{
  "url": "https://dantelabs.com/no/genes/pitx1",
  "gene": {
    "slug": "pitx1",
    "symbol": "PITX1",
    "name": "paired like homeodomain 1",
    "hgnc": "HGNC:9004",
    "summary": null,
    "location": "5q31.1",
    "locusType": "gene with protein product",
    "aliases": [
      "PTX1",
      "POTX"
    ],
    "previousSymbols": [
      "BFT"
    ],
    "ensemblId": "ENSG00000069011",
    "entrezId": 5307,
    "omim": [
      "602149"
    ],
    "uniprot": [
      "P78337"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 135027734,
      "end": 135034228,
      "strand": "-",
      "ensemblTranscript": "ENST00000265340.12",
      "refseqTranscript": "NM_002653.5",
      "ensemblProtein": "ENSP00000265340.6",
      "refseqProtein": "NP_002644.4",
      "exons": [
        {
          "start": 135027734,
          "end": 135029321
        },
        {
          "start": 135031276,
          "end": 135031508
        },
        {
          "start": 135033713,
          "end": 135034228
        }
      ],
      "cds": {
        "start": 135028779,
        "end": 135033881
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 134363425,
      "end": 134370503,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 134530981,
      "end": 135530980,
      "genes": [
        {
          "symbol": "JADE2",
          "ensemblId": "ENSG00000043143",
          "biotype": "protein_coding",
          "start": 134523979,
          "end": 134583230,
          "strand": "+",
          "slug": "jade2"
        },
        {
          "symbol": "SAR1B",
          "ensemblId": "ENSG00000152700",
          "biotype": "protein_coding",
          "start": 134601149,
          "end": 134649271,
          "strand": "-",
          "slug": "sar1b"
        },
        {
          "symbol": "SEC24A",
          "ensemblId": "ENSG00000113615",
          "biotype": "protein_coding",
          "start": 134648587,
          "end": 134727911,
          "strand": "+",
          "slug": "sec24a"
        },
        {
          "symbol": "CAMLG",
          "ensemblId": "ENSG00000164615",
          "biotype": "protein_coding",
          "start": 134737608,
          "end": 134752705,
          "strand": "+",
          "slug": "camlg"
        },
        {
          "symbol": "DDX46",
          "ensemblId": "ENSG00000145833",
          "biotype": "protein_coding",
          "start": 134758771,
          "end": 134831121,
          "strand": "+",
          "slug": "ddx46"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000310592",
          "biotype": "protein_coding",
          "start": 134818916,
          "end": 134855133,
          "strand": "+"
        },
        {
          "symbol": "C5orf24",
          "ensemblId": "ENSG00000181904",
          "biotype": "protein_coding",
          "start": 134845680,
          "end": 134859735,
          "strand": "+",
          "slug": "c5orf24"
        },
        {
          "symbol": "TXNDC15",
          "ensemblId": "ENSG00000113621",
          "biotype": "protein_coding",
          "start": 134874308,
          "end": 134902952,
          "strand": "+",
          "slug": "txndc15"
        },
        {
          "symbol": "PCBD2",
          "ensemblId": "ENSG00000132570",
          "biotype": "protein_coding",
          "start": 134905039,
          "end": 135007959,
          "strand": "+",
          "slug": "pcbd2"
        },
        {
          "symbol": "CATSPER3",
          "ensemblId": "ENSG00000152705",
          "biotype": "protein_coding",
          "start": 134967907,
          "end": 135011696,
          "strand": "+",
          "slug": "catsper3"
        },
        {
          "symbol": "MACROH2A1",
          "ensemblId": "ENSG00000113648",
          "biotype": "protein_coding",
          "start": 135332641,
          "end": 135400023,
          "strand": "-",
          "slug": "macroh2a1"
        },
        {
          "symbol": "DCANP1",
          "ensemblId": "ENSG00000251380",
          "biotype": "protein_coding",
          "start": 135444214,
          "end": 135447348,
          "strand": "-",
          "slug": "dcanp1"
        },
        {
          "symbol": "TIFAB",
          "ensemblId": "ENSG00000255833",
          "biotype": "protein_coding",
          "start": 135444226,
          "end": 135452388,
          "strand": "-",
          "slug": "tifab"
        },
        {
          "symbol": "SLC25A48",
          "ensemblId": "ENSG00000145832",
          "biotype": "protein_coding",
          "start": 135476913,
          "end": 135890730,
          "strand": "+",
          "slug": "slc25a48"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-fingernail-morphology",
        "name": "Abnormal fingernails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology"
      },
      {
        "slug": "abnormal-humerus-morphology",
        "name": "Abnormal humerus morphology",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-humerus-morphology"
      },
      {
        "slug": "abnormal-morphology-of-ulna",
        "name": "Abnormal morphology of ulna",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-ulna"
      },
      {
        "slug": "abnormal-distal-phalanx-morphology-of-finger",
        "name": "Abnormality of the outermost finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-distal-phalanx-morphology-of-finger"
      },
      {
        "slug": "absent-tibia",
        "name": "Absent shankbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-tibia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-radius",
        "name": "Aplasia/Hypoplasia of the radius",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-radius"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "median-cleft-palate",
        "name": "Central cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/median-cleft-palate"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "bilateral-talipes-equinovarus",
        "name": "Club foot on both sides",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bilateral-talipes-equinovarus"
      },
      {
        "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": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "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": "elbow-dislocation",
        "name": "Elbow dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elbow-dislocation"
      },
      {
        "slug": "enlarged-cisterna-magna",
        "name": "Enlarged cisterna magna",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enlarged-cisterna-magna"
      },
      {
        "slug": "synostosis-of-carpal-bones",
        "name": "Fusion of wrist bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/synostosis-of-carpal-bones"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "mirror-image-foot-polydactyly",
        "name": "Mirror image duplication of toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mirror-image-foot-polydactyly"
      },
      {
        "slug": "popliteal-pterygium",
        "name": "Popliteal pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/popliteal-pterygium"
      },
      {
        "slug": "preaxial-foot-polydactyly",
        "name": "Preaxial foot polydactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/preaxial-foot-polydactyly"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "patellar-hypoplasia",
        "name": "Small kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patellar-hypoplasia"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}