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"+", "slug": "myg1" }, { "symbol": "AAAS", "ensemblId": "ENSG00000094914", "biotype": "protein_coding", "start": 53307456, "end": 53324864, "strand": "-", "slug": "aaas" }, { "symbol": "SP7", "ensemblId": "ENSG00000170374", "biotype": "protein_coding", "start": 53326575, "end": 53345315, "strand": "-", "slug": "sp7" }, { "symbol": "SP1", "ensemblId": "ENSG00000185591", "biotype": "protein_coding", "start": 53380135, "end": 53416446, "strand": "+", "slug": "sp1" }, { "symbol": "AMHR2", "ensemblId": "ENSG00000135409", "biotype": "protein_coding", "start": 53423672, "end": 53431672, "strand": "+", "slug": "amhr2" }, { "symbol": "PRR13", "ensemblId": "ENSG00000205352", "biotype": "protein_coding", "start": 53441308, "end": 53446660, "strand": "+", "slug": "prr13" }, { "symbol": "PCBP2", "ensemblId": "ENSG00000197111", "biotype": "protein_coding", "start": 53451900, "end": 53484618, "strand": "+", "slug": "pcbp2" }, { "symbol": "MAP3K12", "ensemblId": "ENSG00000139625", "biotype": "protein_coding", "start": 53479669, "end": 53500063, "strand": "-", "slug": "map3k12" }, { "symbol": "TARBP2", "ensemblId": "ENSG00000139546", "biotype": "protein_coding", "start": 53500921, "end": 53506431, "strand": "+", "slug": "tarbp2" }, { "symbol": "NPFF", "ensemblId": "ENSG00000139574", "biotype": "protein_coding", "start": 53506684, "end": 53507491, "strand": "-", "slug": "npff" }, { "symbol": "ATF7-NPFF", "ensemblId": "ENSG00000267281", "biotype": "protein_coding", "start": 53506691, "end": 53625979, "strand": "-", "slug": "atf7-npff" }, { "symbol": "ATF7", "ensemblId": "ENSG00000170653", "biotype": "protein_coding", "start": 53507856, "end": 53626412, "strand": "-", "slug": "atf7" } ], "truncated": false }, "reports": [ { "slug": "nephrotic-syndrome", "name": "Nefrotiskt syndrom", "diseases": [ { "mondoId": "MONDO:0002331", "name": "Nefros", "genes": 29, "inheritance": null, "description": "Patologiska processer i NJUREN utan inflammatoriska eller neoplastiska inslag. Nefros kan vara en primär sjukdom eller en sekundär komplikation till andra sjukdomar. Den kännetecknas av NEFROTISKT SYNDROM, vilket visar på närvaro av PROTEINURI och HYPOALBUMINEMI med medföljande ÖDEM.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/nephrotic-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [], "related": [ { "slug": "actn4", "symbol": "ACTN4", "name": "actinin alpha 4", "shared": 1, "url": "https://dantelabs.com/sv/genes/actn4" }, { "slug": "arhgdia", "symbol": "ARHGDIA", "name": "Rho GDP dissociation inhibitor alpha", "shared": 1, "url": "https://dantelabs.com/sv/genes/arhgdia" }, { "slug": "coq6", "symbol": "COQ6", "name": "coenzyme Q6, monooxygenase", "shared": 1, "url": "https://dantelabs.com/sv/genes/coq6" }, { "slug": "coq8b", "symbol": "COQ8B", "name": "coenzyme Q8B", "shared": 1, "url": "https://dantelabs.com/sv/genes/coq8b" }, { "slug": "daam2", "symbol": "DAAM2", "name": "dishevelled associated activator of morphogenesis 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/daam2" }, { "slug": "dgke", "symbol": "DGKE", "name": "diacylglycerol kinase epsilon", "shared": 1, "url": "https://dantelabs.com/sv/genes/dgke" }, { "slug": "dlc1", "symbol": "DLC1", "name": "DLC1 Rho GTPase activating protein", "shared": 1, "url": "https://dantelabs.com/sv/genes/dlc1" }, { "slug": "emp2", "symbol": "EMP2", "name": "epithelial membrane protein 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/emp2" }, { "slug": "itsn1", "symbol": "ITSN1", "name": "intersectin 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/itsn1" }, { "slug": "itsn2", "symbol": "ITSN2", "name": "intersectin 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/itsn2" }, { "slug": "kank2", "symbol": "KANK2", "name": "KN motif and ankyrin repeat domains 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/kank2" }, { "slug": "lama5", "symbol": "LAMA5", "name": "laminin subunit alpha 5", "shared": 1, "url": "https://dantelabs.com/sv/genes/lama5" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }