{ "url": "https://dantelabs.com/no/genes/gaa", "gene": { "slug": "gaa", "symbol": "GAA", "name": "alpha glucosidase", "hgnc": "HGNC:4065", "summary": null, "location": "17q25.3", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000171298", "entrezId": 2548, "omim": [ "606800" ], "uniprot": [ "P10253" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 80101581, "end": 80119881, "strand": "+", "ensemblTranscript": "ENST00000302262.8", "refseqTranscript": "NM_000152.5", "ensemblProtein": "ENSP00000305692.3", "refseqProtein": "NP_000143.2", "exons": [ { "start": 80101581, "end": 80101890 }, { "start": 80104555, "end": 80105132 }, { "start": 80105749, "end": 80105894 }, { "start": 80107557, "end": 80107722 }, { "start": 80107800, "end": 80107896 }, { "start": 80108290, "end": 80108409 }, { "start": 80108489, "end": 80108607 }, { "start": 80108697, "end": 80108828 }, { "start": 80109945, "end": 80110055 }, { "start": 80110727, "end": 80110840 }, { "start": 80110941, "end": 80111025 }, { "start": 80111983, "end": 80112100 }, { "start": 80112578, "end": 80112711 }, { "start": 80112876, "end": 80113027 }, { "start": 80113218, "end": 80113366 }, { "start": 80116968, "end": 80117109 }, { "start": 80117600, "end": 80117749 }, { "start": 80118193, "end": 80118357 }, { "start": 80118653, "end": 80118805 }, { "start": 80119272, "end": 80119881 } ], "cds": { "start": 80104587, "end": 80119331 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 78075355, "end": 78093678, "strand": "+" }, "neighbourhood": { "release": "116", "start": 79610731, "end": 80610730, "genes": [ { "symbol": "RBFOX3", "ensemblId": "ENSG00000167281", "biotype": "protein_coding", "start": 79089345, "end": 79611317, "strand": "-", "slug": "rbfox3" }, { "symbol": "ENPP7", "ensemblId": "ENSG00000182156", "biotype": "protein_coding", "start": 79728809, "end": 79742930, "strand": "+", "slug": "enpp7" }, { "symbol": "CBX2", "ensemblId": "ENSG00000173894", "biotype": "protein_coding", "start": 79778135, "end": 79788394, "strand": "+", "slug": "cbx2" }, { "symbol": "CBX8", "ensemblId": "ENSG00000141570", "biotype": "protein_coding", "start": 79792132, "end": 79801683, "strand": "-", "slug": "cbx8" }, { "symbol": "CBX4", "ensemblId": "ENSG00000141582", "biotype": "protein_coding", "start": 79833156, "end": 79839486, "strand": "-", "slug": "cbx4" }, { "symbol": "TBC1D16", "ensemblId": "ENSG00000167291", "biotype": "protein_coding", "start": 79932343, "end": 80035887, "strand": "-", "slug": "tbc1d16" }, { "symbol": "CCDC40", "ensemblId": "ENSG00000141519", "biotype": "protein_coding", "start": 80036000, "end": 80100613, "strand": "+", "slug": "ccdc40" }, { "symbol": "EIF4A3", "ensemblId": "ENSG00000141543", "biotype": "protein_coding", "start": 80132700, "end": 80147151, "strand": "-", "slug": "eif4a3" }, { "symbol": "CARD14", "ensemblId": "ENSG00000141527", "biotype": "protein_coding", "start": 80169992, "end": 80216073, "strand": "+", "slug": "card14" }, { "symbol": "SGSH", "ensemblId": "ENSG00000181523", "biotype": "protein_coding", "start": 80206716, "end": 80220928, "strand": "-", "slug": "sgsh" }, { "symbol": "SLC26A11", "ensemblId": "ENSG00000181045", "biotype": "protein_coding", "start": 80219699, "end": 80253509, "strand": "+", "slug": "slc26a11" }, { "symbol": "RNF213", "ensemblId": "ENSG00000173821", "biotype": "protein_coding", "start": 80260807, "end": 80398794, "strand": "+", "slug": "rnf213" }, { "symbol": "ENDOV", "ensemblId": "ENSG00000173818", "biotype": "protein_coding", "start": 80415147, "end": 80438086, "strand": "+", "slug": "endov" }, { "symbol": "NPTX1", "ensemblId": "ENSG00000171246", "biotype": "protein_coding", "start": 80466834, "end": 80477843, "strand": "-", "slug": "nptx1" }, { "symbol": "RPTOR", "ensemblId": "ENSG00000141564", "biotype": "protein_coding", "start": 80544819, "end": 80966371, "strand": "+", "slug": "rptor" }, { "symbol": "", "ensemblId": "ENSG00000289764", "biotype": "protein_coding", "start": 80545075, "end": 80545134, "strand": "+" } ], "truncated": false }, "reports": [ { "slug": "pompe-disease", "name": "Pompes sykdom", "diseases": [ { "mondoId": "MONDO:0009290", "name": "Pompes sykdom (glykogenlagringssykdom type II)", "genes": 1, "inheritance": "autosomal-recessive", "description": "Glykogenlagringssykdom på grunn av syre maltasemangel (AMD) er et autosomalt recessivt trekk som fører til metabolisk myopati som rammer hjerte- og respirasjonsmuskulatur i tillegg til skjelettmuskulatur og andre vev. AMD omfatter et bredt spekter av kliniske presentasjoner, forårsaket av opphopning av glykogen i lysosomer: Glykogenlagringssykdom på grunn av syre maltasemangel med debut i spedbarnsalderen, ikke-klassisk debut i spedbarnsalderen og debut i voksen alder. Former med tidlig debut er mer alvorlige og ofte dødelige.", "management": "Enzymerstatningsbehandling (alglukosidase alfa; cipaglukosidase alfa + miglustat, overlegen ved senbegynt sykdom); respiratorisk støtte (BiPAP/CPAP/mekanisk ventilasjon); fysioterapi; genterapi i kliniske studier", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/no/conditions/pompe-disease" }, { "slug": "lysosomal-storage-disease", "name": "Lysosomal lagringssykdom", "diseases": [ { "mondoId": "MONDO:0002561", "name": "Lysosomal lagringssykdom (andre og uspesifiserte typer)", "genes": 59, "inheritance": null, "description": "Dekker lysosomale lagringssykdommer uten egen rapport, som Farber-sykdom og andre ASAH1-relaterte sykdommer, mangel på prosaposin (PSAP), multippel sulfatasemangel, mukopolysakkaridose type IX og X, og Dorfman-Chanarin-sykdom; arvegangen varierer mellom undertypene, oftest autosomal recessiv.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/no/conditions/lysosomal-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-circulating-enzyme-concentration-or-activity", "name": "Abnormal circulating enzyme concentration or activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity" }, { "slug": "abnormal-cns-myelination", "name": "Abnormal CNS myelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-cns-myelination" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "macroglossia", "name": "Abnormally large tongue", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macroglossia" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "dilatation-of-the-cerebral-artery", "name": "Brain aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "facial-hypotonia", "name": "Decreased facial muscle tone", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/facial-hypotonia" }, { "slug": "respiratory-insufficiency-due-to-muscle-weakness", "name": "Decreased lung function due to weak breathing muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness" }, { "slug": "floppy-infant", "name": "Decreased muscle tone in infant", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/floppy-infant" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "delayed-ability-to-sit", "name": "Delayed ability to sit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/delayed-ability-to-sit" }, { "slug": "delayed-ability-to-stand", "name": "Delayed ability to stand", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/delayed-ability-to-stand" }, { "slug": "diaphragmatic-paralysis", "name": "Diaphragmatic paralysis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/diaphragmatic-paralysis" }, { "slug": "difficulty-descending-stairs", "name": "Difficulty descending stairs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/difficulty-descending-stairs" }, { "slug": "difficulty-climbing-stairs", "name": "Difficulty walking up stairs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/difficulty-climbing-stairs" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "elevated-circulating-alanine-aminotransferase-concentration", "name": "Elevated circulating alanine aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration" }, { "slug": "elevated-circulating-aspartate-aminotransferase-concentration", "name": "Elevated circulating aspartate aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration" }, { "slug": "elevated-circulating-ck-mb-concentration", "name": "Elevated circulating CK-MB concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-ck-mb-concentration" }, { "slug": "elevated-circulating-nt-probnp-concentration", "name": "Elevated circulating NT-proBNP concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-nt-probnp-concentration" }, { "slug": "elevated-urine-glucose-tetrasaccharide-level", "name": "Elevated urine glucose tetrasaccharide level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/elevated-urine-glucose-tetrasaccharide-level" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "cardiomegaly", "name": "Enlarged heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cardiomegaly" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/fever" }, { "slug": "firm-muscles", "name": "Firm muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/firm-muscles" }, { "slug": "pleural-effusion", "name": "Fluid around lungs", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pleural-effusion" }, { "slug": "generalized-muscle-weakness", "name": "Generalized muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-muscle-weakness" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "heart-murmur", "name": "Heart murmur", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/heart-murmur" }, { "slug": "increased-circulating-lactate-dehydrogenase-concentration", "name": "Increased circulating lactate dehydrogenase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration" }, { "slug": "increased-muscle-glycogen-content", "name": "Increased muscle glycogen content", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-muscle-glycogen-content" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "left-ventricular-hypertrophy", "name": "Left ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy" }, { "slug": "left-ventricular-outflow-tract-obstruction", "name": "Left ventricular outflow tract obstruction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/left-ventricular-outflow-tract-obstruction" }, { "slug": "limb-muscle-weakness", "name": "Limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-muscle-weakness" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-output-congestive-heart-failure", "name": "Low-output congestive heart failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-output-congestive-heart-failure" }, { "slug": "lower-limb-muscle-weakness", "name": "Lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "multifocal-hyperintensity-of-cerebral-white-matter-on-mri", "name": "Multifocal hyperintensity of cerebral white matter on MRI", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/multifocal-hyperintensity-of-cerebral-white-matter-on-mri" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "nonimmune-hydrops-fetalis", "name": "Nonimmune hydrops fetalis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis" }, { "slug": "oligosacchariduria", "name": "Oligosacchariduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/oligosacchariduria" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "reduced-maximal-expiratory-pressure", "name": "Reduced maximal expiratory pressure", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-maximal-expiratory-pressure" }, { "slug": "reduced-maximal-inspiratory-pressure", "name": "Reduced maximal inspiratory pressure", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-maximal-inspiratory-pressure" }, { "slug": "reduced-muscle-alpha-1-4-glucosidase-activity", "name": "Reduced muscle alpha-1,4-glucosidase activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/reduced-muscle-alpha-1-4-glucosidase-activity" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "respiratory-failure-requiring-assisted-ventilation", "name": "Respiratory failure requiring assisted ventilation", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "respiratory-tract-infection", "name": "Respiratory tract infection", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-tract-infection" }, { "slug": "right-axis-deviation", "name": "Right axis deviation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/right-axis-deviation" }, { "slug": "shortened-pr-interval", "name": "Shortened PR interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/shortened-pr-interval" }, { "slug": "sinus-tachycardia", "name": "Sinus tachycardia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sinus-tachycardia" }, { "slug": "subarachnoid-hemorrhage", "name": "Subarachnoid hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage" }, { "slug": "tongue-muscle-weakness", "name": "Tongue muscle weakness", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tongue-muscle-weakness" }, { "slug": "wolff-parkinson-white-syndrome", "name": "Wolff-Parkinson-White syndrome", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/wolff-parkinson-white-syndrome" } ], "related": [ { "slug": "abhd5", "symbol": "ABHD5", "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase", "shared": 1, "url": 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