{
  "url": "https://dantelabs.com/it/genes/mpdz",
  "gene": {
    "slug": "mpdz",
    "symbol": "MPDZ",
    "name": "multiple PDZ domain crumbs cell polarity complex component",
    "hgnc": "HGNC:7208",
    "summary": null,
    "location": "9p23",
    "locusType": "gene with protein product",
    "aliases": [
      "MUPP1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000107186",
    "entrezId": 8777,
    "omim": [
      "603785"
    ],
    "uniprot": [
      "O75970"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 13105707,
      "end": 13279692,
      "strand": "-",
      "ensemblTranscript": "ENST00000319217.12",
      "refseqTranscript": "NM_001378778.1",
      "ensemblProtein": "ENSP00000320006.7",
      "refseqProtein": "NP_001365707.1",
      "exons": [
        {
          "start": 13105707,
          "end": 13107111
        },
        {
          "start": 13108936,
          "end": 13109059
        },
        {
          "start": 13109952,
          "end": 13110064
        },
        {
          "start": 13110636,
          "end": 13110740
        },
        {
          "start": 13112024,
          "end": 13112146
        },
        {
          "start": 13113011,
          "end": 13113054
        },
        {
          "start": 13113931,
          "end": 13114021
        },
        {
          "start": 13115248,
          "end": 13115334
        },
        {
          "start": 13119502,
          "end": 13119649
        },
        {
          "start": 13121739,
          "end": 13121932
        },
        {
          "start": 13122087,
          "end": 13122170
        },
        {
          "start": 13123153,
          "end": 13123298
        },
        {
          "start": 13125216,
          "end": 13125390
        },
        {
          "start": 13126516,
          "end": 13126590
        },
        {
          "start": 13126680,
          "end": 13126772
        },
        {
          "start": 13133824,
          "end": 13133904
        },
        {
          "start": 13136092,
          "end": 13136182
        },
        {
          "start": 13136712,
          "end": 13136803
        },
        {
          "start": 13137957,
          "end": 13138153
        },
        {
          "start": 13139987,
          "end": 13140149
        },
        {
          "start": 13143466,
          "end": 13143564
        },
        {
          "start": 13147548,
          "end": 13147658
        },
        {
          "start": 13150511,
          "end": 13150688
        },
        {
          "start": 13158018,
          "end": 13158110
        },
        {
          "start": 13162691,
          "end": 13162795
        },
        {
          "start": 13168366,
          "end": 13168564
        },
        {
          "start": 13175752,
          "end": 13175875
        },
        {
          "start": 13176136,
          "end": 13176417
        },
        {
          "start": 13183418,
          "end": 13183585
        },
        {
          "start": 13186270,
          "end": 13186386
        },
        {
          "start": 13188784,
          "end": 13188993
        },
        {
          "start": 13190114,
          "end": 13190299
        },
        {
          "start": 13192131,
          "end": 13192295
        },
        {
          "start": 13193167,
          "end": 13193313
        },
        {
          "start": 13196121,
          "end": 13196230
        },
        {
          "start": 13205036,
          "end": 13205107
        },
        {
          "start": 13205916,
          "end": 13206099
        },
        {
          "start": 13216774,
          "end": 13216862
        },
        {
          "start": 13217180,
          "end": 13217294
        },
        {
          "start": 13219559,
          "end": 13219768
        },
        {
          "start": 13221372,
          "end": 13221500
        },
        {
          "start": 13222233,
          "end": 13222446
        },
        {
          "start": 13223571,
          "end": 13223710
        },
        {
          "start": 13224374,
          "end": 13224583
        },
        {
          "start": 13247635,
          "end": 13247801
        },
        {
          "start": 13250300,
          "end": 13250372
        },
        {
          "start": 13279400,
          "end": 13279692
        }
      ],
      "cds": {
        "start": 13106965,
        "end": 13250315
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 13105703,
      "end": 13279589,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 12692700,
      "end": 13692699,
      "genes": [
        {
          "symbol": "TYRP1",
          "ensemblId": "ENSG00000107165",
          "biotype": "protein_coding",
          "start": 12333995,
          "end": 12710597,
          "strand": "+",
          "slug": "tyrp1"
        },
        {
          "symbol": "LURAP1L",
          "ensemblId": "ENSG00000153714",
          "biotype": "protein_coding",
          "start": 12775005,
          "end": 12823060,
          "strand": "+",
          "slug": "lurap1l"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "alternating-esotropia",
        "name": "Alternating cross eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alternating-esotropia"
      },
      {
        "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": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "chorioretinal-coloboma",
        "name": "Birth defect that causes a hole in the innermost layer at the back of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-coloboma"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "colpocephaly",
        "name": "Colpocephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/colpocephaly"
      },
      {
        "slug": "communicating-hydrocephalus",
        "name": "Communicating hydrocephalus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/communicating-hydrocephalus"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "lissencephaly",
        "name": "Fewer or absent grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lissencephaly"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "macular-hypoplasia",
        "name": "Macular hypoplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/macular-hypoplasia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "right-atrial-enlargement",
        "name": "Right atrial enlargement",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/right-atrial-enlargement"
      },
      {
        "slug": "rotary-nystagmus",
        "name": "Rotary nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rotary-nystagmus"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "simplified-gyral-pattern",
        "name": "Simplified gyral pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/simplified-gyral-pattern"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}