{
  "url": "https://dantelabs.com/lt/genes/guk1",
  "gene": {
    "slug": "guk1",
    "symbol": "GUK1",
    "name": "guanylate kinase 1",
    "hgnc": "HGNC:4693",
    "summary": null,
    "location": "1q42.13",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
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    "entrezId": 2987,
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      "139270"
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    "uniprot": [
      "Q16774"
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      "release": "v1.5",
      "chrom": "1",
      "start": 228140279,
      "end": 228148951,
      "strand": "+",
      "ensemblTranscript": "ENST00000453943.6",
      "refseqTranscript": "NM_001159390.2",
      "ensemblProtein": "ENSP00000401832.2",
      "refseqProtein": "NP_001152862.1",
      "exons": [
        {
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          "end": 228140363
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      ],
      "cds": {
        "start": 228140303,
        "end": 228148697
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
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      "end": 228336685,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 227644615,
      "end": 228644614,
      "genes": [
        {
          "symbol": "ZNF678",
          "ensemblId": "ENSG00000181450",
          "biotype": "protein_coding",
          "start": 227542091,
          "end": 227679669,
          "strand": "+",
          "slug": "znf678"
        },
        {
          "symbol": "SNAP47",
          "ensemblId": "ENSG00000143740",
          "biotype": "protein_coding",
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          "end": 227781826,
          "strand": "+",
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        {
          "symbol": "JMJD4",
          "ensemblId": "ENSG00000081692",
          "biotype": "protein_coding",
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          "end": 227735413,
          "strand": "-",
          "slug": "jmjd4"
        },
        {
          "symbol": "PRSS38",
          "ensemblId": "ENSG00000185888",
          "biotype": "protein_coding",
          "start": 227815675,
          "end": 227846478,
          "strand": "+",
          "slug": "prss38"
        },
        {
          "symbol": "WNT9A",
          "ensemblId": "ENSG00000143816",
          "biotype": "protein_coding",
          "start": 227918656,
          "end": 227947939,
          "strand": "-",
          "slug": "wnt9a"
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        {
          "symbol": "WNT3A",
          "ensemblId": "ENSG00000154342",
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          "end": 228061328,
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          "slug": "wnt3a"
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        {
          "symbol": "ARF1",
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          "biotype": "protein_coding",
          "start": 228081841,
          "end": 228099212,
          "strand": "+",
          "slug": "arf1"
        },
        {
          "symbol": "C1orf35",
          "ensemblId": "ENSG00000143793",
          "biotype": "protein_coding",
          "start": 228099030,
          "end": 228105411,
          "strand": "-",
          "slug": "c1orf35"
        },
        {
          "symbol": "MRPL55",
          "ensemblId": "ENSG00000162910",
          "biotype": "protein_coding",
          "start": 228105949,
          "end": 228109358,
          "strand": "-",
          "slug": "mrpl55"
        },
        {
          "symbol": "GJC2",
          "ensemblId": "ENSG00000198835",
          "biotype": "protein_coding",
          "start": 228149891,
          "end": 228159826,
          "strand": "+",
          "slug": "gjc2"
        },
        {
          "symbol": "IBA57",
          "ensemblId": "ENSG00000181873",
          "biotype": "protein_coding",
          "start": 228165777,
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          "strand": "+",
          "slug": "iba57"
        },
        {
          "symbol": "OBSCN",
          "ensemblId": "ENSG00000154358",
          "biotype": "protein_coding",
          "start": 228208026,
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          "strand": "+",
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        },
        {
          "symbol": "TRIM11",
          "ensemblId": "ENSG00000154370",
          "biotype": "protein_coding",
          "start": 228393672,
          "end": 228406841,
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          "slug": "trim11"
        },
        {
          "symbol": "TRIM17",
          "ensemblId": "ENSG00000162931",
          "biotype": "protein_coding",
          "start": 228406860,
          "end": 228416902,
          "strand": "-",
          "slug": "trim17"
        },
        {
          "symbol": "H3-4",
          "ensemblId": "ENSG00000168148",
          "biotype": "protein_coding",
          "start": 228424845,
          "end": 228425360,
          "strand": "-",
          "slug": "h3-4"
        },
        {
          "symbol": "H2AC25",
          "ensemblId": "ENSG00000181218",
          "biotype": "protein_coding",
          "start": 228434777,
          "end": 228457873,
          "strand": "-",
          "slug": "h2ac25"
        },
        {
          "symbol": "H2BC26",
          "ensemblId": "ENSG00000196890",
          "biotype": "protein_coding",
          "start": 228458103,
          "end": 228463104,
          "strand": "+",
          "slug": "h2bc26"
        },
        {
          "symbol": "RNF187",
          "ensemblId": "ENSG00000168159",
          "biotype": "protein_coding",
          "start": 228487357,
          "end": 228499899,
          "strand": "+",
          "slug": "rnf187"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primarna mitochondrinė liga",
        "diseases": [
          {
            "mondoId": "MONDO:0018158",
            "name": "Mitochondrijų DNR kiekio sumažėjimo sindromas",
            "genes": 20,
            "inheritance": null,
            "description": "Jį sukelia branduolio genų, tokių kaip POLG, TWNK, TK2, DGUOK, MPV17, RRM2B ir SUCLA2, variantai. Jie sumažina mitochondrijų DNR kiekį ir gali sukelti raumenų, kepenų ar smegenų ligą.",
            "management": "Žinojimas yra tiesiogiai naudingas: esant POLG ligai, valproatą būtina vengti dėl mirtino kepenų nepakankamumo rizikos, o esant TK2 nepakankamumui yra nukleozidų terapija.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "asthma",
        "name": "Asthma",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/asthma"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "chronic-fatigue",
        "name": "Chronic fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-fatigue"
      },
      {
        "slug": "cytochrome-c-oxidase-negative-muscle-fibers",
        "name": "Cytochrome C oxidase-negative muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cytochrome-c-oxidase-negative-muscle-fibers"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iii",
        "name": "Decreased activity of mitochondrial complex III",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iii"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-total-cd4-t-cell-proportion",
        "name": "Decreased total CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "insomnia",
        "name": "Difficulty staying or falling asleep",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/insomnia"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "bilateral-ptosis",
        "name": "Drooping of both upper eyelids",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-ptosis"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "enlargement-of-parotid-gland",
        "name": "Enlargement of parotid gland",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enlargement-of-parotid-gland"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "generalized-limb-muscle-atrophy",
        "name": "Generalized muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-limb-muscle-atrophy"
      },
      {
        "slug": "glucose-intolerance",
        "name": "Glucose intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glucose-intolerance"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "impaired-distal-vibration-sensation",
        "name": "Impaired distal vibration sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation"
      },
      {
        "slug": "increased-endomysial-connective-tissue",
        "name": "Increased endomysial connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-endomysial-connective-tissue"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "limb-muscle-weakness",
        "name": "Limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-muscle-weakness"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "mitochondrial-respiratory-chain-defects",
        "name": "Mitochondrial respiratory chain defects",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mitochondrial-respiratory-chain-defects"
      },
      {
        "slug": "multiple-mitochondrial-dna-deletions",
        "name": "Multiple mitochondrial DNA deletions",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multiple-mitochondrial-dna-deletions"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "ragged-red-muscle-fibers",
        "name": "Ragged-red muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "telangiectasia-of-the-skin",
        "name": "Telangiectasia of the skin",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/telangiectasia-of-the-skin"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "ophthalmoparesis",
        "name": "Weakness of muscles controlling eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ophthalmoparesis"
      }
    ],
    "related": [
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/afg3l2"
      },
      {
        "slug": "agk",
        "symbol": "AGK",
        "name": "acylglycerol kinase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/agk"
      },
      {
        "slug": "dguok",
        "symbol": "DGUOK",
        "name": "deoxyguanosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/dguok"
      },
      {
        "slug": "dna2",
        "symbol": "DNA2",
        "name": "DNA replication helicase/nuclease 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/dna2"
      },
      {
        "slug": "fbxl4",
        "symbol": "FBXL4",
        "name": "F-box and leucine rich repeat protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/fbxl4"
      },
      {
        "slug": "lig3",
        "symbol": "LIG3",
        "name": "DNA ligase 3",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/lig3"
      },
      {
        "slug": "mgme1",
        "symbol": "MGME1",
        "name": "mitochondrial genome maintenance exonuclease 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/mgme1"
      },
      {
        "slug": "mpv17",
        "symbol": "MPV17",
        "name": "mitochondrial inner membrane protein MPV17",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/mpv17"
      },
      {
        "slug": "mrm2",
        "symbol": "MRM2",
        "name": "mitochondrial rRNA methyltransferase 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/mrm2"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/opa1"
      },
      {
        "slug": "polg",
        "symbol": "POLG",
        "name": "DNA polymerase gamma, catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/polg"
      },
      {
        "slug": "rrm2b",
        "symbol": "RRM2B",
        "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/rrm2b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}