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"ensemblId": "ENSG00000172208", "biotype": "protein_coding", "start": 48245104, "end": 48246015, "strand": "+", "slug": "or4x2" }, { "symbol": "OR4X1", "ensemblId": "ENSG00000176567", "biotype": "protein_coding", "start": 48263861, "end": 48264778, "strand": "+", "slug": "or4x1" }, { "symbol": "OR4S1", "ensemblId": "ENSG00000176555", "biotype": "protein_coding", "start": 48306223, "end": 48307152, "strand": "+", "slug": "or4s1" } ], "truncated": false }, "reports": [ { "slug": "nephrotic-syndrome", "name": "Zespół nerczycowy", "diseases": [ { "mondoId": "MONDO:0002331", "name": "Nefroza", "genes": 29, "inheritance": null, "description": "Procesy patologiczne NEREK bez składowej zapalnej lub nowotworowej. Nefroza może być pierwotnym schorzeniem lub wtórnym powikłaniem innych chorób. Charakteryzuje się ZESPOŁEM NERCZYCOWYM, wskazującym na obecność BIAŁKOMOCZU i HIPOALBUMINEMII, z towarzyszącym OBRZĘKIEM.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/nephrotic-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "diffuse-mesangial-sclerosis", "name": "Diffuse mesangial sclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "foamy-urine", "name": "Foamy urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foamy-urine" }, { "slug": "focal-segmental-glomerulosclerosis", "name": "Focal segmental glomerulosclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "minimal-change-glomerulonephritis", "name": "Minimal change glomerulonephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/minimal-change-glomerulonephritis" }, { "slug": "periorbital-edema", "name": "Periorbital edema", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/periorbital-edema" }, { "slug": "peritonitis", "name": "Peritonitis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/peritonitis" }, { "slug": "respiratory-tract-infection", "name": "Respiratory tract infection", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-tract-infection" }, { "slug": "stage-3-chronic-kidney-disease", "name": "Stage 3 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stage-3-chronic-kidney-disease" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "steroid-resistant-nephrotic-syndrome", "name": "Steroid-resistant nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/steroid-resistant-nephrotic-syndrome" } ], "related": [ { "slug": "actn4", "symbol": "ACTN4", "name": "actinin alpha 4", "shared": 1, "url": "https://dantelabs.com/pl/genes/actn4" }, { "slug": "arhgdia", "symbol": "ARHGDIA", "name": "Rho GDP dissociation inhibitor alpha", "shared": 1, "url": "https://dantelabs.com/pl/genes/arhgdia" }, { "slug": "coq6", "symbol": "COQ6", "name": "coenzyme Q6, monooxygenase", "shared": 1, "url": "https://dantelabs.com/pl/genes/coq6" }, { "slug": "coq8b", "symbol": "COQ8B", "name": "coenzyme Q8B", "shared": 1, "url": "https://dantelabs.com/pl/genes/coq8b" }, { "slug": "daam2", "symbol": "DAAM2", "name": "dishevelled associated activator of morphogenesis 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/daam2" }, { "slug": "dgke", "symbol": "DGKE", "name": "diacylglycerol kinase epsilon", "shared": 1, "url": "https://dantelabs.com/pl/genes/dgke" }, { "slug": "dlc1", "symbol": "DLC1", "name": "DLC1 Rho GTPase activating protein", "shared": 1, "url": "https://dantelabs.com/pl/genes/dlc1" }, { "slug": "emp2", "symbol": "EMP2", "name": "epithelial membrane protein 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/emp2" }, { "slug": "itsn1", "symbol": "ITSN1", "name": "intersectin 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/itsn1" }, { "slug": "itsn2", "symbol": "ITSN2", "name": "intersectin 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/itsn2" }, { "slug": "kank2", "symbol": "KANK2", "name": "KN motif and ankyrin repeat domains 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/kank2" }, { "slug": "lama5", "symbol": "LAMA5", "name": "laminin subunit alpha 5", "shared": 1, "url": "https://dantelabs.com/pl/genes/lama5" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }