 1", "isoform 1 preproprotein", "coagulation factor xi isoform", "factor xi isoform 1", "xi isoform 1 preproprotein", "coagulation factor xi isoform 1", "factor xi isoform 1 preproprotein", "histidine", "rich", "histidine rich", "rich glycoprotein", "histidine rich glycoprotein", "hprg", "proline", "histidine proline", "proline rich", "histidine proline rich", "proline rich glycoprotein", "histidine proline rich glycoprotein", "glycoprotein precursor", "rich glycoprotein precursor", "histidine rich glycoprotein precursor", "fibrinogen", "chain", "fibrinogen beta", "beta chain", "fibrinogen beta chain", "chain preproprotein", "beta chain preproprotein", "fibrinogen beta chain preproprotein", "polypeptide", "b beta", "beta polypeptide", "fibrinogen b", "b beta polypeptide", "fibrinogen b beta", "fibrinogen b beta polypeptide", "cd49", "antigen", "family", "member", "cd49 antigen", "antigen like", "like family", "family member", "member b", "cd49 antigen like", "antigen like family", "like family member", "family member b", "cd49 antigen like family", "antigen like family member", "like family member b", "cd49 antigen like family member", "antigen like family member b", "collagen", "collagen receptor", "gpia", "platelet", "membrane", "ia", "platelet membrane", "membrane glycoprotein", "glycoprotein ia", "platelet membrane glycoprotein", "membrane glycoprotein ia", "platelet membrane glycoprotein ia", "vla", "vla 2", "2 receptor", "2 subunit", "vla 2 receptor", "receptor alpha", "alpha 2 subunit", "2 receptor alpha", "receptor alpha 2", "vla 2 receptor alpha", "2 receptor alpha 2", "receptor alpha 2 subunit", "subunit alpha", "vla 2 subunit", "2 subunit alpha", "vla 2 subunit alpha", "2 precursor", "alpha 2 precursor", "integrin alpha 2 precursor", "stromelysin", "stromelysin 1", "3.4.24.17", "ems", "ems 2", "mmp", "mmp 3", "matrix", "metalloproteinase", "matrix metalloproteinase", "metalloproteinase 3", "matrix metalloproteinase 3", "sl", "sl 1", "transin", "transin 1", "progelatinase", "stromelysin 1 preproprotein", "antithrombin", "antithrombin iii", "atiii", "serpin", "c1", "serpin c1", "anti", "anti thrombin", "thrombin 3", "anti thrombin 3", "iii isoform", "1 precursor", "antithrombin iii isoform", "iii isoform 1", "isoform 1 precursor", "antithrombin iii isoform 1", "iii isoform 1 precursor", "antithrombin iii isoform 1 precursor", "serine", "or", "cysteine", "proteinase", "inhibitor", "clade", "or cysteine", "proteinase inhibitor", "clade c", "member 1", "serine or", "cysteine proteinase", "inhibitor clade", "c antithrombin", "serine or cysteine", "or cysteine proteinase", "cysteine proteinase inhibitor", "proteinase inhibitor clade", "inhibitor clade c", "clade c antithrombin", "antithrombin member", "or cysteine proteinase inhibitor", "proteinase inhibitor clade c", "antithrombin member 1", "peptidase", "serpin peptidase", "peptidase inhibitor", "serpin peptidase inhibitor", "c member", "peptidase inhibitor clade", "clade c member", "c member 1", "serpin peptidase inhibitor clade", "peptidase inhibitor clade c", "clade c member 1", "plasminogen", "activator", "plasminogen activator", "activator inhibitor", "inhibitor 1", "plasminogen activator inhibitor", "activator inhibitor 1", "plasminogen activator inhibitor 1", "endothelial", "endothelial plasminogen", "endothelial plasminogen activator", "endothelial plasminogen activator inhibitor", "pai", "pai 1", "e1", "serpin e1", "interstitial", "collagenase", "interstitial collagenase", "collagenase b", "interstitial collagenase b", "3.4.24.7", "1b", "mmp 1b", "metalloproteinase 1b", "matrix metalloproteinase 1b", "mcol", "mcol b", "collagenase a", "interstitial collagenase a", "1a", "mmp 1a", "metalloproteinase 1a", "matrix metalloproteinase 1a", "mcol a", "collagenase like", "like a", "collagenase like a", "a preproprotein", "collagenase a preproprotein", "interstitial collagenase a preproprotein", "1a interstitial", "metalloproteinase 1a interstitial", "1a interstitial collagenase", "matrix metalloproteinase 1a interstitial", "metalloproteinase 1a interstitial collagenase", "metalloproteinase 9", "matrix metalloproteinase 9", "3.4.24.35", "92", "kda", "gelatinase", "92 kda", "kda gelatinase", "92 kda gelatinase", "type", "iv", "kda type", "type iv", "iv collagenase", "92 kda type", "kda type iv", "type iv collagenase", "92 kda type iv", "kda type iv collagenase", "92 kda type iv collagenase", "92kd", "92kd gelatinase", "92kd type", "92kd type iv", "92kd type iv collagenase", "gelb", "gelatinase b", "mmp 9", "ivb", "collagenase type", "type ivb", "collagenase type ivb", "9 preproprotein", "metalloproteinase 9 preproprotein", "matrix metalloproteinase 9 preproprotein", "2.7.11.1", "pi3", "pi3 kinase", "kinase subunit", "pi3 kinase subunit", "kinase subunit beta", "pi3 kinase subunit beta", "pi3k", "pi3k beta", "pi3kbeta", "110", "kinase 110", "110 kda", "kda catalytic", "3 kinase 110", "kinase 110 kda", "110 kda catalytic", "kda catalytic subunit", "bisphosphate 3 kinase 110", "3 kinase 110 kda", "kinase 110 kda catalytic", "110 kda catalytic subunit", "kda catalytic subunit beta", "5 bisphosphate 3 kinase 110", "bisphosphate 3 kinase 110 kda", "3 kinase 110 kda catalytic", "kinase 110 kda catalytic subunit", "110 kda catalytic subunit beta", "ptdins", "ptdins 3", "ptdins 3 kinase", "3 kinase subunit", "ptdins 3 kinase subunit", "3 kinase subunit beta", "ptdins 3 kinase subunit beta", "p110", "subunit p110", "p110 beta", "kinase subunit p110", "subunit p110 beta", "3 kinase subunit p110", "kinase subunit p110 beta", "ptdins 3 kinase subunit p110", "3 kinase subunit p110 beta", "serine/threonine", "pik3cb", "serine/threonine protein", "kinase pik3cb", "serine/threonine protein kinase", "protein kinase pik3cb", "serine/threonine protein kinase pik3cb", "p110beta", "phosphatidylinositol 3", "phosphatidylinositol 3 kinase", "catalytic beta", "catalytic beta polypeptide", "phosphatidylinositol 3 kinase catalytic", "kinase catalytic beta", "von", "willebrand", "von willebrand", "willebrand factor", "von willebrand factor", "homolog", "factor homolog", "willebrand factor homolog", "von willebrand factor homolog", "vwf", "willebrand antigen", "antigen ii", "von willebrand antigen", "willebrand antigen ii", "von willebrand antigen ii", "factor precursor", "willebrand factor precursor", "von willebrand factor precursor", "p2y12", "anaphylatoxin receptor", "c5a anaphylatoxin receptor", "ligand", "c5a ligand", "complement", "component", "complement component", "component 5", "complement component 5", "5 receptor", "component 5 receptor", "5 receptor 1", "complement component 5 receptor", "component 5 receptor 1", "low", "affinity", "immunoglobulin", "gamma", "fc", "region", "low affinity", "affinity immunoglobulin", "immunoglobulin gamma", "gamma fc", "fc region", "region receptor", "receptor ii", "low affinity immunoglobulin", "affinity immunoglobulin gamma", "immunoglobulin gamma fc", "gamma fc region", "fc region receptor", "region receptor ii", "low affinity immunoglobulin gamma", "affinity immunoglobulin gamma fc", "immunoglobulin gamma fc region", "gamma fc region receptor", "fc region receptor ii", "low affinity immunoglobulin gamma fc", "affinity immunoglobulin gamma fc region", "immunoglobulin gamma fc region receptor", "gamma fc region receptor ii", "riib", "fc gamma", "gamma riib", "fc gamma riib", "iib", "gamma receptor", "receptor iib", "fc gamma receptor", "gamma receptor iib", "fc gamma receptor iib", "rii", "gamma rii", "fc gamma rii", "fcrii", "fcgammariib", "igg", "igg fc", "fc receptor", "ii beta", "igg fc receptor", "fc receptor ii", "receptor ii beta", "igg fc receptor ii", "fc receptor ii beta", "igg fc receptor ii beta", "ly", "17", "ly 17", "lymphocyte", "lymphocyte antigen", "antigen 17", "lymphocyte antigen 17", "ii b", "b isoform", "isoform 2", "receptor ii b", "ii b isoform", "b isoform 2", "isoform 2 precursor", "region receptor ii b", "receptor ii b isoform", "ii b isoform 2", "b isoform 2 precursor", "fc region receptor ii b", "region receptor ii b isoform", "receptor ii b isoform 2", "ii b isoform 2 precursor", "receptor iii", "region receptor iii", "fc region receptor iii", "gamma fc region receptor iii", "riii", "gamma riii", "fc gamma riii", "fcriii", "fc receptor iii", "igg fc receptor iii", "apc", "apc inhibitor", "binding", "c binding", "binding protein", "protein c binding", "c binding protein", "activated protein c binding", "protein c binding protein", "activated protein c binding protein", "apo", "apo h", "b2gpi", "gpi", "2 gpi", "beta 2 gpi", "glycoprotein 1 precursor", "2 glycoprotein 1 precursor", "beta 2 glycoprotein 1 precursor", "angiotensin", "converting", "enzyme", "angiotensin converting", "converting enzyme", "enzyme 2", "angiotensin converting enzyme", "converting enzyme 2", "angiotensin converting enzyme 2", "3.4.17.", "3.4.17.23", "ace", "related", "carboxypeptidase", "ace related", "related carboxypeptidase", "ace related carboxypeptidase", "peptidyl", "dipeptidase", "angiotensin i", "i converting", "peptidyl dipeptidase", "dipeptidase a", "angiotensin i converting", "i converting enzyme", "enzyme peptidyl", "peptidyl dipeptidase a", "a 2", "angiotensin i converting enzyme", "converting enzyme peptidyl", "enzyme peptidyl dipeptidase", "dipeptidase a 2", "i converting enzyme peptidyl", "converting enzyme peptidyl dipeptidase", "enzyme peptidyl dipeptidase a", "peptidyl dipeptidase a 2", "i converting enzyme 2", "angiotensin i converting enzyme 2", "enzyme 2 precursor", "converting enzyme 2 precursor", "angiotensin converting enzyme 2 precursor", "cd40", "cd40 ligand", "cd40 l", "cell", "gp39", "t cell", "cell antigen", "antigen gp39", "t cell antigen", "cell antigen gp39", "t cell antigen gp39", "tnf", "activation", "tnf related", "related activation", "activation protein", "tnf related activation", "related activation protein", "tnf related activation protein", "trap", "tumor", "necrosis", "superfamily", "tumor necrosis", "necrosis factor", "factor ligand", "ligand superfamily", "superfamily member", "member 5", "tumor necrosis factor", "necrosis factor ligand", "factor ligand superfamily", "ligand superfamily member", "superfamily member 5", "tumor necrosis factor ligand", "necrosis factor ligand superfamily", "factor ligand superfamily member", "ligand superfamily member 5", "tumor necrosis factor ligand superfamily", "necrosis factor ligand superfamily member", "factor ligand superfamily member 5", "8b", "ligand 8b", "factor ligand 8b", "necrosis factor ligand 8b", "tumor necrosis factor ligand 8b", "thromboxane", "synthase", "thromboxane a", "a synthase", "thromboxane a synthase", "4.2.1.152", "5.3.99.5", "cytochrome", "p450", "5a1", "cytochrome p450", "p450 5a1", "cytochrome p450 5a1", "hydroperoxy", "icosatetraenoate", "dehydratase", "hydroperoxy icosatetraenoate", "icosatetraenoate dehydratase", "hydroperoxy icosatetraenoate dehydratase", "ts", "txa", "txa synthase", "txs", "thromboxane synthase", "synthase isoform", "a synthase isoform", "synthase isoform 1", "thromboxane a synthase isoform", "a synthase isoform 1", "thromboxane a synthase isoform 1", "vitamin", "dependent", "vitamin k", "k dependent", "dependent protein", "vitamin k dependent", "k dependent protein", "dependent protein c", "vitamin k dependent protein", "k dependent protein c", "vitamin k dependent protein c", "3.4.21.69", "anticoagulant", "anticoagulant protein", "anticoagulant protein c", "autoprothrombin", "iia", "autoprothrombin iia", "blood", "xiv", "blood coagulation", "factor xiv", "blood coagulation factor", "coagulation factor xiv", "blood coagulation factor xiv", "inactivator", "of", "factors", "va", "viii", "inactivator of", "of coagulation", "coagulation factors", "factors va", "inactivator of coagulation", "of coagulation factors", "coagulation factors va", "va viii", "inactivator of coagulation factors", "of coagulation factors va", "factors va viii", "inactivator of coagulation factors va", "coagulation factors va viii", "c isoform", "2 preproprotein", "protein c isoform", "c isoform 2", "isoform 2 preproprotein", "dependent protein c isoform", "protein c isoform 2", "c isoform 2 preproprotein", "k dependent protein c isoform", "dependent protein c isoform 2", "protein c isoform 2 preproprotein", "s protein", "serum", "spreading", "serum spreading", "spreading factor", "serum spreading factor", "vn", "vitronectin precursor", "urokinase", "urokinase type", "type plasminogen", "urokinase type plasminogen", "type plasminogen activator", "urokinase type plasminogen activator", "3.4.21.73", "u plasminogen", "u plasminogen activator", "upa", "activator precursor", "plasminogen activator precursor", "type plasminogen activator precursor", "urokinase type plasminogen activator precursor", "tf", "tissue factor precursor", "alpha m", "integrin alpha m", "cd11", "cd11 antigen", "cd11 antigen like", "cd11 antigen like family", "cd11 antigen like family member", "cr", "cr 3", "3 alpha", "alpha chain", "cr 3 alpha", "3 alpha chain", "cr 3 alpha chain", "surface", "mac", "cell surface", "surface glycoprotein", "glycoprotein mac", "mac 1", "1 subunit", "cell surface glycoprotein", "surface glycoprotein mac", "glycoprotein mac 1", "mac 1 subunit", "1 subunit alpha", "cell surface glycoprotein mac", "surface glycoprotein mac 1", "glycoprotein mac 1 subunit", "mac 1 subunit alpha", "cell surface glycoprotein mac 1", "surface glycoprotein mac 1 subunit", "glycoprotein mac 1 subunit alpha", "leukocyte", "adhesion", "mo1", "leukocyte adhesion", "adhesion receptor", "receptor mo1", "leukocyte adhesion receptor", "adhesion receptor mo1", "leukocyte adhesion receptor mo1", "thromboxa", "ane", "thromboxa ane", "ane synthase", "synthase 1", "thromboxa ane synthase", "ane synthase 1", "thromboxa ane synthase 1", "a synthase 1", "1 platelet", "thromboxane a synthase 1", "synthase 1 platelet", "a synthase 1 platelet", "anigotensin", "anigotensin converting", "enzyme related", "anigotensin converting enzyme", "converting enzyme related", "enzyme related carboxypeptidase", "anigotensin converting enzyme related", "converting enzyme related carboxypeptidase", "anigotensin converting enzyme related carboxypeptidase", "renal", "renal angiotensin", "renal angiotensin converting", "renal angiotensin converting enzyme", "renal angiotensin converting enzyme 2", "cd154", "ligand cd154", "cd40 ligand cd154", "kinase p110", "p110 subunit", "pi3 kinase p110", "kinase p110 subunit", "p110 subunit beta", "pi3 kinase p110 subunit", "kinase p110 subunit beta", "pi3 kinase p110 subunit beta", "catalytic phosphatidylinositol", "kinase beta", "catalytic phosphatidylinositol 3", "3 kinase beta", "catalytic phosphatidylinositol 3 kinase", "phosphatidylinositol 3 kinase beta", "catalytic phosphatidylinositol 3 kinase beta", "phosphoinositide", "phosphoinositide 3", "phosphoinositide 3 kinase", "phosphoinositide 3 kinase catalytic", "3 kinase p110", "ptdins 3 kinase p110", "1 isoform", "receptor 1 isoform", "1 isoform x1", "chemotactic receptor 1 isoform", "receptor 1 isoform x1", "anaphylatoxin chemotactic receptor 1 isoform", "chemotactic receptor 1 isoform x1", "adp", "p2y12 platelet", "platelet adp", "adp receptor", "p2y12 platelet adp", "platelet adp receptor", "p2y12 platelet adp receptor", "hrg1", "rich glycoprotein 1", "histidine rich glycoprotein 1", "glycoprotein 2", "rich glycoprotein 2", "histidine rich glycoprotein 2", "glycoprotein like", "like 1", "rich glycoprotein like", "glycoprotein like 1", "like 1 precursor", "histidine rich glycoprotein like", "rich glycoprotein like 1", "glycoprotein like 1 precursor", "histidine rich glycoprotein like 1", "rich glycoprotein like 1 precursor", "ubiquitin", "specific", "ubiquitin specific", "specific peptidase", "peptidase 17", "17 like", "member 8", "ubiquitin specific peptidase", "specific peptidase 17", "peptidase 17 like", "17 like family", "family member 8", "ubiquitin specific peptidase 17", "specific peptidase 17 like", "peptidase 17 like family", "17 like family member", "like family member 8", "ubiquitin specific peptidase 17 like", "specific peptidase 17 like family", "peptidase 17 like family member", "17 like family member 8", "liver", "regeneration", "lrrg036/lrrg043/lrrg189", "liver regeneration", "regeneration related", "related protein", "protein lrrg036/lrrg043/lrrg189", "liver regeneration related", "regeneration related protein", "related protein lrrg036/lrrg043/lrrg189", "liver regeneration related protein", "regeneration related protein lrrg036/lrrg043/lrrg189", "liver regeneration related protein lrrg036/lrrg043/lrrg189", "beta fibrinogen", "chain precursor", "beta chain precursor", "fibrinogen beta chain precursor", "fibrinogen beta polypeptide", "platelet glycoprotein", "platelet glycoprotein ia", "a protein", "protein tyrosine", "tyrosine kinase", "2 a", "a protein tyrosine", "protein tyrosine kinase", "kinase 2 a", "2 a protein", "a protein tyrosine kinase", "janus kinase 2 a", "kinase 2 a protein", "2 a protein tyrosine", "ptr1", "ptr1 protein", "inhibitor 1 precursor", "activator inhibitor 1 precursor", "plasminogen activator inhibitor 1 precursor", "clade e", "cysteine peptidase", "e member", "or cysteine peptidase", "cysteine peptidase inhibitor", "inhibitor clade e", "clade e member", "e member 1", "or cysteine peptidase inhibitor", "peptidase inhibitor clade e", "clade e member 1", "nexin", "inhibitor type", "type 1", "e nexin", "nexin plasminogen", "activator inhibitor type", "inhibitor type 1", "clade e nexin", "nexin plasminogen activator", "plasminogen activator inhibitor type", "activator inhibitor type 1", "1 member", "proteinase inhibitor clade e", "e nexin plasminogen", "nexin plasminogen activator inhibitor", "plasminogen activator inhibitor type 1", "type 1 member", "1 member 1", "inhibitor member", "proteinase inhibitor member", "inhibitor member 1", "proteinase inhibitor member 1", "a like", "collagenase a like", "interstitial collagenase a like", "collagenase b precursor", "interstitial collagenase b precursor", "b like", "collagenase b like", "interstitial collagenase b like", "1b interstitial", "metalloproteinase 1b interstitial", "1b interstitial collagenase", "matrix metalloproteinase 1b interstitial", "metalloproteinase 1b interstitial collagenase", "fibroblast", "fibroblast collagenase", "mmp 1", "metalloproteinase 1", "matrix metalloproteinase 1", "myocardial", "myocardial collagenase", "9 gelatinase", "b 92", "metalloproteinase 9 gelatinase", "9 gelatinase b", "gelatinase b 92", "b 92 kda", "matrix metalloproteinase 9 gelatinase", "metalloproteinase 9 gelatinase b", "gelatinase b 92 kda", "b 92 kda type", "9 precursor", "metalloproteinase 9 precursor", "matrix metalloproteinase 9 precursor", "fragment", "for", "cd32", "fc fragment", "fragment of", "of igg", "igg low", "affinity iia", "iia receptor", "receptor for", "fc fragment of", "fragment of igg", "of igg low", "igg low affinity", "low affinity iia", "affinity iia receptor", "iia receptor for", "for cd32", "fc fragment of igg", "fragment of igg low", "of igg low affinity", "igg low affinity iia", "low affinity iia receptor", "affinity iia receptor for", "receptor for cd32", "fc fragment of igg low", "fragment of igg low affinity", "of igg low affinity iia", "igg low affinity iia receptor", "low affinity iia receptor for", "iia receptor for cd32", "igg receptor", "receptor iia", "of igg receptor", "igg receptor iia", "fragment of igg receptor", "of igg receptor iia", "fc fragment of igg receptor", "fragment of igg receptor iia", "receptor cd32", "iia receptor cd32", "gamma receptor iia", "fc gamma receptor iia", "affinity iii", "receptor igg", "low affinity iii", "fc receptor igg", "receptor igg low", "igg low affinity iii", "receptor iii isoform", "region receptor iii isoform", "receptor iii isoform 1", "fc region receptor iii isoform", "region receptor iii isoform 1", "c precursor", "protein c precursor", "dependent protein c precursor", "k dependent protein c precursor", "alpha d", "integrin alpha d", "retinoblastoma", "retinoblastoma like", "like protein", "protein 2", "retinoblastoma like protein", "like protein 2", "retinoblastoma like protein 2", "130", "associated", "130 kda", "kda retinoblastoma", "retinoblastoma associated", "associated protein", "130 kda retinoblastoma", "kda retinoblastoma associated", "retinoblastoma associated protein", "130 kda retinoblastoma associated", "kda retinoblastoma associated protein", "130 kda retinoblastoma associated protein", "p130", "ppar", "interacting", "complex", "128", "ppar alpha", "alpha interacting", "interacting complex", "complex protein", "protein 128", "ppar alpha interacting", "alpha interacting complex", "interacting complex protein", "complex protein 128", "ppar alpha interacting complex", "alpha interacting complex protein", "interacting complex protein 128", "ppar alpha interacting complex protein", "alpha interacting complex protein 128", "prb2", "pric128", "rbr", "rbr 2", "retinoblastoma related", "retinoblastoma related protein", "related protein 2", "retinoblastoma related protein 2", "like 2", "retinoblastoma like 2", "retinoic", "acid", "retinoic acid", "acid receptor", "receptor beta", "retinoic acid receptor", "acid receptor beta", "retinoic acid receptor beta", "nuclear", "subfamily", "group", "nuclear receptor", "receptor subfamily", "subfamily 1", "1 group", "group b", "b member", "member 2", "nuclear receptor subfamily", "receptor subfamily 1", "subfamily 1 group", "1 group b", "group b member", "b member 2", "nuclear receptor subfamily 1", "receptor subfamily 1 group", "subfamily 1 group b", "1 group b member", "group b member 2", "nuclear receptor subfamily 1 group", "receptor subfamily 1 group b", "subfamily 1 group b member", "1 group b member 2", "ras", "rab", "4a", "ras related", "protein rab", "rab 4a", "ras related protein", "related protein rab", "protein rab 4a", "ras related protein rab", "related protein rab 4a", "ras related protein rab 4a", "3.6.5.2", "small", "gtp", "related small", "small gtp", "gtp binding", "protein 4", "ras related small", "related small gtp", "small gtp binding", "gtp binding protein", "binding protein 4", "ras related small gtp", "related small gtp binding", "small gtp binding protein", "gtp binding protein 4", "ras related small gtp binding", "related small gtp binding protein", "small gtp binding protein 4", "hydrolase", "rbbp9", "serine hydrolase", "hydrolase rbbp9", "serine hydrolase rbbp9", "3.1.", "3.1. .", "b5t", "overexpressed", "gene", "b5t overexpressed", "overexpressed gene", "gene protein", "b5t overexpressed gene", "overexpressed gene protein", "b5t overexpressed gene protein", "bog", "protein bog", "rbbp", "rbbp 9", "retinoblastoma binding", "protein 9", "retinoblastoma binding protein", "binding protein 9", "retinoblastoma binding protein 9", "putative", "putative hydrolase", "putative hydrolase rbbp9", "hopscotch", "kinase hopscotch", "protein kinase hopscotch", "tyrosine protein kinase hopscotch", "cg1594", "pa", "cg1594 pa", "hop", "jak kinase", "janus family", "family kinase", "janus family kinase", "hop pa", "hopskotch", "locus", "18", "locus 18", "tumorous", "terminal", "domain", "containing", "fibrinogen c", "c terminal", "terminal domain", "domain containing", "containing protein", "fibrinogen c terminal", "c terminal domain", "terminal domain containing", "domain containing protein", "fibrinogen c terminal domain", "c terminal domain containing", "terminal domain containing protein", "fibrinogen c terminal domain containing", "c terminal domain containing protein", "cg9593", "pb", "cg9593 pb", "fibrinogen related", "fibrinogen related protein", "uncharacterized", "uncharacterized protein", "cg6788", "cg6788 pa", "ps4", "alpha ps4", "integrin alpha ps4", "cg16827", "cg16827 pa", "itgaps4", "itgaps4 pa", "position", "position specific", "specific antigen", "antigen subunit", "alpha 4", "position specific antigen", "specific antigen subunit", "antigen subunit alpha", "subunit alpha 4", "position specific antigen subunit", "specific antigen subunit alpha", "antigen subunit alpha 4", "position specific antigen subunit alpha", "specific antigen subunit alpha 4", "alphaps4", "alphaps4 integrin", "integrin alphaps4", "alphaps4 subunit", "integrin alphaps4 subunit", "ps3", "alpha ps3", "integrin alpha ps3", "cg8095", "cg8095 pb", "alpha 3", "subunit alpha 3", "antigen subunit alpha 3", "specific antigen subunit alpha 3", "scab", "protein scab", "volado", "protein volado", "avolado", "alpha position", "antigen 3", "alpha position specific", "specific antigen 3", "alpha position specific antigen", "position specific antigen 3", "alpha position specific antigen 3", "alpha3", "alpha3 integrin", "integrin subunit", "alpha3 integrin subunit", "alphaps3", "alphaps3 integrin", "beta ps3", "ps3 integrin", "beta ps3 integrin", "complementation", "2.11", "complementation group", "group 2.11", "complementation group 2.11", "integrin alphaps3", "alphaps3 subunit", "integrin alphaps3 subunit", "laminin", "laminin receptor", "receptor integrin", "laminin receptor integrin", "receptor integrin alpha", "laminin receptor integrin alpha", "receptor integrin alpha ps3", "laminin receptor integrin alpha ps3", "lethal", "51ea", "lethal 2", "2 51ea", "lethal 2 51ea", "isoform b", "scab isoform", "scab isoform b", "scb", "scb pb", "cg31902", "cg31902 pb", "28da", "serpin 28da", "spn28da", "spn28da pb", "cg6687", "cg6687 pa", "dm", "88eb", "dm serpin", "serpin 88eb", "dm serpin 88eb", "spn88eb", "spn88eb pa", "cg8137", "cg8137 pa", "28f", "serpin 28f", "spn28f", "spn28f pa", "protease", "serine protease", "protease inhibitor", "inhibitor 2", "serine protease inhibitor", "protease inhibitor 2", "serine protease inhibitor 2", "serpin 2", "cg33121", "cg33121 pb", "28db", "serpin 28db", "spn28db", "spn28db pb", "cg9334", "cg9334 pa", "38f", "serpin 38f", "isoform a", "38f isoform", "serpin 38f isoform", "38f isoform a", "serpin 38f isoform a", "spn38f", "spn38f pa", "inhibitor 3", "protease inhibitor 3", "serine protease inhibitor 3", "serpin 3", "27a", "inhibitor 27a", "protease inhibitor 27a", "serine protease inhibitor 27a", "cg11331", "cg11331 pb", "serpin 27a", "dm serpin 27a", "serpin27a", "spn27a", "spn27a pb", "27a isoform", "serpin 27a isoform", "27a isoform b", "serpin 27a isoform b", "cg4804", "cg4804 pa", "31a", "serpin 31a", "spn31a", "spn31a pa", "88ea", "inhibitor 88ea", "protease inhibitor 88ea", "serine protease inhibitor 88ea", "cg18525", "cg18525 pa", "serpin 88ea", "dm serpin 88ea", "spn88ea", "spn88ea pa", "inhibitor 5", "protease inhibitor 5", "serine protease inhibitor 5", "serpin 5", "88ea isoform", "serpin 88ea isoform", "88ea isoform a", "serpin 88ea isoform a", "serpin5", "cg6717", "cg6717 pb", "28b", "serpin 28b", "28b isoform", "serpin 28b isoform", "28b isoform a", "serpin 28b isoform a", "28b isoform b", "serpin 28b isoform b", "spn28b", "spn28b pb", "inhibitor 7", "protease inhibitor 7", "serine protease inhibitor 7", "42dd", "inhibitor 42dd", "protease inhibitor 42dd", "serine protease inhibitor 42dd", "cg9456", "cg9456 pb", "serpin 42dd", "spn42dd", "spn42dd pb", "protease inhibitor 1", "serine protease inhibitor 1", "serpin 1", "28dc", "inhibitor 28dc", "protease inhibitor 28dc", "serine protease inhibitor 28dc", "cg7219", "cg7219 pa", "28d", "serpin 28d", "dm serpin 28d", "serpin 28dc", "serpin28dc", "spn28dc", "spn28dc pa", "9b2", "p450 9b2", "cytochrome p450 9b2", "1.14.", "1.14. .", "cg4486", "cg4486 pa", "cypixb2", "cyp9b2", "cyp9b2 pa", "fly", "plexin", "fly plexin", "plexin a", "fly plexin a", "enzyme related protein", "angiotensin converting enzyme related", "converting enzyme related protein", "angiotensin converting enzyme related protein", "3.4.15.1", "acer", "acer pb", "enzyme peptidase", "converting enzyme peptidase", "angiotensin converting enzyme peptidase", "related isoform", "enzyme related isoform", "related isoform b", "converting enzyme related isoform", "enzyme related isoform b", "cg10593", "cg10593 pb", "cg17875", "cg17875 pb", "cyp9f3", "cyp9f3 pb", "cyp9f3psi", "9f3", "p450 9f3", "cytochrome p450 9f3", "cg1500", "pc", "cg1500 pc", "furrowed", "furrowed isoform", "furrowed isoform a", "isoform c", "furrowed isoform c", "fw", "fw pc", "wrinkled", "probable", "9f2", "probable cytochrome", "p450 9f2", "probable cytochrome p450", "cytochrome p450 9f2", "probable cytochrome p450 9f2", "cg11466", "cg11466 pa", "cypixf2", "cyp9f2", "cyp9f2 pa", "9b1", "p450 9b1", "cytochrome p450 9b1", "cg4485", "cg4485 pa", "cypixb1", "cyp9b1", "cyp9b1 pa", "9h1", "p450 9h1", "cytochrome p450 9h1", "probable cytochrome p450 9h1", "cg17577", "cg17577 pa", "cypixh1", "cyp9h1", "cyp9h1 pa", "cg10186", "pg", "cg10186 pg", "hasp", "hasp pg", "hig", "anchoring", "scaffold", "hig anchoring", "anchoring scaffold", "scaffold protein", "isoform g", "hig anchoring scaffold", "anchoring scaffold protein", "protein isoform", "hig anchoring scaffold protein", "scaffold protein isoform", "protein isoform g", "anchoring scaffold protein isoform", "scaffold protein isoform g", "isoform h", "protein isoform h", "scaffold protein isoform h", "9c1", "p450 9c1", "cytochrome p450 9c1", "cg3616", "cg3616 pa", "cypixc1", "cyp9c1", "cyp9c1 pa", "ance", "ance pc", "cg8827", "cg8827 pc", "dipeptidyl", "dipeptidyl carboxypeptidase", "carboxypeptidase i", "dipeptidyl carboxypeptidase i", "kininase", "kininase ii", "enzyme isoform", "converting enzyme isoform", "enzyme isoform c", "angiotensin converting enzyme isoform", "converting enzyme isoform c", "anon", "fast", "evolving", "3d10", "anon fast", "fast evolving", "evolving 3d10", "anon fast evolving", "fast evolving 3d10", "anon fast evolving 3d10", "race", "to", "related to", "to angiotensin", "related to angiotensin", "to angiotensin converting", "related to angiotensin converting", "to angiotensin converting enzyme", "related to angiotensin converting enzyme", "homeobox", "engrailed", "homeobox protein", "protein engrailed", "engrailed 2", "homeobox protein engrailed", "protein engrailed 2", "homeobox protein engrailed 2", "en", "protein en", "en 2", "homeobox protein en", "protein en 2", "homeobox protein en 2", "hu", "hu en", "hu en 2", "engrailed homolog", "homolog 2", "engrailed homolog 2", "formyl", "peptide", "n formyl", "formyl peptide", "peptide receptor", "n formyl peptide", "formyl peptide receptor", "peptide receptor 1", "n formyl peptide receptor", "formyl peptide receptor 1", "n formyl peptide receptor 1", "formylpeptide", "chemoattractant", "n formylpeptide", "formylpeptide chemoattractant", "chemoattractant receptor", "n formylpeptide chemoattractant", "formylpeptide chemoattractant receptor", "n formylpeptide chemoattractant receptor", "fmlp", "fmlp receptor", "fmet", "leu", "phe", "fmet leu", "leu phe", "phe receptor", "fmet leu phe", "leu phe receptor", "fmet leu phe receptor", "dna", "replication", "atp", "helicase/nuclease", "dna2", "dna replication", "replication atp", "atp dependent", "dependent helicase/nuclease", "helicase/nuclease dna2", "dna replication atp", "replication atp dependent", "atp dependent helicase/nuclease", "dependent helicase/nuclease dna2", "dna replication atp dependent", "replication atp dependent helicase/nuclease", "atp dependent helicase/nuclease dna2", "dna replication atp dependent helicase/nuclease", "replication atp dependent helicase/nuclease dna2", "5'", "3'", "helicase", "dna 5'", "5' 3'", "3' helicase", "helicase dna2", "dna 5' 3'", "5' 3' helicase", "3' helicase dna2", "dna 5' 3' helicase", "5' 3' helicase dna2", "dna 5' 3' helicase dna2", "dependent helicase", "helicase like", "like homolog", "atp dependent helicase", "dependent helicase like", "helicase like homolog", "replication atp dependent helicase", "atp dependent helicase like", "dependent helicase like homolog", "dna replication atp dependent helicase", "replication atp dependent helicase like", "atp dependent helicase like homolog", "replication helicase", "helicase 2", "2 homolog", "dna replication helicase", "replication helicase 2", "helicase 2 homolog", "dna replication helicase 2", "replication helicase 2 homolog", "dna replication helicase 2 homolog", "dna2 dna", "2 like", "dna2 dna replication", "helicase 2 like", "dna2 dna replication helicase", "replication helicase 2 like", "dna2 dna replication helicase 2", "dna replication helicase 2 like", "dna2 like", "like helicase", "dna2 like helicase", "hdna2", "eukaryotic", "translation", "initiation", "eukaryotic translation", "translation initiation", "initiation factor", "factor 1", "eukaryotic translation initiation", "translation initiation factor", "initiation factor 1", "eukaryotic translation initiation factor", "translation initiation factor 1", "eukaryotic translation initiation factor 1", "a121", "sui1", "protein translation", "translation factor", "factor sui1", "sui1 homolog", "protein translation factor", "translation factor sui1", "factor sui1 homolog", "protein translation factor sui1", "translation factor sui1 homolog", "protein translation factor sui1 homolog", "sui1iso1", "eif1", "scavenger", "dmbt1", "scavenger receptor", "receptor cysteine", "cysteine rich", "rich domain", "protein dmbt1", "scavenger receptor cysteine", "receptor cysteine rich", "cysteine rich domain", "rich domain containing", "containing protein dmbt1", "scavenger receptor cysteine rich", "receptor cysteine rich domain", "cysteine rich domain containing", "rich domain containing protein", "domain containing protein dmbt1", "scavenger receptor cysteine rich domain", "receptor cysteine rich domain containing", "cysteine rich domain containing protein", "rich domain containing protein dmbt1", "deleted", "in", "malignant", "brain", "tumors", "deleted in", "in malignant", "malignant brain", "brain tumors", "tumors 1", "1 protein", "deleted in malignant", "in malignant brain", "malignant brain tumors", "brain tumors 1", "tumors 1 protein", "deleted in malignant brain", "in malignant brain tumors", "malignant brain tumors 1", "brain tumors 1 protein", "deleted in malignant brain tumors", "in malignant brain tumors 1", "malignant brain tumors 1 protein", "340", "glycoprotein 340", "gp", "gp 340", "hensin", "sag", "salivary", "agglutinin", "salivary agglutinin", "surfactant", "pulmonary", "surfactant pulmonary", "pulmonary associated", "associated d", "d binding", "surfactant pulmonary associated", "pulmonary associated d", "associated d binding", "d binding protein", "surfactant pulmonary associated d", "pulmonary associated d binding", "associated d binding protein", "surfactant pulmonary associated d binding", "pulmonary associated d binding protein", "and", "salivary scavenger", "scavenger and", "and agglutinin", "salivary scavenger and", "scavenger and agglutinin", "salivary scavenger and agglutinin", "dmbt1 isoform", "isoform d", "d precursor", "protein dmbt1 isoform", "dmbt1 isoform d", "isoform d precursor", "containing protein dmbt1 isoform", "protein dmbt1 isoform d", "dmbt1 isoform d precursor", "domain containing protein dmbt1 isoform", "containing protein dmbt1 isoform d", "protein dmbt1 isoform d precursor", "vomeroglandin", "inhibitor 1 isoform", "1 isoform 2", "activator inhibitor 1 isoform", "inhibitor 1 isoform 2", "1 isoform 2 precursor", "plasminogen activator inhibitor 1 isoform", "activator inhibitor 1 isoform 2", "inhibitor 1 isoform 2 precursor", "neutrophil", "adherence", "neutrophil adherence", "adherence receptor", "neutrophil adherence receptor", "cd11b", "p170", "antigen cd11b", "cd11b p170", "antigen cd11b p170", "human", "human neutrophil", "neutrophil antigen", "antigen 4", "human neutrophil antigen", "neutrophil antigen 4", "human neutrophil antigen 4", "m isoform", "alpha m isoform", "m isoform 2", "integrin alpha m isoform", "alpha m isoform 2", "m isoform 2 precursor", "integrin alpha m isoform 2", "alpha m isoform 2 precursor", "component 3", "3 receptor", "receptor 3", "3 subunit", "m complement", "complement component 3", "component 3 receptor", "3 receptor 3", "receptor 3 subunit", "alpha m complement", "m complement component", "complement component 3 receptor", "component 3 receptor 3", "3 receptor 3 subunit", "alpha m complement component", "m complement component 3", "complement component 3 receptor 3", "component 3 receptor 3 subunit", "macrophage", "macrophage antigen", "antigen alpha", "alpha polypeptide", "macrophage antigen alpha", "antigen alpha polypeptide", "macrophage antigen alpha polypeptide", "macrophage 1", "1 antigen", "alpha subunit", "macrophage 1 antigen", "1 antigen alpha", "antigen alpha subunit", "macrophage 1 antigen alpha", "1 antigen alpha subunit", "macrophage 1 antigen alpha subunit", "m subunit", "adherence receptor alpha", "receptor alpha m", "alpha m subunit", "neutrophil adherence receptor alpha", "adherence receptor alpha m", "receptor alpha m subunit", "neutrophil adherence receptor alpha m", "adherence receptor alpha m subunit", "iii thromboplastin", "thromboplastin tissue", "factor iii thromboplastin", "thromboplastin tissue factor", "coagulation factor iii thromboplastin", "iii thromboplastin tissue", "factor isoform", "tissue factor isoform", "factor isoform 2", "tissue factor isoform 2", "factor isoform 2 precursor", "tissue factor isoform 2 precursor", "cd40 antigen", "antigen ligand", "cd40 antigen ligand", "activating", "molecule", "t b", "b cell", "cell activating", "activating molecule", "t b cell", "b cell activating", "cell activating molecule", "t b cell activating", "b cell activating molecule", "t b cell activating molecule", "v75", "complement s", "complement s protein", "epibolin", "somatomedin", "somatomedin b", "nagoya", "c nagoya", "protein c nagoya", "prepro", "prepro protein", "prepro protein c", "type i", "i protein", "type i protein", "i protein c", "type i protein c", "10", "isoform 10", "10 preproprotein", "c isoform 10", "isoform 10 preproprotein", "protein c isoform 10", "c isoform 10 preproprotein", "dependent protein c isoform 10", "protein c isoform 10 preproprotein", "2 integrin", "alpha 2 integrin", "alloantigen", "human platelet", "platelet alloantigen", "alloantigen 5", "human platelet alloantigen", "platelet alloantigen 5", "human platelet alloantigen 5", "system", "alloantigen system", "system 5", "platelet alloantigen system", "alloantigen system 5", "human platelet alloantigen system", "platelet alloantigen system 5", "human platelet alloantigen system 5", "cd49b", "subunit of", "of vla", "2 cd49b", "cd49b alpha", "2 subunit of", "subunit of vla", "of vla 2", "alpha 2 cd49b", "cd49b alpha 2", "alpha 2 subunit of", "2 subunit of vla", "subunit of vla 2", "of vla 2 receptor", "2 cd49b alpha", "cd49b alpha 2 subunit", "alpha 2 subunit of vla", "2 subunit of vla 2", "subunit of vla 2 receptor", "br", "platelet antigen", "antigen br", "platelet antigen br", "glycoprotein gpia", "platelet glycoprotein gpia", "very", "late", "very late", "late activation", "very late activation", "late activation protein", "activation protein 2", "protein 2 receptor", "very late activation protein", "late activation protein 2", "activation protein 2 receptor", "very late activation protein 2", "late activation protein 2 receptor", "protein 2 receptor 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"p450 family 5", "family 5 subfamily", "5 subfamily a", "subfamily a polypeptide", "a polypeptide 1", "cytochrome p450 family 5", "family 5 subfamily a", "subfamily a polypeptide 1", "subfamily v", "platelet cytochrome", "p450 subfamily", "platelet cytochrome p450", "cytochrome p450 subfamily", "p450 subfamily v", "cytochrome p450 subfamily v", "isoform 4", "synthase isoform 4", "a synthase isoform 4", "thromboxane a synthase isoform 4", "inhibitor clade c member", "serpin peptidase inhibitor clade c", "peptidase inhibitor clade c member", "inhibitor clade c member 1", "urinary", "activator urinary", "plasminogen activator urinary", "activator isoform", "plasminogen activator isoform", "activator isoform 2", "type plasminogen activator isoform", "plasminogen activator isoform 2", "urokinase type plasminogen activator isoform", "type plasminogen activator isoform 2", "macrophage gelatinase", "metallopeptidase", "92kda", "matrix metallopeptidase", "metallopeptidase 9", "92kda gelatinase", "92kda type", "matrix metallopeptidase 9", "b 92kda", "gelatinase 92kda", "92kda type iv", "metallopeptidase 9 gelatinase", "gelatinase b 92kda", "b 92kda gelatinase", "92kda gelatinase 92kda", "gelatinase 92kda type", "92kda type iv collagenase", "matrix metallopeptidase 9 gelatinase", "metallopeptidase 9 gelatinase b", "gelatinase b 92kda gelatinase", "92kda gelatinase 92kda type", "gelatinase 92kda type iv", "type v", "v collagenase", "type v collagenase", "collagenase isoform", "interstitial collagenase isoform", "collagenase isoform 1", "interstitial collagenase isoform 1", "collagenase isoform 1 preproprotein", "interstitial collagenase isoform 1 preproprotein", "metallopeptidase 1", "matrix metallopeptidase 1", "1 interstitial", "metallopeptidase 1 interstitial", "1 interstitial collagenase", "matrix metallopeptidase 1 interstitial", "metallopeptidase 1 interstitial collagenase", "matrix metalloprotease", "metalloprotease 1", "matrix metalloprotease 1", "methylenetetrahydrofolate", "reductase", "nadph", "methylenetetrahydrofolate reductase", "reductase nadph", "methylenetetrahydrofolate reductase nadph", "1.5.1.53", "5 10", "10 methylenetetrahydrofolate", "5 10 methylenetetrahydrofolate", "10 methylenetetrahydrofolate reductase", "5 10 methylenetetrahydrofolate reductase", "10 methylenetetrahydrofolate reductase nadph", "nad", "nad p", "p h", "reductase nad", "nad p h", "methylenetetrahydrofolate reductase nad", "reductase nad p", "methylenetetrahydrofolate reductase nad p", "reductase nad p h", "nadph isoform", "nadph isoform 1", "reductase nadph isoform", "3 stromelysin", "1 progelatinase", "metalloproteinase 3 stromelysin", "3 stromelysin 1", "stromelysin 1 progelatinase", "matrix metalloproteinase 3 stromelysin", "metalloproteinase 3 stromelysin 1", "proteoglycanase", "li", "78p", "protein li", "li 78p", "binding protein li", "protein li 78p", "sperm binding protein li", "binding protein li 78p", "secretory sperm binding protein 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hydrolase", "nudix hydrolase 15", "nudix motif", "nudix motif 15", "mmth2", "type", "type motif", "nudix nucleoside", "x type", "type motif 15", "nudix nucleoside diphosphate", "moiety x type", "x type motif", "nudix nucleoside diphosphate linked", "linked moiety x type", "moiety x type motif", "x type motif 15", "probable", "probable 7", "probable 7 8", "probable 7 8 dihydro", "probable 7 8 dihydro 8", "dgtp", "probable 8", "oxo dgtp", "dgtp diphosphatase", "probable 8 oxo", "8 oxo dgtp", "oxo dgtp diphosphatase", "dgtp diphosphatase nudt15", "probable 8 oxo dgtp", "8 oxo dgtp diphosphatase", "oxo dgtp diphosphatase nudt15", "probable 8 oxo dgtp diphosphatase", "8 oxo dgtp diphosphatase nudt15", "mth2", "isoform", "nudt15 isoform", "isoform 2", "diphosphatase nudt15 isoform", "nudt15 isoform 2", "triphosphate diphosphatase nudt15 isoform", "diphosphatase nudt15 isoform 2", "nucleotide triphosphate diphosphatase nudt15 isoform", "triphosphate diphosphatase nudt15 isoform 2" ] }, { 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"complementation", "group", "3.5", "complementation group", "group 3.5", "complementation group 3.5" ] }, { "record_id": "DOID:0060998", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0060998", "0060998", "mondo:0014835", "0014835", "mim:616922", "616922" ] }, { "record_id": "DOID:0060998", "record_type": "disease", "section": "disease_name", "phraselist": [ "striatal", "degeneration", "striatal degeneration", "degeneration 2", "striatal degeneration 2", "autosomal", "dominant", "autosomal dominant", "dominant 2", "degeneration autosomal", "autosomal dominant 2", "striatal degeneration autosomal", "degeneration autosomal dominant", "striatal degeneration autosomal dominant", "degeneration autosomal dominant 2", "adsd2", "pde10a", "pde10a striatal", "pde10a striatal degeneration", "pde10a striatal degeneration autosomal", "type", "dominant type", "type 2", "autosomal dominant type", "dominant type 2", "autosomal dominant type 2", "degeneration autosomal 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maf musculoaponeurotic fibrosarcoma oncogene", "maf musculoaponeurotic fibrosarcoma oncogene homolog", "musculoaponeurotic fibrosarcoma oncogene homolog b", "family", "oncogene family", "protein b", "fibrosarcoma oncogene family", "family protein", "musculoaponeurotic fibrosarcoma oncogene family", "oncogene family protein", "family protein b", "maf musculoaponeurotic fibrosarcoma oncogene family", "fibrosarcoma oncogene family protein", "oncogene family protein b", "zipper homolog", "leucine zipper homolog", "kreisler maf related leucine", "related leucine zipper homolog", "kreisler maf related leucine zipper", "maf related leucine zipper homolog", "mafb/kreisler", "basic", "region/leucine", "mafb/kreisler basic", "basic region/leucine", "region/leucine zipper", "zipper transcription", "mafb/kreisler basic region/leucine", "basic region/leucine zipper", "region/leucine zipper transcription", "zipper transcription factor", "mafb/kreisler basic region/leucine zipper", "basic 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sterile 2 eo2", "tj", "tj pc" ] }, { "record_id": "DOID:0061031", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0061031", "0061031", "mondo:0054837", "0054837", "mim:618050", "618050" ] }, { "record_id": "DOID:0061031", "record_type": "disease", "section": "disease_name", "phraselist": [ "autosomal", "dominant", "intellectual", "developmental", "disorder", "57", "autosomal dominant", "dominant intellectual", "intellectual developmental", "developmental disorder", "disorder 57", "autosomal dominant intellectual", "dominant intellectual developmental", "intellectual developmental disorder", "developmental disorder 57", "autosomal dominant intellectual developmental", "dominant intellectual developmental disorder", "intellectual developmental disorder 57", "autosomal dominant intellectual developmental disorder", "dominant intellectual developmental disorder 57", "disability", "intellectual disability", "dominant 57", "disability autosomal", "autosomal dominant 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"danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "DOID:0061031", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0061031", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0061031", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0061031", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0061031", "record_type": "disease", "section": "proteins", 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autosomal dominant", "disorder autosomal dominant 58" ] }, { "record_id": "DOID:0061032", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0061032", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0061032", "record_type": "disease", "section": "species", "phraselist": [ "559292", "saccharomyces", "cerevisiae", "s288c", "saccharomyces cerevisiae", "cerevisiae s288c", "saccharomyces cerevisiae s288c", "yeast", "baker's", "baker's yeast", "s288c 559292", "cerevisiae s288c 559292", "saccharomyces cerevisiae s288c 559292" ] }, { "record_id": "DOID:0061032", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0061032", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0061032", "record_type": "disease", "section": "proteins", "phraselist": [ "q9equ5", "q9equ5 1", "set_mouse", "np_001191804", "glycoprotein", "set", "2610030f17rik", "5730420m11rik", "2pp2a", "i 2pp2a", "stf", "it", "stf it", "it 1", "stf it 1", "taf", "taf i", "q01105", "q01105 1", "set_human", "np_001234930", "i2pp2a", "igaad", "ipp2a2", "mrd58", "phapii", "ibeta", "taf ibeta", "p53853", "p53853 1", "vps75_yeast", "np_014153", "vps75", "n0890", "q63945", "q63945 1", "set_rat", "np_001012522", "pkn3", "setl2", "setsip", "ab1", "115", "ab1 115", "p53997", "p53997 1", "set_drome", "np_650438", "cg4299", "dmel\\cg4299", "dset" ] }, { "record_id": "DOID:0061032", "record_type": "disease", "section": "proteins", "phraselist": [ 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"phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0061203", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0061203", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0061203", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0061203", "record_type": "disease", "section": "proteins", "phraselist": [ "p50136", "p50136 1", "odba_mouse", "glycoprotein", "bckdha", "p11182", "p11182 1", "odb2_human", "np_001909", "dbt", "bcate2", "bckad", "e2", "bckad e2", 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"record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0061204", "0061204", "mondo:0009529", "0009529", "mim:246900", "246900" ] }, { "record_id": "DOID:0061204", "record_type": "disease", "section": "disease_name", "phraselist": [ "dihydrolipoamide", "dehydrogenase", "deficiency", "dihydrolipoamide dehydrogenase", "dehydrogenase deficiency", "dihydrolipoamide dehydrogenase deficiency", "pyruvate", "e3", "pyruvate dehydrogenase", "dehydrogenase e3", "e3 deficiency", "pyruvate dehydrogenase e3", "dehydrogenase e3 deficiency", "pyruvate dehydrogenase e3 deficiency", "dld", "dld deficiency", "deficient", "maple", "syrup", "urine", "disease", "e3 deficient", "deficient maple", "maple syrup", "syrup urine", "urine disease", "e3 deficient maple", "deficient maple syrup", "maple syrup urine", "syrup urine disease", "e3 deficient maple syrup", "deficient maple syrup urine", "maple syrup urine disease", "e3 deficient maple syrup urine", "deficient maple syrup urine disease", "dldd", "type", "iii", "type iii", "disease type", "urine disease type", "disease type iii", "syrup urine disease type", "urine disease type iii" ] }, { "record_id": "DOID:0061204", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0061204", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0061204", "record_type": "disease", "section": "species", "phraselist": [ "559292", "saccharomyces", "cerevisiae", "s288c", "saccharomyces cerevisiae", "cerevisiae s288c", "saccharomyces cerevisiae s288c", "yeast", "baker's", "baker's yeast", "s288c 559292", "cerevisiae s288c 559292", "saccharomyces cerevisiae s288c 559292" ] }, { "record_id": "DOID:0061204", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0061204", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0061204", "record_type": "disease", "section": "proteins", "phraselist": [ "o08749", "o08749 1", "dldh_mouse", "np_031887", "glycoprotein", "dld", "p09622", "p09622 1", "dldh_human", "np_000099", "dldd", "dldh", "e3", "gcsl", "lad", "ogdc", "ogdc e3", "phe3", "p09624", "p09624 1", "dldh_yeast", "np_116635", "lpd1", "dhlp1", "hpd1", "q6p6r2", "q6p6r2 1", "dldh_rat", "np_955417", "p20096", "p20096 1", "il4_rat", "np_958427", "il4", "il", "il 4", "il4e12" ] }, { "record_id": "DOID:0061204", "record_type": "disease", "section": "proteins", "phraselist": [ "dihydrolipoyl", "dehydrogenase", "mitochondrial", "dihydrolipoyl dehydrogenase", "dehydrogenase mitochondrial", 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"dehydrogenase complex component e3", "2 oxoglutarate dehydrogenase complex component", "oxoglutarate dehydrogenase complex component e3", "ketoglutarate", "alpha ketoglutarate", "ketoglutarate dehydrogenase", "alpha ketoglutarate dehydrogenase", "ketoglutarate dehydrogenase complex", "alpha ketoglutarate dehydrogenase complex", "ketoglutarate dehydrogenase complex subunit", "alpha ketoglutarate dehydrogenase complex subunit", "ketoglutarate dehydrogenase complex subunit e3", "dld", "dihydrolipoamide:nad", "oxidoreductase", "dihydrolipoamide:nad +", "+ oxidoreductase", "dihydrolipoamide:nad + oxidoreductase", "gdc", "gdc subunit", "subunit l", "gdc subunit l", "decarboxylase", "glycine decarboxylase", "decarboxylase complex", "glycine decarboxylase complex", "decarboxylase complex subunit", "complex subunit l", "glycine decarboxylase complex subunit", "decarboxylase complex subunit l", "glycine decarboxylase complex subunit l", "dehydrogenase component", "lipoamide dehydrogenase 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"differentiation factor", "b cell igg", "cell igg differentiation", "igg differentiation factor", "b cell igg differentiation", "cell igg differentiation factor", "b cell igg differentiation factor", "growth", "cell growth", "growth factor", "factor 1", "b cell growth", "cell growth factor", "growth factor 1", "b cell growth factor", "cell growth factor 1", "b cell growth factor 1", "stimulatory", "cell stimulatory", "stimulatory factor", "b cell stimulatory", "cell stimulatory factor", "stimulatory factor 1", "b cell stimulatory factor", "cell stimulatory factor 1", "b cell stimulatory factor 1", "bsf", "bsf 1", "il", "il 4", "lymphocyte", "lymphocyte stimulatory", "lymphocyte stimulatory factor", "lymphocyte stimulatory factor 1", "4 precursor", "interleukin 4 precursor" ] }, { "record_id": "DOID:0061205", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0061205", "0061205", "mondo:0014057", "0014057", "mim:615135", "615135" ] }, { "record_id": "DOID:0061205", "record_type": "disease", "section": "disease_name", "phraselist": [ "mild", "variant", "of", "maple", "syrup", "urine", "disease", "mild variant", "variant of", "of maple", "maple syrup", "syrup urine", "urine disease", "mild variant of", "variant of maple", "of maple syrup", "maple syrup urine", "syrup urine disease", "mild variant of maple", "variant of maple syrup", "of maple syrup urine", "maple syrup urine disease", "mild variant of maple syrup", "variant of maple syrup urine", "of maple syrup urine disease", "disease mild", "urine disease mild", "disease mild variant", "syrup urine disease mild", "urine disease mild variant", "msudmv" ] }, { "record_id": "DOID:0061205", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "DOID:0061205", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 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"record_type": "disease", "section": "proteins", "phraselist": [ "a0acd6b5q7", "a0acd6b5q7 1", "a0acd6b5q7_danre", "xp_690577", "ppm1ka", "a0a8m1p874", "a0a8m1p874 1", "a0a8m1p874_danre", "np_001314673", "ppm1kb", "im:6912645", "ppm1k", "zgc:113207", "q8bxn7", "q8bxn7 1", "ppm1k_mouse", "np_780732", "2900063a19rik", "a930026l03rik", "bckdh", "bdp", "pp2c", "kappa", "pp2c kappa", "pp2cm", "q8n3j5", "q8n3j5 1", "ppm1k_human", "np_689755", "msudmv", "pp2ckappa", "ptmp", "ug0882e07", "p25646", "p25646 1", "pdp2_yeast", "np_010003", "ptc6", "aup1", "ppp2", "ycr79c", "ycr79w", "a6k136", "a6k136 1", "ppm1k_rat", "np_001101333", "rgd1308501" ] }, { "record_id": "DOID:0061205", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "serine/threonine", "phosphatase", "protein serine/threonine", "serine/threonine phosphatase", "protein serine/threonine phosphatase", "3.1.3.16", "mn", "2+", "dependent", "1k", "isoform", "x1", "protein phosphatase", "phosphatase mn", "mn 2+", 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"section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0061222", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0061222", "record_type": "disease", "section": "proteins", "phraselist": [ "q9d2g2", "q9d2g2 1", "odo2_mouse", "np_084501", "glycoprotein", "dlst", "1600017e01rik", "4632413c10rik", "4930529o08rik", "dlts", "p36957", "p36957 1", "odo2_human", "np_001924", "kgd2", "pgl7", "ppgl7", "p19262", "p19262 1", "odo2_yeast", "np_010432", "yd8358.05c", "q01205", "q01205 1", "odo2_rat", "np_001006982", "p23565", "p23565 1", "ainx_rat", "ina", "inexa", "q9vgq1", "q9vgq1 1", "q9vgq1_drome", "np_650064", "cg5214", "dmel\\cg5214", "dmel_cg5214", "gm01350p", "alpha", "kgdhc", "alpha kgdhc" ] }, { "record_id": "DOID:0061222", "record_type": "disease", "section": "proteins", "phraselist": [ "dihydrolipoyllysine", "residue", "succinyltransferase", "component", "of", "oxoglutarate", "dehydrogenase", "complex", "mitochondrial", "dihydrolipoyllysine residue", "residue succinyltransferase", "succinyltransferase component", "component of", "of 2", "2 oxoglutarate", "oxoglutarate dehydrogenase", "dehydrogenase complex", "dihydrolipoyllysine residue succinyltransferase", "residue succinyltransferase component", "succinyltransferase component of", "component of 2", "of 2 oxoglutarate", "2 oxoglutarate dehydrogenase", "oxoglutarate dehydrogenase complex", "complex mitochondrial", "dihydrolipoyllysine residue succinyltransferase component", "residue succinyltransferase component of", "succinyltransferase component of 2", "component of 2 oxoglutarate", "of 2 oxoglutarate dehydrogenase", "2 oxoglutarate dehydrogenase complex", "dehydrogenase complex mitochondrial", "dihydrolipoyllysine 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"rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0061224", "record_type": "disease", "section": "proteins", "phraselist": [ "a0a8m2ban1", "a0a8m2ban1 1", "a0a8m2ban1_danre", "xp_005163511", "glycoprotein", "lpin2", "q99pi5", "q99pi5 1", "lpin2_mouse", "np_075020", "2610511g02rik", "q92539", "q92539 1", "lpin2_human", "np_055461", "crmo1", "kiaa0249", "mjds", "p32567", "p32567 1", "pah1_yeast", "np_013888", "pah1", "pap1", "smp2", "ym8520.14c", "d3zyb4", "d3zyb4 1", "d3zyb4_rat", "np_001101706" ] }, { "record_id": "DOID:0061224", "record_type": "disease", "section": "proteins", "phraselist": [ "phosphatidate", "phosphatase", "phosphatidate phosphatase", "3.1.3.4", "lpin2", "isoform", "x1", "phosphatase lpin2", "lpin2 isoform", "isoform x1", "phosphatidate phosphatase lpin2", "phosphatase lpin2 isoform", "lpin2 isoform x1", "phosphatidate phosphatase lpin2 isoform", "phosphatase lpin2 isoform x1", "phosphatidate phosphatase lpin2 isoform 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"q9vti0", "q9vti0 1", "q9vti0_drome", "np_648462", "dmel\\cg7560", "best:gh18008", "cg7560", "dmel_cg7560", "gh18008", "q09147", "q09147 1", "fgfr2_drome", "np_001014583", "btl", "0844/01", "btl/fgfr2", "cg32134", "cg6714", "ct20816", "d fgfr", "dfgf", "r1", "dfgf r1", "dfr2", "dfr", "dfr 2", "311", "dmhd 311", "dmel\\cg32134", "dtk2", "fr2", "fgf", "fgf r", "hd 311", "tk2", "dfgfr", "dev", "00208", "l 3", "3 00208", "l 3 00208", "j2e11", "3 j2e11", "l 3 j2e11", "q07407", "q07407 1", "fgfr1_drome", "np_524394", "htl", "cg7223", "ct22273", "ct39172", "r2", "dfgf r2", "dfr 1", "dfr1/dfgf", "dfr1/dfgf r2", "dfr1", "dpr3", "dtrk", "dtrk fr1", "38", "dmhd 38", "dmel\\cg7223", "dtk1", "ems2", "fgf r2", "fgfr2", "hd 38", "htl/fgfr1", "tk1", "i100", "i150", "i79", "j372", "q9vdd3", "q9vdd3 1", "snmp1_drome", "np_001262803", "snmp1", "cg7000", "dmel\\cg7000", "dmel_cg7000", "snmp", "e1ji63", "e1ji63 1", "snmp2_drome", "np_001036593", "snmp2", "148358_at", "cg16832", "cg7422", "dmel\\cg7422", "q9vm77", "q9vm77 1", "q9vm77_drome", "np_001285692", "sens", "sens 2", "cg11243", "cg17373", "cg31632", "d.m", "d.m sens", "d.m sens 2", "dmel\\cg31632", "dmel_cg31632", "sens2", "p51530", "p51530 1", "dna2_human", "np_001073918", "dna2", "dna2l", "kiaa0083", "rts4", "hdna2", "o75976", "o75976 1", "cbpd_human", "np_001186704", "cpd", "gp180", "q5vtd9", "q5vtd9 1", "gfi1b_human", "np_001128503", "bdplt17", "znf163b", "p13726", "p13726 1", "tf_human", "np_001171567", "tfa", "p16671", "p16671 1", "cd36_human", "np_000063", "bdplt10", "chds7", "gp3b", "gp4", "pasiv", "p11362", "p11362 1", "fgfr1_human", "np_001167534", "bfgfr", "cd331", "cek", "eccl", "fgfbr", "flt2", "hbgfr", "hh2", "hrtfds", "kal2", "sam", "n sam", "ogd", "p42898", "p42898 1", "mthr_human", "np_001317287", "o60674", "o60674 1", "jak2_human", "np_001309123", "jtk10", "q03112", "q03112 7", "mecom_human", "np_001098547", "aml1", "aml1 evi", "aml1 evi 1", "kmt8e", "rusat2", "p07203", "p07203 1", "gpx1_human", "np_000572", "gpxd", "gshpx1", "p41212", "p41212 1", "etv6_human", "np_001978", "tel/abl", "thc5", "p22681", "p22681 1", "cbl_human", "np_005179", "cbl2", "fra11b", "nsll", "rnf55" ] }, { "record_id": "DOID:0070004", "record_type": "disease", "section": "proteins", "phraselist": [ "glutathione", "peroxidase", "glutathione peroxidase", "1a", "peroxidase 1a", "glutathione peroxidase 1a", "peroxidase 1", "glutathione peroxidase 1", "1b", "peroxidase 1b", "glutathione peroxidase 1b", "tyrosine", "protein", "kinase", "tyrosine protein", "protein kinase", "tyrosine protein kinase", "2.7.10.2", "jak2a", "isoform", "x1", "kinase jak2a", "jak2a isoform", "isoform x1", "protein kinase jak2a", "kinase jak2a isoform", "jak2a isoform x1", "tyrosine protein kinase jak2a", "protein kinase jak2a isoform", "kinase jak2a isoform x1", "tyrosine protein kinase jak2a isoform", "protein kinase jak2a isoform x1", "methylenetetrahydrofolate", "reductase", "nadph", "methylenetetrahydrofolate reductase", "reductase nadph", "methylenetetrahydrofolate reductase nadph", "1.5.1.53", "10", "5 10", "10 methylenetetrahydrofolate", "5 10 methylenetetrahydrofolate", "10 methylenetetrahydrofolate reductase", "5 10 methylenetetrahydrofolate reductase", "10 methylenetetrahydrofolate reductase nadph", "fibroblast", "growth", "factor", "receptor", "fibroblast growth", "growth factor", "factor receptor", "fibroblast growth factor", "growth factor receptor", "fibroblast growth factor receptor", "2.7.10.1", "precursor", "receptor 1b", "1b precursor", "factor receptor 1b", "receptor 1b precursor", "growth factor receptor 1b", "factor receptor 1b precursor", "fibroblast growth factor receptor 1b", "growth factor receptor 1b precursor", "receptor 1", "1 a", "factor receptor 1", "receptor 1 a", "growth factor receptor 1", "factor receptor 1 a", "fibroblast growth factor receptor 1", "growth factor receptor 1 a", "basic", "basic fibroblast", "basic fibroblast growth", "basic fibroblast growth factor", "basic fibroblast growth factor receptor", "fgfr", "fgfr 1", "fgfr 1 a", "fgf", "iiib", "fgf receptor", "receptor 1a", "1a isoform", "isoform iiib", "fgf receptor 1a", "receptor 1a isoform", "1a isoform iiib", "fgf receptor 1a isoform", "receptor 1a isoform iiib", "fgf receptor 1a isoform iiib", "iiic", "isoform iiic", "1a isoform iiic", "receptor 1a isoform iiic", "fgf receptor 1a isoform iiic", "bfgf", "bfgf r", "r 1", "bfgf r 1", "r 1 a", "bfgf r 1 a", "a isoform", "isoform 2", "2 precursor", "1 a isoform", "a isoform 2", "isoform 2 precursor", "receptor 1 a isoform", "1 a isoform 2", "a isoform 2 precursor", "factor receptor 1 a isoform", "receptor 1 a isoform 2", "1 a isoform 2 precursor", "tissue", "tissue factor", "coagulation", "iii", "coagulation factor", "factor iii", "coagulation factor iii", "tfb", "factor iiib", "iiib precursor", "coagulation factor iiib", "factor iiib precursor", "coagulation factor iiib precursor", "zinc", "finger", "gfi", "zinc finger", "finger protein", "protein gfi", "gfi 1b", "1b isoform", "zinc finger protein", "finger protein gfi", "protein gfi 1b", "gfi 1b isoform", "1b isoform x1", "zinc finger protein gfi", "finger protein gfi 1b", "protein gfi 1b isoform", "gfi 1b isoform x1", "zinc finger protein gfi 1b", "finger protein gfi 1b isoform", "protein gfi 1b isoform x1", "e3", "ubiquitin", "ligase", "cbl", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase cbl", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase cbl", "e3 ubiquitin protein ligase", "ubiquitin protein ligase cbl", "e3 ubiquitin protein ligase cbl", "2.3.2.27", "casitas", "lineage", "lymphoma", "proto", "oncogene", "casitas b", "b lineage", "lineage lymphoma", "lymphoma proto", "proto oncogene", "casitas b lineage", "b lineage lymphoma", "lineage lymphoma proto", "lymphoma proto oncogene", "casitas b lineage lymphoma", "b lineage lymphoma proto", "lineage lymphoma proto oncogene", "casitas b lineage lymphoma proto", "b lineage lymphoma proto oncogene", "oncogene c", "c cbl", "proto oncogene c", "oncogene c cbl", "proto oncogene c cbl", "ring", "type", "transferase", "ring type", "type e3", "ubiquitin transferase", "transferase cbl", "ring type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase cbl", "ring type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase cbl", "ring type e3 ubiquitin transferase", "type e3 ubiquitin transferase cbl", "signal", "transduction", "signal transduction", "transduction protein", "protein cbl", "signal transduction protein", "transduction protein cbl", "signal transduction protein cbl", "1.11.1.12", "1.11.1.9", "cellular", "cellular glutathione", "cellular glutathione peroxidase", "gpx", "gpx 1", "gshpx", "gshpx 1", "phospholipid", "hydroperoxide", "gpx1", "phospholipid hydroperoxide", "hydroperoxide glutathione", "peroxidase gpx1", "phospholipid hydroperoxide glutathione", "hydroperoxide glutathione peroxidase", "glutathione peroxidase gpx1", "phospholipid hydroperoxide glutathione peroxidase", "hydroperoxide glutathione peroxidase gpx1", "phospholipid hydroperoxide glutathione peroxidase gpx1", "selenium", "dependent", "selenium dependent", "dependent glutathione", "selenium dependent glutathione", "dependent glutathione peroxidase", "selenium dependent glutathione peroxidase", "dependent glutathione peroxidase 1", "selenium dependent glutathione peroxidase 1", "1 isoform", "peroxidase 1 isoform", "1 isoform 2", "glutathione peroxidase 1 isoform", "peroxidase 1 isoform 2", "glutathione peroxidase 1 isoform 2", "transcription", "etv6", "transcription factor", "factor etv6", "transcription factor etv6", "ets", "translocation", "variant", "ets translocation", "translocation variant", "variant 6", "ets translocation variant", "translocation variant 6", "ets translocation variant 6", "related", "tel1", "ets related", "related protein", "protein tel1", "ets related protein", "related protein tel1", "ets related protein tel1", "tel", "gene", "ets variant", "variant gene", "gene 6", "tel oncogene", "ets variant gene", "variant gene 6", "6 tel", "ets variant gene 6", "gene 6 tel", "6 tel oncogene", "variant gene 6 tel", "gene 6 tel oncogene", "etv6 isoform", "isoform 1", "factor etv6 isoform", "etv6 isoform 1", "transcription factor etv6 isoform", "factor etv6 isoform 1", "transcription factor etv6 isoform 1", "leukemia", "translocation ets", "ets leukemia", "translocation ets leukemia", "histone", "lysine", "methyltransferase", "mecom", "histone lysine", "lysine n", "n methyltransferase", "methyltransferase mecom", "histone lysine n", "lysine n methyltransferase", "n methyltransferase mecom", "histone lysine n methyltransferase", "lysine n methyltransferase mecom", "histone lysine n methyltransferase mecom", "2.1.1.367", "evi", "evi 1", "ecotropic", "virus", "integration", "site", "ecotropic virus", "virus integration", "integration site", "site 1", "1 protein", "ecotropic virus integration", "virus integration site", "integration site 1", "site 1 protein", "ecotropic virus integration site", "virus integration site 1", "integration site 1 protein", "ecotropic virus integration site 1", "virus integration site 1 protein", "mds1", "and", "evi1", "complex", "locus", "mds1 and", "and evi1", "evi1 complex", "complex locus", "locus protein", "protein evi1", "mds1 and evi1", "and evi1 complex", "evi1 complex locus", "complex locus protein", "locus protein evi1", "mds1 and evi1 complex", "and evi1 complex locus", "evi1 complex locus protein", "complex locus protein evi1", "mds1 and evi1 complex locus", "and evi1 complex locus protein", "evi1 complex locus protein evi1", "protein mds1", "locus protein mds1", "complex locus protein mds1", "evi1 complex locus protein mds1", "myelodysplasia", "syndrome", "homolog", "myelodysplasia syndrome", "syndrome 1", "protein homolog", "myelodysplasia syndrome 1", "syndrome 1 protein", "1 protein homolog", "myelodysplasia syndrome 1 protein", "syndrome 1 protein homolog", "myelodysplasia syndrome 1 protein homolog", "viral", "ecotropic viral", "viral integration", "ecotropic viral integration", "viral integration site", "ecotropic viral integration site", "viral integration site 1", "ecotropic viral integration site 1", "mecom isoform", "methyltransferase mecom isoform", "mecom isoform 2", "n methyltransferase mecom isoform", "methyltransferase mecom isoform 2", "lysine n methyltransferase mecom isoform", "n methyltransferase mecom isoform 2", "jak2", "kinase jak2", "protein kinase jak2", "tyrosine protein kinase jak2", "jak", "jak 2", "janus", "janus kinase", "kinase 2", "janus kinase 2", "isoform b", "nadph isoform", "nadph isoform b", "reductase nadph isoform", "mfr", "fgr", "c fgr", "oncogene c fgr", "proto oncogene c fgr", "receptor 1 isoform", "factor receptor 1 isoform", "receptor 1 isoform 2", "1 isoform 2 precursor", "growth factor receptor 1 isoform", "factor receptor 1 isoform 2", "receptor 1 isoform 2 precursor", "platelet", "glycoprotein", "platelet glycoprotein", "glycoprotein 4", "platelet glycoprotein 4", "cd36", "antigen", "cd36 antigen", "gpiiib", "gpiv", "glycoprotein iiib", "pas", "iv", "pas iv", "pas 4", "glycoprotein iv", "platelet glycoprotein iv", "fatty", "acid", "translocase", "fatty acid", "acid translocase", "fatty acid translocase", "tf", "factor precursor", "tissue factor precursor", "independent", "factor independent", "independent protein", "protein 1b", "growth factor independent", "factor independent protein", "independent protein 1b", "growth factor independent protein", "factor independent protein 1b", "growth factor independent protein 1b", "1b isoform 1", "gfi 1b isoform 1", "protein gfi 1b isoform 1", "reductase 1", "methylenetetrahydrofolate reductase 1", "1.5.1.20", "nad", "met12", "nad p", "p h", "reductase nad", "nad p h", "h met12", "methylenetetrahydrofolate reductase nad", "reductase nad p", "p h met12", "methylenetetrahydrofolate reductase nad p", "reductase nad p h", "nad p h met12", "reductase 2", "methylenetetrahydrofolate reductase 2", "yml45", "met13", "h met13", "p h met13", "nad p h met13", "cas", "br", "murine", "retroviral", "transforming", "sequence", "cas br", "br m", "ecotropic retroviral", "retroviral transforming", "transforming sequence", "cas br m", "m murine", "murine ecotropic", "ecotropic retroviral transforming", "retroviral transforming sequence", "br m murine", "murine ecotropic retroviral", "ecotropic retroviral transforming sequence", "cas br m murine", "m murine ecotropic", "murine ecotropic retroviral transforming", "cbl proto", "cbl proto oncogene", "oncogene e3", "proto oncogene e3", "oncogene e3 ubiquitin", "cbl proto oncogene e3", "proto oncogene e3 ubiquitin", "oncogene e3 ubiquitin protein", "a protein", "protein tyrosine", "tyrosine kinase", "2 a", "a protein tyrosine", "protein tyrosine kinase", "kinase 2 a", "2 a protein", "a protein tyrosine kinase", "janus kinase 2 a", "kinase 2 a protein", "2 a protein tyrosine", "x2", "isoform x2", "nadph isoform x2", "fgf receptor 1", "1 precursor", "receptor 1 precursor", "factor receptor 1 precursor", "growth factor receptor 1 precursor", "adipocyte", "membrane", "adipocyte membrane", "membrane protein", "adipocyte membrane protein", "transport", "acid transport", "transport protein", "fatty acid transport", "acid transport protein", "fatty acid transport protein", "transcriptional", "repressor", "independent 1b", "1b transcriptional", "transcriptional repressor", "factor independent 1b", "independent 1b transcriptional", "1b transcriptional repressor", "growth factor independent 1b", "factor independent 1b transcriptional", "independent 1b transcriptional repressor", "growth factor independent 1b transcriptional", "factor independent 1b transcriptional repressor", "retinoblastoma", "like", "retinoblastoma like", "like protein", "protein 2", "retinoblastoma like protein", "like protein 2", "retinoblastoma like protein 2", "130", "kda", "associated", "130 kda", "kda retinoblastoma", "retinoblastoma associated", "associated protein", "130 kda retinoblastoma", "kda retinoblastoma associated", "retinoblastoma associated protein", "130 kda retinoblastoma associated", "kda retinoblastoma associated protein", "130 kda retinoblastoma associated protein", "p130", "ppar", "alpha", "interacting", "128", "ppar alpha", "alpha interacting", "interacting complex", "complex protein", "protein 128", "ppar alpha interacting", "alpha interacting complex", "interacting complex protein", "complex protein 128", "ppar alpha interacting complex", "alpha interacting complex protein", "interacting complex protein 128", "ppar alpha interacting complex protein", "alpha interacting complex protein 128", "prb2", "pric128", "rbr", "rbr 2", "retinoblastoma related", "retinoblastoma related protein", "related protein 2", "retinoblastoma related protein 2", "like 2", "retinoblastoma like 2", "urea", "transporter", "urea transporter", "transporter 1", "urea transporter 1", "solute", "carrier", "family", "14", "member", "solute carrier", "carrier family", "family 14", "14 member", "member 1", "solute carrier family", "carrier family 14", "family 14 member", "14 member 1", "solute carrier family 14", "carrier family 14 member", "family 14 member 1", "solute carrier family 14 member", "carrier family 14 member 1", "ut", "ut b", "transporter b", "urea transporter b", "erythrocyte", "transporter erythrocyte", "urea transporter erythrocyte", "kidd", "blood", "group", "kidd blood", "blood group", "14 urea", "1 kidd", "kidd blood group", "family 14 urea", "14 urea transporter", "transporter member", "member 1 kidd", "1 kidd blood", "carrier family 14 urea", "family 14 urea transporter", "urea transporter member", "transporter member 1", "member 1 kidd blood", "1 kidd blood group", "cg7037", "pb", "cg7037 pb", "ortholog", "oncogene ortholog", "proto oncogene ortholog", "cbl proto oncogene ortholog", "oncogene isoform", "proto oncogene isoform", "oncogene isoform b", "cbl proto oncogene isoform", "proto oncogene isoform b", "cbl pb", "cbllong", "d cbllong", "cblshort", "d cblshort", "cable", "dna", "binding", "pokkuri", "ets dna", "dna binding", "binding protein", "protein pokkuri", "ets dna binding", "dna binding protein", "binding protein pokkuri", "ets dna binding protein", "dna binding protein pokkuri", "ets dna binding protein pokkuri", "cg3166", "pc", "cg3166 pc", "anterior", "open", "protein anterior", "anterior open", "protein anterior open", "yan", "protein yan", "sgp", "cluster", "fusion", "defects", "sgp cluster", "cluster fusion", "fusion defects", "defects 6", "sgp cluster fusion", "cluster fusion defects", "fusion defects 6", "sgp cluster fusion defects", "cluster fusion defects 6", "sgp cluster fusion defects 6", "isoform c", "open isoform", "anterior open isoform", "open isoform c", "anterior open isoform c", "aop", "aop pc", "hamlet", "factor hamlet", "transcription factor hamlet", "cg31753", "cg31753 pb", "ham", "ham pb", "hamlet isoform", "hamlet isoform b", "hopscotch", "kinase hopscotch", "protein kinase hopscotch", "tyrosine protein kinase hopscotch", "cg1594", "pa", "cg1594 pa", "hop", "jak kinase", "janus family", "family kinase", "janus family kinase", "hop pa", "hopskotch", "18", "locus 18", "tumorous", "catalytic", "domain", "containing", "reductase like", "like catalytic", "catalytic domain", "domain containing", "containing protein", "methylenetetrahydrofolate reductase like", "reductase like catalytic", "like catalytic domain", "catalytic domain containing", "domain containing protein", "methylenetetrahydrofolate reductase like catalytic", "reductase like catalytic domain", "like catalytic domain containing", "catalytic domain containing protein", "methylenetetrahydrofolate reductase like catalytic domain", "reductase like catalytic domain containing", "like catalytic domain containing protein", "cg7560", "cg7560 pa", "uncharacterized", "uncharacterized protein", "receptor homolog", "homolog 2", "factor receptor homolog", "receptor homolog 2", "growth factor receptor homolog", "factor receptor homolog 2", "fibroblast growth factor receptor homolog", "growth factor receptor homolog 2", "cg32134", "cg32134 pb", "breathless", "protein breathless", "tyrosine kinase 2", "hd", "311", "kinase receptor", "receptor hd", "hd 311", "tyrosine kinase receptor", "kinase receptor hd", "receptor hd 311", "tyrosine kinase receptor hd", "kinase receptor hd 311", "tyrosine kinase receptor hd 311", "breathless isoform", "breathless isoform b", "btl", "btl pb", "dfgf", "r1", "dfgf r1", "dtk2", "devenir", "fibrobast", "fibrobast growth", "fibrobast growth factor", "fibrobast growth factor receptor", "lethal", "j2e11", "lethal 3", "3 j2e11", "lethal 3 j2e11", "no", "terminal", "cell", "clones", "no terminal", "terminal cell", "cell clones", "clones l", "no terminal cell", "terminal cell clones", "cell clones l", "no terminal cell clones", "terminal cell clones l", "no terminal cell clones l", "homolog 1", "receptor homolog 1", "factor receptor homolog 1", "growth factor receptor homolog 1", "cg7223", "cg7223 pb", "dmhd", "38", "dmhd 38", "heartless", "protein heartless", "kinase 1", "tyrosine kinase 1", "dtk1", "heartless isoform", "heartless isoform b", "htl", "htl pb", "sensory", "neuron", "sensory neuron", "neuron membrane", "protein 1", "sensory neuron membrane", "neuron membrane protein", "membrane protein 1", "sensory neuron membrane protein", "neuron membrane protein 1", "sensory neuron membrane protein 1", "cg7000", "cg7000 pb", "snmp1dmel", "snmp1", "snmp1 pb", "protein 1 isoform", "1 isoform b", "membrane protein 1 isoform", "protein 1 isoform b", "membrane protein 2", "neuron membrane protein 2", "sensory neuron membrane protein 2", "cg7422", "cg7422 pb", "snmp2dmel", "snmp2", "snmp2 pb", "2 isoform", "protein 2 isoform", "2 isoform b", "membrane protein 2 isoform", "protein 2 isoform b", "cg31632", "cg31632 pb", "senseless", "senseless 2", "isoform a", "senseless 2 isoform", "2 isoform a", "senseless 2 isoform a", "senseless 2 isoform b", "sens", "sens 2", "2 pb", "sens 2 pb", "replication", "atp", "helicase/nuclease", "dna2", "dna replication", "replication atp", "atp dependent", "dependent helicase/nuclease", "helicase/nuclease dna2", "dna replication atp", "replication atp dependent", "atp dependent helicase/nuclease", "dependent helicase/nuclease dna2", "dna replication atp dependent", "replication atp dependent helicase/nuclease", "atp dependent helicase/nuclease dna2", "dna replication atp dependent helicase/nuclease", "replication atp dependent helicase/nuclease dna2", "5'", "3'", "helicase", "dna 5'", "5' 3'", "3' helicase", "helicase dna2", "dna 5' 3'", "5' 3' helicase", "3' helicase dna2", "dna 5' 3' helicase", "5' 3' helicase dna2", "dna 5' 3' helicase dna2", "dependent helicase", "helicase like", "like homolog", "atp dependent helicase", "dependent helicase like", "helicase like homolog", "replication atp dependent helicase", "atp dependent helicase like", "dependent helicase like homolog", "dna replication atp dependent helicase", "replication atp dependent helicase like", "atp dependent helicase like homolog", "replication helicase", "helicase 2", "2 homolog", "dna replication helicase", "replication helicase 2", "helicase 2 homolog", "dna replication helicase 2", "replication helicase 2 homolog", "dna replication helicase 2 homolog", "dna2 dna", "2 like", "dna2 dna replication", "helicase 2 like", "dna2 dna replication helicase", "replication helicase 2 like", "dna2 dna replication helicase 2", "dna replication helicase 2 like", "dna2 like", "like helicase", "dna2 like helicase", "hdna2", "carboxypeptidase", "carboxypeptidase d", "3.4.17.22", "metallocarboxypeptidase", "metallocarboxypeptidase d", "d isoform", "carboxypeptidase d isoform", "d isoform 2", "carboxypeptidase d isoform 2", "gp180", "potential", "regulator", "of", "cdkn1a", "translocated", "in", 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"glu ala", "ala asp/his", "box polypeptide", "polypeptide 15", "dead/h asp", "asp glu ala", "glu ala asp/his", "asp/his box", "box polypeptide 15", "dead/h asp glu", "asp glu ala asp/his", "ala asp/his box", "asp/his box polypeptide", "dead/h asp glu ala", "glu ala asp/his box", "ala asp/his box polypeptide", "asp/his box polypeptide 15", "dead/h box", "box 15", "dead/h box 15", "deah", "his", "ala his", "box helicase", "helicase 15", "deah asp", "glu ala his", "his box", "box helicase 15", "deah asp glu", "asp glu ala his", "ala his box", "his box helicase", "deah asp glu ala", "glu ala his box", "ala his box helicase", "his box helicase 15", "his box polypeptide", "ala his box polypeptide", "his box polypeptide 15", "protein", "deah box", "box protein", "protein 15", "deah box protein", "box protein 15", "deah box protein 15", "helicase 2", "rna helicase 2", "splicing", "factor", "prp43", "splicing factor", "factor prp43", "splicing factor prp43", "hprp43", "putative", "pre", "mrna", "putative pre", "pre mrna", "mrna splicing", "factor atp", "putative pre mrna", "pre mrna splicing", "mrna splicing factor", "splicing factor atp", "factor atp dependent", "putative pre mrna splicing", "pre mrna splicing factor", "mrna splicing factor atp", "splicing factor atp dependent", "factor atp dependent rna", "putative pre mrna splicing factor", "pre mrna splicing factor atp", "mrna splicing factor atp dependent", "splicing factor atp dependent rna", "factor atp dependent rna helicase" ] }, { "record_id": "DOID:0070037", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0070037", "0070037", "mondo:0013578", "0013578", "mim:614104", "614104" ] }, { "record_id": "DOID:0070037", "record_type": "disease", "section": "disease_name", "phraselist": [ "autosomal", "dominant", "intellectual", "developmental", "disorder", "autosomal dominant", "dominant intellectual", "intellectual developmental", "developmental disorder", "disorder 7", "autosomal dominant 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autosomal dominant", "disability autosomal dominant type", "retardation autosomal", "mental retardation autosomal", "retardation autosomal dominant", "mental retardation autosomal dominant", "retardation autosomal dominant type", "dominant 7", "autosomal dominant 7", "disability autosomal dominant 7", "retardation autosomal dominant 7", "disorder autosomal", "developmental disorder autosomal", "disorder autosomal dominant", "intellectual developmental disorder autosomal", "developmental disorder autosomal dominant", "disorder autosomal dominant 7" ] }, { "record_id": "DOID:0070037", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "DOID:0070037", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0070037", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070037", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0070037", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0070037", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0070037", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070037", "record_type": "disease", "section": "proteins", "phraselist": [ "a0a8m2b3p5", "a0a8m2b3p5 1", "a0a8m2b3p5_danre", "np_001334760", "dyrk1ab", "fi12h09", "wu:fi12h09", "wu:fi26g04", "q61214", "q61214 1", "dyr1a_mouse", "np_001106860", "dyrk1a", "2310043o08rik", "d16ertd272e", "d16ertd493e", "dyrk", "gm10783", "mnbh", "mp86", "mmb", "q13627", "q13627 1", "dyr1a_human", "np_001334650", "glycoprotein", "dyrk1", "hp86", "mnb", "mrd7", "q63470", "q63470 1", "dyr1a_rat", "np_036923", "psk47", "p70562", "p70562 1", "bha15_rat", "np_036995", "bhlha15", "bhlhb8", "mist1", "bhlh", "p49657", "p49657 1", "mnb_drome", "np_001014750", "cg42273", "cg7826", "cg7835", "dm1", "dmdyrk1a", "dmel\\cg42273", "dmel_cg42273", "me", "iv", "me iv", "minibrain", "min", "p53634", "p53634 1", "catc_human", "np_001107645", "ctsc", "cppi", "dpp", "dpp i", "dpp1", "dppi", "hms", "jpd", "jp", "pals", "pdon1", "pls" ] }, { "record_id": "DOID:0070037", "record_type": "disease", "section": "proteins", "phraselist": [ "dual", "specificity", "kinase", "dual specificity", "specificity kinase", "dual specificity kinase", "2.7.12.1", "tyrosine", "phosphorylation", "regulated", "1a", "specificity tyrosine", "phosphorylation regulated", "regulated kinase", "kinase 1a", "dual specificity tyrosine", "tyrosine y", "y phosphorylation", "phosphorylation regulated kinase", "regulated kinase 1a", "1a b", "specificity tyrosine y", "y phosphorylation regulated", "phosphorylation regulated kinase 1a", "kinase 1a b", "dual specificity tyrosine y", "tyrosine y phosphorylation", "y phosphorylation regulated kinase", "regulated kinase 1a b", "1ab", "tyrosine regulated", "kinase 1ab", "specificity tyrosine regulated", "tyrosine regulated kinase", "regulated kinase 1ab", "dual specificity tyrosine regulated", "specificity tyrosine regulated kinase", "tyrosine regulated kinase 1ab", "dual specificity tyrosine regulated kinase", "specificity tyrosine regulated kinase 1ab", "tyrosine phosphorylation", 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[ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070038", "record_type": "disease", "section": "proteins", "phraselist": [ "q6zm67", "q6zm67 1", "q6zm67_danre", "np_001137603", "grin1b", "nmdar1.2", "si:rp71", "1o1.1", "si:rp71 1o1.1", "a0ac58ia45", "a0ac58ia45 1", "a0ac58ia45_danre", "xp_073791110", "glycoprotein", "grin1a", "nmdar1.1", "zgc:152678", "p35438", "p35438 1", "nmdz1_mouse", "np_001171127", "grin1", "glun1", "glurdelta1", "glurzeta1", "glurz1", "m100174", "nmd", "r1", "nmd r1", "nmdar1", "nr1", "nmdar", "rgsc174", "q05586", "q05586 1", "nmdz1_human", "np_000823", "dee101", "mrd8", "ndhmsd", "ndhmsr", "nmda1", "hnr1", "p35439", "p35439 1", "nmdz1_rat", "np_001257531", "q24418", "q24418 1", "nmda1_drome", "np_730940", "cg2902", "dmnmdar1", "dnmdar", "dnmdar i", "dmelnmdar1", "dmel\\cg2902", "drnr1", "nmda", "nmda r1", "nri", "dnr1", "dsnr1", "nmr", "q96fc9", "q96fc9 1", "ddx11_human", "np_001244073", "ddx11", "chl1", "chlr1", "krg2", "wabs" ] }, { "record_id": "DOID:0070038", "record_type": "disease", "section": "proteins", "phraselist": [ "glutamate", "receptor", "glutamate receptor", "ionotropic", "nmda", "1b", "precursor", "receptor ionotropic", "nmda 1b", "1b precursor", "glutamate receptor ionotropic", "ionotropic nmda", "nmda 1b precursor", "receptor ionotropic nmda", "ionotropic nmda 1b", "glutamate receptor ionotropic nmda", "receptor ionotropic nmda 1b", "ionotropic nmda 1b precursor", "1a", "isoform", "x1", "nmda 1a", "1a isoform", "isoform x1", "nmda 1a isoform", "1a isoform x1", "ionotropic nmda 1a", "nmda 1a isoform x1", "receptor ionotropic nmda 1a", "ionotropic nmda 1a isoform", "nmda 1", "ionotropic nmda 1", "receptor ionotropic nmda 1", "glun1", "subunit", "zeta", "receptor subunit", "subunit zeta", "zeta 1", "glutamate nmda", "nmda receptor", "receptor subunit zeta", "subunit zeta 1", "nmda receptor subunit", "receptor subunit zeta 1", "glutamate nmda receptor", 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] }, { "record_id": "DOID:0070221", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070221", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070221", "record_type": "disease", "section": "proteins", "phraselist": [ "e7fbe1", "e7fbe1 1", "e7fbe1_danre", "np_001315437", "sema7a", "fc47g07", "wu:fc47g07", "zgc:174881", "q66i08", "q66i08 1", "osta_danre", "np_001004546", "glycoprotein", "slc51a", "ost", "alpha", "ost alpha", "fb57f06", "osta", "wu:fb57f06", "zgc:92111", "a0a8m2bib8", "a0a8m2bib8 1", "a0a8m2bib8_danre", "xp_005171014", "usp53b", "a0a8m9p3e4", "a0a8m9p3e4 1", "a0a8m9p3e4_danre", "xp_021324562", "myo5b", "cb1077", "si:ch73", "112l6.5", "si:ch73 112l6.5", "q58en8", "q58en8 1", "vp33b_danre", "np_001014370", "vps33b", 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"control", "66", "cell division", "division control", "control protein", "protein 66", "cell division control", "division control protein", "control protein 66", "cell division control protein", "division control protein 66", "cell division control protein 66", "myo2", "v unconventional", "myosin myo2", "class v unconventional", "v unconventional myosin", "unconventional myosin myo2", "class v unconventional myosin", "v unconventional myosin myo2", "class v unconventional myosin myo2", "myosin v", "v myo2", "myosin v myo2", "heavy", "chain", "type v", "v myosin", "myosin heavy", "heavy chain", "chain myo2", "type v myosin", "v myosin heavy", "myosin heavy chain", "heavy chain myo2", "type v myosin heavy", "v myosin heavy chain", "myosin heavy chain myo2", "type v myosin heavy chain", "v myosin heavy chain myo2", "33", "protein 33", "associated protein 33", "sorting associated protein 33", "protein sorting associated protein 33", "slp1", "protein slp1", "morphogenesis", "vacuolar morphogenesis", "morphogenesis protein", "protein 5", "vacuolar morphogenesis protein", "morphogenesis protein 5", "vacuolar morphogenesis protein 5", "tethering", "atp", "binding", "vps33", "tethering complex", "complex atp", "atp binding", "binding subunit", "subunit vps33", "tethering complex atp", "complex atp binding", "atp binding subunit", "binding subunit vps33", "tethering complex atp binding", "complex atp binding subunit", "atp binding subunit vps33", "tethering complex atp binding subunit", "complex atp binding subunit vps33", "kif12 isoform x1", "protein kif12 isoform x1", "like protein kif12 isoform x1", "51 member", "member a", "family 51 member", "51 member a", "carrier family 51 member", "family 51 member a", "solute carrier family 51 member", "carrier family 51 member a", "immunoglobulin", "ig", "and", "gpi", "membrane", "anchor", "sema domain", "immunoglobulin domain", "and gpi", "gpi membrane", "membrane anchor", "domain immunoglobulin", "domain ig", "and gpi membrane", "gpi membrane anchor", "sema domain immunoglobulin", "domain immunoglobulin domain", "immunoglobulin domain ig", "ig and", "and gpi membrane anchor", "anchor semaphorin", "sema domain immunoglobulin domain", "ig and gpi", "membrane anchor semaphorin", "7a gpi", "semaphorin 7a gpi", "7a gpi membrane", "semaphorin 7a gpi membrane", "7a gpi membrane anchor", "myr", "chain myr", "myr 6", "heavy chain myr", "chain myr 6", "myosin heavy chain myr", "heavy chain myr 6", "myosin heavy chain myr 6", "of", "the", "dilute", "myosin of", "of the", "the dilute", "dilute myosin", "v family", "myosin of the", "of the dilute", "the dilute myosin", "dilute myosin v", "myosin v family", "myosin of the dilute", "of the dilute myosin", "the dilute myosin v", "dilute myosin v family", "myosin of the dilute myosin", "of the dilute myosin v", "the dilute myosin v family", "5b", "myosin 5b", "vps33b", "r vps33b", "homolog", "sorting 33", "33 homolog", "homolog b", "protein sorting 33", "sorting 33 homolog", "33 homolog b", "vacuolar protein sorting 33", "protein sorting 33 homolog", "sorting 33 homolog b", "vacuolar protein sorting 33 homolog", "protein sorting 33 homolog b", "sorting homolog", "homolog r", "protein sorting homolog", "sorting homolog r", "homolog r vps33b", "vacuolar protein sorting homolog", "protein sorting homolog r", "sorting homolog r vps33b", "vacuolar protein sorting homolog r", "protein sorting homolog r vps33b", "fyve type", "type containing", "containing 19", "finger fyve type", "fyve type containing", "type containing 19", "zinc finger fyve type", "finger fyve type containing", "fyve type containing 19", "zinc finger fyve type containing", "finger fyve type containing 19", "ubiquitinyl", "ubiquitinyl hydrolase", "hydrolase 1", "ubiquitinyl hydrolase 1", "member 4", "8b member 4", "type 8b member 4", "10b", "atpase phospholipid", "transporting 10b", "atpase phospholipid transporting", "phospholipid transporting 10b", "10b putative", "atpase phospholipid transporting 10b", "transporting 10b putative", "phospholipid transporting 10b putative", "type 10b", "v type 10b", "class v type 10b", "cg43323", "pe", "cg43323 pe", "54d", "protein 54d", "like protein 54d", "kinesin like protein 54d", "at", "protein at", "at 54d", "isoform e", "like protein at", "protein at 54d", "54d isoform", "kinesin like protein at", "like protein at 54d", "at 54d isoform", "54d isoform e", "kinesin like protein at 54d", "protein at 54d isoform", "at 54d isoform e", "kinesin4a", "klp54d", "klp54d pe", "alpha like", "transporter alpha like", "alpha like protein", "solute transporter alpha like", "transporter alpha like protein", "organic solute transporter alpha like", "solute transporter alpha like protein", "cg6836", "pa", "cg6836 pa", "alpha homolog", "subunit alpha homolog", "51 subunit alpha homolog", "family 51 subunit alpha homolog", "uncharacterized", "uncharacterized protein", "2a", "semaphorin 2a", "cg4700", "cg4700 pa", "ii", "d semaphorin", "semaphorin ii", "d semaphorin ii", "sema ii", "sema 2a", "sema2a", "sema2a pa", "isoform a", "2a isoform", "semaphorin 2a isoform", "2a isoform a", "semaphorin 2a isoform a", "semiphorin", "cg5127", "cg5127 pa", "vps33b pa", "5.6.1.8", "cg2146", "pc", "cg2146 pc", "dilute class", "class unconventional", "isoform c", "dilute class unconventional", "class unconventional myosin", "myosin isoform", "dilute class unconventional myosin", "unconventional myosin isoform", "myosin isoform c", "class unconventional myosin isoform", "unconventional myosin isoform c", "myosin5", "myosinv", "didum", "didum pc", "myosin 5", "shorty", "cg33298", "pb", "cg33298 pb", "isoform b", "protein isoform", "uncharacterized protein isoform", "protein isoform b", "uncharacterized protein isoform b", "atpase class v type 10b", "atp10b", "subunit atp10b", "alpha subunit atp10b", "complex alpha subunit atp10b", "flippase complex alpha subunit atp10b", "atpase vb isoform", "vb isoform 1", "transporting atpase vb isoform", "atpase vb isoform 1", "phospholipid transporting atpase vb isoform", "transporting atpase vb isoform 1", "atpase type", "atpase type iv", "iv phospholipid", "transporting p", "type iv phospholipid", "iv phospholipid transporting", "phospholipid transporting p", "transporting p type", "atpase type iv phospholipid", "type iv phospholipid transporting", "phospholipid transporting p type", "10c", "type 10c", "v type 10c", "class v type 10c", "translocase va", "aminophospholipid translocase va", "53 isoform 1", "hydrolase 53 isoform 1", "terminal hydrolase 53 isoform 1", "proteinase", "specific proteinase", "proteinase 53", "ubiquitin specific proteinase", "specific proteinase 53", "ubiquitin specific proteinase 53", "mll", "partner", "mll partner", "partner containing", "containing fyve", "mll partner containing", "partner containing fyve", "containing fyve domain", "mll partner containing fyve", "partner containing fyve domain", "mll partner containing fyve domain", "domain containing 19", "fyve domain containing 19", "hvps33b", "33 like", "protein b", "sorting 33 like", "33 like protein", "like protein b", "protein sorting 33 like", "sorting 33 like protein", "33 like protein b", "vacuolar protein sorting 33 like", "protein sorting 33 like protein", "sorting 33 like protein b", "isoform 3", "33b isoform 3", "protein 33b isoform 3", "associated protein 33b isoform 3", "myo5b", "variant", "myo5b variant", "variant protein", "myo5b variant protein", "cdw108", "jmh", "blood", "group", "antigen", "jmh blood", "blood group", "group antigen", "jmh blood group", "blood group antigen", "jmh blood group antigen", "john", "milton", "hagen", "john milton", "milton hagen", "hagen blood", "group h", "h sema", "john milton hagen", "milton hagen blood", "hagen blood group", "blood group h", "group h sema", "h sema k1", "john milton hagen blood", "milton hagen blood group", "hagen blood group h", "blood group h sema", "group h sema k1", "john milton hagen blood group", "milton hagen blood group h", "hagen blood group h sema", "blood group h sema k1", "hargen", "human", "ag", "milton hargen", "hargen human", "human blood", "group ag", "john milton hargen", "milton hargen human", "hargen human blood", "human blood group", "blood group ag", "john milton hargen human", "milton hargen human blood", "hargen human blood group", "human blood group ag", "john milton hargen human blood", "milton hargen human blood group", "hargen human blood group ag", "7a jmh", "7a jmh blood", "semaphorin 7a jmh", "7a jmh blood group", "anchor 7a", "membrane anchor 7a", "gpi membrane anchor 7a", "7a john", "semaphorin 7a john", "7a john milton", "semaphorin 7a john milton", "7a john milton hagen", "anchor john", "membrane anchor john", "anchor john milton", "gpi membrane anchor john", "membrane anchor john milton", "anchor john milton hagen", "7a isoform 2", "semaphorin 7a isoform 2", "transporter alpha subunit", "solute transporter alpha subunit", "kif12 isoform 1", "protein kif12 isoform 1", "like protein kif12 isoform 1" ] }, { "record_id": "DOID:0070222", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0070222", "0070222", "mondo:0011156", "0011156", "mim:601847", "601847" ] }, { "record_id": "DOID:0070222", "record_type": "disease", "section": "disease_name", "phraselist": [ "progressive", "familial", "intrahepatic", "cholestasis", "progressive familial", "familial intrahepatic", "intrahepatic cholestasis", "cholestasis 2", "progressive familial intrahepatic", "familial intrahepatic cholestasis", "intrahepatic cholestasis 2", "progressive familial intrahepatic cholestasis", "familial intrahepatic cholestasis 2", "progressive familial intrahepatic cholestasis 2", "bsep", "deficiency", "bsep deficiency", "pfic2", "type", "cholestasis type", "type 2", "intrahepatic cholestasis type", "cholestasis type 2", "familial intrahepatic cholestasis type", "intrahepatic cholestasis type 2", "progressive familial intrahepatic cholestasis type", "familial intrahepatic cholestasis type 2", "abcb11", "abcb11 progressive", "abcb11 progressive familial", "abcb11 progressive familial intrahepatic", "abcb11 progressive familial intrahepatic cholestasis", "intrahepatic 2", "cholestasis progressive", "familial intrahepatic 2", "cholestasis progressive familial", "progressive familial intrahepatic 2", "cholestasis progressive familial intrahepatic", "intrahepatic type", "familial intrahepatic type", "intrahepatic type 2", "progressive familial intrahepatic type", "familial intrahepatic type 2", "caused", "by", "mutation", "in", "cholestasis caused", "caused by", "by mutation", "mutation in", "in abcb11", "intrahepatic cholestasis caused", "cholestasis caused by", "caused by mutation", "by mutation in", "mutation in abcb11", "familial intrahepatic cholestasis caused", "intrahepatic cholestasis caused by", "cholestasis caused by mutation", "caused by mutation in", "by mutation in abcb11", "progressive familial intrahepatic cholestasis caused", "familial intrahepatic cholestasis caused by", "intrahepatic cholestasis caused by mutation", "cholestasis caused by mutation in", "caused by mutation in abcb11", "severe", "severe abcb11", "abcb11 deficiency", "severe abcb11 deficiency" ] }, { "record_id": "DOID:0070222", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "DOID:0070222", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "DOID:0070222", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0070222", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070222", "record_type": "disease", "section": "species", "phraselist": [ "559292", "saccharomyces", "cerevisiae", "s288c", "saccharomyces cerevisiae", "cerevisiae s288c", "saccharomyces cerevisiae s288c", "yeast", "baker's", "baker's yeast", "s288c 559292", "cerevisiae s288c 559292", "saccharomyces cerevisiae s288c 559292" ] }, { "record_id": "DOID:0070222", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0070222", "record_type": "disease", "section": "proteins", "phraselist": [ "a0a8m1rnn7", "a0a8m1rnn7 1", "a0a8m1rnn7_danre", "xp_003199513", "abcb11b", "f1qsx6", "f1qsx6 1", "f1qsx6_danre", "xp_009303249", "abcb11a", "q9qy30", "q9qy30 1", "abcbb_mouse", "np_066302", "glycoprotein", "abcb11", "abc16", "bsep", "lith1", "pfic2", "pgy4", "spgp", "o95342", "o95342 1", "abcbb_human", "np_003733", "bric2", "pfic", "pfic 2", "p12866", "p12866 1", "ste6_yeast", "np_012713", "ste6", "o70127", "o70127 1", "abcbb_rat", "np_113948" ] }, { "record_id": "DOID:0070222", "record_type": "disease", "section": "proteins", "phraselist": [ "bile", "salt", "export", "pump", "bile salt", "salt export", "export pump", "bile salt export", "salt export pump", "bile salt export pump", "isoform", "x1", "pump isoform", "isoform x1", "export pump isoform", "pump isoform x1", "salt export pump isoform", "export pump isoform x1", "bile salt export pump isoform", "salt export pump isoform x1", "7.6.2.", "atp", "binding", "cassette", "sub", "family", "member", "11", "atp binding", "binding cassette", "cassette sub", "sub family", "family b", "b member", "member 11", "atp binding cassette", "binding cassette sub", "cassette sub family", "sub family b", "family b member", "b member 11", "atp binding cassette sub", "binding cassette sub family", "cassette sub family b", "sub family b member", "family b member 11", "atp binding cassette sub family", "binding cassette sub family b", "cassette sub family b member", "sub family b member 11", "mdr/tap", "b mdr/tap", "family b mdr/tap", "mdr/tap member", "sub family b mdr/tap", "mdr/tap member 11", "sister", "of", "glycoprotein", "sister of", "of p", "p glycoprotein", "sister of p", "of p glycoprotein", "sister of p glycoprotein", "abc", "16", "subfamily", "abc member", "member 16", "mdr/tap subfamily", "abc member 16", "16 mdr/tap", "member 16 mdr/tap", "16 mdr/tap subfamily", "abc member 16 mdr/tap", "member 16 mdr/tap subfamily", "progressive", "familial", "intrahepatic", "cholestasis", "progressive familial", "familial intrahepatic", "intrahepatic cholestasis", "cholestasis 2", "progressive familial intrahepatic", "familial intrahepatic cholestasis", "intrahepatic cholestasis 2", "progressive familial intrahepatic cholestasis", "familial intrahepatic cholestasis 2", "progressive familial intrahepatic cholestasis 2", "sister p", "sister p glycoprotein", "alpha", "factor", "transporting", "atpase", "alpha factor", "factor transporting", "transporting atpase", "alpha factor transporting", "factor transporting atpase", "alpha factor transporting atpase", "7.4.2.7", "transporter", "ste6", "cassette a", "a factor", "factor transporter", "transporter ste6", "binding cassette a", "cassette a factor", "a factor transporter", "factor transporter ste6", "atp binding cassette a", "binding cassette a factor", "cassette a factor transporter", "a factor transporter ste6", "atp binding cassette a factor", "binding cassette a factor transporter", "cassette a factor transporter ste6", "mating", "secretion", "protein", "mating factor", "factor a", "a secretion", "secretion protein", "protein ste6", "mating factor a", "factor a secretion", "a secretion protein", "secretion protein ste6", "mating factor a secretion", "factor a secretion protein", "a secretion protein ste6", "mating factor a secretion protein", "factor a secretion protein ste6", "multiple", "drug", "resistance", "homolog", "multiple drug", "drug resistance", "resistance protein", "protein homolog", "multiple drug resistance", "drug resistance protein", "resistance protein homolog", "multiple drug resistance protein", "drug resistance protein homolog", "multiple drug resistance protein homolog", "subfamily b", "cassette subfamily", "binding cassette subfamily", "cassette subfamily b", "subfamily b mdr/tap", "atp binding cassette subfamily", "binding cassette subfamily b" ] }, { "record_id": "DOID:0070223", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0070223", "0070223", "mondo:0011214", "0011214", "mim:602347", "602347" ] }, { "record_id": "DOID:0070223", "record_type": "disease", "section": "disease_name", "phraselist": [ "progressive", "familial", "intrahepatic", "cholestasis", "progressive familial", "familial intrahepatic", "intrahepatic cholestasis", "cholestasis 3", "progressive familial intrahepatic", "familial intrahepatic cholestasis", "intrahepatic cholestasis 3", "progressive familial intrahepatic cholestasis", "familial intrahepatic cholestasis 3", "progressive familial intrahepatic cholestasis 3", "mdr3", "deficiency", "mdr3 deficiency", "pfic3", "with", "elevated", "serum", "gama", "glutamyltransferase", "cholestasis with", "with elevated", "elevated serum", "serum gama", "gama glutamyltransferase", "intrahepatic cholestasis with", "cholestasis with elevated", "with elevated serum", "elevated serum gama", "serum gama glutamyltransferase", "familial intrahepatic cholestasis with", "intrahepatic cholestasis with elevated", "cholestasis with elevated serum", "with elevated serum gama", "elevated serum gama glutamyltransferase", "progressive familial intrahepatic cholestasis with", "familial intrahepatic cholestasis with elevated", "intrahepatic cholestasis with elevated serum", "cholestasis with elevated serum gama", "with elevated serum gama glutamyltransferase", "type", "cholestasis type", "type 3", "intrahepatic cholestasis type", "cholestasis type 3", "familial intrahepatic cholestasis type", "intrahepatic cholestasis type 3", "progressive familial intrahepatic cholestasis type", "familial intrahepatic cholestasis type 3", "abcb4", "abcb4 progressive", "abcb4 progressive familial", "abcb4 progressive familial intrahepatic", "abcb4 progressive familial intrahepatic cholestasis", "intrahepatic 3", "cholestasis progressive", "familial intrahepatic 3", "cholestasis progressive familial", "progressive familial intrahepatic 3", "cholestasis progressive familial intrahepatic", "intrahepatic type", "familial intrahepatic type", "intrahepatic type 3", "progressive familial intrahepatic type", "familial intrahepatic type 3", "caused", "by", "mutation", "in", "cholestasis caused", "caused by", "by mutation", "mutation in", "in abcb4", "intrahepatic cholestasis caused", "cholestasis caused by", "caused by mutation", "by mutation in", "mutation in abcb4", "familial intrahepatic cholestasis caused", "intrahepatic cholestasis caused by", "cholestasis caused by mutation", "caused by mutation in", "by mutation in abcb4", "progressive familial intrahepatic cholestasis caused", "familial intrahepatic cholestasis caused by", "intrahepatic cholestasis caused by mutation", "cholestasis caused by mutation in", "caused by mutation in abcb4", "gamma", "serum gamma", "gamma glutamyltransferase", "elevated serum gamma", "serum gamma glutamyltransferase", "with elevated serum gamma", "elevated serum gamma glutamyltransferase", "cholestasis with elevated serum gamma", "with elevated serum gamma glutamyltransferase" ] }, { "record_id": "DOID:0070223", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0070223", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070223", "record_type": "disease", "section": "species", "phraselist": [ "559292", "saccharomyces", "cerevisiae", "s288c", "saccharomyces cerevisiae", "cerevisiae s288c", "saccharomyces cerevisiae s288c", "yeast", "baker's", "baker's yeast", "s288c 559292", "cerevisiae s288c 559292", "saccharomyces cerevisiae s288c 559292" ] }, { "record_id": "DOID:0070223", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0070223", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0070223", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0070223", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0070223", "record_type": "disease", "section": "proteins", "phraselist": [ "p21440", "p21440 1", "mdr3_mouse", "np_032856", "glycoprotein", "abcb4", "mdr2", "pgy", "pgy 2", "pgy2", "mdr", "mdr 2", "p21439", "p21439 1", "mdr3_human", "np_000434", "abc21", "gbd1", "icp3", "mdr2/3", "mdr3", "pfic", "pfic 3", "pgy3", "p12866", "p12866 1", "ste6_yeast", "np_012713", "ste6", "p43245", "p43245 1", "mdr1_rat", "abcb1a", "abcb1b", "abcb1", "mdr1b", "mdr1", "pgy1", "q00748", "q00748 1", "mdr65_drome", "np_476831", "mdr65", "cg10181", "dmmdr65", "dmel\\cg10181", "mdr65a", "p glycoprotein", "gp", "p gp", "q00449", "q00449 1", "mdr49_drome", "np_001163132", "mdr49", "cg3879", "dm5", "dmmdr49", "dmel\\cg3879", "dmel_cg3879", "mdr5", "mes5", "mrd49", "q9vrw2", "q9vrw2 1", "q9vrw2_drome", "np_648040", "amt", "dmel\\cg10226", "cg10226", "dmcg10226", "dmel_cg10226" ] }, { "record_id": "DOID:0070223", "record_type": "disease", "section": "proteins", "phraselist": [ "phosphatidylcholine", "translocator", "abcb4", "phosphatidylcholine translocator", "translocator abcb4", "phosphatidylcholine translocator abcb4", "7.6.2.1", "atp", "binding", "cassette", "sub", "family", "member", "atp binding", "binding cassette", "cassette sub", "sub family", "family b", "b member", "member 4", "atp binding cassette", "binding cassette sub", "cassette sub family", "sub family b", "family b member", "b member 4", "atp binding cassette sub", "binding cassette sub family", "cassette sub family b", "sub family b member", "family b member 4", "atp binding cassette sub family", "binding cassette sub family b", "cassette sub family b 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12", "12 n", "beta 12 n", "12 n acetylglucosaminyltransferase", "beta 12 n acetylglucosaminyltransferase", "12 n acetylglucosaminyltransferase ii", "beta 12 n acetylglucosaminyltransferase ii" ] }, { "record_id": "DOID:0070254", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0070254", "0070254", "mondo:0011629", "0011629", "mim:606056", "606056" ] }, { "record_id": "DOID:0070254", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "disorder", "of", "glycosylation", "type", "iib", "congenital disorder", "disorder of", "of glycosylation", "glycosylation type", "type iib", "congenital disorder of", "disorder of glycosylation", "of glycosylation type", "glycosylation type iib", "congenital disorder of glycosylation", "disorder of glycosylation type", "of glycosylation type iib", "congenital disorder of glycosylation type", "disorder of glycosylation type iib", "cdg", "cdg iib", "cdg2b", "cdgiib", "glucosidase", "deficiency", 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3e", "family 3e member", "3e member 1", "short chain dehydrogenase/reductase family 3e", "dehydrogenase/reductase family 3e member", "family 3e member 1" ] }, { "record_id": "DOID:0070256", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0070256", "0070256", "mondo:0011772", "0011772", "mim:607091", "607091" ] }, { "record_id": "DOID:0070256", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "disorder", "of", "glycosylation", "type", "iid", "congenital disorder", "disorder of", "of glycosylation", "glycosylation type", "type iid", "congenital disorder of", "disorder of glycosylation", "of glycosylation type", "glycosylation type iid", "congenital disorder of glycosylation", "disorder of glycosylation type", "of glycosylation type iid", "congenital disorder of glycosylation type", "disorder of glycosylation type iid", "cdg", "cdg iid", "cdg2d", "cdgiid", "b4galt1", "b4galt1 congenital", "b4galt1 congenital disorder", "b4galt1 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"hydroxyurea checkpoint", "checkpoint abnormal", "abnormal protein", "spindle and hydroxyurea", "and hydroxyurea checkpoint", "hydroxyurea checkpoint abnormal", "checkpoint abnormal protein", "spindle and hydroxyurea checkpoint", "and hydroxyurea checkpoint abnormal", "hydroxyurea checkpoint abnormal protein", "spindle and hydroxyurea checkpoint abnormal", "and hydroxyurea checkpoint abnormal protein", "asp", "asp abnormal", "asp abnormal spindle", "isoform 3", "microcephalin isoform 3", "cancer", "susceptibility", "candidate", "gene", "cancer susceptibility", "susceptibility candidate", "candidate gene", "gene 5", "5 protein", "cancer susceptibility candidate", "susceptibility candidate gene", "candidate gene 5", "gene 5 protein", "5 protein homolog", "cancer susceptibility candidate gene", "susceptibility candidate gene 5", "candidate gene 5 protein", "gene 5 protein homolog", "cancer susceptibility candidate gene 5", "susceptibility candidate gene 5 protein", "candidate gene 5 protein homolog", "scaffold", "kinetochore scaffold", "scaffold 1", "kinetochore scaffold 1", "null", "kinetochore null", "null protein", "kinetochore null protein", "null protein 1", "kinetochore null protein 1", "casc5", "protein casc5", "candidate 5", "susceptibility candidate 5", "cancer susceptibility candidate 5", "knl1 isoform", "subunit knl1 isoform", "knl1 isoform 1", "complex subunit knl1 isoform", "subunit knl1 isoform 1", "knl1 complex subunit knl1 isoform", "complex subunit knl1 isoform 1", "dynein 1 intermediate chain 2", "dynein intermediate", "cytoplasmic dynein intermediate", "dynein intermediate chain", "cytoplasmic dynein intermediate chain", "dynein intermediate chain 2", "cytoplasmic dynein intermediate chain 2", "dh", "ic", "dh ic", "ic 2", "dh ic 2", "cytosolic", "2 cytosolic", "chain 2 cytosolic", "intermediate chain 2 cytosolic", "2 isoform", "isoform 5", "chain 2 isoform", "2 isoform 5", "intermediate chain 2 isoform", "chain 2 isoform 5", "1 intermediate chain 2 isoform", "intermediate chain 2 isoform 5", "cytoplasmic intermediate", "cytoplasmic intermediate chain", "dynein cytoplasmic intermediate", "cytoplasmic intermediate chain 2", "factor", "for", "microtubules", "assembly factor", "factor for", "for spindle", "spindle microtubules", "assembly factor for", "factor for spindle", "for spindle microtubules", "assembly factor for spindle", "factor for spindle microtubules", "assembly factor for spindle microtubules", "microtubule", "spindle microtubule", "microtubule assembly", "abnormal spindle microtubule", "spindle microtubule assembly", "abnormal spindle microtubule assembly", "spindle homolog", "homolog microcephaly", "abnormal spindle homolog", "homolog microcephaly associated", "spindle homolog microcephaly", "domain", "repeat domain", "domain 62", "62 like", "like 1", "wd repeat domain", "repeat domain 62", "domain 62 like", "62 like 1", "wd repeat domain 62", "repeat domain 62 like", "domain 62 like 1", "wd repeat domain 62 like", "repeat domain 62 like 1", "protein 62 like", "containing protein 62 like", "repeat containing protein 62 like", "small", "conductance", "calcium", "activated", "potassium", "channel", "small conductance", "conductance calcium", "calcium activated", "activated potassium", "potassium channel", "channel protein", "protein 3", "small conductance calcium", "conductance calcium activated", "calcium activated potassium", "activated potassium channel", "potassium channel protein", "channel protein 3", "small conductance calcium activated", "conductance calcium activated potassium", "calcium activated potassium channel", "activated potassium channel protein", "potassium channel protein 3", "small conductance calcium activated potassium", "conductance calcium activated potassium channel", "calcium activated potassium channel protein", "activated potassium channel protein 3", "kca2.3", "sk3", "skca", "skca 3", "skca3", "cg10061", "pa", "cg10061 pa", "dsas", "dsas 4", "sas", "sas 4", "4 pa", "sas 4 pa", "spindle assembly", "assembly abnormal", "abnormal 4", "spindle assembly abnormal", "assembly abnormal 4", "spindle assembly abnormal 4", "drosophila", "drosophila sas", "drosophila sas 4", "orthologue", "4 orthologue", "abnormal 4 orthologue", "assembly abnormal 4 orthologue", "spindle assembly abnormal 4 orthologue", "ortholog", "4 ortholog", "abnormal 4 ortholog", "assembly abnormal 4 ortholog", "spindle assembly abnormal 4 ortholog", "protein abnormal", "protein abnormal spindle", "cg6875", "cg6875 pa", "spindle protein", "abnormal spindle protein", "spindles", "abnormal spindles", "asp pa", "cg42572", "pd", "cg42572 pd", "mcph1", "mcph1 pd", "isoform d", "microcephalin isoform d", "absent", "without", "leave", "absent without", "without leave", "absent without leave", "cg7337", "pg", "cg7337 pg", "isoform g", "domain 62 isoform", "62 isoform g", "repeat domain 62 isoform", "domain 62 isoform g", "wdr62", "wdr62 pg", "cg18000", "pn", "cg18000 pn", "chain cytosolic", "intermediate chain cytosolic", "dynein intermediate chain cytosolic", "short", "wing", "protein short", "short wing", "protein short wing", "polypeptide", "intermediate polypeptide", "polypeptide chain", "dynein intermediate polypeptide", "intermediate polypeptide chain", "cytoplasmic dynein intermediate polypeptide", "dynein intermediate polypeptide chain", "cytoplasmic dynein intermediate polypeptide chain", "dynein ic", "isoform n", "wing isoform", "short wing isoform", "wing isoform n", "short wing isoform n", "sw", "sw pn", "swallow", "cg32823", "pf", "cg32823 pf", "sdic3", "sdic3 pf", "sdic:cg32823", "sperm", "specific", "sperm specific", "specific dynein", "chain 3", "isoform e", "sperm specific dynein", "specific dynein intermediate", "intermediate chain 3", "3 isoform", "sperm specific dynein intermediate", "specific dynein intermediate chain", "dynein intermediate chain 3", "chain 3 isoform", "3 isoform e", "sperm specific dynein intermediate chain", "specific dynein intermediate chain 3", "intermediate chain 3 isoform", "chain 3 isoform e", "isoform f", "3 isoform f", "chain 3 isoform f", "3 isoform g", "chain 3 isoform g", "chain a", "intermediate chain a", "dynein intermediate chain a", "specific dynein intermediate chain a", "chain b", "intermediate chain b", "dynein intermediate chain b", "specific dynein intermediate chain b", "cg33497", "pc", "cg33497 pc", "sdic2", "sdic2 pc", "sdic:cg33497", "isoform a", "2 isoform a", "specific dynein intermediate chain 2", "chain 2 isoform a", "isoform c", "2 isoform c", "chain 2 isoform c", "cg9580", "cg9580 pa", "sdic1", "sdic1 pa", "sdic:cg9580", "chain 1", "intermediate chain 1", "1 isoform", "dynein intermediate chain 1", "chain 1 isoform", "1 isoform a", "specific dynein intermediate chain 1", "intermediate chain 1 isoform", "chain 1 isoform a", "2 isoform 1", "chain 2 isoform 1", "intermediate chain 2 isoform 1", "polypeptide 2", "intermediate polypeptide 2", "cytoplasmic intermediate polypeptide", "cytoplasmic intermediate polypeptide 2", "testis", "tissue", "li", "66n", "testis tissue", "tissue sperm", "sperm binding", "protein li", "li 66n", "testis tissue sperm", "tissue sperm binding", "sperm binding protein", "binding protein li", "protein li 66n", "testis tissue sperm binding", "tissue sperm binding protein", "sperm binding protein li", "binding protein li 66n", "testis tissue sperm binding protein", "tissue sperm binding protein li", "sperm binding protein li 66n", "62 isoform 1", "protein 62 isoform 1", "containing protein 62 isoform 1", "primary", "autosomal", "recessive", "primary autosomal", "autosomal recessive", "recessive 2", "microcephaly primary", "primary autosomal recessive", "autosomal recessive 2", "microcephaly primary autosomal", "primary autosomal recessive 2", "microcephaly primary autosomal recessive", "af15q14", "all1", "fused", "from", "chromosome", "15q14", "all1 fused", "fused gene", "gene from", "from chromosome", "chromosome 15q14", "15q14 protein", "all1 fused gene", "fused gene from", "gene from chromosome", "from chromosome 15q14", "chromosome 15q14 protein", "all1 fused gene from", "fused gene from chromosome", "gene from chromosome 15q14", "from chromosome 15q14 protein", "all1 fused gene from chromosome", "fused gene from chromosome 15q14", "gene from chromosome 15q14 protein", "blinkin", "bub", "linking", "bub linking", "linking kinetochore", "kinetochore protein", "bub linking kinetochore", "linking kinetochore protein", "bub linking kinetochore protein", "ct29", "cancer/testis", "antigen", "29", "cancer/testis antigen", "antigen 29", "cancer/testis antigen 29", "d40/af15q14", "protein d40/af15q14", "blinkin bub", "blinkin bub linking", "blinkin bub linking kinetochore", "null 1", "1 homolog", "kinetochore null 1", "null 1 homolog", "kinetochore null 1 homolog", "recessive 4", "autosomal recessive 4", "primary autosomal recessive 4", "knl1 isoform 2", "subunit knl1 isoform 2", "complex subunit knl1 isoform 2", "phosphatase", "regulatory", "55", "protein phosphatase", "phosphatase 1", "regulatory subunit", "subunit 55", "protein phosphatase 1", "1 regulatory", "regulatory subunit 55", "phosphatase 1 regulatory", "1 regulatory subunit", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 55", "brct", "inhibitor", "of", "tert", "expression", "brct repeat", "repeat inhibitor", "inhibitor of", "of tert", "tert expression", "expression 1", "brct repeat inhibitor", "repeat inhibitor of", "inhibitor of tert", "of tert expression", "tert expression 1", "brct repeat inhibitor of", "repeat inhibitor of tert", "inhibitor of tert expression", "of tert expression 1", "brct repeat inhibitor of tert", "repeat inhibitor of tert expression", "inhibitor of tert expression 1", "spindle protein homolog", "abnormal spindle protein homolog", "asp homolog", "protein isoform 2", "associated protein isoform 2", "microcephaly associated protein isoform 2", "lag", "lag 3", "3 associated", "lag 3 associated", "3 associated protein", "lag 3 associated protein", "lyst", "interacting", "lyst interacting", "interacting protein", "lyst interacting protein", "interacting protein 1", "lyst interacting protein 1", "lip1", "protein lip1", "interacting protein lip1", "lyst interacting protein lip1", "lip7", "protein lip7", "interacting protein lip7", "lyst interacting protein lip7" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0070297", "0070297", "mondo:0009617", "0009617", "mim:251200", "251200" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "disease_name", "phraselist": [ "primary", "microcephaly", "primary microcephaly", "true", "true microcephaly", "autosomal", "recessive", "microcephaly 1", "autosomal recessive", "1 primary", "primary autosomal", "microcephaly 1 primary", "primary autosomal recessive", "1 primary autosomal", "mcph1", "mcph1 autosomal", "recessive primary", "mcph1 autosomal recessive", "autosomal recessive primary", "recessive primary microcephaly", "mcph1 autosomal recessive primary", "autosomal recessive primary microcephaly", "mcph1 autosomal recessive primary microcephaly", "caused", "by", "mutation", "in", "microcephaly caused", "caused by", "by mutation", "mutation in", "in mcph1", "primary microcephaly caused", "microcephaly caused by", "caused by mutation", "by mutation in", "mutation in mcph1", "recessive primary microcephaly caused", "primary microcephaly caused by", "microcephaly caused by mutation", "caused by mutation in", "by mutation in mcph1", "autosomal recessive primary microcephaly caused", "recessive primary microcephaly caused by", "primary microcephaly caused by mutation", "microcephaly caused by mutation in", "caused by mutation in mcph1", "premature", "chromosome", "condensation", "with", "and", "mental", "retardation", "premature chromosome", "chromosome condensation", "condensation with", "with microcephaly", "microcephaly and", "and mental", "mental retardation", "premature chromosome condensation", "chromosome condensation with", "condensation with microcephaly", "with microcephaly and", "microcephaly and mental", "and mental retardation", "premature chromosome condensation with", "chromosome condensation with microcephaly", "condensation with microcephaly and", "with microcephaly and mental", "microcephaly and mental retardation", "premature chromosome condensation with microcephaly", "chromosome condensation with microcephaly and", "condensation with microcephaly and mental", "with microcephaly and mental retardation" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "559292", "saccharomyces", "cerevisiae", "s288c", "saccharomyces cerevisiae", "cerevisiae s288c", "saccharomyces cerevisiae s288c", "yeast", "baker's", "baker's yeast", "s288c 559292", "cerevisiae s288c 559292", "saccharomyces cerevisiae s288c 559292" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "proteins", "phraselist": [ "a0a8m3ay08", "a0a8m3ay08 1", "a0a8m3ay08_danre", "xp_001921879", "knl1", "p49025", "p49025 1", "ctro_mouse", "xp_006530214", "glycoprotein", "cit", "c030025p15rik", "crik", "sk", "crik sk", "cit k", "q9d1c9", "q9d1c9 1", "rrp7a_mouse", "np_083377", "rrp7a", "1110014j01rik", "kheg1", "q66jq7", "q66jq7 1", "knl1_mouse", "np_083893", "2310043d08rik", "5730505k17rik", "casc5", "q8nem0", "q8nem0 1", "mcph1_human", "np_001166046", "mcph1", "brit1", "mct", "p25368", "p25368 1", "rrp7_yeast", "np_009899", "rrp7", "ycl184", "ycl31c", "e9psl7", "e9psl7 1", "ctro_rat", "np_001025082", "d4ae65", "d4ae65 1", "d4ae65_rat", "np_001124040", "cgi", "96", "cgi 96", "rgd1311547", "d3z896", "d3z896 1", "d3z896_rat", "m9pi41", "m9pi41 1", "m9pi41_drome", "np_001261768", "sti", "cg10522", "citron", "citron k", "dck", "dmel\\cg10522", "dmel_cg10522", "anon", "wo0118547.388", "anon wo0118547.388", "ck", "7m", "62", "l 3", "3 7m", "7m 62", "l 3 7m", "3 7m 62", "l 3 7m 62", "7m62", "3 7m62", "l 3 7m62", "sg21", "3 sg21", "l 3 sg21", "sti/citron", "q9vmj1", "q9vmj1 1", "q9vmj1_drome", "np_608981", "cg9107", "dmel\\cg9107", "dmel_cg9107", "q9y3a4", "q9y3a4 1", "rrp7a_human", "np_056518", "bk126b4.3", "mcph28", "q9nsq0", "q9nsq0 1", "rrp7b_human", "rrp7bp", "rrp7b", "q8ng31", "q8ng31 1", "knl1_human", "np_653091", "af15q14", "ct29", "d40", "kiaa1570", "mcph4", "ppp1r55", "spc7", "hknl", "hknl 1", "hspc105", "o14578", "o14578 1", "ctro_human", "np_001193928", "citk", "kiaa0949", "mcph17", "stk21" ] }, { "record_id": "DOID:0070297", "record_type": "disease", "section": "proteins", "phraselist": [ "outer", "kinetochore", "knl1", "complex", "subunit", "outer kinetochore", "kinetochore knl1", "knl1 complex", "complex subunit", "subunit knl1", "outer kinetochore knl1", "kinetochore knl1 complex", "knl1 complex subunit", "complex subunit knl1", "outer kinetochore knl1 complex", "kinetochore knl1 complex subunit", "knl1 complex subunit knl1", "outer kinetochore knl1 complex subunit", "kinetochore knl1 complex subunit knl1", "citron", "rho", "interacting", 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protein", "processing protein 7", "protein 7 homolog", "7 homolog a", "ribosomal rna processing protein", "rna processing protein 7", "processing protein 7 homolog", "protein 7 homolog a", "ribosomal rna processing protein 7", "rna processing protein 7 homolog", "processing protein 7 homolog a", "gastric", "cancer", "antigen", "zg14", "gastric cancer", "cancer antigen", "antigen zg14", "zg14 homolog", "gastric cancer antigen", "cancer antigen zg14", "antigen zg14 homolog", "gastric cancer antigen zg14", "cancer antigen zg14 homolog", "gastric cancer antigen zg14 homolog", "kidney", "highly", "expressed", "kidney highly", "highly expressed", "expressed protein", "protein 1", "kidney highly expressed", "highly expressed protein", "expressed protein 1", "kidney highly expressed protein", "highly expressed protein 1", "kidney highly expressed protein 1", "a isoform", "isoform 1", "homolog a isoform", "a isoform 1", "7 homolog a isoform", "homolog a isoform 1", "protein 7 homolog a isoform", "7 homolog a isoform 1", "susceptibility", "candidate", "gene", "cancer susceptibility", "susceptibility candidate", "candidate gene", "gene 5", "5 protein", "protein homolog", "cancer susceptibility candidate", "susceptibility candidate gene", "candidate gene 5", "gene 5 protein", "5 protein homolog", "cancer susceptibility candidate gene", "susceptibility candidate gene 5", "candidate gene 5 protein", "gene 5 protein homolog", "cancer susceptibility candidate gene 5", "susceptibility candidate gene 5 protein", "candidate gene 5 protein homolog", "scaffold", "kinetochore scaffold", "scaffold 1", "kinetochore scaffold 1", "null", "kinetochore null", "null protein", "kinetochore null protein", "null protein 1", "kinetochore null protein 1", "casc5", "protein casc5", "candidate 5", "susceptibility candidate 5", "cancer susceptibility candidate 5", "knl1 isoform", "subunit knl1 isoform", "knl1 isoform 1", "complex subunit knl1 isoform", "subunit knl1 isoform 1", "knl1 complex 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"density protein citron", "postsynaptic density protein citron", "non", "specific", "non specific", "specific serine/threonine", "non specific serine/threonine", "specific serine/threonine protein", "non specific serine/threonine protein", "specific serine/threonine protein kinase", "non specific serine/threonine protein kinase", "cg10522", "pb", "cg10522 pb", "drosophila", "drosophila citron", "drosophila citron kinase", "sti", "sti pb", "sticky", "isoform b", "sticky isoform", "sticky isoform b", "cg9107", "cg9107 pb", "uncharacterized", "uncharacterized protein", "protein isoform", "uncharacterized protein isoform", "protein isoform b", "uncharacterized protein isoform b", "cta", "126b4.5", "cta 126b4.5", "putative", "putative ribosomal", "homolog b", "putative ribosomal rna", "7 homolog b", "putative ribosomal rna processing", "protein 7 homolog b", "putative ribosomal rna processing protein", "processing protein 7 homolog b", "like", "putative gastric", "zg14 like", "like 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"activation", "tyrosine 3", "3 monooxygenase/tryptophan", "monooxygenase/tryptophan 5", "5 monooxygenase", "monooxygenase activation", "activation protein", "zeta polypeptide", "tyrosine 3 monooxygenase/tryptophan", "3 monooxygenase/tryptophan 5", "monooxygenase/tryptophan 5 monooxygenase", "5 monooxygenase activation", "monooxygenase activation protein", "protein zeta", "tyrosine 3 monooxygenase/tryptophan 5", "3 monooxygenase/tryptophan 5 monooxygenase", "monooxygenase/tryptophan 5 monooxygenase activation", "5 monooxygenase activation protein", "activation protein zeta", "protein zeta polypeptide", "tyrosine 3 monooxygenase/tryptophan 5 monooxygenase", "3 monooxygenase/tryptophan 5 monooxygenase activation", "monooxygenase/tryptophan 5 monooxygenase activation protein", "monooxygenase activation protein zeta", "activation protein zeta polypeptide", "dopaminergic", "dopaminergic receptor", "receptor d3", "dopaminergic receptor d3", "like", "y like", "neuropeptide y like", "pro neuropeptide y like", "type 2", "receptor type 2", "y receptor type 2", "neuropeptide y receptor type 2", "y2", "npy y2", "y2 receptor", "npy y2 receptor", "y y2", "neuropeptide y y2", "y y2 receptor", "neuropeptide y y2 receptor", "y/peptide", "yy", "neuropeptide y/peptide", "y/peptide yy", "yy y2", "neuropeptide y/peptide yy", "y/peptide yy y2", "yy y2 receptor", "neuropeptide y/peptide yy y2", "y/peptide yy y2 receptor", "neuropeptide y/peptide yy y2 receptor", "neuropeptide y5", "neuropeptide y5 receptor", "fc5", "rba", "rba i", "rat", "class", "rat brain", "brain class", "class a", "rat brain class", "brain class a", "rat brain class a", "neuropeptide f", "f receptor", "neuropeptide f receptor", "cg1147", "pd", "cg1147 pd", "dmnpfr1", "npf", "npf receptor", "npfr", "npfr pd", "dnpf", "dnpf receptor", "receptor 1", "f receptor 1", "neuropeptide f receptor 1", "isoform d", "receptor isoform", "f receptor isoform", "receptor isoform d", "neuropeptide f receptor isoform", "f receptor 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"demethoxyubiquinone 3", "3 hydroxylase", "nadph dependent 3", "dependent 3 demethoxyubiquinone", "3 demethoxyubiquinone 3", "demethoxyubiquinone 3 hydroxylase", "hydroxylase mitochondrial", "nadph dependent 3 demethoxyubiquinone", "dependent 3 demethoxyubiquinone 3", "3 demethoxyubiquinone 3 hydroxylase", "3 hydroxylase mitochondrial", "nadph dependent 3 demethoxyubiquinone 3", "dependent 3 demethoxyubiquinone 3 hydroxylase", "demethoxyubiquinone 3 hydroxylase mitochondrial", "1.14.13.253", "nadh", "hydroxylase nadh", "3 hydroxylase nadh", "demethoxyubiquinone 3 hydroxylase nadh", "5 demethoxyubiquinone", "demethoxyubiquinone hydroxylase", "5 demethoxyubiquinone hydroxylase", "demethoxyubiquinone hydroxylase mitochondrial", "5 demethoxyubiquinone hydroxylase mitochondrial", "coq7", "coenzyme", "homolog", "ubiquinone", "coq7 coenzyme", "coenzyme q", "7 homolog", "homolog ubiquinone", "coq7 coenzyme q", "q 7", "7 homolog ubiquinone", "coenzyme q 7", "q 7 homolog", "coq7 coenzyme q 7", "coenzyme q 7 homolog", "q 7 homolog ubiquinone", "dmq", "dmq hydroxylase", "mitochondrial isoform", "mitochondrial isoform 2", "hydroxylase mitochondrial isoform", "3 hydroxylase mitochondrial isoform", "hydroxylase mitochondrial isoform 2", "timing", "clk", "timing protein", "protein clk", "clk 1", "1 homolog", "timing protein clk", "protein clk 1", "clk 1 homolog", "timing protein clk 1", "protein clk 1 homolog", "timing protein clk 1 homolog", "biosynthesis", "ubiquinone biosynthesis", "biosynthesis monooxygenase", "monooxygenase coq7", "ubiquinone biosynthesis monooxygenase", "biosynthesis monooxygenase coq7", "ubiquinone biosynthesis monooxygenase coq7", "q biosynthesis", "biosynthesis protein", "protein 7", "coenzyme q biosynthesis", "q biosynthesis protein", "biosynthesis protein 7", "protein 7 homolog", "coenzyme q biosynthesis protein", "q biosynthesis protein 7", "biosynthesis protein 7 homolog", "coenzyme q biosynthesis protein 7", "q biosynthesis protein 7 homolog", "q7", "coenzyme q7", "q7 homolog", "coenzyme q7 homolog", "q7 homolog ubiquinone", "coenzyme q7 homolog ubiquinone", "placental", "kg", "20", "placental protein", "protein kg", "kg 20", "placental protein kg", "protein kg 20", "placental protein kg 20", "protein coq7", "coq7 homolog", "ubiquinone biosynthesis protein", "biosynthesis protein coq7", "protein coq7 homolog", "ubiquinone biosynthesis protein coq7", "biosynthesis protein coq7 homolog", "ubiquinone biosynthesis protein coq7 homolog", "prepro", "prepro neuropeptide", "prepro neuropeptide y", "npy2", "npy2 r", "channel 1", "calcium channel 1", "brain calcium channel 1", "1a subunit", "channel voltage", "alpha 1a subunit", "calcium channel voltage", "channel voltage dependent", "p/q type alpha", "type alpha 1a", "calcium channel voltage dependent", "p/q type alpha 1a", "type alpha 1a subunit", "fetal", "ca2+", "alpha1a", "pore", "forming", "fetal brain", "brain ca2+", "ca2+ voltage", "gated channel", "channel alpha1a", "alpha1a pore", 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delta polypeptide", "3/tryptophan", "tyrosine 3/tryptophan", "3/tryptophan 5", "tyrosine 3/tryptophan 5", "3/tryptophan 5 monooxygenase", "tyrosine 3/tryptophan 5 monooxygenase", "3/tryptophan 5 monooxygenase activation" ] }, { "record_id": "DOID:0070311", "record_type": "disease", "section": "disease_id", "phraselist": [ "doid:0070311", "0070311" ] }, { "record_id": "DOID:0070311", "record_type": "disease", "section": "disease_name", "phraselist": [ "oligoasthenoteratozoospermia", "oat", "oligoasthenoteratospermia" ] }, { "record_id": "DOID:0070311", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "DOID:0070311", "record_type": "disease", "section": "species", "phraselist": [ "7955", "danio", "rerio", "danio rerio", "zebrafish", "rerio 7955", "danio rerio 7955" ] }, { "record_id": "DOID:0070311", "record_type": "disease", "section": "species", "phraselist": [ 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"b1", "bradykinin", "b1 bradykinin", "bradykinin receptor", "b1 bradykinin receptor", "b1r", "bk", "bk 1", "1 receptor", "bk 1 receptor", "kinin", "kinin b1", "wasabi", "wasabi receptor", "1 isoform", "isoform 2", "member 1 isoform", "1 isoform 2", "a member 1 isoform", "member 1 isoform 2", "subfamily a member 1 isoform", "a member 1 isoform 2", "beta", "beta nerve", "beta nerve growth", "beta nerve growth factor", "beta ngf", "factor isoform", "isoform b", "b precursor", "growth factor isoform", "factor isoform b", "isoform b precursor", "nerve growth factor isoform", "growth factor isoform b", "factor isoform b precursor", "beta nerve growth factor isoform", "nerve growth factor isoform b", "growth factor isoform b precursor", "factor beta", "growth factor beta", "nerve growth factor beta", "bam", "22", "bam 8", "8 22", "bam 8 22", "bovine", "adrenal", "medulla", "peptide", "20", "bovine adrenal", "adrenal medulla", "medulla peptide", "peptide 20", "bovine adrenal medulla", "adrenal medulla peptide", "medulla peptide 20", "bovine adrenal medulla peptide", "adrenal medulla peptide 20", "bovine adrenal medulla peptide 20", "peptide 22", "medulla peptide 22", "adrenal medulla peptide 22", "bovine adrenal medulla peptide 22", "peptide 8", "medulla peptide 8", "peptide 8 22", "adrenal medulla peptide 8", "medulla peptide 8 22", "bovine adrenal medulla peptide 8", "adrenal medulla peptide 8 22", "ogf", "opioid", "opioid growth", "opioid growth factor", "preproenkephalin", "preproenkephalin 1", "spermatogenic", "specific", "spermatogenic specific", "specific proenkephalin", "spermatogenic specific proenkephalin", "kda", "heart", "junction 43", "43 kda", "kda heart", "heart protein", "gap junction 43", "junction 43 kda", "43 kda heart", "kda heart protein", "gap junction 43 kda", "junction 43 kda heart", "43 kda heart protein", "gap junction 43 kda heart", "junction 43 kda heart protein", "1 connexin", "alpha 1 connexin", "k1", "connexin k1", "membrane", "junction 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"menadione", "reductase", "menadione reductase", "oxidoreductase", "dioxin", "inducible", "h menadione", "menadione oxidoreductase", "oxidoreductase 1", "dioxin inducible", "p h menadione", "h menadione oxidoreductase", "menadione oxidoreductase 1", "1 dioxin", "nad p h menadione", "p h menadione oxidoreductase", "h menadione oxidoreductase 1", "oxidoreductase 1 dioxin", "1 dioxin inducible", "nad p h menadione oxidoreductase", "p h menadione oxidoreductase 1", "menadione oxidoreductase 1 dioxin", "oxidoreductase 1 dioxin inducible", "h:quinone", "p h:quinone", "h:quinone oxidoreductase", "nad p h:quinone", "p h:quinone oxidoreductase", "h:quinone oxidoreductase 1", "nad p h:quinone oxidoreductase", "p h:quinone oxidoreductase 1", "nad p h:quinone oxidoreductase 1", "phylloquinone", "phylloquinone reductase", "qr1", "quinone reductase", "reductase 1", "quinone reductase 1", "nadh/nadph", "diaphorase 4", "4 nadh/nadph", "diaphorase 4 nadh/nadph", "pro", "neuregulin", "bound", "pro 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"p h:menadione", "h:menadione oxidoreductase", "nad p h:menadione", "p h:menadione oxidoreductase", "nad p h:menadione oxidoreductase", "1 type", "iii beta", "beta 3", "neuregulin 1 type", "1 type iii", "type iii beta", "iii beta 3", "neuregulin 1 type iii", "1 type iii beta", "type iii beta 3", "neuregulin 1 type iii beta", "1 type iii beta 3", "isoform 6", "isoform isoform 6", "bound isoform isoform 6", "membrane bound isoform isoform 6", "factor precursor", "growth factor precursor", "nerve growth factor precursor", "beta nerve growth factor precursor", "polypeptide", "beta polypeptide", "factor beta polypeptide", "growth factor beta polypeptide", "long", "pro nerve", "factor long", "pro nerve growth", "growth factor long", "pro nerve growth factor", "nerve growth factor long", "pro nerve growth factor long", "potential ankyrin", "ankyrin 1", "receptor potential ankyrin", "potential ankyrin 1", "transient receptor potential ankyrin", "receptor potential ankyrin 1", "transient 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nucleotide gated", "nucleotide gated channel subunit", "gated channel subunit 1", "olfactory cyclic nucleotide gated channel", "cyclic nucleotide gated channel subunit", "nucleotide gated channel subunit 1", "insulin", "binding", "insulin like", "like growth", "factor binding", "binding protein", "insulin like growth", "like growth factor", "growth factor binding", "factor binding protein", "binding protein 3", "insulin like growth factor", "like growth factor binding", "growth factor binding protein", "factor binding protein 3", "insulin like growth factor binding", "like growth factor binding protein", "growth factor binding protein 3", "ibp", "ibp 3", "igf", "igf binding", "igf binding protein", "igf binding protein 3", "igfbp", "igfbp 3", "bp3", "igf bp3", "protein igf", "binding protein igf", "protein igf bp3", "factor binding protein igf", "binding protein igf bp3", "3 precursor", "protein 3 precursor", "binding protein 3 precursor", "factor binding protein 3 precursor", "cg5751", "pj", "cg5751 pj", "trpa1", "trpa1 pj", "danktm1", "dtrpa1", "potential a", "a 1", "receptor potential a", "potential a 1", "transient receptor potential a", "receptor potential a 1", "transient receptor potential a 1", "ortholog", "channel a1", "a1 ortholog", "cation channel a1", "channel a1 ortholog", "potential cation channel a1", "cation channel a1 ortholog", "receptor potential cation channel a1", "potential cation channel a1 ortholog", "isoform j", "a1 isoform", "channel a1 isoform", "a1 isoform j", "cation channel a1 isoform", "channel a1 isoform j", "vein", "protein vein", "cg10491", "pa", "cg10491 pa", "dm", "dm vein", "epidermal", "epidermal growth", "factor like", "epidermal growth factor", "growth factor like", "factor like protein", "epidermal growth factor like", "growth factor like protein", "epidermal growth factor like protein", "defective", "dorsal", "discs", "protein defective", "defective dorsal", "dorsal discs", "protein defective dorsal", "defective dorsal discs", "protein defective dorsal discs", "isoform a", "vein isoform", "vein isoform a", "vn", "vn pa", "cg5842", "pb", "cg5842 pb", "nanchung", "nanchung isoform", "nanchung isoform b", "nan", "nan pb", "acyl", "coa", "acyl coa", "coa binding", "acyl coa binding", "coa binding protein", "acyl coa binding protein", "acbp", "dbi", "diazepam", "inhibitor", "diazepam binding", "binding inhibitor", "diazepam binding inhibitor", "ep", "endozepine", "coenzyme", "acyl coenzyme", "coenzyme a", "a binding", "acyl coenzyme a", "coenzyme a binding", "a binding protein", "acyl coenzyme a binding", "coenzyme a binding protein", "acyl coenzyme a binding protein", "protein isoform", "isoform 3", "binding protein isoform", "protein isoform 3", "coa binding protein isoform", "binding protein isoform 3", "acyl coa binding protein isoform", "coa binding protein isoform 3", "domain", "containing", "binding domain", "domain containing", "containing 1", "a binding domain", "binding domain containing", "domain containing 1", "coenzyme a binding domain", "a binding domain containing", "binding domain containing 1", "acyl coenzyme a binding domain", "coenzyme a binding domain containing", "a binding domain containing 1", "cholecystokinin", "releasing", "trypsin", "sensitive", "cholecystokinin releasing", "releasing peptide", "trypsin sensitive", "cholecystokinin releasing peptide", "peptide trypsin", "releasing peptide trypsin", "peptide trypsin sensitive", "cholecystokinin releasing peptide trypsin", "releasing peptide trypsin sensitive", "gaba", "modulator", "gaba receptor", "receptor modulator", "inhibitor gaba", "gaba receptor modulator", "modulator acyl", "binding inhibitor gaba", "inhibitor gaba receptor", "receptor modulator acyl", "modulator acyl coa", "diazepam binding inhibitor gaba", "binding inhibitor gaba receptor", "inhibitor gaba receptor modulator", "gaba receptor modulator acyl", "receptor modulator acyl coa", "modulator acyl coa binding", "modulator acyl coenzyme", "receptor modulator acyl coenzyme", "modulator acyl coenzyme a", "epididymis", "secretory", "sperm", "epididymis secretory", "secretory sperm", "sperm binding", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "gamma", "crystallin", "gamma crystallin", "crystallin d", "gamma crystallin d", "gamma d", "d crystallin", "gamma d crystallin", "crystallin 4", "gamma crystallin 4", "beta subunit", "factor beta subunit", "growth factor beta subunit", "isoform 1", "1 precursor", "reactive protein isoform", "protein isoform 1", "isoform 1 precursor", "c reactive protein isoform", "reactive protein isoform 1", "protein isoform 1 precursor", "c reactive protein isoform 1", "reactive protein isoform 1 precursor", "pentraxin 1", "cd40 antigen", "antigen ligand", "cd40 antigen ligand", "activating", "molecule", "t b", "b cell", "cell activating", "activating molecule", "t b cell", "b cell activating", "cell activating molecule", "t b cell activating", "b cell activating molecule", "t b cell activating molecule", "enkephalin a", "peptide f", "preproprotein", "a preproprotein", "proenkephalin a preproprotein", "bradykinin receptor 1", "transformation", "p120", "transformation sensitive", "sensitive protein", "protein p120", "transformation sensitive protein", "sensitive protein p120", "transformation sensitive protein p120", "domains 1", "transmembrane domains 1", "with transmembrane domains 1", "like with transmembrane domains 1", "43kda", "1 43kda", "alpha 1 43kda", "1 isoform a", "quinone 1 isoform", "quinone 1 isoform a", "h quinone", "quinone oxidoreductase", "p h quinone", "h quinone oxidoreductase", "nad p h quinone", "p h quinone oxidoreductase", "nad p h quinone oxidoreductase", "acceptor", "h:quinone acceptor", "acceptor oxidoreductase", "oxidoreductase type", "p h:quinone acceptor", "h:quinone acceptor oxidoreductase", "acceptor oxidoreductase type", "oxidoreductase type 1", "nad p h:quinone acceptor", "p h:quinone acceptor oxidoreductase", "h:quinone acceptor oxidoreductase type", "acceptor oxidoreductase type 1", "nad p h:quinone acceptor oxidoreductase", "p h:quinone acceptor oxidoreductase type", "h:quinone acceptor oxidoreductase type 1", "h:menadione oxidoreductase 1", "p h:menadione oxidoreductase 1", "nad p h:menadione oxidoreductase 1", "oxireductase", "h:quinone oxireductase", "p h:quinone oxireductase", "nad p h:quinone oxireductase", "cytochrome", "cytochrome b", "b 5", "5 reductase", "cytochrome b 5", "b 5 reductase", "nadh/nadph cytochrome", "cytochrome b 5 reductase", "nadh/nadph cytochrome b", "inducible 1", "dioxin inducible 1", "40kda", "5 40kda", "alpha 5 40kda", "junction protein alpha 5", "protein alpha 5 40kda", "gap junction protein alpha 5", "junction protein alpha 5 40kda", "breast", "cancer", "p45", "breast cancer", "cancer cell", "cell differentiation", "factor p45", "breast cancer cell", "cancer cell differentiation", "cell differentiation factor", "differentiation factor p45", "breast cancer cell differentiation", "cancer cell differentiation factor", "cell differentiation factor p45", "breast cancer cell differentiation factor", "cancer cell differentiation factor p45", "class", "vii", "2a", "nrg1 class", "class vii", "vii isoform", "isoform alpha", "alpha 2a", "nrg1 class vii", "class vii isoform", "vii isoform alpha", "isoform alpha 2a", "nrg1 class vii isoform", "class vii isoform alpha", "vii isoform alpha 2a", "nrg1 class vii isoform alpha", "class vii isoform alpha 2a", "2b", "alpha 2b", "isoform alpha 2b", "vii isoform alpha 2b", "class vii isoform alpha 2b", "alpha beta", "beta 2a", "isoform alpha beta", "alpha beta 2a", "vii isoform alpha beta", "isoform alpha beta 2a", "class vii isoform alpha beta", "vii isoform alpha beta 2a", "alpha beta 3", "isoform alpha beta 3", "vii isoform alpha beta 3", "isoform beta", "vii isoform beta", "isoform beta 2a", "class vii isoform beta", "vii isoform beta 2a", "nrg1 class vii isoform beta", "class vii isoform beta 2a", "isoform beta 3", "vii isoform beta 3", "class vii isoform beta 3", "factor 2", "growth factor 2", "glial growth factor 2", "45kd", "erbb2", "p185", "activator", "erbb2 p185", "p185 activator", "heregulin alpha", "alpha 45kd", "45kd erbb2", "erbb2 p185 activator", "45kd erbb2 p185", "heregulin alpha 45kd", "alpha 45kd erbb2", "45kd erbb2 p185 activator", "beta1c", "isoform hrg", "hrg beta1c", "isoform isoform hrg", "isoform hrg beta1c", "bound isoform isoform hrg", "isoform isoform hrg beta1c", "membrane bound isoform isoform hrg", "bound isoform isoform hrg beta1c", "vanilloid 1a", "potential vanilloid 1a", "receptor potential vanilloid 1a", "transient receptor potential vanilloid 1a", "1b", "vanilloid 1b", "potential vanilloid 1b", "receptor potential vanilloid 1b", "transient receptor potential vanilloid 1b" ] }, { "record_id": 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"record_id": "DOID:0070463", "record_type": "disease", "section": "species", "phraselist": [ "10090", "mus", "musculus", "mus musculus", "mouse", "musculus 10090", "mus musculus 10090" ] }, { "record_id": "DOID:0070463", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "DOID:0070463", "record_type": "disease", "section": "species", "phraselist": [ "559292", "saccharomyces", "cerevisiae", "s288c", "saccharomyces cerevisiae", "cerevisiae s288c", "saccharomyces cerevisiae s288c", "yeast", "baker's", "baker's yeast", "s288c 559292", "cerevisiae s288c 559292", "saccharomyces cerevisiae s288c 559292" ] }, { "record_id": "DOID:0070463", "record_type": "disease", "section": "species", "phraselist": [ "10116", "rattus", "norvegicus", "rattus norvegicus", "rat", "norvegicus 10116", "rattus norvegicus 10116" ] }, { "record_id": "DOID:0070463", "record_type": "disease", "section": "species", "phraselist": [ "7227", "drosophila", "melanogaster", "drosophila melanogaster", "fruit", "fly", "fruit fly", "melanogaster 7227", "drosophila melanogaster 7227" ] }, { "record_id": "DOID:0070463", "record_type": "disease", "section": "proteins", "phraselist": [ "q9d3d9", "q9d3d9 1", "atpd_mouse", "np_079589", "glycoprotein", "atp5f1d", "0610008f14rik", "1500000i11rik", "atp5d", "p30049", "p30049 1", "atpd_human", "np_001001975", "mc5dn5", "q12165", "q12165 1", "atpd_yeast", "np_010280", "atp16", "d2935", "yd8119.03", "p35434", "p35434 1", "atpd_rat", "np_620806", "q9w2x6", "q9w2x6 1", "q9w2x6_drome", "np_001259397", "atpsyndelta", "atpd", "cg2968", "dmel\\cg2968", "dmel_cg2968", "anon", "wo03040301.109", "anon wo03040301.109", "wo03040301.110", "anon wo03040301.110", "g0230", "l 1", "1 g0230", "l 1 g0230" ] }, { "record_id": "DOID:0070463", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "synthase", "complex", "subunit", "delta", 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