{ "url": "https://dantelabs.com/ko/genes/pigk", "gene": { "slug": "pigk", "symbol": "PIGK", "name": "phosphatidylinositol glycan anchor biosynthesis class K", "hgnc": "HGNC:8965", "summary": null, "location": "1p31.1", "locusType": "gene with protein product", "aliases": [ "hGPI8", "GPI8", "PIG-K" ], "previousSymbols": [], "ensemblId": "ENSG00000142892", "entrezId": 10026, "omim": [ "605087" ], "uniprot": [ "Q92643" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 77088989, "end": 77219430, "strand": "-", "ensemblTranscript": "ENST00000370812.8", "refseqTranscript": "NM_005482.3", "ensemblProtein": "ENSP00000359848.3", "refseqProtein": "NP_005473.1", "exons": [ { "start": 77088989, "end": 77092490 }, { "start": 77122275, "end": 77122359 }, { "start": 77154449, "end": 77154621 }, { "start": 77161295, "end": 77161405 }, { "start": 77161594, "end": 77161711 }, { "start": 77163846, "end": 77163942 }, { "start": 77166719, "end": 77166830 }, { "start": 77169260, "end": 77169395 }, { "start": 77206640, "end": 77206731 }, { "start": 77210436, "end": 77210489 }, { "start": 77219310, "end": 77219430 } ], "cds": { "start": 77092374, "end": 77219402 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 77554675, "end": 77685115, "strand": "-" }, "neighbourhood": { "release": "116", "start": 76654210, "end": 77654209, "genes": [ { "symbol": "ST6GALNAC5", "ensemblId": "ENSG00000117069", "biotype": "protein_coding", "start": 76867325, "end": 77067849, "strand": "+", "slug": "st6galnac5" }, { "symbol": "AK5", "ensemblId": "ENSG00000154027", "biotype": "protein_coding", "start": 77281853, "end": 77559966, "strand": "+", "slug": "ak5" }, { "symbol": "ZZZ3", "ensemblId": "ENSG00000036549", "biotype": "protein_coding", "start": 77562416, "end": 77683550, "strand": "-", "slug": "zzz3" } ], "truncated": false }, "reports": [ { "slug": "gpi-anchor-biosynthesis-defects", "name": "GPI 앵커 생합성 결함", "diseases": [ { "mondoId": "MONDO:0024321", "name": "GPI 앵커 생합성 장애", "genes": 20, "inheritance": null, "description": "GPI 앵커를 만들고 부착하는 데 필요한 PIG, PGAP 및 관련 유전자의 변이로 발생하는 유전성 질환군입니다. 일반적으로 발달 지연, 근긴장 저하, 간질이 나타납니다.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/gpi-anchor-biosynthesis-defects" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "decreased-expression-of-gpi-anchored-proteins-on-the-cell-surface", "name": "Decreased expression of GPI-anchored proteins on the cell surface", "systems": [ "abnormal-cellular-phenotype" ], "url": "https://dantelabs.com/traits/decreased-expression-of-gpi-anchored-proteins-on-the-cell-surface" }, { "slug": "decreased-circulating-alkaline-phosphatase-activity", "name": "Decreased serum alkaline phosphatase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-alkaline-phosphatase-activity" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "dental-crowding", "name": "Dental crowding", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/dental-crowding" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "high-anterior-hairline", "name": "High frontal hairline", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/high-anterior-hairline" }, { "slug": "sparse-lateral-eyebrow", "name": "Limited hair on end of eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-lateral-eyebrow" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/long-face" }, { "slug": "prominent-antitragus", "name": "Prominent antitragus", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/prominent-antitragus" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" } ], "related": [ { "slug": "gpaa1", "symbol": "GPAA1", "name": "glycosylphosphatidylinositol anchor attachment 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/gpaa1" }, { "slug": "pgap2", "symbol": "PGAP2", "name": "post-GPI attachment to proteins 2", "shared": 1, "url": "https://dantelabs.com/ko/genes/pgap2" }, { "slug": "pgap3", "symbol": "PGAP3", "name": "post-GPI attachment to proteins phospholipase 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/pgap3" }, { "slug": "piga", "symbol": "PIGA", "name": "phosphatidylinositol glycan anchor biosynthesis class A", "shared": 1, "url": "https://dantelabs.com/ko/genes/piga" }, { "slug": "pigb", "symbol": "PIGB", "name": "phosphatidylinositol glycan anchor biosynthesis class B", "shared": 1, "url": "https://dantelabs.com/ko/genes/pigb" }, { "slug": "pigc", "symbol": "PIGC", "name": "phosphatidylinositol glycan anchor biosynthesis class C", "shared": 1, "url": "https://dantelabs.com/ko/genes/pigc" }, { "slug": "pigg", "symbol": "PIGG", "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)", "shared": 1, "url": "https://dantelabs.com/ko/genes/pigg" }, { "slug": "pigh", "symbol": "PIGH", "name": "phosphatidylinositol glycan anchor biosynthesis class H", "shared": 1, "url": "https://dantelabs.com/ko/genes/pigh" }, { "slug": "pigl", "symbol": "PIGL", "name": "phosphatidylinositol glycan anchor biosynthesis class L", "shared": 1, "url": "https://dantelabs.com/ko/genes/pigl" }, { "slug": "pign", "symbol": "PIGN", "name": "phosphatidylinositol glycan anchor biosynthesis class N", "shared": 1, "url": "https://dantelabs.com/ko/genes/pign" }, { "slug": "pigo", "symbol": "PIGO", "name": "phosphatidylinositol glycan anchor biosynthesis class O", "shared": 1, "url": "https://dantelabs.com/ko/genes/pigo" }, { "slug": "pigp", "symbol": "PIGP", "name": "phosphatidylinositol glycan anchor biosynthesis class P", "shared": 1, "url": "https://dantelabs.com/ko/genes/pigp" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }