{
  "url": "https://dantelabs.com/fi/genes/ndufa11",
  "gene": {
    "slug": "ndufa11",
    "symbol": "NDUFA11",
    "name": "NADH:ubiquinone oxidoreductase subunit A11",
    "hgnc": "HGNC:20371",
    "summary": null,
    "location": "19p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "B14.7"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000174886",
    "entrezId": 126328,
    "omim": [
      "612638"
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    "uniprot": [
      "Q86Y39"
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      "end": 5903790,
      "strand": "-",
      "ensemblTranscript": "ENST00000308961.5",
      "refseqTranscript": "NM_175614.5",
      "ensemblProtein": "ENSP00000311740.4",
      "refseqProtein": "NP_783313.1",
      "exons": [
        {
          "start": 5894675,
          "end": 5894854
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        {
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        {
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      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
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      "end": 5904017,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "ZNRF4",
          "ensemblId": "ENSG00000105428",
          "biotype": "protein_coding",
          "start": 5455417,
          "end": 5456856,
          "strand": "+",
          "slug": "znrf4"
        },
        {
          "symbol": "TINCR",
          "ensemblId": "ENSG00000223573",
          "biotype": "protein_coding",
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          "end": 5578349,
          "strand": "-",
          "slug": "tincr"
        },
        {
          "symbol": "SAFB2",
          "ensemblId": "ENSG00000130254",
          "biotype": "protein_coding",
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          "end": 5624046,
          "strand": "-",
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        },
        {
          "symbol": "SAFB",
          "ensemblId": "ENSG00000160633",
          "biotype": "protein_coding",
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          "end": 5668478,
          "strand": "+",
          "slug": "safb"
        },
        {
          "symbol": "RPL36",
          "ensemblId": "ENSG00000130255",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "MICOS13",
          "ensemblId": "ENSG00000174917",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "micos13"
        },
        {
          "symbol": "HSD11B1L",
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          "biotype": "protein_coding",
          "start": 5680604,
          "end": 5688524,
          "strand": "+",
          "slug": "hsd11b1l"
        },
        {
          "symbol": "LONP1",
          "ensemblId": "ENSG00000196365",
          "biotype": "protein_coding",
          "start": 5691834,
          "end": 5720572,
          "strand": "-",
          "slug": "lonp1"
        },
        {
          "symbol": "CATSPERD",
          "ensemblId": "ENSG00000174898",
          "biotype": "protein_coding",
          "start": 5720637,
          "end": 5778734,
          "strand": "+",
          "slug": "catsperd"
        },
        {
          "symbol": "PRR22",
          "ensemblId": "ENSG00000212123",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "prr22"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267157",
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          "strand": "-"
        },
        {
          "symbol": "DUS3L",
          "ensemblId": "ENSG00000141994",
          "biotype": "protein_coding",
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          "slug": "dus3l"
        },
        {
          "symbol": "NRTN",
          "ensemblId": "ENSG00000171119",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "nrtn"
        },
        {
          "symbol": "FUT6",
          "ensemblId": "ENSG00000156413",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fut6"
        },
        {
          "symbol": "FUT3",
          "ensemblId": "ENSG00000171124",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fut3"
        },
        {
          "symbol": "FUT5",
          "ensemblId": "ENSG00000130383",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fut5"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267740",
          "biotype": "protein_coding",
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          "strand": "-"
        },
        {
          "symbol": "VMAC",
          "ensemblId": "ENSG00000187650",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "vmac"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267314",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "CAPS",
          "ensemblId": "ENSG00000105519",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "caps"
        },
        {
          "symbol": "RANBP3",
          "ensemblId": "ENSG00000031823",
          "biotype": "protein_coding",
          "start": 5916138,
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          "strand": "-",
          "slug": "ranbp3"
        },
        {
          "symbol": "RFX2",
          "ensemblId": "ENSG00000087903",
          "biotype": "protein_coding",
          "start": 5993164,
          "end": 6199572,
          "strand": "-",
          "slug": "rfx2"
        },
        {
          "symbol": "ACSBG2",
          "ensemblId": "ENSG00000130377",
          "biotype": "protein_coding",
          "start": 6135247,
          "end": 6193094,
          "strand": "+",
          "slug": "acsbg2"
        },
        {
          "symbol": "MLLT1",
          "ensemblId": "ENSG00000130382",
          "biotype": "protein_coding",
          "start": 6210377,
          "end": 6280029,
          "strand": "-",
          "slug": "mllt1"
        },
        {
          "symbol": "ACER1",
          "ensemblId": "ENSG00000167769",
          "biotype": "protein_coding",
          "start": 6306030,
          "end": 6333612,
          "strand": "-",
          "slug": "acer1"
        },
        {
          "symbol": "CLPP",
          "ensemblId": "ENSG00000125656",
          "biotype": "protein_coding",
          "start": 6361427,
          "end": 6370242,
          "strand": "+",
          "slug": "clpp"
        },
        {
          "symbol": "ALKBH7",
          "ensemblId": "ENSG00000125652",
          "biotype": "protein_coding",
          "start": 6372715,
          "end": 6377261,
          "strand": "+",
          "slug": "alkbh7"
        },
        {
          "symbol": "PSPN",
          "ensemblId": "ENSG00000125650",
          "biotype": "protein_coding",
          "start": 6375148,
          "end": 6379058,
          "strand": "-",
          "slug": "pspn"
        },
        {
          "symbol": "GTF2F1",
          "ensemblId": "ENSG00000125651",
          "biotype": "protein_coding",
          "start": 6379545,
          "end": 6393981,
          "strand": "-",
          "slug": "gtf2f1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primaarinen mitokondriosairaus",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Mitokondrion hengitysketjun kompleksin puutos",
            "genes": 61,
            "inheritance": null,
            "description": "Kompleksien I, II, III, IV tai V yksittäinen puutos, jota aiheuttavat tumagenomin tai mitokondrion geenien variantit. Se voi vaikuttaa aivoihin, lihaksiin, sydämeen, maksaan ja muihin energiaa vaativiin elimiin.",
            "management": "Tieto voi lopettaa diagnoosin etsimisen ja ohjata sairastuneiden elinten seurantaa sekä mitokondrioille myrkyllisten lääkkeiden välttämistä.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-mitochondria-in-muscle-tissue",
        "name": "Abnormal mitochondria in muscle tissue",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-mitochondria-in-muscle-tissue"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "biventricular-hypertrophy",
        "name": "Biventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/biventricular-hypertrophy"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "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": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fetal-distress",
        "name": "Fetal distress",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fetal-distress"
      },
      {
        "slug": "focal-t2-hyperintense-brainstem-lesion",
        "name": "Focal T2 hyperintense brainstem lesion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/focal-t2-hyperintense-brainstem-lesion"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "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": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "increased-circulating-pyruvate-concentration",
        "name": "Increased circulating pyruvate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "mitochondrial-myopathy",
        "name": "Mitochondrial myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mitochondrial-myopathy"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "paroxysmal-involuntary-eye-movements",
        "name": "Paroxysmal involuntary eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-involuntary-eye-movements"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "proximal-tubulopathy",
        "name": "Proximal tubulopathy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proximal-tubulopathy"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/acad9"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atp5f1e"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/bcs1l"
      },
      {
        "slug": "coa6",
        "symbol": "COA6",
        "name": "cytochrome c oxidase assembly factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/coa6"
      },
      {
        "slug": "coa8",
        "symbol": "COA8",
        "name": "cytochrome c oxidase assembly factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/coa8"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cox10"
      },
      {
        "slug": "cox15",
        "symbol": "COX15",
        "name": "cytochrome c oxidase assembly factor COX15",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cox15"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "name": "cytochrome c oxidase assembly factor COX16",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cox16"
      },
      {
        "slug": "cox20",
        "symbol": "COX20",
        "name": "cytochrome c oxidase assembly factor COX20",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cox20"
      },
      {
        "slug": "cox6b1",
        "symbol": "COX6B1",
        "name": "cytochrome c oxidase subunit 6B1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cox6b1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}