{
  "url": "https://dantelabs.com/lt/genes/kif12",
  "gene": {
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    "symbol": "KIF12",
    "name": "kinesin family member 12",
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    "aliases": [],
    "previousSymbols": [],
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      "build": "GRCh37",
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          "symbol": "RGS3",
          "ensemblId": "ENSG00000138835",
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        {
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        {
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        {
          "symbol": "COL27A1",
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        {
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        {
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        {
          "symbol": "AKNA",
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        {
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        {
          "symbol": "ATP6V1G1",
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          "slug": "atp6v1g1"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-intrahepatic-cholestasis",
        "name": "Šeimyninė intrahepatinė cholestazė",
        "diseases": [
          {
            "mondoId": "MONDO:0017290",
            "name": "Šeimyninė intrahepatinė cholestazė",
            "genes": 10,
            "inheritance": "autosomal-recessive",
            "description": "Intrahepatinės cholestazės atvejis, kurį sukelia paveldėtas jūsų genomo pakitimas.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
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            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/familial-intrahepatic-cholestasis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "bile-duct-proliferation",
        "name": "Bile duct proliferation",
        "systems": [
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        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bile-duct-proliferation"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-alpha-fetoprotein-concentration",
        "name": "Elevated circulating alpha-fetoprotein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alpha-fetoprotein-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "elevated-gamma-glutamyltransferase-level",
        "name": "Elevated gamma-glutamyltransferase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "esophageal-varix",
        "name": "Enlarged vein in esophagus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-varix"
      },
      {
        "slug": "hepatic-bridging-fibrosis",
        "name": "Hepatic bridging fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-bridging-fibrosis"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "increased-serum-bile-acid-concentration",
        "name": "Increased serum bile acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-serum-bile-acid-concentration"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "sclerosing-cholangitis",
        "name": "Sclerosing cholangitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sclerosing-cholangitis"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cholestasis"
      }
    ],
    "related": [
      {
        "slug": "abcb11",
        "symbol": "ABCB11",
        "name": "ATP binding cassette subfamily B member 11",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/abcb11"
      },
      {
        "slug": "abcb4",
        "symbol": "ABCB4",
        "name": "ATP binding cassette subfamily B member 4",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/abcb4"
      },
      {
        "slug": "atp8b1",
        "symbol": "ATP8B1",
        "name": "ATPase phospholipid transporting 8B1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp8b1"
      },
      {
        "slug": "myo5b",
        "symbol": "MYO5B",
        "name": "myosin VB",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/myo5b"
      },
      {
        "slug": "nr1h4",
        "symbol": "NR1H4",
        "name": "nuclear receptor subfamily 1 group H member 4",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/nr1h4"
      },
      {
        "slug": "pskh1",
        "symbol": "PSKH1",
        "name": "protein serine kinase H1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/pskh1"
      },
      {
        "slug": "tjp2",
        "symbol": "TJP2",
        "name": "tight junction protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/tjp2"
      },
      {
        "slug": "usp53",
        "symbol": "USP53",
        "name": "ubiquitin specific peptidase 53",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/usp53"
      },
      {
        "slug": "zfyve19",
        "symbol": "ZFYVE19",
        "name": "zinc finger FYVE-type containing 19",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/zfyve19"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}