{
  "url": "https://dantelabs.com/de/genes/gla",
  "gene": {
    "slug": "gla",
    "symbol": "GLA",
    "name": "galactosidase alpha",
    "hgnc": "HGNC:4296",
    "summary": null,
    "location": "Xq22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "GALA"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000102393",
    "entrezId": 2717,
    "omim": [
      "300644"
    ],
    "uniprot": [
      "P06280"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 101397803,
      "end": 101407925,
      "strand": "-",
      "ensemblTranscript": "ENST00000218516.4",
      "refseqTranscript": "NM_000169.3",
      "ensemblProtein": "ENSP00000218516.4",
      "refseqProtein": "NP_000160.1",
      "exons": [
        {
          "start": 101397803,
          "end": 101398099
        },
        {
          "start": 101398370,
          "end": 101398567
        },
        {
          "start": 101398785,
          "end": 101398946
        },
        {
          "start": 101400666,
          "end": 101400757
        },
        {
          "start": 101401632,
          "end": 101401809
        },
        {
          "start": 101403811,
          "end": 101403985
        },
        {
          "start": 101407710,
          "end": 101407925
        }
      ],
      "cds": {
        "start": 101397809,
        "end": 101407903
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 100652791,
      "end": 100662913,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 100902864,
      "end": 101902863,
      "genes": [
        {
          "symbol": "XKRX",
          "ensemblId": "ENSG00000182489",
          "biotype": "protein_coding",
          "start": 100886924,
          "end": 100929433,
          "strand": "-",
          "slug": "xkrx"
        },
        {
          "symbol": "ARL13A",
          "ensemblId": "ENSG00000174225",
          "biotype": "protein_coding",
          "start": 100969708,
          "end": 100990831,
          "strand": "+",
          "slug": "arl13a"
        },
        {
          "symbol": "TRMT2B",
          "ensemblId": "ENSG00000188917",
          "biotype": "protein_coding",
          "start": 100973670,
          "end": 101052135,
          "strand": "-",
          "slug": "trmt2b"
        },
        {
          "symbol": "TMEM35A",
          "ensemblId": "ENSG00000126950",
          "biotype": "protein_coding",
          "start": 101078870,
          "end": 101096367,
          "strand": "+",
          "slug": "tmem35a"
        },
        {
          "symbol": "CENPI",
          "ensemblId": "ENSG00000102384",
          "biotype": "protein_coding",
          "start": 101098150,
          "end": 101166126,
          "strand": "+",
          "slug": "cenpi"
        },
        {
          "symbol": "DRP2",
          "ensemblId": "ENSG00000102385",
          "biotype": "protein_coding",
          "start": 101219723,
          "end": 101264502,
          "strand": "+",
          "slug": "drp2"
        },
        {
          "symbol": "TAF7L",
          "ensemblId": "ENSG00000102387",
          "biotype": "protein_coding",
          "start": 101268253,
          "end": 101293057,
          "strand": "-",
          "slug": "taf7l"
        },
        {
          "symbol": "TIMM8A",
          "ensemblId": "ENSG00000126953",
          "biotype": "protein_coding",
          "start": 101320050,
          "end": 101349001,
          "strand": "-",
          "slug": "timm8a"
        },
        {
          "symbol": "BTK",
          "ensemblId": "ENSG00000010671",
          "biotype": "protein_coding",
          "start": 101349338,
          "end": 101390796,
          "strand": "-",
          "slug": "btk"
        },
        {
          "symbol": "RPL36A",
          "ensemblId": "ENSG00000241343",
          "biotype": "protein_coding",
          "start": 101390824,
          "end": 101396155,
          "strand": "+",
          "slug": "rpl36a"
        },
        {
          "symbol": "RPL36A-HNRNPH2",
          "ensemblId": "ENSG00000257529",
          "biotype": "protein_coding",
          "start": 101391011,
          "end": 101412297,
          "strand": "+",
          "slug": "rpl36a-hnrnph2"
        },
        {
          "symbol": "HNRNPH2",
          "ensemblId": "ENSG00000126945",
          "biotype": "protein_coding",
          "start": 101408114,
          "end": 101414778,
          "strand": "+",
          "slug": "hnrnph2"
        },
        {
          "symbol": "ARMCX4",
          "ensemblId": "ENSG00000196440",
          "biotype": "protein_coding",
          "start": 101418269,
          "end": 101535551,
          "strand": "+",
          "slug": "armcx4"
        },
        {
          "symbol": "ARMCX1",
          "ensemblId": "ENSG00000126947",
          "biotype": "protein_coding",
          "start": 101550411,
          "end": 101554704,
          "strand": "+",
          "slug": "armcx1"
        },
        {
          "symbol": "ARMCX6",
          "ensemblId": "ENSG00000198960",
          "biotype": "protein_coding",
          "start": 101615118,
          "end": 101618011,
          "strand": "-",
          "slug": "armcx6"
        },
        {
          "symbol": "ARMCX3",
          "ensemblId": "ENSG00000102401",
          "biotype": "protein_coding",
          "start": 101622797,
          "end": 101627843,
          "strand": "+",
          "slug": "armcx3"
        },
        {
          "symbol": "ARMCX2",
          "ensemblId": "ENSG00000184867",
          "biotype": "protein_coding",
          "start": 101654024,
          "end": 101659924,
          "strand": "-",
          "slug": "armcx2"
        },
        {
          "symbol": "ZMAT1",
          "ensemblId": "ENSG00000166432",
          "biotype": "protein_coding",
          "start": 101882288,
          "end": 101932090,
          "strand": "-",
          "slug": "zmat1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "fabry-disease",
        "name": "Morbus Fabry",
        "diseases": [
          {
            "mondoId": "MONDO:0010526",
            "name": "Morbus Fabry",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "Morbus Fabry (FD) ist eine fortschreitende, erbliche, multisystemische lysosomale Speicherkrankheit, die durch spezifische neurologische, kutane, renale, kardiovaskuläre, kochleovestibuläre und zerebrovaskuläre Manifestationen gekennzeichnet ist.",
            "management": "Enzymersatztherapie (Agalsidase alfa oder Agalsidase beta); Migalastat (Galafold) bei geeigneten GLA-Varianten; Schmerzmanagement (Carbamazepin, Gabapentin); Nephroprotektion mit ACE-Hemmern bzw. AT1-Rezeptorblockern; Management von Herzschrittmachern bzw. Defibrillatoren bei Herzrhythmusstörungen",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [],
              "actionability": 9
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/fabry-disease"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Lysosomale Speicherkrankheit",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Lysosomale Speicherkrankheit (andere und nicht näher bezeichnete Typen)",
            "genes": 59,
            "inheritance": null,
            "description": "Umfasst lysosomale Speicherkrankheiten ohne eigenen Bericht, etwa die Farber-Krankheit und andere ASAH1-assoziierte Erkrankungen, Defizienzen von Prosaposin (PSAP), die multiple Sulfatase-Defizienz, die Mukopolysaccharidosen Typ IX und X sowie die Dorfman-Chanarin-Krankheit; der Erbgang variiert je nach Subtyp und ist am häufigsten autosomal-rezessiv.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": true,
              "inheritance": [],
              "actionability": 9
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/de/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-aortic-valve-morphology",
        "name": "Abnormal aortic valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-aortic-valve-morphology"
      },
      {
        "slug": "abnormal-autonomic-nervous-system-physiology",
        "name": "Abnormal autonomic nervous system physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology"
      },
      {
        "slug": "abnormal-circulating-lipid-concentration",
        "name": "Abnormal circulating lipid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lipid-concentration"
      },
      {
        "slug": "abnormal-endocardium-morphology",
        "name": "Abnormal endocardium morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-endocardium-morphology"
      },
      {
        "slug": "abnormal-glycosphingolipid-metabolism",
        "name": "Abnormal glycosphingolipid metabolism",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-glycosphingolipid-metabolism"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-myocardium-morphology",
        "name": "Abnormal myocardium morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-myocardium-morphology"
      },
      {
        "slug": "abnormal-renal-tubule-morphology",
        "name": "Abnormal renal tubule morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-renal-tubule-morphology"
      },
      {
        "slug": "abnormality-of-the-hand",
        "name": "Abnormality of the hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-hand"
      },
      {
        "slug": "abnormal-femur-morphology",
        "name": "Abnormality of the thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-femur-morphology"
      },
      {
        "slug": "achalasia",
        "name": "Achalasia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/achalasia"
      },
      {
        "slug": "acroparesthesia",
        "name": "Acroparesthesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acroparesthesia"
      },
      {
        "slug": "angina-pectoris",
        "name": "Angina pectoris",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/angina-pectoris"
      },
      {
        "slug": "angiokeratoma",
        "name": "Angiokeratoma",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/angiokeratoma"
      },
      {
        "slug": "angiokeratoma-corporis-diffusum",
        "name": "Angiokeratoma corporis diffusum",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/angiokeratoma-corporis-diffusum"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "bundle-branch-block",
        "name": "Bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bundle-branch-block"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chronic-pain",
        "name": "Chronic pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-pain"
      },
      {
        "slug": "chronic-pulmonary-obstruction",
        "name": "Chronic pulmonary obstruction",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-pulmonary-obstruction"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "cornea-verticillata",
        "name": "Cornea verticillata",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cornea-verticillata"
      },
      {
        "slug": "corneal-dystrophy",
        "name": "Corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-dystrophy"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "decreased-alpha-galactosidase-a-activity",
        "name": "Decreased alpha-galactosidase A activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-alpha-galactosidase-a-activity"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "diabetes-insipidus",
        "name": "Diabetes insipidus",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-insipidus"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "elevated-circulating-globotriaosylceramide-concentration",
        "name": "Elevated circulating globotriaosylceramide concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-globotriaosylceramide-concentration"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "emphysema",
        "name": "Emphysema",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emphysema"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "subcutaneous-nodule",
        "name": "Firm lump under the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subcutaneous-nodule"
      },
      {
        "slug": "thick-lower-lip-vermilion",
        "name": "Full lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion"
      },
      {
        "slug": "glomerulopathy",
        "name": "Glomerulopathy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glomerulopathy"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "heat-intolerance",
        "name": "Heat intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/heat-intolerance"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "atrioventricular-block",
        "name": "Interruption of electrical communication between upper and lower chambers of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrioventricular-block"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "lipiduria",
        "name": "Lipiduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/lipiduria"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "transient-ischemic-attack",
        "name": "Mini stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/transient-ischemic-attack"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "mucosal-telangiectasiae",
        "name": "Mucosal telangiectasiae",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mucosal-telangiectasiae"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "fasciculations",
        "name": "Muscle twitch",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/fasciculations"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "nausea-and-vomiting",
        "name": "Nausea and vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nausea-and-vomiting"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "airway-obstruction",
        "name": "Obstructive lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/airway-obstruction"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "tinnitus",
        "name": "Ringing in ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tinnitus"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "conjunctival-telangiectasia",
        "name": "Small dilated blood vessels near membrane covering front of eye and eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conjunctival-telangiectasia"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "lymphedema",
        "name": "Swelling caused by excess lymph fluid under skin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphedema"
      },
      {
        "slug": "telangiectasia-of-the-skin",
        "name": "Telangiectasia of the skin",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/telangiectasia-of-the-skin"
      },
      {
        "slug": "tenesmus",
        "name": "Tenesmus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/tenesmus"
      },
      {
        "slug": "urinary-mulberry-cells",
        "name": "Urinary mulberry cells",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/urinary-mulberry-cells"
      },
      {
        "slug": "ventricular-septal-hypertrophy",
        "name": "Ventricular septal hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-septal-hypertrophy"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "abhd5",
        "symbol": "ABHD5",
        "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/abhd5"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "name": "aspartylglucosaminidase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aga"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ap5z1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arsa"
      },
      {
        "slug": "arsb",
        "symbol": "ARSB",
        "name": "arylsulfatase B",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arsb"
      },
      {
        "slug": "arsk",
        "symbol": "ARSK",
        "name": "arylsulfatase family member K",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arsk"
      },
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "name": "N-acylsphingosine amidohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/asah1"
      },
      {
        "slug": "clcn6",
        "symbol": "CLCN6",
        "name": "Cl-/H+ antiporter 6",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/clcn6"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cln3"
      },
      {
        "slug": "cln5",
        "symbol": "CLN5",
        "name": "CLN5 lysosomal BMP synthase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cln5"
      },
      {
        "slug": "cln6",
        "symbol": "CLN6",
        "name": "CLN6 transmembrane ER protein",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cln6"
      },
      {
        "slug": "cln8",
        "symbol": "CLN8",
        "name": "CLN8 transmembrane ER and ERGIC protein",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cln8"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 364,
    "url": "https://dantelabs.com/genes/gla/variants",
    "items": [
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        "url": "https://dantelabs.com/genes/gla/variants/a20d"
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        "url": "https://dantelabs.com/genes/gla/variants/a143p"
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        "url": "https://dantelabs.com/genes/gla/variants/a230t"
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        "url": "https://dantelabs.com/genes/gla/variants/a257v"
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        "url": "https://dantelabs.com/genes/gla/variants/a285p"
      },
      {
        "slug": "a288vfs29",
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        "url": "https://dantelabs.com/genes/gla/variants/a288vfs29"
      },
      {
        "slug": "a291t",
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        "position": 101398498,
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        "url": "https://dantelabs.com/genes/gla/variants/a291t"
      },
      {
        "slug": "a292p",
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        "symbol": "GLA",
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}