{ "bcoid": "GLY_000277", "title": "Human Glycosylation Diseases", "description": "The Human Glycosylation Diseases dataset contains human [taxid:9606] glycosylations diseases mapped to ...", "filename": "human_protein_glyco_disease.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Diseases", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "P20933-1...", "AGA..." ], [ "Q9BT22-1...", "ALG1..." ] ], "headers": [ "uniprotkb_ca...", "gene_symbol..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "gene_symbol" }, { "type": "string", "label": "disease_aliases" }, { "type": "string", "label": "mondo_disease_name" }, { "type": "string", "label": "mondo_label" }, { "type": "string", "label": "mondo_id" }, { "type": "string", "label": "pmid" } ], [ "P20933-1", "AGA", "aspartylglucosaminuria, aspartylglucosaminidase deficiency, glycosylasparaginase deficiency, aspartylglycosaminuria", "Aspartylglucosaminuria", "Aspartylglucosaminuria", "MONDO:0008830", "" ], [ "Q9BT22-1", "ALG1", "CDG1K, congenital disorder of glycosylation type Ik, mannosyltransferase 1 deficiency, \nCDG syndrome type Ik, congenital disorder of glycosylation type 1k, CDG-Ik, \ncarbohydrate deficient glycoprotein syndrome type Ik", "ALG1-CDG", "ALG1-CDG", "MONDO:0012052", "26430078" ], [ "Q2TAA5-1", "ALG11", "CDG-Ip, Congenital Disorder of Glycosylation, Type Ip", "ALG11-CDG", "ALG11-CDG", "MONDO:0013349", "" ], [ "Q9BV10-1", "ALG12", "Congenital disorder of glycosylation, type Ig, CDG-Ig", "ALG12-CDG", "ALG12-CDG", "MONDO:0011783", "" ], [ "Q9NP73-1", "ALG13", "CDG-Is, Congenital Disorder of Glycosylation, Type Is", "ALG13-CDG", "ALG13-CDG", "MONDO:0010472", "" ], [ "Q96F25-1", "ALG14", "ALG14 congenital myasthenic syndrome, congenital myasthenic syndrome type 15, myasthenic syndrome, \ncongenital, type 15, congenital myasthenic syndrome caused by mutation in ALG14, CMS15, \ncongenital myasthenic syndrome 15 without tubular aggregates", "ALG14-CMS", "congenital myasthenic syndrome 15", "MONDO:0014542", "" ], [ "Q9H553-1", "ALG2", "CDG-Ii, Congenital disorder of glycosylation, type Ii", "ALG2-CDG", "ALG2-CDG", "MONDO:0011933", "" ], [ "Q92685-1", "ALG3", "CDG-Id, Congenital disorder of glycosylation, type Id", "ALG3-CDG", "ALG3-CDG", "MONDO:0010998", "" ], [ "Q9Y672-1", "ALG6", "CDG-Ic, Congenital disorder of glycosylation, type Ic", "ALG6-CDG", "congenital disorder of glycosylation type 1C", "MONDO:0011291", "" ], [ "Q9BVK2-1", "ALG8", "Congenital disorder of glycosylation, type Ih, CDG-Ih", "ALG8-CDG", "ALG8-CDG", "MONDO:0011969", "" ], [ "Q9H6U8-1", "ALG9", "CDG-IL, Congenital disorder of glycosylation, type IL", "ALG9-CDG", "ALG9-CDG", "MONDO:0012117", "" ], [ "P15289-1", "ARSA", "MLD, arylsulfatase A deficiency, sulfatide lipoidosis, Scholz cerebral sclerosis, deficiency of cerebroside-sulfatase", "Metachromatic leukodystrophy", "metachromatic leukodystrophy", "MONDO:0018868", "" ], [ "P15848-1", "ARSB", "MPS VI, Maroteaux-Lamy syndrome", "Mucopolysaccharidosis VI", "mucopolysaccharidosis type 6", "MONDO:0009661", "" ], [ "Q13510-1", "ASAH1", "Acid Ceramidase Deficiency", "Farber Lipogranulomatosis", "Farber lipogranulomatosis", "MONDO:0009218", "" ], [ "Q15904-1", "ATP6AP1", "immunodeficiency 47, IMD47\nimmunodeficiency type 47, primary immunodeficiency disease caused by mutation in ATP6AP1,\n immunodeficiency 47, IMD47, ATP6AP1 primary immunodeficiency disease", "ATP6AP1-CDG", "immunodeficiency 47", "MONDO:0010504", "" ], [ "O75787-1", "ATP6AP2", "mental retardation, X-linked, syndromic, Hedera type, MRXE, MRXSH, X-linked mental retardation with epilepsy", "ATP6AP2-CDG", "syndromic X-linked intellectual disability Hedera type", "MONDO:0010319", "" ], [ "P38606-1", "ATP6V1A", "cutis laxa, autosomal recessive, type IID, ARCL2D, autosomal recessive cutis laxa type IID, \ncutis laxa, autosomal recessive, type 2D", "ATP6V1A-CDG", "autosomal recessive cutis laxa type 2d", "MONDO:0027451", "" ], [ "P36543-1", "ATP6V1E1", "autosomal recessive cutis laxa type IIC, ARCL2C, cutis laxa, autosomal recessive, type 2C, \ncutis laxa, autosomal recessive, type IIC, ARCL2C", "ATP6V1E1-CDG", "autosomal recessive cutis laxa type 2c", "MONDO:0027462", "" ], [ "Q9Y487-1", "ATP6V0A2", "V-ATPase a2 subunit defect, Debre-Type cutis laxa, \nCutis laxa, autosomal recessive, type IIA (ARCL2A), \nATP6VOA2 defect (cutis laxa type II)", "ATP6VOA2-CDG", "Autosomal recessive cutis laxa type 2A", "MONDO:0018163", "" ], [ "Q8NCR0-1", "B3GALNT2", "Congenital muscular dystrophy (MDDGA11)\nmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, \nB3GALNT2 muscular dystrophy-dystroglycanopathy, type A, \nmuscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2", "B3GALNT2-CDG", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11", "MONDO:0014071", "" ], [ "Q96L58-1", "B3GALT6", "Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD, pakistani type", "Spondyloepimetaphyseal dysplasia, pakistani type", "spondyloepimetaphyseal dysplasia, Pakistani type", "MONDO:0013019", "" ], [ "Q6Y288-1", "B3GLCT", "Peters-plus syndrome, Krause-Kivlin syndrome, \nPeters anomaly with short limb dwarfism", "B3GALTL-CDG", "ALG13-CDG", "MONDO:0009856", "" ], [ "O94766-1", "B3GAT3", "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "B3GAT3-CDG", "Larsen-like syndrome, B3GAT3 type", "MONDO:0009511", "" ], [ "Q6Y288-1", "B3GLCT", "Peters anomaly-short limb dwarfism syndrome, Krause-van Schooneveld-Kivlin syndrome, Peters-plus syndrome, Krause-Kivlin syndrome, Peters anomaly with short limb dwarfism", "B3GLCT-CDG", "Peters plus syndrome", "MONDO:0009856", "" ], [ "Q00973-1", "B4GALNT1", "autosomal recessive spastic paraplegia type 26, hereditary spastic paraplegia type 26, GM2 synthase deficiency, SPG26, autosomal recessive spastic paraplegia 26", "B4GALNT1-CDG", "hereditary spastic paraplegia 26", "MONDO:0012213", "" ], [ "P15291-1", "B4GALT1", "CDG-IId, Congenital disorder of glycosylation, type IId", "B4GALT1-CDG", "B4GALT1-CDG", "MONDO:0011772", "" ], [ "Q9UBV7-1", "B4GALT7", "Ehlers-Danlos syndrome, progeroid form, \nEhlers-Danlos syndrome, progeroid type, 1, \nGalactosyltransferase 1 deficiency", "B4GALT7-CDG", "Ehlers-Danlos syndrome progeroid type", "MONDO:0007526", "" ], [ "O43505-1", "B4GAT1", "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, MDDGA13", "B4GAT1-CDG", "muscular dystrophy-dystroglycanopathy\n (congenital with brain and eye anomalies), type A13", "MONDO:0014120", "" ], [ "Q96EU7-1", "C1GALT1C1", "Tn syndrome (SOMATIC MUTATION), \nGalactosyltransferase Deficiency", "Tn polyagglutination syndrome, somatic (SOMATIC MUTATION)", "Tn Polyagglutination syndrome", "MONDO:0010381", "" ], [ "P27708-1", "CAD", "epileptic encephalopathy, early infantile, 50, \ncongenital disorder of glycosylation, type Iz, formerly, \nepileptic encephalopathy, \nearly infantile, 50, EIEE50, congenital disorder of glycosylation, \ntype Iz, EIEE50, congenital disorder of glycosylation, type Iz, CDG1Z", "CAD-CDG", "CAD-CDG", "MONDO:0014647", "" ], [ "Q96NT0-1", "CCDC115", "carbohydrate deficient glycoprotein syndrome type IIo, CDG-IIo, \nCDG syndrome type IIo, CDG2O, congenital disorder of glycosylation type IIo, \ncongenital disorder of glycosylation, type IIo, congenital disorder of glycosylation type 2o", "CCDC115-CDG", "CCDC115-CDG", "MONDO:0014789", "" ], [ "Q8NCH0-1", "CHST14", "Adducted thumb and clubfoot syndrome", "Ehlers-Danlos syndrome, musculocontractural type", "Ehlers-Danlos syndrome, musculocontractural type", "MONDO:0011142", "" ], [ "Q7LGC8-1", "CHST3", "chondrodysplasia with multiple dislocations, Kozlowski Celermajer tink syndrome, SDCD, CHST3 type, \nCHST3-Related skeletal dysplasia, chondrodysplasia with congenital joint dislocations, CHST3 type, spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type, spondyloepiphyseal dysplasia with congenital joint dislocations, Humerospinal dysostosis, Omani type, humero-spinal dysostosis with congenital heart disease, spondyloepiphyseal dysplasia", "CHST3-CDG", "spondyloepiphyseal dysplasia with congenital joint dislocations", "MONDO:0007738", "" ], [ "Q9GZX3-1", "CHST6", "Macular corneal dystrophy Type II, Macular corneal dystrophy Type I", "Macular corneal dystrophy", "macular corneal dystrophy", "MONDO:0009020", "" ], [ "Q86X52-1", "CHSY1", "TPBS", "Temtamy preaxial brachydactyly syndrome", "temtamy preaxial brachydactyly syndrome", "MONDO:0011533", "" ], [ "Q8WTW3-1", "COG1", "Congenital disorder of glycosylation, type IIg,\n CDGII/COG1 Cerebrocostomandibular-like syndrome,\n CDG-IIg, COG1 deficiency", "COG1-CDG", "COG1-CDG", "MONDO:0012637", "" ], [ "Q14746-1", "COG2", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq, CDG2Q", "COG2-CDG", "congenital disorder of glycosylation, type IIq", "MONDO:0054559", "" ], [ "Q9H9E3-1", "COG4", "Congenital disorder of glycosylation, type IIj, CDG-IIj", "COG4-CDG", "COG4-CDG", "MONDO:0013281", "" ], [ "Q9UP83-1", "COG5", "Congenital disorder of glycosylation, type IIi, CDG-IIi", "COG5-CDG", "COG5-CDG", "MONDO:0013325", "" ], [ "Q9Y2V7-1", "COG6", "CDG-IIL, Congenital Disorder of Glycosylation, Type IIL", "COG6-CDG", "COG6-CGD", "MONDO:0013810", "" ], [ "P83436-1", "COG7", "Congenital disorder of glycosylation, type IIe, CDG-IIe", "COG7-CDG", "COG7-CDG", "MONDO:0012118", "" ], [ "Q96MW5-1", "COG8", "CDG-IIh, COG8 deficiency, \nCongenital disorder of glycosylation, type IIh", "COG8-CDG", "COG8-CDG", "MONDO:0012635", "" ], [ "P10619-1", "CTSA", "Combined deficiency of sialidase AND beta galactosidase", "Galactosialidosis", "galactosialidosis", "MONDO:0009737", "" ], [ "P39656-1", "DDOST", "Congenital Disorder of Glycosylation, Type Ir, CDG-Ir", "DDOST-CDG", "DDOST-CDG", "MONDO:0013789", "" ], [ "Q86SQ9-1", "DHDDS", "retinitis pigmentosa caused by mutation in DHDDS, RP59, DHDDS retinitis pigmentosa,\n retinitis pigmentosa type 59, retinitis pigmentosa 59", "DHDDS retinitis pigmentosa", "retinitis pigmentosa 59", "MONDO:0013468", "" ], [ "P11532-1", "DMD", "Muscular dystrophy, pseudohypertrophic progressive, \nDuchenne type, DMD", "Duchenne muscular dystrophy", "Duchenne muscular dystrophy", "MONDO:0010679", "" ], [ "Q9UPQ8-1", "DOLK", "CDG-Im, DK1-CDG, Dolichol kinase deficiency, \nCongenital disorder of glycosylation, type Im, DK1 deficiency", "DOLK-CDG", "congenital disorder of glycosylation type I", "MONDO:0012556", "" ], [ "Q9H3H5-1", "DPAGT1", "CDG-Ij, Congenital disorder of glycosylation, type Ij", "DPAGT1-CDG", "DPAGT1-CDG", "MONDO:0011964", "" ], [ "O60762-1", "DPM1", "CDG-Ie, Congenital disorder of glycosylation, type Ie", "DPM1-CDG", "congenital disorder of glycosylation type 1E", "MONDO:0012123", "" ], [ "O94777-1", "DPM2", "CDG-Iu, CDG syndrome type Iu, carbohydrate deficient glycoprotein syndrome type Iu,\ncongenital disorder of glycosylation type 1u, DPM2-CDG, CDG1U, \nCMD with intellectual disability and severe epilepsy, congenital disorder of glycosylation type Iu", "DMP2-CDG", "congenital muscular dystrophy \nwith intellectual disability and severe epilepsy", "MONDO:0014023", "" ], [ "Q9P2X0-1", "DPM3", "CDG-Io, Congenital Disorder of Glycosylation, Type Io", "DPM3-CDG", "DPM3-CDG", "MONDO:0013049", "" ], [ "Q9UL01-1", "DSE", "Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome, \nmusculocontractural type caused by mutation in DSE, DSE Ehlers-Danlos syndrome, musculocontractural type", "DSE Ehlers-Danlos syndrome", "Ehlers-Danlos syndrome, musculocontractural type 2", "MONDO:0014236", "" ], [ "Q5NDL2-1", "EOGT", "Adams-Oliver syndrome type 4, EOGT Adams-Oliver syndrome, \nAdams-Oliver syndrome 4, Adams-Oliver syndrome caused by mutation in EOGT", "EOGT Adams-Oliver syndrome", "Adams-Oliver syndrome 4", "MONDO:0014124", "" ], [ "Q16394-1", "EXT1", "Hereditary multiple osteochondromas (HMO), \nHereditary multiple exostoses (HME), \nMultiple cartilaginous exostoses, \nExostoses, multiple, type 2, Exostoses, multiple, type 1", "EXT1/EXT2-CDG", "Hereditary multiple osteochondromas", "MONDO:0005508", "" ], [ "Q93063-1", "EXT2", "Hereditary multiple osteochondromas (HMO), \nHereditary multiple exostoses (HME), \nMultiple cartilaginous exostoses, \nExostoses, multiple, type 2, Exostoses, multiple, type 1", "EXT1/EXT2-CDG", "Hereditary multiple osteochondromas", "MONDO:0005508", "" ], [ "O43909-1", "EXTL3", "ISDNA, IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities, ISDNA", "immunoskeletal dysplasia with neurodevelopmental abnormalities", "immunoskeletal dysplasia with neurodevelopmental abnormalities", "MONDO:0044312", "" ], [ "Q9H9S5-1", "FKRP", "Muscular dystrophy, congenital, type 1C (MDC1C),\n Congenital muscular dystrophy type 1C (CMD1C), \nFKRP-CDG (cong. muscular dystrophy spectrum), \nMuscular dystrophy-dystroglycanopathy \n(Congenital with or without mental retardation), type B, 5 (MDDGB5)", "Muscular dystrophy, congenital, type 1C", "muscular dystrophy-dystroglycanopathy type B5", "MONDO:0011688", "" ], [ "Q9H9S5-1", "FKRP", "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5), \nFKRP-CDG (cong. muscular dystrophy spectrum), \nLimb-girdle muscular dystrophy type 2I (LGMD2I)", "Muscular dystrophy, limb-girdle, type 2I", "autosomal recessive limb-girdle muscular dystrophy type 2I", "MONDO:0011787", "" ], [ "O75072-1", "FKTN", "Dilated cardiomyopathy with mild or no proximal muscle weakness, \nCardiomyopathy, dilated, 1X (CMD1X), \nFKTN-CDG (cong. muscular dystrophy spectrum)", "Cardiomyopathy, dilated, 1X", "dilated cardiomyopathy 1X", "MONDO:0012704", "" ], [ "O75072-1", "FKTN", "Fukuyama congenital muscular dystrophy (FCMD),\n Muscular dystrophy-dystroglycanopathy\n (congenital with brain and eye anomalies), type A, 4 (MDDGA4), \nFKTN-CDG (cong. muscular dystrophy spectrum)", "Fukuyama congenital muscular dystrophy", "Fukuyama congenital muscular dystrophy", "MONDO:0009678", "" ], [ "O75072-1", "FKTN", "Muscular dystrophy-dystroglycanopathy (limb-girdle), \ntype C, 4 (MDDGC4), \nLimb-girdle muscular dystrophy type 2M (LGMD2M), \nFKTN-CDG (cong. muscular dystrophy spectrum)", "Muscular dystrophy, limb-girdle, \ntype 2M", "autosomal recessive limb-girdle muscular dystrophy type 2M", "MONDO:0012699", "" ], [ "P04066-1", "FUCA1", "A-fucosidase deficiency, Alpha-L-fucosidase deficiency, alpha fucosidase deficiency, fucosidosis", "Fucosidosis", "Fucosidosis", "MONDO:0009254", "23676310" ], [ "Q9BYC5-1", "FUT8", "CONGENITAL DISORDER OF glycosylation with defective fucosylation, CDGF, CDGF", "FUT8-CDG", "congenital disorder of glycosylation with defective fucosylation", "MONDO:0060720", "" ], [ "Q9BUM1-1", "G6PC3", "SCN4, severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome, \nsevere congenital neutropenia type 4, Dursun syndrome", "severe congenital neutropenia type 4", "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency", "MONDO:0012930", "" ], [ "P10253-1", "GAA", "GSD type II, Lysosomal alpha 1,4 Glucosidase Deficiency Disease", "Pompe disease", "glycogen storage disease due to acid maltase deficiency, late-onset", "MONDO:0018485", "23676310" ], [ "P54803-1", "GALC", "Galactosylceramide beta-galactosidase deficiency, \nLeukodystrophy, globoid cell, Krabbe leukodystrophy, \nGloboid cell leukodystrophy", "Krabbe disease", "Krabbe disease", "MONDO:0009499", "" ], [ "P34059-1", "GALNS", "MPS IVA, Galactosamine-6-sulphatase deficiency, \nMorquio's syndrome, classic form, Mucopolysaccharidosis type IVA", "Morquio syndrome A", "Morquio syndrome C", "MONDO:0009647", "" ], [ "Q14435-1", "GALNT3", "Tumoral calcinosis, hyperphosphatemic, familial", "GALNT3-CDG", "hyperphosphatemic familial tumoral calcinosis", "MONDO:0008897", "" ], [ "Q14697-1", "GANAB", "polycystic kidney disease type 3, Apkd3, GANAB autosomal dominant polycystic kidney disease, \npolycystic kidney disease, adult, type III, polycystic kidney disease 3, \nautosomal dominant polycystic kidney disease caused by mutation in GANAB, Pkd3", "GANAB-CDG", "polycystic kidney disease 3", "MONDO:0010916", "" ], [ "P04062-1", "GBA", "non-neuronopathic form", "Gaucher disease, type I", "Gaucher disease type I", "MONDO:0009265", "23676311" ], [ "P04062-1", "GBA", "acute neuronopathic Gaucher disease, infantile cerebral Gaucher disease, GD II, Gaucher's disease type II, \nGaucher disease, acute neuronopathic type", "Gaucher disease, type II", "Gaucher disease type II", "MONDO:0009266", "23676312" ], [ "P04062-1", "GBA", "neuronopathic form", "Gaucher disease, type III", "Gaucher disease type III", "MONDO:0009267", "23676313" ], [ "P04062-1", "GBA", "neuronopathic form, cardiovascular form", "Gaucher disease, type IIIC", "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "MONDO:0009268", "23676314" ], [ "Q06210-1", "GFPT1", "CMSTA1", "Myasthenia, congenital, with tubular aggregates 1", "congenital myasthenic syndrome with tubular aggregates", "MONDO:0000182", "" ], [ "P06280-1", "GLA", "Alpha-galactosidase A deficiency", "Fabry disease", "Fabry disease", "MONDO:0010526", "" ], [ "P16278-1", "GLB1", "Norman-Landing disease, infantile GM1 gangliosidosis", "GM1-gangliosidosis, type I", "GM1 gangliosidosis type 1", "MONDO:0009260", "23676310" ], [ "P16278-1", "GLB1", "juvenile form, Derry syndrome", "GM1-gangliosidosis, type II", "GM1 gangliosidosis type 2", "MONDO:0009261", "" ], [ "P16278-1", "GLB1", "adult form", "GM1-gangliosidosis, type III", "GM1 gangliosidosis type 3", "MONDO:0009262", "" ], [ "P16278-1", "GLB1", "MPS IVB, Morquio-like syndrome, Mucopolysaccharidosis type IVB", "Morquio syndrome B", "Morquio syndrome C", "MONDO:0009647", "" ], [ "P17900-1", "GM2A", "GM2-Gangliosidosis, B variant, GM2-gangliosidosis, type I, \nHexosaminidase A deficiency", "Tay-Sachs disease", "Tay-Sachs disease AB variant", "MONDO:0010099", "" ], [ "Q96IJ6-1", "GMPPA", "GMPPA-CDG, alacrima, achalasia, and mental retardation syndrome, AAMR, AAMR", "GMPPA-CDG", "alacrima, achalasia, and mental retardation syndrome", "MONDO:0014219", "" ], [ "Q9Y5P6-1", "GMPPB", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14", "MONDO:0014140", "" ], [ "Q9Y223-1", "GNE", "GNE-CDG (hereditary inclusion body myopathy), \nInclusion body myopathy 2, autosomal recessive (IBM2), \nHereditary inclusion body myopathy type 2 (HIBM2)", "Hereditary inclusion body myopathy type 2", "hereditary inclusion body myopathy type 4", "MONDO:0011603", "" ], [ "Q9Y223-1", "GNE", "Nonaka myopathy (NM), Distal myopathy with rimmed vacuoles (DMRV),\n Distal myopathy, Nonaka type", "Nonaka myopathy", "GNE myopathy", "MONDO:0011603", "" ] ] }, "readme": "Name\n - Human Glycosylation Diseases\n\nVersion\n - 1.5.18\n\nCreated on\n - 2019-09-06T16:21:59.896067\n\nModified on\n - 2020-04-10T11:46:41.163214\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Rahi Navelkar [rsn13@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Xavier Holmes [xavierh@email.gwu.edu]\n\nAuthors\n - Jean-Philippe Gourdine [gourdine@ohsu.edu]\n\nChecksum\n - \n\nUsability Domain\n - The Human Glycosylation Diseases dataset contains human [taxid:9606] glycosylations diseases mapped to UniProtKB canonical accessions from Monarch Initiative database. If you use this dataset please provide proper attribution to Monarch Initiative and GlyGen\n\nDescription Domain\n Keywords\n - glycosylation diseases\n - MONDO ID\n - Monarch Initiative\n\n Pipeline Steps\n - Step-1: The script maps the UniProtKB accesions to the UniProtKB Canonical accessions\n\nExecution Domain\n Scripts - https://github.com/GW-HIVE/glygen-backend-integration/blob/master/pipeline/integrator/make-protein-dataset.py\n\n\n Software Prerequisites\n Name: Python\n Version: 2.7.5\n URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n Input Subdomain\n Name: human_protein_glyco_disease.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.18/compiled/human_protein_glyco_disease.csv\n Name: human_protein_masterlist.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.18/reviewed/human_protein_masterlist.csv\n Output Subdomain\n Name: human_protein_glyco_disease.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.5.18/reviewed/human_protein_glyco_disease.csv\n Name: human_protein_glyco_disease.stat.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.5.18/reviewed/human_protein_glyco_disease.stat.csv\n\nFields\n Name: \"uniprotkb_canonical_ac\"\n Description: \"Accession assigned to the protein isoform chosen to be the canonical sequence to which all positional annotation refers in UniProtKB database\"\n Unique Values: \"170\"\n Name: \"mondo_label\"\n Description: \"Alternative disease name defined in Mondo Ontology\"\n Unique Values: \"187\"\n Name: \"gene_symbol\"\n Description: \"Official gene name/symbol assigned to the gene. Human gene names/symbols are approved by the HUGO Gene Nomenclature Committee (HGNC)\n Unique Values: \"170\"\n Name: \"mondo_disease_name\"\n Description: \"Disease name defined in Mondo Ontology\"\n Unique Values: \"191\"\n Name: \"disease_aliases\"\n Description: \"NAThe alternative names given to a disease\"\n Unique Values: \"194\"\n Name: \"pmid\"\n Description: \"NCBI PubMed database Identifier\"\n Unique Values: \"8\"\n Name: \"mondo_id\"\n Description: \"The Mondo Disease Ontology (MONDO) identifier\"\n Unique Values: \"185\"", "downloadurl": "/ln2data/releases/data/v-1.5.18/reviewed/human_protein_glyco_disease.csv" }