{
  "url": "https://dantelabs.com/el/genes/cfhr5",
  "gene": {
    "slug": "cfhr5",
    "symbol": "CFHR5",
    "name": "complement factor H related 5",
    "hgnc": "HGNC:24668",
    "summary": null,
    "location": "1q31.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FHR5",
      "FHR-5"
    ],
    "previousSymbols": [
      "CFHL5"
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    "entrezId": 81494,
    "omim": [
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    "uniprot": [
      "Q9BXR6"
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      "build": "GRCh38",
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      "chrom": "1",
      "start": 196977556,
      "end": 197009678,
      "strand": "+",
      "ensemblTranscript": "ENST00000256785.5",
      "refseqTranscript": "NM_030787.4",
      "ensemblProtein": "ENSP00000256785.4",
      "refseqProtein": "NP_110414.1",
      "exons": [
        {
          "start": 196977556,
          "end": 196977722
        },
        {
          "start": 196982885,
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        {
          "start": 196983961,
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        {
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        {
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        {
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        {
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        {
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        {
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        },
        {
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      ],
      "cds": {
        "start": 196977665,
        "end": 197008683
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 196946667,
      "end": 196978804,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 196493617,
      "end": 197493616,
      "genes": [
        {
          "symbol": "KCNT2",
          "ensemblId": "ENSG00000162687",
          "biotype": "protein_coding",
          "start": 196225779,
          "end": 196609225,
          "strand": "-",
          "slug": "kcnt2"
        },
        {
          "symbol": "CFH",
          "ensemblId": "ENSG00000000971",
          "biotype": "protein_coding",
          "start": 196651754,
          "end": 196753075,
          "strand": "+",
          "slug": "cfh"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289697",
          "biotype": "protein_coding",
          "start": 196651852,
          "end": 196795393,
          "strand": "+"
        },
        {
          "symbol": "CFHR3",
          "ensemblId": "ENSG00000116785",
          "biotype": "protein_coding",
          "start": 196774742,
          "end": 196803130,
          "strand": "+",
          "slug": "cfhr3"
        },
        {
          "symbol": "CFHR1",
          "ensemblId": "ENSG00000244414",
          "biotype": "protein_coding",
          "start": 196819314,
          "end": 196837159,
          "strand": "+",
          "slug": "cfhr1"
        },
        {
          "symbol": "CFHR4",
          "ensemblId": "ENSG00000134365",
          "biotype": "protein_coding",
          "start": 196888014,
          "end": 196920294,
          "strand": "+",
          "slug": "cfhr4"
        },
        {
          "symbol": "CFHR2",
          "ensemblId": "ENSG00000080910",
          "biotype": "protein_coding",
          "start": 196943731,
          "end": 196964408,
          "strand": "+",
          "slug": "cfhr2"
        },
        {
          "symbol": "F13B",
          "ensemblId": "ENSG00000143278",
          "biotype": "protein_coding",
          "start": 197038737,
          "end": 197067267,
          "strand": "-",
          "slug": "f13b"
        },
        {
          "symbol": "ASPM",
          "ensemblId": "ENSG00000066279",
          "biotype": "protein_coding",
          "start": 197084121,
          "end": 197146699,
          "strand": "-",
          "slug": "aspm"
        },
        {
          "symbol": "ZBTB41",
          "ensemblId": "ENSG00000177888",
          "biotype": "protein_coding",
          "start": 197153682,
          "end": 197201449,
          "strand": "-",
          "slug": "zbtb41"
        },
        {
          "symbol": "CRB1",
          "ensemblId": "ENSG00000134376",
          "biotype": "protein_coding",
          "start": 197268195,
          "end": 197478455,
          "strand": "+",
          "slug": "crb1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hemolytic-uremic-syndrome-interstitial-nephritis",
        "name": "Αιμολυτικό Ουραιμικό Σύνδρομο, Διάμεση Νεφρίτιδα",
        "diseases": [
          {
            "mondoId": "MONDO:0018013",
            "name": "Γλωμερυλοπάθεια του Συμπληρώματος 3",
            "genes": 4,
            "inheritance": null,
            "description": "Νόσος των νεφρών, συμπεριλαμβανομένης της C3 σπειραματονεφρίτιδας και της νόσου των πυκνών εναποθέσεων, που προκαλείται από ανεξέλεγκτη ενεργοποίηση του συστήματος του συμπληρώματος, συχνά με εμπλοκή των CFH, CFHR5, C3 ή CFI.",
            "management": "Η γνώση αυτή καθοδηγεί την παρακολούθηση της νεφρικής λειτουργίας και την εξέταση θεραπείας που στοχεύει στο σύστημα του συμπληρώματος.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hemolytic-uremic-syndrome-interstitial-nephritis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "glomerular-c3-deposition",
        "name": "Glomerular C3 deposition",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glomerular-c3-deposition"
      },
      {
        "slug": "glomerular-subendothelial-electron-dense-deposits",
        "name": "Glomerular subendothelial electron-dense deposits",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glomerular-subendothelial-electron-dense-deposits"
      },
      {
        "slug": "glomerulonephritis",
        "name": "Glomerulonephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/glomerulonephritis"
      },
      {
        "slug": "mesangial-hypercellularity",
        "name": "Mesangial hypercellularity",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mesangial-hypercellularity"
      },
      {
        "slug": "mesangial-matrix-expansion",
        "name": "Mesangial matrix expansion",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mesangial-matrix-expansion"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "microscopic-hematuria",
        "name": "Small amount of blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microscopic-hematuria"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "thickening-of-glomerular-capillary-wall",
        "name": "Thickening of glomerular capillary wall",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thickening-of-glomerular-capillary-wall"
      }
    ],
    "related": [
      {
        "slug": "c3",
        "symbol": "C3",
        "name": "complement C3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/c3"
      },
      {
        "slug": "cfh",
        "symbol": "CFH",
        "name": "complement factor H",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cfh"
      },
      {
        "slug": "cfi",
        "symbol": "CFI",
        "name": "complement factor I",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cfi"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}