{
  "url": "https://dantelabs.com/el/genes/smad9",
  "gene": {
    "slug": "smad9",
    "symbol": "SMAD9",
    "name": "SMAD family member 9",
    "hgnc": "HGNC:6774",
    "summary": null,
    "location": "13q13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "SMAD8",
      "SMAD8/9"
    ],
    "previousSymbols": [
      "MADH6",
      "MADH9"
    ],
    "ensemblId": "ENSG00000120693",
    "entrezId": 4093,
    "omim": [
      "603295"
    ],
    "uniprot": [
      "O15198"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 36844831,
      "end": 36920238,
      "strand": "-",
      "ensemblTranscript": "ENST00000379826.5",
      "refseqTranscript": "NM_001127217.3",
      "ensemblProtein": "ENSP00000369154.4",
      "refseqProtein": "NP_001120689.1",
      "exons": [
        {
          "start": 36844831,
          "end": 36848819
        },
        {
          "start": 36853419,
          "end": 36853675
        },
        {
          "start": 36865537,
          "end": 36865758
        },
        {
          "start": 36867273,
          "end": 36867383
        },
        {
          "start": 36872658,
          "end": 36872915
        },
        {
          "start": 36879278,
          "end": 36879875
        },
        {
          "start": 36920116,
          "end": 36920238
        }
      ],
      "cds": {
        "start": 36848676,
        "end": 36879689
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 37418968,
      "end": 37494902,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 36382535,
      "end": 37382534,
      "genes": [
        {
          "symbol": "CCNA1",
          "ensemblId": "ENSG00000133101",
          "biotype": "protein_coding",
          "start": 36431511,
          "end": 36442959,
          "strand": "+",
          "slug": "ccna1"
        },
        {
          "symbol": "SERTM1",
          "ensemblId": "ENSG00000180440",
          "biotype": "protein_coding",
          "start": 36673798,
          "end": 36698457,
          "strand": "+",
          "slug": "sertm1"
        },
        {
          "symbol": "RFXAP",
          "ensemblId": "ENSG00000133111",
          "biotype": "protein_coding",
          "start": 36819188,
          "end": 36848169,
          "strand": "+",
          "slug": "rfxap"
        },
        {
          "symbol": "ALG5",
          "ensemblId": "ENSG00000120697",
          "biotype": "protein_coding",
          "start": 36949564,
          "end": 37000763,
          "strand": "-",
          "slug": "alg5"
        },
        {
          "symbol": "EXOSC8",
          "ensemblId": "ENSG00000120699",
          "biotype": "protein_coding",
          "start": 36998816,
          "end": 37025881,
          "strand": "+",
          "slug": "exosc8"
        },
        {
          "symbol": "SUPT20H",
          "ensemblId": "ENSG00000102710",
          "biotype": "protein_coding",
          "start": 37006027,
          "end": 37059728,
          "strand": "-",
          "slug": "supt20h"
        },
        {
          "symbol": "CSNK1A1L",
          "ensemblId": "ENSG00000180138",
          "biotype": "protein_coding",
          "start": 37103259,
          "end": 37105664,
          "strand": "-",
          "slug": "csnk1a1l"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "heritable-pulmonary-arterial-hypertension-hpah",
        "name": "Κληρονομική πνευμονική αρτηριακή υπέρταση (HPAH)",
        "diseases": [
          {
            "mondoId": "MONDO:0017148",
            "name": "Κληρονομική πνευμονική αρτηριακή υπέρταση",
            "genes": 5,
            "inheritance": null,
            "description": "Η κληρονομική πνευμονική αρτηριακή υπέρταση (HPAH) είναι μορφή πνευμονικής αρτηριακής υπέρτασης (PAH), που οφείλεται σε μεταλλάξεις σε γονίδια που predisposing στην PAH ή εμφανίζεται στο πλαίσιο οικογενειακού ιστορικού. Η HPAH χαρακτηρίζεται από αυξημένη αντίσταση στις πνευμονικές αρτηρίες, η οποία οδηγεί σε δεξιά καρδιακή ανεπάρκεια. Η HPAH είναι προοδευτική και potentially θανατηφόρα.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/heritable-pulmonary-arterial-hypertension-hpah"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormally-loud-pulmonic-component-of-the-second-heart-sound",
        "name": "Abnormally loud pulmonic component of the second heart sound",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormally-loud-pulmonic-component-of-the-second-heart-sound"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "increased-pulmonary-vascular-resistance",
        "name": "Increased pulmonary vascular resistance",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-pulmonary-vascular-resistance"
      }
    ],
    "related": [
      {
        "slug": "atp13a3",
        "symbol": "ATP13A3",
        "name": "ATPase 13A3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atp13a3"
      },
      {
        "slug": "bmpr2",
        "symbol": "BMPR2",
        "name": "bone morphogenetic protein receptor type 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/bmpr2"
      },
      {
        "slug": "cav1",
        "symbol": "CAV1",
        "name": "caveolin 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cav1"
      },
      {
        "slug": "kcnk3",
        "symbol": "KCNK3",
        "name": "potassium two pore domain channel subfamily K member 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/kcnk3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}