{
  "url": "https://dantelabs.com/pl/genes/pdha2",
  "gene": {
    "slug": "pdha2",
    "symbol": "PDHA2",
    "name": "pyruvate dehydrogenase E1 subunit alpha 2",
    "hgnc": "HGNC:8807",
    "summary": null,
    "location": "4q22.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "PDHAL"
    ],
    "ensemblId": "ENSG00000163114",
    "entrezId": 5161,
    "omim": [
      "179061"
    ],
    "uniprot": [
      "P29803"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 95840093,
      "end": 95841464,
      "strand": "+",
      "ensemblTranscript": "ENST00000295266.6",
      "refseqTranscript": "NM_005390.5",
      "ensemblProtein": "ENSP00000295266.4",
      "refseqProtein": "NP_005381.1",
      "exons": [
        {
          "start": 95840093,
          "end": 95841464
        }
      ],
      "cds": {
        "start": 95840151,
        "end": 95841317
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 96761239,
      "end": 96762625,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 95340779,
      "end": 96340778,
      "genes": [
        {
          "symbol": "UNC5C",
          "ensemblId": "ENSG00000182168",
          "biotype": "protein_coding",
          "start": 95162504,
          "end": 95549206,
          "strand": "-",
          "slug": "unc5c"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-spermatogenesis",
        "name": "Abnormal sperm development",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-spermatogenesis"
      },
      {
        "slug": "azoospermia",
        "name": "Absent sperm in semen",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/azoospermia"
      },
      {
        "slug": "decreased-testicular-size",
        "name": "Decreased testicular size",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-testicular-size"
      },
      {
        "slug": "increased-circulating-gonadotropin-level",
        "name": "Increased circulating gonadotropin level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level"
      },
      {
        "slug": "oligozoospermia",
        "name": "Low sperm count",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligozoospermia"
      },
      {
        "slug": "male-infertility",
        "name": "Male infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "non-obstructive-azoospermia",
        "name": "Non-obstructive azoospermia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/non-obstructive-azoospermia"
      },
      {
        "slug": "obstructive-azoospermia",
        "name": "Obstructive azoospermia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/obstructive-azoospermia"
      },
      {
        "slug": "reduced-sperm-motility",
        "name": "Reduced sperm motility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-sperm-motility"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}