{ "bcoid": "GLY_000230", "title": "Human Congenital Disorders of Glycosylation", "description": "The Human Congenital Disorders of Glycosylation dataset contains a list of congenital disorders of glycosylation ...", "filename": "human_protein_cdg_disease.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Diseases", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "Q9BT22-1...", "ALG1..." ], [ "Q2TAA5-1...", "ALG11..." ] ], "headers": [ "uniprotkb_ca...", "gene_symbol_..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "gene_symbol_human" }, { "type": "string", "label": "disease_aliases" }, { "type": "string", "label": "disease_name" }, { "type": "string", "label": "mondo_disease_label" }, { "type": "string", "label": "mondo_id" }, { "type": "string", "label": "uniprotkb_ac_mouse" }, { "type": "string", "label": "mgi_id" }, { "type": "string", "label": "gene_symbol_mouse" }, { "type": "string", "label": "mgi_allele_summary_link" } ], [ "Q9BT22-1", "ALG1", "CDG1K, congenital disorder of glycosylation type Ik, mannosyltransferase 1 deficiency, CDG syndrome type Ik, congenital disorder of glycosylation type 1k, CDG-Ik, carbohydrate deficient glycoprotein syndrome type Ik", "ALG1-CDG", "ALG1-CDG", "MONDO:0012052", "Q921Q3", "2384774", "Alg1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2384774" ], [ "Q2TAA5-1", "ALG11", "CDG-Ip, Congenital Disorder of Glycosylation, Type Ip", "ALG11-CDG", "ALG11-CDG", "MONDO:0013349", "Q3TZM9", "2142632", "Alg11", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2142632" ], [ "Q9BV10-1", "ALG12", "Congenital disorder of glycosylation, type Ig, CDG-Ig", "ALG12-CDG", "ALG12-CDG", "MONDO:0011783", "Q8VDB2", "2385025", "Alg12", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2385025" ], [ "Q9NP73-1", "ALG13", "CDG-Is, Congenital Disorder of Glycosylation, Type Is", "ALG13-CDG", "ALG13-CDG", "MONDO:0010472", "Q9D8C3", "1914824", "Alg13", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1914824" ], [ "Q9H553-1", "ALG2", "CDG-Ii, Congenital disorder of glycosylation, type Ii", "ALG2-CDG", "ALG2-CDG", "MONDO:0011933", "Q9DBE8", "1914731", "Alg2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1914731" ], [ "Q92685-1", "ALG3", "CDG-Id, Congenital disorder of glycosylation, type Id", "ALG3-CDG", "ALG3-CDG", "MONDO:0010998", "Q8K2A8", "1098592", "Alg3", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1098592" ], [ "Q9Y672-1", "ALG6", "CDG-Ic, Congenital disorder of glycosylation, type Ic", "ALG6-CDG", "congenital disorder of glycosylation type 1C", "MONDO:0011291", "Q3TAE8", "2444031", "Alg6", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2444031" ], [ "Q9BVK2-1", "ALG8", "Congenital disorder of glycosylation, type Ih, CDG-Ih", "ALG8-CDG", "ALG8-CDG", "MONDO:0011969", "Q6P8H8", "2141959", "Alg8", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2141959" ], [ "Q9H6U8-1", "ALG9", "CDG-IL, Congenital disorder of glycosylation, type IL", "ALG9-CDG", "ALG9-CDG", "MONDO:0012117", "Q8VDI9", "1924753", "Alg9", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1924753" ], [ "Q15904-1", "ATP6AP1", "immunodeficiency 47, IMD47immunodeficiency type 47, primary immunodeficiency disease caused by mutation in ATP6AP1, immunodeficiency 47, IMD47, ATP6AP1 primary immunodeficiency disease", "ATP6AP1-CDG", "immunodeficiency 47", "MONDO:0010504", "Q9R1Q9", "109629", "Atp6ap1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:109629" ], [ "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", "Q9CYN9", "1917745", "Atp6ap2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1917745" ], [ "P38606-1", "ATP6V1A", "cutis laxa, autosomal recessive, type IID, ARCL2D, autosomal recessive cutis laxa type IID, cutis laxa, autosomal recessive, type 2D", "ATP6V1A-CDG", "autosomal recessive cutis laxa type 2d", "MONDO:0027451", "P50516", "1201780", "Atp6v1a", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1201780" ], [ "P36543-1", "ATP6V1E1", "autosomal recessive cutis laxa type IIC, ARCL2C, cutis laxa, autosomal recessive, type 2C, cutis laxa, autosomal recessive, type IIC, ARCL2C", "ATP6V1E1-CDG", "autosomal recessive cutis laxa type 2c", "MONDO:0027462", "P50518", "894326", "Atp6v1e1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:894326" ], [ "Q9Y487-1", "ATP6V0A2", "V-ATPase a2 subunit defect, Debre-Type cutis laxa, Cutis laxa, autosomal recessive, type IIA (ARCL2A), ATP6VOA2 defect (cutis laxa type II)", "ATP6VOA2-CDG", "Autosomal recessive cutis laxa type 2A", "MONDO:0018163", "P15920", "104855", "Atp6v0a2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:104855" ], [ "Q8NCR0-1", "B3GALNT2", "Congenital muscular dystrophy (MDDGA11)muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, B3GALNT2 muscular dystrophy-dystroglycanopathy, type A, muscular 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", "Q8BG28", "2145517", "B3galnt2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2145517" ], [ "Q6Y288-1", "B3GLCT", "Peters-plus syndrome, Krause-Kivlin syndrome, Peters anomaly with short limb dwarfism", "B3GALTL-CDG", "ALG13-CDG", "MONDO:0009856", "Q8BHT6", "2685903", "B3glct", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2685903" ], [ "O94766-1", "B3GAT3", "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "B3GAT3-CDG", "Larsen-like syndrome, B3GAT3 type", "MONDO:0009511", "P58158", "1919977", "B3gat3", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1919977" ], [ "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", "Q8BHT6", "2685903", "B3glct", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2685903" ], [ "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", "Q09200", "1342057", "B4galnt1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1342057" ], [ "P15291-1", "B4GALT1", "CDG-IId, Congenital disorder of glycosylation, type IId", "B4GALT1-CDG", "B4GALT1-CDG", "MONDO:0011772", "P15535", "95705", "B4galt1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:95705" ], [ "Q9UBV7-1", "B4GALT7", "Ehlers-Danlos syndrome, progeroid form, Ehlers-Danlos syndrome, progeroid type, 1, Galactosyltransferase 1 deficiency", "B4GALT7-CDG", "Ehlers-Danlos syndrome progeroid type", "MONDO:0007526", "Q8R087", "2384987", "B4galt7", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2384987" ], [ "O43505-1", "B4GAT1", "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, MDDGA13", "B4GAT1-CDG", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", "MONDO:0014120", "Q8BWP8", "1919680", "B4gat1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1919680" ], [ "P27708-1", "CAD", "epileptic encephalopathy, early infantile, 50, congenital disorder of glycosylation, type Iz, formerly, epileptic encephalopathy, early infantile, 50, EIEE50, congenital disorder of glycosylation, type Iz, EIEE50, congenital disorder of glycosylation, type Iz, CDG1Z", "CAD-CDG", "CAD-CDG", "MONDO:0014647", "B2RQC6", "1916969", "Cad", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1916969" ], [ "Q96NT0-1", "CCDC115", "carbohydrate deficient glycoprotein syndrome type IIo, CDG-IIo, CDG syndrome type IIo, CDG2O, congenital disorder of glycosylation type IIo, congenital disorder of glycosylation, type IIo, congenital disorder of glycosylation type 2o", "CCDC115-CDG", "CCDC115-CDG", "MONDO:0014789", "Q8VE99", "1916918", "Ccdc115", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1916918" ], [ "Q7LGC8-1", "CHST3", "chondrodysplasia with multiple dislocations, Kozlowski Celermajer tink syndrome, SDCD, CHST3 type, CHST3-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", "O88199", "1858224", "Chst3", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1858224" ], [ "Q8WTW3-1", "COG1", "Congenital disorder of glycosylation, type IIg, CDGII/COG1 Cerebrocostomandibular-like syndrome, CDG-IIg, COG1 deficiency", "COG1-CDG", "COG1-CDG", "MONDO:0012637", "Q9Z160", "1333873", "Cog1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1333873" ], [ "Q14746-1", "COG2", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq, CDG2Q", "COG2-CDG", "congenital disorder of glycosylation, type IIq", "MONDO:0054559", "Q921L5", "1923582", "Cog2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1923582" ], [ "Q9H9E3-1", "COG4", "Congenital disorder of glycosylation, type IIj, CDG-IIj", "COG4-CDG", "COG4-CDG", "MONDO:0013281", "Q8R1U1", "2142808", "Cog4", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2142808" ], [ "Q9UP83-1", "COG5", "Congenital disorder of glycosylation, type IIi, CDG-IIi", "COG5-CDG", "COG5-CDG", "MONDO:0013325", "Q8C0L8", "2145130", "Cog5", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2145130" ], [ "Q9Y2V7-1", "COG6", "CDG-IIL, Congenital Disorder of Glycosylation, Type IIL", "COG6-CDG", "COG6-CGD", "MONDO:0013810", "Q8R3I3", "1914792", "Cog6", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1914792" ], [ "P83436-1", "COG7", "Congenital disorder of glycosylation, type IIe, CDG-IIe", "COG7-CDG", "COG7-CDG", "MONDO:0012118", "Q3UM29", "2685013", "Cog7", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2685013" ], [ "Q96MW5-1", "COG8", "CDG-IIh, COG8 deficiency, Congenital disorder of glycosylation, type IIh", "COG8-CDG", "COG8-CDG", "MONDO:0012635", "Q9JJA2", "2142885", "Cog8", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2142885" ], [ "P39656-1", "DDOST", "Congenital Disorder of Glycosylation, Type Ir, CDG-Ir", "DDOST-CDG", "DDOST-CDG", "MONDO:0013789", "O54734", "1194508", "Ddost", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1194508" ], [ "Q9UPQ8-1", "DOLK", "CDG-Im, DK1-CDG, Dolichol kinase deficiency, Congenital disorder of glycosylation, type Im, DK1 deficiency", "DOLK-CDG", "congenital disorder of glycosylation type I", "MONDO:0012556", "Q8R2Y3", "2677836", "Dolk", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2677836" ], [ "Q9H3H5-1", "DPAGT1", "CDG-Ij, Congenital disorder of glycosylation, type Ij", "DPAGT1-CDG", "DPAGT1-CDG", "MONDO:0011964", "P42867", "1196396", "Dpagt1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1196396" ], [ "O60762-1", "DPM1", "CDG-Ie, Congenital disorder of glycosylation, type Ie", "DPM1-CDG", "congenital disorder of glycosylation type 1E", "MONDO:0012123", "O70152", "1330239", "Dpm1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1330239" ], [ "O94777-1", "DPM2", "CDG-Iu, CDG syndrome type Iu, carbohydrate deficient glycoprotein syndrome type Iu,congenital disorder of glycosylation type 1u, DPM2-CDG, CDG1U, CMD with intellectual disability and severe epilepsy, congenital disorder of glycosylation type Iu", "DMP2-CDG", "congenital muscular dystrophy with intellectual disability and severe epilepsy", "MONDO:0014023", "Q9Z324", "1330238", "Dpm2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1330238" ], [ "Q9P2X0-1", "DPM3", "CDG-Io, Congenital Disorder of Glycosylation, Type Io", "DPM3-CDG", "DPM3-CDG", "MONDO:0013049", "Q9D1Q4", "1915813", "Dpm3", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1915813" ], [ "Q16394-1", "EXT1", "Hereditary multiple osteochondromas (HMO), Hereditary multiple exostoses (HME), Multiple cartilaginous exostoses, Exostoses, multiple, type 2, Exostoses, multiple, type 1", "EXT1/EXT2-CDG", "Hereditary multiple osteochondromas", "MONDO:0005508", "P97464", "894663", "Ext1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:894663" ], [ "Q93063-1", "EXT2", "Hereditary multiple osteochondromas (HMO), Hereditary multiple exostoses (HME), Multiple cartilaginous exostoses, Exostoses, multiple, type 2, Exostoses, multiple, type 1", "EXT1/EXT2-CDG", "Hereditary multiple osteochondromas", "MONDO:0005508", "P70428", "108050", "Ext2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:108050" ], [ "Q9BYC5-1", "FUT8", "CONGENITAL DISORDER OF glycosylation with defective fucosylation, CDGF, CDGF", "FUT8-CDG", "congenital disorder of glycosylation with defective fucosylation", "MONDO:0060720", "Q9WTS2", "1858901", "Fut8", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1858901" ], [ "Q14435-1", "GALNT3", "Tumoral calcinosis, hyperphosphatemic, familial", "GALNT3-CDG", "hyperphosphatemic familial tumoral calcinosis", "MONDO:0008897", "P70419", "894695", "Galnt3", "http://www.informatics.jax.org/allele/summary?markerId=MGI:894695" ], [ "Q14697-1", "GANAB", "polycystic kidney disease type 3, Apkd3, GANAB autosomal dominant polycystic kidney disease, polycystic kidney disease, adult, type III, polycystic kidney disease 3, autosomal dominant polycystic kidney disease caused by mutation in GANAB, Pkd3", "GANAB-CDG", "polycystic kidney disease 3", "MONDO:0010916", "Q8BHN3", "1097667", "Ganab", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1097667" ], [ "Q96IJ6-1", "GMPPA", "GMPPA-CDG, alacrima, achalasia, and mental retardation syndrome, AAMR, AAMR", "GMPPA-CDG", "alacrima, achalasia, and mental retardation syndrome", "MONDO:0014219", "Q922H4", "1916330", "Gmppa", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1916330" ], [ "A4D126-1", "ISPD", "ISPD muscular dystrophy-dystroglycanopathy, type A, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7, muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD", "ISPD-CDG", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7", "MONDO:0013835", "Q5RJG7", "1923097", "Ispd", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1923097" ], [ "O95461-1", "LARGE1", "Congenital muscular dystrophy type 1D (CMD1D), Muscular dystrophy, congenital, type 1D (MDC1D), Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6)", "LARGE-CDG (cong. muscular dystrophy spectrum)", "muscular dystrophy-dystroglycanopathy type B6", "MONDO:0012138", "Q9Z1M7", "1342270", "Large1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1342270" ], [ "Q8NES3-1", "LFNG", "Spondylocostal dysostosis 3, autosomal recessive, SCDO3", "LFNG-CDG", "spondylocostal dysostosis 3, autosomal recessive", "MONDO:0012349", "O09010", "1095413", "Lfng", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1095413" ], [ "Q10469-1", "MGAT2", "Congenital disorder of glycosylation, type IIa, CDG-IIa", "MGAT2-CDG", "MGAT2-CDG", "MONDO:0008908", "Q921V5", "2384966", "Mgat2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2384966" ], [ "Q13724-1", "MOGS", "Congenital disorder of glycosylation, type IIb, CDG-IIb, MOGS-CDG", "GCS1-CDG", "MOGS-CDG", "MONDO:0011629", "Q80UM7", "1929872", "Mogs", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1929872" ], [ "O75352-1", "MPDU1", "Congenital disorder of glycosylation, type If, CDG-If", "MPDU1-CDG", "MPDU1-CDG", "MONDO:0012211", "Q9R0Q9", "1346040", "Mpdu1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1346040" ], [ "P34949-1", "MPI", "Mannosephosphate isomerase deficiency, CDG-Ib, Congenital disorder of glycosylation, type Ib, Saguenay-Lac Saint-Jean syndrome, Protein-losing enteropathy-hepatic fibrosis syndrome", "MPI-CDG", "MPI-CDG", "MONDO:0011257", "Q924M7", "97075", "Mpi", "http://www.informatics.jax.org/allele/summary?markerId=MGI:97075" ], [ "Q9NR45-1", "NANS", "Nans deficiency, spondyloepimetaphyseal dysplasia Genevieve type, SEMD, Genevieve type, SEMD Genevieve type, spondyloepimetaphyseal dysplasia, Genevieve type, spondyloepimetaphyseal dysplasia, Genevi\u00e8ve type, spondyloepimetaphyseal dysplasia, Genevieve type, SEMDG", "NANS-CDG", "spondyloepimetaphyseal dysplasia, Genevieve type", "MONDO:0012495", "Q99J77", "2149820", "Nans", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2149820" ], [ "Q96E22-1", "NUS1", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa, CDG1AA", "NUS1-CDG", "congenital disorder of glycosylation, type IAA; CDG1AA", "MONDO:0014904", "Q99LJ8", "1196365", "Nus1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1196365" ], [ "Q75T13-1", "PGAP1", "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, MRT42PGAP1 autosomal recessive non-syndromic intellectual disability, autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1, mental retardation, autosomal recessive type 42", "PGAP1-CDG", "intellectual disability, autosomal recessive 42", "MONDO:0014348", "Q3UUQ7", "2443342", "Pgap1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2443342" ], [ "Q96FM1-1", "PGAP3", "HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, HPMRS4hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3, PGAP3 hyperphosphatasia-intellectual disability syndrome, hyperphosphatasia with mental retardation syndrome type 4, hyperphosphatasia with mental retardation syndrome 4", "PGAP3-CDG", "hyperphosphatasia with intellectual disability syndrome 4", "MONDO:0014318", "A2A559", "2444461", "Pgap3", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2444461" ], [ "P36871-1", "PGM1", "CDG-It, Congenital Disorder of Glycosylation, Type It", "", "PGM1-CDG", "MONDO:0013968", "Q9D0F9", "97565", "Pgm1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:97565" ], [ "O95394-1", "PGM3", "mmunodeficiency-vasculitis-myoclonus syndrome, immunodeficiency 23, immunodeficiency 23, IMD23, phosphoglucomutase 3 deficiency, IMD23, immunodeficiency with hyper IgE and cognitive impairment, phosphoglucomutase deficiency type 3", "PGM3-CDG", "PGM3-CDG", "MONDO:0014353", "Q9CYR6", "97566", "Pgm3", "http://www.informatics.jax.org/allele/summary?markerId=MGI:97566" ], [ "Q92535-1", "PIGC", "GPIBD16, glycosylphosphatidylinositol biosynthesis defect 16, GPIBD16, mental retardation, autosomal recessive 62", "PIGC-CDG", "glycosylphosphatidylinositol biosynthesis defect 16", "MONDO:0040500", "Q9CXR4", "1914542", "Pigc", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1914542" ], [ "Q5H8A4-1", "PIGG", "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MRT53early-onset epilepsy-intellectual disability-brain anomalies syndrome, glycosylphosphatidylinositol biosynthesis defect 13, GPIBD13, PIGG-CDG, congenital disorder of glycosylation due to PIGG deficiency, mental retardation, autosomal recessive type 53, MRT53, mental retardation, autosomal recessive 53", "PIGG-CDG", "intellectual disability, autosomal recessive 53", "MONDO:0014832", "D3Z3Y1", "3576484", "Pigg", "http://www.informatics.jax.org/allele/summary?markerId=MGI:3576484" ], [ "Q14442-1", "PIGH", "glycosylphosphatidylinositol biosynthesis defect 17, GPIBD17, GPIBD17", "PIGH-CDG", "glycosylphosphatidylinositol biosynthesis defect 17", "MONDO:0060724", "Q5M9N4", "99463", "Pigh", "http://www.informatics.jax.org/allele/summary?markerId=MGI:99463" ], [ "Q9Y2B2-1", "PIGL", "CHIME syndrome, Zunich-Kaye syndrome, PIGL-CDG, congenital disorder of glycosylation due to PIGL deficiency, neuroectodermal dysplasia, CHIME type, coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome, neuroectodermal syndrome, Zunich type", "PIGL-CDG", "CHIME syndrome", "MONDO:0010221", "Q5SX19", "2681271", "Pigl", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2681271" ], [ "Q9H3S5-1", "PIGM", "Autosomal recessive GPI anchor deficiency, Glycosylphosphatidylinositol deficiency", "PIGM-CDG", "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency", "MONDO:0012465", "Q8C2R7", "1914806", "Pigm", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1914806" ], [ "Q8TEQ8-1", "PIGO", "PIGO hyperphosphatasia-intellectual disability syndrome, hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO, hyperphosphatasia with mental retardation syndrome 2, hyperphosphatasia with mental retardation syndrome type 2", "PIGO-CDG", "hyperphosphatasia with intellectual disability syndrome 2", "MONDO:0013882", "Q9JJI6", "1861452", "Pigo", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1861452" ], [ "P57054-1", "PIGP", "epileptic encephalopathy, early infantile, 55, EIEE55, glycosylphosphatidylinositol biosynthesis defect 14, EIEE55, infantile epileptic encephalopathy 55", "PIGP-CDG", "epileptic encephalopathy, early infantile, 55", "MONDO:0033364", "Q9JHG1", "1860433", "Pigp", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1860433" ], [ "Q969N2-1", "PIGT", "MCAHS type 3, multiple congenital anomalies-hypotonia-seizures syndrome type 3, multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT, congenital disorder of glycosylation due to PIGT deficiency, PIGT-CDG, multiple congenital anomalies-hypotonia-seizures syndrome 3, PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "PIGT-CDG", "multiple congenital anomalies-hypotonia-seizures syndrome 3", "MONDO:0014165", "Q8BXQ2", "1926178", "Pigt", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1926178" ], [ "Q969N2-1", "PIGT", "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT, paroxysmal nocturnal hemoglobinuria 2, PIGT paroxysmal nocturnal hemoglobinuria, paroxysmal nocturnal hemoglobinuria type 2", "PIGT-CDG", "paroxysmal nocturnal hemoglobinuria 2", "MONDO:0014166", "Q8BXQ2", "1926178", "Pigt", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1926178" ], [ "Q7Z7B1-1", "PIGW", "hyperphosphatasia with mental retardation syndrome type 5, hyperphosphatasia with mental retardation syndrome 5, PIGW hyperphosphatasia-intellectual disability syndrome, hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGWGLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11, GPIBD11", "PIGW-CDG", "hyperphosphatasia with intellectual disability syndrome 5", "MONDO:0014457", "Q8C398", "1917575", "Pigw", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1917575" ], [ "Q3MUY2-1", "PIGY", "hyperphosphatasia with mental retardation syndrome type 6, HPMRS6, hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY, PIGY hyperphosphatasia-intellectual disability syndrome, hyperphosphatasia with mental retardation syndrome 6", "PIGY-CDG", "hyperphosphatasia with intellectual disability syndrome 6; HPMRS6", "MONDO:0014780", "P0C1P0", "1913518", "Pigy", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1913518" ], [ "O15305-1", "PMM2", "Congenital disorder of glycosylation, type Ia, Jaeken syndrome, CDG-Ia, Phosphomannomutase 2 deficiency", "PMM2-CDG", "PMM2-CDG", "MONDO:0008907", "Q9Z2M7", "1859214", "Pmm2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1859214" ], [ "Q9H488-1", "POFUT1", "Dowling-Degos disease type 2, Dowling-Degos disease caused by mutation in POFUT1, POFUT1 Dowling-Degos disease, Dowling-Degos disease 2", "POFUT1-CDG", "Dowling-Degos disease 2", "MONDO:0014130", "Q91ZW2", "2153207", "Pofut1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2153207" ], [ "Q8NBL1-1", "POGLUT1", "POGLUT1 Dowling-Degos disease, Dowling-Degos disease type 4, Dowling-Degos disease caused by mutation in POGLUT1, Dowling-Degos disease 4", "POGLUT1-CDG", "Dowling-Degos disease 4", "MONDO:0014307", "Q8BYB9", "2444232", "Poglut1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2444232" ], [ "Q8WZA1-1", "POMGNT1", "Muscle-eye-brain disease (MEB), Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 3 (MDDGA3)", "POMGNT1-CDG (cong. muscular dystrophy spectrum)", "congenital muscular dystrophy with intellectual disability and severe epilepsy", "MONDO:0014023", "Q91X88", "1915523", "Pomgnt1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1915523" ], [ "Q8NAT1-1", "POMGNT2", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8, muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2, POMGNT2 muscular dystrophy-dystroglycanopathy, type A", "POMGNT2-CDG", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8", "MONDO:0013904", "Q8BW41", "2143424", "Pomgnt2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2143424" ], [ "Q8NAT1-1", "POMGNT2", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 24, LGMDR24MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED,MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 24, LGMDR24MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED", "POMGNT2-CDG", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8", "MONDO:0029135", "Q8BW41", "2143424", "Pomgnt2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2143424" ], [ "Q9H5K3-1", "POMK", "LGMD due to POMK deficiency, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, MDDGC12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED", "POMK-CDG", "limb-girdle muscular dystrophy due to POMK deficiency", "MONDO:0014489", "Q3TUA9", "1921903", "Pomk", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1921903" ], [ "Q9H5K3-1", "POMK", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12, muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK, POMK muscular dystrophy-dystroglycanopathy, type A", "POMK-CDG", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "MONDO:0014101", "Q3TUA9", "1921903", "Pomk", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1921903" ], [ "Q9Y6A1-1", "POMT1", "Walker-Warburg syndrome (WWS), Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1), Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2)", "POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)", "congenital muscular dystrophy with intellectual disability and severe epilepsy", "MONDO:0014023", "Q8R2R1", "2138994", "Pomt1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2138994" ], [ "Q9UKY4-1", "POMT2", "Walker-Warburg syndrome (WWS), Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1), Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2)", "POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)", "congenital muscular dystrophy with intellectual disability and severe epilepsy", "MONDO:0014023", "Q8BGQ4", "2444430", "Pomt2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2444430" ], [ "P14314-1", "PRKCSH", "ADPCLD, isolated congenital polycystic liver disease, autosomal dominant polycystic liver disease, nonsyndromic polycystic liver disease (disease), nonsyndromic congenital polycystic liver disease, PCLD", "PRKCSH-CDG", "isolated polycystic liver disease", "MONDO:0008265", "O08795", "107877", "Prkcsh", "http://www.informatics.jax.org/allele/summary?markerId=MGI:107877" ], [ "P78382-1", "SLC35A1", "Congenital disorder of glycosylation, type IIf, CDG-IIf", "SLC35A1-CDG", "SLC35A1-CDG", "MONDO:0011342", "Q61420", "1345622", "Slc35a1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1345622" ], [ "P78381-1", "SLC35A2", "CDG syndrome type IIm, CDG2M, congenital disorder of glycosylation type 2m, congenital disorder of glycosylation type IIm, CDG-IIm", "SLC35A2-CDG", "SLC35A2-CDG", "MONDO:0010478", "Q9R0M8", "1345297", "Slc35a2", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1345297" ], [ "Q9Y2D2-1", "SLC35A3", "ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, AMRS", "SLC35A3-CDG", "autism spectrum disorder - epilepsy - arthrogryposis syndrome", "MONDO:0014248", "Q8R1T4", "1917648", "Slc35a3", "http://www.informatics.jax.org/allele/summary?markerId=MGI:1917648" ], [ "Q96A29-1", "SLC35C1", "Congenital disorder of glycosylation, type IIc, CDG-IIc, Rambam Hasharon syndrome, Leukocyte adhesion deficiency, type 2", "SLC35C1-CDG", "leukocyte adhesion deficiency type II", "MONDO:0009953", "Q8BLX4", "2443301", "Slc35c1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2443301" ], [ "Q9NTN3-1", "SLC35D1", "Schneckenbecken dysplasia, Chondrodysplasia, lethal neonatal, with snail-like pelvis", "SLC35D1-CDG", "schneckenbecken dysplasia", "MONDO:0010013", "A2AKQ0", "2140361", "Slc35d1", "http://www.informatics.jax.org/allele/summary?markerId=MGI:2140361" ] ] }, "readme": "Name\n - Human Congenital Disorders of Glycosylation\n\nVersion\n - 1.5.30\n\nCreated on\n - 2019-09-06T14:06:38.958276\n\nModified on\n - 2020-04-10T11:43:57.908911\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 - Jeet Vora [jeetvora@gwu.edu], Jean-Philippe Gourdine [gourdine@ohsu.edu], Melissa Haendel [haendel@ohsu.edu], Cynthia Smith [cynthia.Smith@jax.org]\n\nChecksum\n - \n\nUsability Domain\n - The Human Congenital Disorders of Glycosylation dataset contains a list of congenital disorders of glycosylation mapped to human [taxid:9606] UniProtKB accessions. The dataset also contains mouse orthologs and links to phenotype page on MGI. If you use this dataset please provide proper attribution to Monarch Initiative and GlyGen\n\nDescription Domain\n Keywords\n - congenital disorders of glycosylation\n - MGI\n - Monarch Initiative\n - phenotype\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_cdg_disease.csv\n URI: https://data.glygen.org/ln2wwwdata/compiled/human_protein_cdg_disease.csv\n Name: human_protein_masterlist.csv\n URI: https://data.glygen.org/ln2wwwdata/reviewed/human_protein_masterlist.csv\n Output Subdomain\n Name: human_protein_cdg_disease.csv\n URI: http://data.glygen.org/ln2wwwdata/reviewed/human_protein_cdg_disease.csv\n Name: human_protein_cdg_disease.stat.csv\n URI: http://data.glygen.org/ln2wwwdata/reviewed/human_protein_cdg_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: \"96\"\n Name: \"mgi_id\"\n Description: \"Mouse Genome Informatics (MGI) identifier\"\n Unique Values: \"96\"\n Name: \"mgi_allele_summary_link\"\n Description: \"The link to the allele summary page for a given identifier in MGI\"\n Unique Values: \"96\"\n Name: \"mondo_disease_label\"\n Description: \"The disease name in Mondo Disease Ontology (MONDO)\"\n Unique Values: \"95\"\n Name: \"gene_symbol_mouse\"\n Description: \"The gene symbol assigned to mouse genes\"\n Unique Values: \"96\"\n Name: \"disease_aliases\"\n Description: \"NAThe alternative names given to a disease\"\n Unique Values: \"98\"\n Name: \"gene_symbol_human\"\n Description: \"The gene symbol assigned to a human genes\"\n Unique Values: \"96\"\n Name: \"uniprotkb_ac_mouse\"\n Description: \"The UniProtKB accession assigned to mouse proteins\"\n Unique Values: \"96\"\n Name: \"disease_name\"\n Description: \"Disease name from Genomics England\"\n Unique Values: \"95\"\n Name: \"mondo_id\"\n Description: \"The Mondo Disease Ontology (MONDO) identifier\"\n Unique Values: \"95\"", "downloadurl": "/ln2data/releases/data/v-1.5.30/reviewed/human_protein_cdg_disease.csv" }