{
  "url": "https://dantelabs.com/et/genes/dzip1l",
  "gene": {
    "slug": "dzip1l",
    "symbol": "DZIP1L",
    "name": "DAZ interacting zinc finger protein 1 like",
    "hgnc": "HGNC:26551",
    "summary": null,
    "location": "3q22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ32844",
      "DZIP2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000158163",
    "entrezId": 199221,
    "omim": [
      "617570"
    ],
    "uniprot": [
      "Q8IYY4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 138061990,
      "end": 138115608,
      "strand": "-",
      "ensemblTranscript": "ENST00000327532.7",
      "refseqTranscript": "NM_173543.3",
      "ensemblProtein": "ENSP00000332148.2",
      "refseqProtein": "NP_775814.2",
      "exons": [
        {
          "start": 138061990,
          "end": 138062977
        },
        {
          "start": 138064628,
          "end": 138064767
        },
        {
          "start": 138067531,
          "end": 138067700
        },
        {
          "start": 138068151,
          "end": 138068367
        },
        {
          "start": 138071643,
          "end": 138071835
        },
        {
          "start": 138077499,
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        },
        {
          "start": 138080567,
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        },
        {
          "start": 138081734,
          "end": 138081764
        },
        {
          "start": 138084113,
          "end": 138084253
        },
        {
          "start": 138086961,
          "end": 138087023
        },
        {
          "start": 138088379,
          "end": 138088507
        },
        {
          "start": 138092383,
          "end": 138092544
        },
        {
          "start": 138094862,
          "end": 138094983
        },
        {
          "start": 138097763,
          "end": 138097847
        },
        {
          "start": 138103471,
          "end": 138104052
        },
        {
          "start": 138115328,
          "end": 138115608
        }
      ],
      "cds": {
        "start": 138062816,
        "end": 138103971
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 137780832,
      "end": 137834660,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 137588799,
      "end": 138588798,
      "genes": [
        {
          "symbol": "SOX14",
          "ensemblId": "ENSG00000168875",
          "biotype": "protein_coding",
          "start": 137764315,
          "end": 137766334,
          "strand": "+",
          "slug": "sox14"
        },
        {
          "symbol": "CLDN18",
          "ensemblId": "ENSG00000066405",
          "biotype": "protein_coding",
          "start": 137998735,
          "end": 138033655,
          "strand": "+",
          "slug": "cldn18"
        },
        {
          "symbol": "A4GNT",
          "ensemblId": "ENSG00000118017",
          "biotype": "protein_coding",
          "start": 138122901,
          "end": 138132416,
          "strand": "-",
          "slug": "a4gnt"
        },
        {
          "symbol": "DBR1",
          "ensemblId": "ENSG00000138231",
          "biotype": "protein_coding",
          "start": 138160988,
          "end": 138174953,
          "strand": "-",
          "slug": "dbr1"
        },
        {
          "symbol": "ARMC8",
          "ensemblId": "ENSG00000114098",
          "biotype": "protein_coding",
          "start": 138187248,
          "end": 138298389,
          "strand": "+",
          "slug": "armc8"
        },
        {
          "symbol": "NME9",
          "ensemblId": "ENSG00000181322",
          "biotype": "protein_coding",
          "start": 138261437,
          "end": 138331354,
          "strand": "-",
          "slug": "nme9"
        },
        {
          "symbol": "MRAS",
          "ensemblId": "ENSG00000158186",
          "biotype": "protein_coding",
          "start": 138347648,
          "end": 138405535,
          "strand": "+",
          "slug": "mras"
        },
        {
          "symbol": "ESYT3",
          "ensemblId": "ENSG00000158220",
          "biotype": "protein_coding",
          "start": 138434570,
          "end": 138481686,
          "strand": "+",
          "slug": "esyt3"
        },
        {
          "symbol": "CEP70",
          "ensemblId": "ENSG00000114107",
          "biotype": "protein_coding",
          "start": 138494339,
          "end": 138594538,
          "strand": "-",
          "slug": "cep70"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "polycystic-kidney-disease",
        "name": "Polütsüstiline neeruhaigus",
        "diseases": [
          {
            "mondoId": "MONDO:0020642",
            "name": "Polütsüstiline neeruhaigus",
            "genes": 11,
            "inheritance": null,
            "description": "Tavaliselt autosomaal-dominantne, harvemini autosomaal-retsessiivne geneetiline haigus, mida iseloomustab neerudes paljude tsüstide esinemine, mis viib lõppstaadiumis neerupuudulikkuseni. Autosomaal-dominantse tunnusega seostatakse kõrvalekaldeid 16. kromosoomi lühikeses õlas. Autosomaal-dominantse tunnusega patsientidel ilmnevad sümptomid tavaliselt keskeas ning nende hulka kuuluvad kõhuvalu, hematuuria ja kõrge vererõhk. Patsientidel võivad tekkida ajuaneurüsmid ja maksatsüstid. Autosomaal-retsessiivse tunnusega patsientidel avaldub progresseeruv neerupuudulikkus juba varases eas ning maksa fibroosist tulenevad sümptomid. Autosomaal-retsessiivset tunnust seostatakse 6. kromosoomi kõrvalekalletega. Polütsüstiline neeruhaigus võib tekkida ka kõrvaltoimena patsientidel, kes saavad neerudialüüsi.",
            "management": "Tolvaptaan (Jynarque, FDA 2018) kiiresti progresseeruva ADPKD korral; vererõhu kontroll (sihtväärtus <110/75); valu ravi; tsüsti infektsiooni ravi; ajuaneurüsmide skriinimine ajuMRA-ga; neerusiirdamine lõppstaadiumis neeruhaiguse korral",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/polycystic-kidney-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-intrahepatic-bile-duct-morphology",
        "name": "Abnormal intrahepatic bile duct morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-intrahepatic-bile-duct-morphology"
      },
      {
        "slug": "abnormality-of-limbs",
        "name": "Abnormality of limbs",
        "systems": [],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-limbs"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "acute-kidney-injury",
        "name": "Acute kidney injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-kidney-injury"
      },
      {
        "slug": "cholangiocarcinoma",
        "name": "Bile duct cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cholangiocarcinoma"
      },
      {
        "slug": "cholangitis",
        "name": "Bile duct inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cholangitis"
      },
      {
        "slug": "biliary-hyperplasia",
        "name": "Biliary hyperplasia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/biliary-hyperplasia"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "decreased-circulating-vitamin-k-concentration",
        "name": "Decreased circulating vitamin K concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-k-concentration"
      },
      {
        "slug": "decreased-circulating-vitamin-d-concentration",
        "name": "Deficient in vitamin D",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-d-concentration"
      },
      {
        "slug": "elevated-gamma-glutamyltransferase-level",
        "name": "Elevated gamma-glutamyltransferase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level"
      },
      {
        "slug": "enlarged-kidney",
        "name": "Enlarged kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlarged-kidney"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "esophageal-varix",
        "name": "Enlarged vein in esophagus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/esophageal-varix"
      },
      {
        "slug": "congenital-hepatic-fibrosis",
        "name": "Excessive buildup of connective tissue and scarring of liver at birth",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-hepatic-fibrosis"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "fat-malabsorption",
        "name": "Fat malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fat-malabsorption"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hepatoblastoma",
        "name": "Hepatoblastoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatoblastoma"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperechogenic-kidneys",
        "name": "Hyperechogenic kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperechogenic-kidneys"
      },
      {
        "slug": "hypersplenism",
        "name": "Hypersplenism",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypersplenism"
      },
      {
        "slug": "increased-serum-bile-acid-concentration",
        "name": "Increased serum bile acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-serum-bile-acid-concentration"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "oliguria",
        "name": "Oliguria",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oliguria"
      },
      {
        "slug": "pancreatic-cysts",
        "name": "Pancreatic cysts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pancreatic-cysts"
      },
      {
        "slug": "periportal-fibrosis",
        "name": "Periportal fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/periportal-fibrosis"
      },
      {
        "slug": "polycystic-kidney-dysplasia",
        "name": "Polycystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "protein-losing-enteropathy",
        "name": "Protein-losing enteropathy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protein-losing-enteropathy"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "reduced-renal-corticomedullary-differentiation",
        "name": "Reduced renal corticomedullary differentiation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-renal-corticomedullary-differentiation"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "hypoventilation",
        "name": "Slow breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoventilation"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "spontaneous-pneumothorax",
        "name": "Spontaneous collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/spontaneous-pneumothorax"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "reduced-circulating-vitamin-a-concentration",
        "name": "Vitamin A deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-circulating-vitamin-a-concentration"
      },
      {
        "slug": "decreased-circulating-vitamin-e-concentration",
        "name": "Vitamin E deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-e-concentration"
      }
    ],
    "related": [
      {
        "slug": "alg5",
        "symbol": "ALG5",
        "name": "ALG5 dolichyl-phosphate beta-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/alg5"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/alg9"
      },
      {
        "slug": "dnajb11",
        "symbol": "DNAJB11",
        "name": "DnaJ heat shock protein family (Hsp40) member B11",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dnajb11"
      },
      {
        "slug": "ganab",
        "symbol": "GANAB",
        "name": "glucosidase II alpha subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ganab"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "name": "intraflagellar transport 140",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ift140"
      },
      {
        "slug": "nek8",
        "symbol": "NEK8",
        "name": "NIMA related kinase 8",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/nek8"
      },
      {
        "slug": "pkd1",
        "symbol": "PKD1",
        "name": "polycystin 1, transient receptor potential channel interacting",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/pkd1"
      },
      {
        "slug": "pkd2",
        "symbol": "PKD2",
        "name": "polycystin 2, transient receptor potential cation channel",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/pkd2"
      },
      {
        "slug": "pkhd1",
        "symbol": "PKHD1",
        "name": "PKHD1 ciliary IPT domain containing fibrocystin/polyductin",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/pkhd1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}