{
  "url": "https://dantelabs.com/el/genes/pax9",
  "gene": {
    "slug": "pax9",
    "symbol": "PAX9",
    "name": "paired box 9",
    "hgnc": "HGNC:8623",
    "summary": null,
    "location": "14q13.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000198807",
    "entrezId": 5083,
    "omim": [
      "167416"
    ],
    "uniprot": [
      "P55771"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 36661860,
      "end": 36679362,
      "strand": "+",
      "ensemblTranscript": "ENST00000361487.7",
      "refseqTranscript": "NM_001372076.1",
      "ensemblProtein": "ENSP00000355245.6",
      "refseqProtein": "NP_001359005.1",
      "exons": [
        {
          "start": 36661860,
          "end": 36662093
        },
        {
          "start": 36662897,
          "end": 36663523
        },
        {
          "start": 36666462,
          "end": 36666601
        },
        {
          "start": 36676198,
          "end": 36679362
        }
      ],
      "cds": {
        "start": 36662090,
        "end": 36676452
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 37126773,
      "end": 37148920,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 36170611,
      "end": 37170610,
      "genes": [
        {
          "symbol": "MBIP",
          "ensemblId": "ENSG00000151332",
          "biotype": "protein_coding",
          "start": 36298231,
          "end": 36320680,
          "strand": "-",
          "slug": "mbip"
        },
        {
          "symbol": "SFTA3",
          "ensemblId": "ENSG00000257520",
          "biotype": "protein_coding",
          "start": 36473207,
          "end": 36521149,
          "strand": "-"
        },
        {
          "symbol": "NKX2-1",
          "ensemblId": "ENSG00000136352",
          "biotype": "protein_coding",
          "start": 36516392,
          "end": 36521149,
          "strand": "-",
          "slug": "nkx2-1"
        },
        {
          "symbol": "NKX2-8",
          "ensemblId": "ENSG00000136327",
          "biotype": "protein_coding",
          "start": 36580004,
          "end": 36582614,
          "strand": "-",
          "slug": "nkx2-8"
        },
        {
          "symbol": "SLC25A21",
          "ensemblId": "ENSG00000183032",
          "biotype": "protein_coding",
          "start": 36677921,
          "end": 37172743,
          "strand": "-",
          "slug": "slc25a21"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hypodontia-and-anodontia",
        "name": "Υποδοντία και Ανοδοντία",
        "diseases": [
          {
            "mondoId": "MONDO:0005486",
            "name": "Αγενεσία δοντιών (Υποδοντία)",
            "genes": 7,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hypodontia-and-anodontia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-canine-tooth-morphology",
        "name": "Abnormality of canine",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-canine-tooth-morphology"
      },
      {
        "slug": "abnormal-dental-morphology",
        "name": "Abnormality of dental shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-dental-morphology"
      },
      {
        "slug": "abnormal-primary-molar-morphology",
        "name": "Abnormality of shape of baby molar",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-primary-molar-morphology"
      },
      {
        "slug": "agenesis-of-permanent-molar",
        "name": "Absence of adult molar",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/agenesis-of-permanent-molar"
      },
      {
        "slug": "agenesis-of-mandibular-premolar",
        "name": "Absence of lower premolar",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-mandibular-premolar"
      },
      {
        "slug": "agenesis-of-premolar",
        "name": "Absence of premolar",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-premolar"
      },
      {
        "slug": "agenesis-of-first-permanent-molar-tooth",
        "name": "Absence of six year molar",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-first-permanent-molar-tooth"
      },
      {
        "slug": "agenesis-of-maxillary-lateral-incisor",
        "name": "Absence of upper lateral incisor",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-maxillary-lateral-incisor"
      },
      {
        "slug": "agenesis-of-central-incisor",
        "name": "Absent central incisor",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-central-incisor"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "impaired-mastication",
        "name": "Chewing difficulties",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-mastication"
      },
      {
        "slug": "orofacial-cleft",
        "name": "Cleft of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/orofacial-cleft"
      },
      {
        "slug": "short-dental-root",
        "name": "Decreased length of dental roots",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-dental-root"
      },
      {
        "slug": "hypoplasia-of-teeth",
        "name": "Decreased size of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-teeth"
      },
      {
        "slug": "microdontia",
        "name": "Decreased size of tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microdontia"
      },
      {
        "slug": "delayed-eruption-of-permanent-teeth",
        "name": "Delayed eruption of permanent teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-permanent-teeth"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "oligodontia",
        "name": "Failure of development of more than six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oligodontia"
      },
      {
        "slug": "eclabion",
        "name": "Outward turned lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eclabion"
      },
      {
        "slug": "peg-shaped-maxillary-lateral-incisors",
        "name": "Peg-shaped maxillary lateral incisors",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peg-shaped-maxillary-lateral-incisors"
      },
      {
        "slug": "short-face",
        "name": "Short face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-face"
      },
      {
        "slug": "taurodontia",
        "name": "Taurodontia",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/taurodontia"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "widely-spaced-teeth",
        "name": "Widely spaced teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/widely-spaced-teeth"
      }
    ],
    "related": [
      {
        "slug": "eda",
        "symbol": "EDA",
        "name": "ectodysplasin A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/eda"
      },
      {
        "slug": "lrp6",
        "symbol": "LRP6",
        "name": "LDL receptor related protein 6",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/lrp6"
      },
      {
        "slug": "msx1",
        "symbol": "MSX1",
        "name": "msh homeobox 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/msx1"
      },
      {
        "slug": "tspear",
        "symbol": "TSPEAR",
        "name": "thrombospondin type laminin G domain and EAR repeats",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/tspear"
      },
      {
        "slug": "wnt10a",
        "symbol": "WNT10A",
        "name": "Wnt family member 10A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/wnt10a"
      },
      {
        "slug": "wnt10b",
        "symbol": "WNT10B",
        "name": "Wnt family member 10B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/wnt10b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}