{ "uniprot_canonical_ac": "D3ZI33-1", "uniprot_ac": "D3ZI33", "uniprot_id": "D3ZI33_RAT", "mass": { "chemical_mass": 53468.0, "monoisotopic_mass": 53468.0 }, "refseq": { "ac": "NP_001102137", "name": "ribitol-5-phosphate transferase FKTN", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102137" }, "gene_names": [ { "name": "Fktn", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/D3ZI33", "id": "D3ZI33" }, { "name": "Fcmd", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102137", "id": "NP_001102137" }, { "name": "Fktn", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102137", "id": "NP_001102137" } ], "protein_names": [ { "name": "Ribitol-5-phosphate transferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "D3ZI33" }, { "name": "Fukuyama type congenital muscular dystrophy homolog; Fukuyama type congenital muscular dystrophy (fukutin)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102137", "id": "NP_001102137" }, { "name": "ribitol-5-phosphate transferase FKTN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001102137", "id": "NP_001102137" } ], "function": [], "disease": [ { "disease_id": "DOID:0050559", "recommended_name": { "id": "DOID:0050559", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein." }, "synonyms": [ { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment." }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "FCMD", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Fukuyama congenital muscular dystrophy", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "MDDGA4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscle-eye-brain-FKTN related", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "description": "" }, { "id": "MONDO:0009678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009678", "name": "congenital muscular dystrophy, Fukuyama type", "description": "" }, { "id": "MIM:253800", "resource": "MIM", "url": "https://www.omim.org/entry/253800", "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4", "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4" } ], "evidence": [ { "id": "0050559", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ] }, { "disease_id": "DOID:0050560", "recommended_name": { "id": "DOID:0050560", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050560", "name": "Walker-Warburg syndrome", "description": "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1." }, "synonyms": [ { "id": "DOID:0050560", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050560", "name": "HARD syndrome", "description": "" }, { "id": "DOID:0050560", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050560", "name": "cerebroocular dysplasia-muscular dystrophy syndrome", "description": "" } ], "evidence": [ { "id": "0050560", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050560" } ] }, { "disease_id": "DOID:0050588", "recommended_name": { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase." }, "synonyms": [ { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050588", "name": "CMD due to dystroglycanopathy", "description": "" }, { "id": "DOID:0050588", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050588", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "congenital muscular dystrophy-POMT1 related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "MDDGB1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy, congenital, Pomt1-related", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1", "description": "" }, { "id": "MONDO:0013159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013159", "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1", "description": "" }, { "id": "MIM:613155", "resource": "MIM", "url": "https://www.omim.org/entry/613155", "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1", "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" } ], "evidence": [ { "id": "0050588", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050588" } ] }, { "disease_id": "DOID:0110284", "recommended_name": { "id": "DOID:0110284", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110284", "name": "autosomal recessive limb-girdle muscular dystrophy type 2L", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14." }, "synonyms": [ { "id": "DOID:0110284", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110284", "name": "LGMD2L", "description": "" }, { "id": "DOID:0110284", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110284", "name": "muscular dystrophy, limb-girdle, type 2L", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "autosomal recessive limb-girdle muscular dystrophy type 2L", "description": "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "ANO5 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "LGMD2L", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "muscular dystrophy, limb-girdle, autosomal recessive 12", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "muscular dystrophy, limb-girdle, type 2L", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "limb-girdle muscular dystrophy type 2L", "description": "" }, { "id": "MIM:611307", "resource": "MIM", "url": "https://www.omim.org/entry/611307", "name": "Muscular dystrophy, limb-girdle, autosomal recessive 12", "description": "Muscular dystrophy, limb-girdle, autosomal recessive 12" } ], "evidence": [ { "id": "0110284", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110284" } ] }, { "disease_id": "DOID:0110296", "recommended_name": { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "LGMD2M", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "MDDGC4", "description": "" }, { "id": "DOID:0110296", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110296", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy type 2M", "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "FKTN autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD-FKTN related", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "LGMD2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "MDDGC4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "limb-girdle muscular dystrophy type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy, limb-girdle, type 2M", "description": "" }, { "id": "MONDO:0012699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012699", "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4", "description": "" }, { "id": "MIM:611588", "resource": "MIM", "url": "https://www.omim.org/entry/611588", "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4", "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4" } ], "evidence": [ { "id": "0110296", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110296" } ] }, { "disease_id": "DOID:0110443", "recommended_name": { "id": "DOID:0110443", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110443", "name": "dilated cardiomyopathy 1B", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13." }, "synonyms": [ { "id": "MONDO:0010951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010951", "name": "dilated cardiomyopathy 1B", "description": "A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13." }, { "id": "MONDO:0010951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010951", "name": "cardiomyopathy, dilated 1B", "description": "" }, { "id": "MONDO:0010951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010951", "name": "dilated cardiomyopathy type 1B", "description": "" }, { "id": "MONDO:0010951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010951", "name": "cardiomyopathy, dilated, 1B", "description": "" }, { "id": "MONDO:0010951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010951", "name": "cardiomyopathy, familial dilated", "description": "" }, { "id": "MONDO:0010951", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010951", "name": "cardiomyopathy, familial dilated, 1", "description": "" } ], "evidence": [ { "id": "0110443", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110443" } ] }, { "disease_id": "DOID:0110444", "recommended_name": { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy 1X", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31." }, "synonyms": [ { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110444", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "DOID:0110444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110444", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy 1X", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene." }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "CMD1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "FKTN familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy type 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "dilated cardiomyopathy with mild or no proximal muscle weakness", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "familial isolated dilated cardiomyopathy caused by mutation in FKTN", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, 1X", "description": "" }, { "id": "MONDO:0012704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012704", "name": "cardiomyopathy, dilated, with mild or No proximal muscle weakness", "description": "" }, { "id": "MIM:611615", "resource": "MIM", "url": "https://www.omim.org/entry/611615", "name": "Cardiomyopathy, dilated, 1X", "description": "Cardiomyopathy, dilated, 1X" } ], "evidence": [ { "id": "0110444", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110444" } ] }, { "disease_id": "DOID:0112379", "recommended_name": { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112379", "name": "muscular dystrophy-dystroglycanopathy type B4", "description": "A muscular dystrophy-dystroglycanopathy type B characteried by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2." }, "synonyms": [ { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112379", "name": "MDDGB4", "description": "" }, { "id": "DOID:0112379", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112379", "name": "congenital muscular dystrophy FKTN-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "congenital muscular dystrophy-FKTN related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "MDDGB4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy, congenital, Fktn-related", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4", "description": "" }, { "id": "MONDO:0013156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013156", "name": "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4", "description": "" }, { "id": "MIM:613152", "resource": "MIM", "url": "https://www.omim.org/entry/613152", "name": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4", "description": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4" } ], "evidence": [ { "id": "0112379", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112379" } ] }, { "disease_id": "DOID:9884", "recommended_name": { "id": "DOID:9884", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration." }, "synonyms": [ { "id": "MONDO:0010678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010678", "name": "muscular dystrophy, progressive Pectorodorsal", "description": "" }, { "id": "MONDO:0010678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010678", "name": "muscular dystrophy, progressive Pectorodorsal", "description": "" }, { "id": "MONDO:0010678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010678", "name": "muscular dystrophy, progressive, involving shoulder girdle and back", "description": "" }, { "id": "MONDO:0010884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010884", "name": "muscular dystrophy, scapulohumeral", "description": "" }, { "id": "MONDO:0010884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010884", "name": "muscular dystrophy, scapulohumeral", "description": "" }, { "id": "MONDO:0010676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010676", "name": "muscular dystrophy, Hemizygous lethal type", "description": "" }, { "id": "MONDO:0010676", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010676", "name": "muscular dystrophy, Hemizygous lethal type", "description": "" }, { "id": "MONDO:0010675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010675", "name": "muscular dystrophy, cardiac type", "description": "" }, { "id": "MONDO:0010675", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010675", "name": "muscular dystrophy, cardiac type", "description": "" }, { "id": "MONDO:0010677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010677", "name": "muscular dystrophy, Mabry type", "description": "" }, { "id": "MONDO:0010677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010677", "name": "muscular dystrophy, Mabry type", "description": "" }, { "id": "MONDO:0008028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008028", "name": "muscular dystrophy, Barnes type", "description": "" }, { "id": "MONDO:0008028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008028", "name": "muscular dystrophy, Barnes type", "description": "" }, { "id": "MONDO:0008034", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008034", "name": "muscular dystrophy, pseudohypertrophic, with Internalized capillaries", "description": "" }, { "id": "MONDO:0008034", "resource": "MONDO", "url": 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"go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" }, { "name": "cis-Golgi network", "id": "GO:0005801", "url": 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cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" }, { "name": "cerebellar cortex development", "id": "GO:0021695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021695", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" }, { "name": "regulation of protein binding", "id": "GO:0043393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043393", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" }, { "name": "protein deglycosylation", "id": "GO:0006517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006517", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" }, { "name": "protein O-linked mannosylation", "id": "GO:0035269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035269", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" }, { "name": "basement membrane organization", "id": "GO:0071711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071711", "evidence": [ { "database": "UniProtKB", "id": "D3ZI33", "url": "https://www.uniprot.org/uniprot/D3ZI33" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": 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