{
  "url": "https://dantelabs.com/ko/genes/alg5",
  "gene": {
    "slug": "alg5",
    "symbol": "ALG5",
    "name": "ALG5 dolichyl-phosphate beta-glucosyltransferase",
    "hgnc": "HGNC:20266",
    "summary": null,
    "location": "13q13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "bA421P11.2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000120697",
    "entrezId": 29880,
    "omim": [
      "604565"
    ],
    "uniprot": [
      "Q9Y673"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 36949738,
      "end": 36999340,
      "strand": "-",
      "ensemblTranscript": "ENST00000239891.4",
      "refseqTranscript": "NM_013338.5",
      "ensemblProtein": "ENSP00000239891.3",
      "refseqProtein": "NP_037470.1",
      "exons": [
        {
          "start": 36949738,
          "end": 36950057
        },
        {
          "start": 36952514,
          "end": 36952599
        },
        {
          "start": 36965575,
          "end": 36965726
        },
        {
          "start": 36971977,
          "end": 36972036
        },
        {
          "start": 36985627,
          "end": 36985740
        },
        {
          "start": 36989484,
          "end": 36989576
        },
        {
          "start": 36993604,
          "end": 36993672
        },
        {
          "start": 36994989,
          "end": 36995035
        },
        {
          "start": 36995425,
          "end": 36995596
        },
        {
          "start": 36999235,
          "end": 36999340
        }
      ],
      "cds": {
        "start": 36949942,
        "end": 36999300
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 37523912,
      "end": 37574398,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 36474539,
      "end": 37474538,
      "genes": [
        {
          "symbol": "SERTM1",
          "ensemblId": "ENSG00000180440",
          "biotype": "protein_coding",
          "start": 36673798,
          "end": 36698457,
          "strand": "+",
          "slug": "sertm1"
        },
        {
          "symbol": "RFXAP",
          "ensemblId": "ENSG00000133111",
          "biotype": "protein_coding",
          "start": 36819188,
          "end": 36848169,
          "strand": "+",
          "slug": "rfxap"
        },
        {
          "symbol": "SMAD9",
          "ensemblId": "ENSG00000120693",
          "biotype": "protein_coding",
          "start": 36844831,
          "end": 36920887,
          "strand": "-",
          "slug": "smad9"
        },
        {
          "symbol": "EXOSC8",
          "ensemblId": "ENSG00000120699",
          "biotype": "protein_coding",
          "start": 36998816,
          "end": 37025881,
          "strand": "+",
          "slug": "exosc8"
        },
        {
          "symbol": "SUPT20H",
          "ensemblId": "ENSG00000102710",
          "biotype": "protein_coding",
          "start": 37006027,
          "end": 37059728,
          "strand": "-",
          "slug": "supt20h"
        },
        {
          "symbol": "CSNK1A1L",
          "ensemblId": "ENSG00000180138",
          "biotype": "protein_coding",
          "start": 37103259,
          "end": 37105664,
          "strand": "-",
          "slug": "csnk1a1l"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "polycystic-kidney-disease",
        "name": "다낭성 신장병",
        "diseases": [
          {
            "mondoId": "MONDO:0020642",
            "name": "다낭성 신장병",
            "genes": 11,
            "inheritance": null,
            "description": "대개 상염색체 우성, 드물게 상염색체 열성으로 유전되는 유전 질환으로, 신장에 다수의 낭종이 생겨 말기 신부전으로 진행하는 것이 특징입니다. 상염색체 우성 형태는 16번 염색체 단완의 이상과 관련이 있습니다. 상염색체 우성 형태의 환자에게서는 주로 중년에 증상이 나타나며, 복통, 혈뇨, 고혈압 등이 있을 수 있습니다. 뇌동맥류와 간낭종이 생길 수도 있습니다. 상염색체 열성 형태의 환자는 생애 초기에 진행성 신부전과 간 섬유증으로 인한 증상이 나타납니다. 상염색체 열성 형태는 6번 염색체의 이상과 관련이 있습니다. 또한 신장 투석을 받는 환자에게 부작용으로 다낭성 신장병이 나타날 수도 있습니다.",
            "management": "급속 진행성 ADPKD에 대한 톨바프탄(Jynarque, FDA 2018); 혈압 조절(목표 <110/75); 통증 관리; 낭종 감염 치료; 뇌동맥류 선별을 위한 뇌 MRA 검사; 말기 신질환에 대한 신장 이식",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/polycystic-kidney-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-systemic-arterial-morphology",
        "name": "Abnormal systemic arterial morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-systemic-arterial-morphology"
      },
      {
        "slug": "abnormal-urinary-electrolyte-concentration",
        "name": "Abnormal urinary electrolyte concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-urinary-electrolyte-concentration"
      },
      {
        "slug": "albuminuria",
        "name": "Albuminuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/albuminuria"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "aortic-root-aneurysm",
        "name": "Bulge in wall of root of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-root-aneurysm"
      },
      {
        "slug": "calcium-oxalate-nephrolithiasis",
        "name": "Calcium oxalate nephrolithiasis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/calcium-oxalate-nephrolithiasis"
      },
      {
        "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": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "decreased-glomerular-filtration-rate",
        "name": "Decreased glomerular filtration rate",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "enlarged-kidney",
        "name": "Enlarged kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enlarged-kidney"
      },
      {
        "slug": "flank-pain",
        "name": "Flank pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flank-pain"
      },
      {
        "slug": "arachnoid-cyst",
        "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arachnoid-cyst"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "renal-atrophy",
        "name": "Kidney degeneration",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-atrophy"
      },
      {
        "slug": "hepatic-cysts",
        "name": "Liver cysts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatic-cysts"
      },
      {
        "slug": "mitral-valve-prolapse",
        "name": "Mitral valve prolapse",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitral-valve-prolapse"
      },
      {
        "slug": "multiple-renal-cysts",
        "name": "Multiple kidney cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multiple-renal-cysts"
      },
      {
        "slug": "pancreatic-cysts",
        "name": "Pancreatic cysts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatic-cysts"
      },
      {
        "slug": "pituitary-growth-hormone-cell-adenoma",
        "name": "Pituitary growth hormone cell adenoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pituitary-growth-hormone-cell-adenoma"
      },
      {
        "slug": "polycystic-liver-disease",
        "name": "Polycystic liver disease",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polycystic-liver-disease"
      },
      {
        "slug": "pyelonephritis",
        "name": "Pyelonephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pyelonephritis"
      },
      {
        "slug": "reduced-sperm-motility",
        "name": "Reduced sperm motility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-sperm-motility"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "renal-interstitial-fibrosis",
        "name": "Renal interstitial fibrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-interstitial-fibrosis"
      },
      {
        "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": "uric-acid-nephrolithiasis",
        "name": "Uric acid stones",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/uric-acid-nephrolithiasis"
      }
    ],
    "related": [
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg9"
      },
      {
        "slug": "dnajb11",
        "symbol": "DNAJB11",
        "name": "DnaJ heat shock protein family (Hsp40) member B11",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/dnajb11"
      },
      {
        "slug": "dzip1l",
        "symbol": "DZIP1L",
        "name": "DAZ interacting zinc finger protein 1 like",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/dzip1l"
      },
      {
        "slug": "ganab",
        "symbol": "GANAB",
        "name": "glucosidase II alpha subunit",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/ganab"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "name": "intraflagellar transport 140",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/ift140"
      },
      {
        "slug": "nek8",
        "symbol": "NEK8",
        "name": "NIMA related kinase 8",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/nek8"
      },
      {
        "slug": "pkd1",
        "symbol": "PKD1",
        "name": "polycystin 1, transient receptor potential channel interacting",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/pkd1"
      },
      {
        "slug": "pkd2",
        "symbol": "PKD2",
        "name": "polycystin 2, transient receptor potential cation channel",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/pkd2"
      },
      {
        "slug": "pkhd1",
        "symbol": "PKHD1",
        "name": "PKHD1 ciliary IPT domain containing fibrocystin/polyductin",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/pkhd1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}