{
  "url": "https://dantelabs.com/et/genes/oxct1",
  "gene": {
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    "symbol": "OXCT1",
    "name": "3-oxoacid CoA-transferase 1",
    "hgnc": "HGNC:8527",
    "summary": null,
    "location": "5p13.1",
    "locusType": "gene with protein product",
    "aliases": [
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    "previousSymbols": [
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    "entrezId": 5019,
    "omim": [
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    "uniprot": [
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      "release": "v1.5",
      "chrom": "5",
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      "ensemblTranscript": "ENST00000196371.10",
      "refseqTranscript": "NM_000436.4",
      "ensemblProtein": "ENSP00000196371.5",
      "refseqProtein": "NP_000427.1",
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
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      "end": 41870621,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 41300245,
      "end": 42300244,
      "genes": [
        {
          "symbol": "PLCXD3",
          "ensemblId": "ENSG00000182836",
          "biotype": "protein_coding",
          "start": 41306952,
          "end": 41510784,
          "strand": "-",
          "slug": "plcxd3"
        },
        {
          "symbol": "RIMOC1",
          "ensemblId": "ENSG00000205765",
          "biotype": "protein_coding",
          "start": 41904188,
          "end": 41921692,
          "strand": "+",
          "slug": "rimoc1"
        },
        {
          "symbol": "FBXO4",
          "ensemblId": "ENSG00000151876",
          "biotype": "protein_coding",
          "start": 41925210,
          "end": 42040243,
          "strand": "+",
          "slug": "fbxo4"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "decreased-body-weight",
        "name": "Decreased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-body-weight"
      },
      {
        "slug": "decreased-succinyl-coa-3-ketoacid-coa-transferase-activity",
        "name": "Decreased Succinyl-CoA 3-ketoacid CoA transferase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-succinyl-coa-3-ketoacid-coa-transferase-activity"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "elevated-urinary-3-hydroxybutyric-acid",
        "name": "Elevated urinary 3-hydroxybutyric acid",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-3-hydroxybutyric-acid"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "episodic-ketoacidosis",
        "name": "Episodic ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/episodic-ketoacidosis"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "hyperketonemia",
        "name": "Increased level of ketone bodies in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperketonemia"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "ketoacidosis",
        "name": "Ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ketoacidosis"
      },
      {
        "slug": "ketonuria",
        "name": "Ketonuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ketonuria"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "reduced-succinyl-coa-3-oxoacid-coa-transferase-activity-in-cultured-fibroblasts",
        "name": "Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-succinyl-coa-3-oxoacid-coa-transferase-activity-in-cultured-fibroblasts"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}