{
  "url": "https://dantelabs.com/tr/genes/muc1",
  "gene": {
    "slug": "muc1",
    "symbol": "MUC1",
    "name": "mucin 1, cell surface associated",
    "hgnc": "HGNC:7508",
    "summary": null,
    "location": "1q22",
    "locusType": "gene with protein product",
    "aliases": [
      "CD227",
      "PEM",
      "ADMCKD",
      "ADMCKD1",
      "MCKD",
      "MCD",
      "KL-6",
      "EMA",
      "Ca15-3"
    ],
    "previousSymbols": [
      "PUM",
      "MCKD1"
    ],
    "ensemblId": "ENSG00000185499",
    "entrezId": 4582,
    "omim": [
      "158340"
    ],
    "uniprot": [
      "P15941"
    ],
    "model": null,
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 155158300,
      "end": 155162707,
      "strand": "-"
    },
    "neighbourhood": null,
    "reports": [
      {
        "slug": "autosomal-dominant-tubulointerstitial-kidney-disease",
        "name": "Otozomal Dominant Tübulointerstisyel Böbrek Hastalığı",
        "diseases": [
          {
            "mondoId": "MONDO:0008264",
            "name": "Otozomal Dominant Medüller Kistik Böbrek Hastalığı",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "MUC1 formu dahil, yetişkinlikte yavaş ilerleyen böbrek yetmezliğine yol açan dominant kalıtılan bir tübulointerstisyel böbrek hastalığıdır.",
            "management": "Bu bilgi, böbrek fonksiyonunun izlenmesine ve ilgili canlı böbrek vericilerinin dikkatli değerlendirilmesine destek olur.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0000608",
            "name": "Ailesel Juvenil Hiperürisemik Nefropati",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": "En sık UMOD varyantlarına (ayrıca REN veya SEC61A1'e) bağlı, dominant kalıtılan bir tübulointerstisyel böbrek hastalığıdır; yüksek ürik asit, erken başlangıçlı gut ve böbrek fonksiyonunda kademeli kayıpla seyreder.",
            "management": "Bu bilgi, böbrek fonksiyonunun izlenmesine, gut tedavisine ve ilgili canlı böbrek vericilerinin dikkatli değerlendirilmesine destek olur; REN formu fludrokortizon tedavisine yanıt verebilir.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/autosomal-dominant-tubulointerstitial-kidney-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-glomerular-filtration-rate",
        "name": "Decreased glomerular filtration rate",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "glomerular-sclerosis",
        "name": "Glomerular sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/glomerular-sclerosis"
      },
      {
        "slug": "gout",
        "name": "Gout",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/gout"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperuricemia",
        "name": "High blood uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperuricemia"
      },
      {
        "slug": "impaired-renal-uric-acid-clearance",
        "name": "Impaired renal uric acid clearance",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/impaired-renal-uric-acid-clearance"
      },
      {
        "slug": "renal-salt-wasting",
        "name": "Loss of salt in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-salt-wasting"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "renal-cortical-atrophy",
        "name": "Renal cortical atrophy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-cortical-atrophy"
      },
      {
        "slug": "renal-corticomedullary-cysts",
        "name": "Renal corticomedullary cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-corticomedullary-cysts"
      },
      {
        "slug": "renal-tubular-atrophy",
        "name": "Renal tubular atrophy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-tubular-atrophy"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "tubular-basement-membrane-disintegration",
        "name": "Tubular basement membrane disintegration",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/tubular-basement-membrane-disintegration"
      },
      {
        "slug": "tubulointerstitial-fibrosis",
        "name": "Tubulointerstitial fibrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/tubulointerstitial-fibrosis"
      },
      {
        "slug": "tubulointerstitial-nephritis",
        "name": "Tubulointerstitial nephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/tubulointerstitial-nephritis"
      }
    ],
    "related": [
      {
        "slug": "umod",
        "symbol": "UMOD",
        "name": "uromodulin",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/umod"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "name": "HNF1 homeobox B",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/hnf1b"
      },
      {
        "slug": "ren",
        "symbol": "REN",
        "name": "renin",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ren"
      },
      {
        "slug": "sec61a1",
        "symbol": "SEC61A1",
        "name": "SEC61 translocon subunit alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/sec61a1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}