{
  "url": "https://dantelabs.com/tr/genes/app",
  "gene": {
    "slug": "app",
    "symbol": "APP",
    "name": "amyloid beta precursor protein",
    "hgnc": "HGNC:620",
    "summary": null,
    "location": "21q21.3",
    "locusType": "gene with protein product",
    "aliases": [
      "alpha-sAPP"
    ],
    "previousSymbols": [
      "AD1"
    ],
    "ensemblId": "ENSG00000142192",
    "entrezId": 351,
    "omim": [
      "104760"
    ],
    "uniprot": [
      "P05067"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "21",
      "start": 25880550,
      "end": 26170770,
      "strand": "-",
      "ensemblTranscript": "ENST00000346798.8",
      "refseqTranscript": "NM_000484.4",
      "ensemblProtein": "ENSP00000284981.4",
      "refseqProtein": "NP_000475.1",
      "exons": [
        {
          "start": 25880550,
          "end": 25881771
        },
        {
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          "start": 26000015,
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        },
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        },
        {
          "start": 26051000,
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        },
        {
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        },
        {
          "start": 26089943,
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        },
        {
          "start": 26111979,
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        },
        {
          "start": 26170564,
          "end": 26170770
        }
      ],
      "cds": {
        "start": 25881670,
        "end": 26170620
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "21",
      "start": 27252861,
      "end": 27543446,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 25525660,
      "end": 26525659,
      "genes": [
        {
          "symbol": "MRPL39",
          "ensemblId": "ENSG00000154719",
          "biotype": "protein_coding",
          "start": 25572145,
          "end": 25607588,
          "strand": "-",
          "slug": "mrpl39"
        },
        {
          "symbol": "JAM2",
          "ensemblId": "ENSG00000154721",
          "biotype": "protein_coding",
          "start": 25639258,
          "end": 25717783,
          "strand": "+",
          "slug": "jam2"
        },
        {
          "symbol": "ATP5PF",
          "ensemblId": "ENSG00000154723",
          "biotype": "protein_coding",
          "start": 25693623,
          "end": 25735721,
          "strand": "-",
          "slug": "atp5pf"
        },
        {
          "symbol": "GABPA",
          "ensemblId": "ENSG00000154727",
          "biotype": "protein_coding",
          "start": 25734570,
          "end": 25772460,
          "strand": "+",
          "slug": "gabpa"
        },
        {
          "symbol": "CYYR1",
          "ensemblId": "ENSG00000166265",
          "biotype": "protein_coding",
          "start": 26466209,
          "end": 26573314,
          "strand": "-",
          "slug": "cyyr1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "alzheimer-disease",
        "name": "Alzheimer hastalığı",
        "diseases": [
          {
            "mondoId": "MONDO:0004975",
            "name": "Alzheimer hastalığı",
            "genes": 5,
            "inheritance": null,
            "description": null,
            "management": "Gelişmiş tarama, bilişsel etkinlik, kardiyovasküler sağlığın optimizasyonu, anti-amiloid tedaviler (lekanemab), önleyici çalışmalara katılım uygunluğu",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/alzheimer-disease"
      },
      {
        "slug": "cerebral-amyloid-angiopathy",
        "name": "Serebral Amiloid Anjiyopati",
        "diseases": [
          {
            "mondoId": "MONDO:0005620",
            "name": "Serebral Amiloid Anjiyopati",
            "genes": 3,
            "inheritance": "autosomal-dominant",
            "description": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), beyin kan damarlarında amiloid birikimiyle karakterize, kanamalı ve kanamasız felçlere, fokal nörolojik defisitlere ve sonunda demansa yol açan ilerleyici bilişsel gerilemeye neden olan, nadir görülen ailesel merkezi sinir sistemi hastalıkları grubunu tanımlar.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/cerebral-amyloid-angiopathy"
      },
      {
        "slug": "hereditary-amyloidosis-145",
        "name": "Kalıtsal Amiloidoz",
        "diseases": [
          {
            "mondoId": "MONDO:0018634",
            "name": "Kalıtsal Amiloidoz",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "Kalıtsal amiloidoz, amiloidozun alt tiplerinden birini oluşturan bir grup kalıtsal durumu ifade eder. Kalıtsal amiloidoz, vücudun birden fazla organında olmaması gereken yerlerde amiloid adı verilen anormal bir proteinin birikmesiyle karakterizedir; bu durum organ dokusunun yapısını ve işlevini bozar. Kalıtsal amiloidozda amiloid birikimleri en sık kalp, böbrek ve sinir sistemi dokularında görülür. Kalıtsal amiloidoz belirtileri çocukluk çağında ortaya çıkabilse de çoğu kişi belirtileri yetişkinlikte yaşar.\n\nFarklı gen mutasyonları ve anormal proteinlerle ilişkili birçok kalıtsal amiloidoz türü vardır. En yaygın tür, amiloid birikintilerinin çoğunlukla karaciğerde üretilen transtiretin proteininden oluştuğu transtiretin amiloidozudur (ATTR). Kalıtsal amiloidozun diğer örnekleri arasında, ancak bunlarla sınırlı kalmamak kaydıyla, apolipoprotein AI amiloidozu (A ApoAI), gelsolin amiloidozu (A Gel), lizozim amiloidozu (A Lys), sistatin C amiloidozu (A Cys), fibrinojen Aα-zinciri amiloidozu (A Fib) ve apolipoprotein AII amiloidozu (A ApoAII) bulunur.",
            "management": "Tafamidis (kinetik stabilizatör), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisens), karaciğer nakli",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/hereditary-amyloidosis-145"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-social-behavior",
        "name": "Abnormal social behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-social-behavior"
      },
      {
        "slug": "abnormality-of-mental-function",
        "name": "Abnormality of mental function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-mental-function"
      },
      {
        "slug": "abnormal-cerebral-vascular-morphology",
        "name": "Abnormality of the cerebral blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-vascular-morphology"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "agitation",
        "name": "Agitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/agitation"
      },
      {
        "slug": "alzheimer-disease",
        "name": "Alzheimer disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/alzheimer-disease"
      },
      {
        "slug": "apraxia",
        "name": "Apraxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apraxia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "cerebral-hemorrhage",
        "name": "Bleeding in brain",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-hemorrhage"
      },
      {
        "slug": "cerebellar-hemorrhage",
        "name": "Cerebellar hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-hemorrhage"
      },
      {
        "slug": "cerebral-amyloid-angiopathy",
        "name": "Cerebral amyloid angiopathy",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-amyloid-angiopathy"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "confusion",
        "name": "Confusion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/confusion"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-circulating-gaba-concentration",
        "name": "Decreased circulating GABA concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-gaba-concentration"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "deposits-immunoreactive-to-beta-amyloid-protein",
        "name": "Deposits immunoreactive to beta-amyloid protein",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/deposits-immunoreactive-to-beta-amyloid-protein"
      },
      {
        "slug": "aphasia",
        "name": "Difficulty finding words",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aphasia"
      },
      {
        "slug": "disinhibition",
        "name": "Disinhibition",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/disinhibition"
      },
      {
        "slug": "cerebral-ischemia",
        "name": "Disruption of blood oxygen supply to brain",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-ischemia"
      },
      {
        "slug": "dysgraphia",
        "name": "Dysgraphia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysgraphia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years",
        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "slug": "finger-agnosia",
        "name": "Finger agnosia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/finger-agnosia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "language-impairment",
        "name": "Language impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/language-impairment"
      },
      {
        "slug": "long-tract-sign",
        "name": "Long-tract sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/long-tract-sign"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "neurodevelopmental-abnormality",
        "name": "Neurodevelopmental abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-abnormality"
      },
      {
        "slug": "neurofibrillary-tangles",
        "name": "Neurofibrillary tangles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neurofibrillary-tangles"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "recurrent-cerebral-hemorrhage",
        "name": "Recurrent cerebral hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-cerebral-hemorrhage"
      },
      {
        "slug": "somatic-sensory-dysfunction",
        "name": "Somatic sensory dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "subarachnoid-hemorrhage",
        "name": "Subarachnoid hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage"
      },
      {
        "slug": "semantic-dementia",
        "name": "Trouble remembering words",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/semantic-dementia"
      },
      {
        "slug": "tortuous-cerebral-arteries",
        "name": "Twisted cerebral arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tortuous-cerebral-arteries"
      }
    ],
    "related": [
      {
        "slug": "cst3",
        "symbol": "CST3",
        "name": "cystatin C",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/cst3"
      },
      {
        "slug": "itm2b",
        "symbol": "ITM2B",
        "name": "integral membrane protein 2B",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/itm2b"
      },
      {
        "slug": "apoa1",
        "symbol": "APOA1",
        "name": "apolipoprotein A1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/apoa1"
      },
      {
        "slug": "apoa4",
        "symbol": "APOA4",
        "name": "apolipoprotein A4",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/apoa4"
      },
      {
        "slug": "apoe",
        "symbol": "APOE",
        "name": "apolipoprotein E",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/apoe"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/b2m"
      },
      {
        "slug": "fga",
        "symbol": "FGA",
        "name": "fibrinogen alpha chain",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/fga"
      },
      {
        "slug": "gpnmb",
        "symbol": "GPNMB",
        "name": "glycoprotein nmb",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/gpnmb"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/gsn"
      },
      {
        "slug": "lyz",
        "symbol": "LYZ",
        "name": "lysozyme",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/lyz"
      },
      {
        "slug": "osmr",
        "symbol": "OSMR",
        "name": "oncostatin M receptor",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/osmr"
      },
      {
        "slug": "psen1",
        "symbol": "PSEN1",
        "name": "presenilin 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/psen1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}