{
  "url": "https://dantelabs.com/no/genes/siah1",
  "gene": {
    "slug": "siah1",
    "symbol": "SIAH1",
    "name": "siah E3 ubiquitin protein ligase 1",
    "hgnc": "HGNC:10857",
    "summary": null,
    "location": "16q12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "hSIAH1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000196470",
    "entrezId": 6477,
    "omim": [
      "602212"
    ],
    "uniprot": [
      "Q8IUQ4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 48360531,
      "end": 48385413,
      "strand": "-",
      "ensemblTranscript": "ENST00000394725.3",
      "refseqTranscript": "NM_003031.4",
      "ensemblProtein": "ENSP00000378214.2",
      "refseqProtein": "NP_003022.3",
      "exons": [
        {
          "start": 48360531,
          "end": 48362430
        },
        {
          "start": 48385204,
          "end": 48385413
        }
      ],
      "cds": {
        "start": 48361580,
        "end": 48362428
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 48390275,
      "end": 48482313,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 47872972,
      "end": 48872971,
      "genes": [
        {
          "symbol": "ABCC12",
          "ensemblId": "ENSG00000140798",
          "biotype": "protein_coding",
          "start": 48080882,
          "end": 48156018,
          "strand": "-",
          "slug": "abcc12"
        },
        {
          "symbol": "ABCC11",
          "ensemblId": "ENSG00000121270",
          "biotype": "protein_coding",
          "start": 48165773,
          "end": 48247568,
          "strand": "-",
          "slug": "abcc11"
        },
        {
          "symbol": "LONP2",
          "ensemblId": "ENSG00000102910",
          "biotype": "protein_coding",
          "start": 48244250,
          "end": 48363122,
          "strand": "+",
          "slug": "lonp2"
        },
        {
          "symbol": "N4BP1",
          "ensemblId": "ENSG00000102921",
          "biotype": "protein_coding",
          "start": 48538726,
          "end": 48620148,
          "strand": "-",
          "slug": "n4bp1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "broad-hallux",
        "name": "Broad big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-hallux"
      },
      {
        "slug": "broad-thumb",
        "name": "Broad thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-thumb"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "floppy-infant",
        "name": "Decreased muscle tone in infant",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/floppy-infant"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dilation-of-virchow-robin-spaces",
        "name": "Dilation of Virchow-Robin spaces",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilation-of-virchow-robin-spaces"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "exotropia",
        "name": "Outward facing eye ball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exotropia"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "small-nail",
        "name": "Small nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-nail"
      },
      {
        "slug": "laryngomalacia",
        "name": "Softening of voice box tissue",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/laryngomalacia"
      },
      {
        "slug": "sparse-medial-eyebrow",
        "name": "Sparse medial eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-medial-eyebrow"
      },
      {
        "slug": "submucous-cleft-hard-palate",
        "name": "Submucous cleft hard palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/submucous-cleft-hard-palate"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "velopharyngeal-insufficiency",
        "name": "Velopharyngeal incompetence",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/velopharyngeal-insufficiency"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}