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136847994, "end": 136851043, "strand": "+", "slug": "phpt1" }, { "symbol": "MAMDC4", "ensemblId": "ENSG00000177943", "biotype": "protein_coding", "start": 136850943, "end": 136860802, "strand": "+", "slug": "mamdc4" }, { "symbol": "EDF1", "ensemblId": "ENSG00000107223", "biotype": "protein_coding", "start": 136862113, "end": 136866343, "strand": "-", "slug": "edf1" } ], "truncated": false }, "reports": [ { "slug": "chronic-mucocutaneous-candidiasis", "name": "Kronisk mukokutan kandidos", "diseases": [ { "mondoId": "MONDO:0008905", "name": "CARD9-brist", "genes": 1, "inheritance": "autosomal-recessive", "description": "Orsakad av förändringar i genen CARD9 ökar den risken för invasiva svampinfektioner, inklusive svampinfektioner i hjärnan, samt för kroniska Candida-infektioner.", "management": "Tidig diagnos möjliggör antifungal profylax och snabb behandling av svampinfektioner.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/chronic-mucocutaneous-candidiasis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-blood-and-blood-forming-tissues", "name": "Abnormality of blood and blood-forming tissues", "systems": [], "url": "https://dantelabs.com/traits/abnormality-of-blood-and-blood-forming-tissues" }, { "slug": "recurrent-oral-thrush", "name": "Chronic oral thrush", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-oral-thrush" }, { "slug": "chronic-tinea-infection", "name": "Chronic tinea infection", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/chronic-tinea-infection" }, { "slug": "decreased-circulating-iron-concentration", "name": "Decreased circulating iron concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-iron-concentration" }, { "slug": "immunodeficiency", "name": "Decreased immune function", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/immunodeficiency" }, { "slug": "deep-dermatophytosis", "name": "Deep dermatophytosis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/deep-dermatophytosis" }, { "slug": "increased-circulating-ige-concentration", "name": "Increased circulating IgE concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-ige-concentration" }, { "slug": "meningitis", "name": "Meningitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/meningitis" }, { "slug": "phaeohyphomycosis", "name": "Phaeohyphomycosis", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/phaeohyphomycosis" }, { "slug": "recurrent-mucocutaneous-candidiasis", "name": "Recurrent mucocutaneous candidiasis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/recurrent-mucocutaneous-candidiasis" }, { "slug": "severely-increased-total-eosinophil-count", "name": "Severely increased total eosinophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severely-increased-total-eosinophil-count" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "unusual-fungal-nail-infection", "name": "Unusual fungal nail infection", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/unusual-fungal-nail-infection" } ], "related": [], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }