{
  "url": "https://dantelabs.com/el/genes/smad6",
  "gene": {
    "slug": "smad6",
    "symbol": "SMAD6",
    "name": "SMAD family member 6",
    "hgnc": "HGNC:6772",
    "summary": null,
    "location": "15q22.31",
    "locusType": "gene with protein product",
    "aliases": [
      "HsT17432"
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    "previousSymbols": [
      "MADH7",
      "MADH6"
    ],
    "ensemblId": "ENSG00000137834",
    "entrezId": 4091,
    "omim": [
      "602931"
    ],
    "uniprot": [
      "O43541"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 66702236,
      "end": 66782849,
      "strand": "+",
      "ensemblTranscript": "ENST00000288840.10",
      "refseqTranscript": "NM_005585.5",
      "ensemblProtein": "ENSP00000288840.5",
      "refseqProtein": "NP_005576.3",
      "exons": [
        {
          "start": 66702236,
          "end": 66704075
        },
        {
          "start": 66711668,
          "end": 66711724
        },
        {
          "start": 66716421,
          "end": 66716498
        },
        {
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          "end": 66782849
        }
      ],
      "cds": {
        "start": 66703259,
        "end": 66781535
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 66994566,
      "end": 67074338,
      "strand": "+"
    },
    "neighbourhood": {
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      "start": 66242543,
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      "genes": [
        {
          "symbol": "MEGF11",
          "ensemblId": "ENSG00000157890",
          "biotype": "protein_coding",
          "start": 65895079,
          "end": 66253811,
          "strand": "-",
          "slug": "megf11"
        },
        {
          "symbol": "DIS3L",
          "ensemblId": "ENSG00000166938",
          "biotype": "protein_coding",
          "start": 66293217,
          "end": 66333906,
          "strand": "+",
          "slug": "dis3l"
        },
        {
          "symbol": "TIPIN",
          "ensemblId": "ENSG00000075131",
          "biotype": "protein_coding",
          "start": 66336191,
          "end": 66386756,
          "strand": "-",
          "slug": "tipin"
        },
        {
          "symbol": "MAP2K1",
          "ensemblId": "ENSG00000169032",
          "biotype": "protein_coding",
          "start": 66386816,
          "end": 66491656,
          "strand": "+",
          "slug": "map2k1"
        },
        {
          "symbol": "SNAPC5",
          "ensemblId": "ENSG00000174446",
          "biotype": "protein_coding",
          "start": 66487639,
          "end": 66497823,
          "strand": "-",
          "slug": "snapc5"
        },
        {
          "symbol": "RPL4",
          "ensemblId": "ENSG00000174444",
          "biotype": "protein_coding",
          "start": 66498015,
          "end": 66524532,
          "strand": "-",
          "slug": "rpl4"
        },
        {
          "symbol": "ZWILCH",
          "ensemblId": "ENSG00000174442",
          "biotype": "protein_coding",
          "start": 66504959,
          "end": 66550130,
          "strand": "+",
          "slug": "zwilch"
        },
        {
          "symbol": "LCTL",
          "ensemblId": "ENSG00000188501",
          "biotype": "protein_coding",
          "start": 66547179,
          "end": 66566003,
          "strand": "-",
          "slug": "lctl"
        },
        {
          "symbol": "SMAD3",
          "ensemblId": "ENSG00000166949",
          "biotype": "protein_coding",
          "start": 67063763,
          "end": 67195173,
          "strand": "+",
          "slug": "smad3"
        },
        {
          "symbol": "AAGAB",
          "ensemblId": "ENSG00000103591",
          "biotype": "protein_coding",
          "start": 67200462,
          "end": 67255195,
          "strand": "-",
          "slug": "aagab"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-left-ventricular-outflow-tract-morphology",
        "name": "Abnormal left ventricular outflow tract morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-left-ventricular-outflow-tract-morphology"
      },
      {
        "slug": "aortic-arch-aneurysm",
        "name": "Aortic arch aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-arch-aneurysm"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "aortic-tortuosity",
        "name": "Aortic tortuosity",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-tortuosity"
      },
      {
        "slug": "aortic-valve-calcification",
        "name": "Aortic valve calcification",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aortic-valve-calcification"
      },
      {
        "slug": "bicuspid-aortic-valve",
        "name": "Aortic valve has two leaflets rather than three",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bicuspid-aortic-valve"
      },
      {
        "slug": "ascending-aortic-dissection",
        "name": "Ascending aortic dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ascending-aortic-dissection"
      },
      {
        "slug": "aortic-aneurysm",
        "name": "Bulge in wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-aneurysm"
      },
      {
        "slug": "calcification-of-the-aorta",
        "name": "Calcification of the aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/calcification-of-the-aorta"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "radioulnar-synostosis",
        "name": "Fused forearm bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/radioulnar-synostosis"
      },
      {
        "slug": "heart-murmur",
        "name": "Heart murmur",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/heart-murmur"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "limited-pronation-supination-of-forearm",
        "name": "Limited pronation/supination of forearm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limited-pronation-supination-of-forearm"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "coarctation-of-aorta",
        "name": "Narrowing of aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coarctation-of-aorta"
      },
      {
        "slug": "aortic-valve-stenosis",
        "name": "Narrowing of aortic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aortic-valve-stenosis"
      },
      {
        "slug": "pulmonic-stenosis",
        "name": "Narrowing of pulmonic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonic-stenosis"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "thoracic-aorta-calcification",
        "name": "Thoracic aorta calcification",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thoracic-aorta-calcification"
      },
      {
        "slug": "hypoplastic-left-ventricle",
        "name": "Underdeveloped left heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypoplastic-left-ventricle"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}