#one block of data for ALG13 { "gene_data": { "alias": [ "MDS031", "YGL047W", "FLJ23018", "TDRD13", "CDG1S" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30881", "gene_name": "ALG13, UDP-N-acetylglucosaminyltransferase subunit", "omim_gene": [ "300776" ], "alias_name": [ "tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase" ], "gene_symbol": "ALG13", "hgnc_symbol": "ALG13", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "X:110909043-111003877", "ensembl_id": "ENSG00000101901" } }, "GRch38": { "90": { "location": "X:111665811-111760649", "ensembl_id": "ENSG00000101901" } } }, "hgnc_date_symbol_changed": "2006-11-07" }, "entity_type": "gene", "entity_name": "ALG13", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "27604308", "22492991", "25732998" ], "evidence": [ "Expert Review Red", "UKGTN", "Radboud University Medical Center, Nijmegen", "Literature", "Emory Genetics Laboratory" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 36 300884", "ALG13-CDG (Disorders of protein N-glycosylation)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 25, "hash_id": "58346b8b8f62036225ca8a7d", "name": "Congenital disorders of glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "Specific metabolic abnormalities", "status": "public", "version": "1.31", "version_created": "2019-08-13T13:28:04.998687Z", "relevant_disorders": [ "Congential disorders of glycosylation" ], "stats": { "number_of_genes": 100, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }