{
  "url": "https://dantelabs.com/sv/genes/entpd1",
  "gene": {
    "slug": "entpd1",
    "symbol": "ENTPD1",
    "name": "ectonucleoside triphosphate diphosphohydrolase 1",
    "hgnc": "HGNC:3363",
    "summary": null,
    "location": "10q24.1",
    "locusType": "gene with protein product",
    "aliases": [
      "ATP-DPH",
      "NTPDase-1",
      "ATPDase",
      "SPG64"
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    "previousSymbols": [
      "CD39"
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    "ensemblId": "ENSG00000138185",
    "entrezId": 953,
    "omim": [
      "601752"
    ],
    "uniprot": [
      "P49961"
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      "ensemblTranscript": "ENST00000371205.5",
      "refseqTranscript": "NM_001776.6",
      "ensemblProtein": "ENSP00000360248.4",
      "refseqProtein": "NP_001767.3",
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    },
    "grch37": {
      "build": "GRCh37",
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      "strand": "+"
    },
    "neighbourhood": {
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        {
          "symbol": "SORBS1",
          "ensemblId": "ENSG00000095637",
          "biotype": "protein_coding",
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          "end": 95561469,
          "strand": "-",
          "slug": "sorbs1"
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        {
          "symbol": "ALDH18A1",
          "ensemblId": "ENSG00000059573",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "aldh18a1"
        },
        {
          "symbol": "TCTN3",
          "ensemblId": "ENSG00000119977",
          "biotype": "protein_coding",
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          "strand": "-",
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        {
          "symbol": "",
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        },
        {
          "symbol": "CC2D2B",
          "ensemblId": "ENSG00000188649",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "cc2d2b"
        },
        {
          "symbol": "CCNJ",
          "ensemblId": "ENSG00000107443",
          "biotype": "protein_coding",
          "start": 96043053,
          "end": 96060870,
          "strand": "+",
          "slug": "ccnj"
        },
        {
          "symbol": "ZNF518A",
          "ensemblId": "ENSG00000177853",
          "biotype": "protein_coding",
          "start": 96129695,
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          "strand": "+",
          "slug": "znf518a"
        },
        {
          "symbol": "BLNK",
          "ensemblId": "ENSG00000095585",
          "biotype": "protein_coding",
          "start": 96189171,
          "end": 96272658,
          "strand": "-",
          "slug": "blnk"
        },
        {
          "symbol": "DNTT",
          "ensemblId": "ENSG00000107447",
          "biotype": "protein_coding",
          "start": 96304409,
          "end": 96338564,
          "strand": "+",
          "slug": "dntt"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Hereditär spastisk paraplegi",
        "diseases": [
          {
            "mondoId": "MONDO:0019064",
            "name": "Hereditär spastisk paraplegi (alla typer)",
            "genes": 66,
            "inheritance": null,
            "description": "Samlingsbegrepp för alla hereditära spastiska paraplegier, inklusive SPG4 (SPAST), den vanligaste dominanta formen, samt SPG5A, SPG6, SPG10, SPG18, SPG30 och SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "Baylor College of Medicine Research Center",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
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            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/hereditary-spastic-paraplegia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "borderline-intellectual-disability",
        "name": "Intellectual disability, borderline",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/borderline-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      }
    ],
    "related": [
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/abhd16a"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/aldh18a1"
      },
      {
        "slug": "amfr",
        "symbol": "AMFR",
        "name": "autocrine motility factor receptor",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/amfr"
      },
      {
        "slug": "ap4b1",
        "symbol": "AP4B1",
        "name": "adaptor related protein complex 4 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ap4b1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ap4e1"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ap4m1"
      },
      {
        "slug": "ap4s1",
        "symbol": "AP4S1",
        "name": "adaptor related protein complex 4 subunit sigma 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ap4s1"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ap5z1"
      },
      {
        "slug": "arl6ip1",
        "symbol": "ARL6IP1",
        "name": "ARL6 interacting reticulophagy regulator 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/arl6ip1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atl1"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp13a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}