{
  "url": "https://dantelabs.com/el/genes/tia1",
  "gene": {
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    "symbol": "TIA1",
    "name": "TIA1 cytotoxic granule associated RNA binding protein",
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    "location": "2p13.3",
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    "aliases": [
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      "ensemblTranscript": "ENST00000433529.7",
      "refseqTranscript": "NM_022173.4",
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      "build": "GRCh37",
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      "strand": "-"
    },
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      "genes": [
        {
          "symbol": "ANXA4",
          "ensemblId": "ENSG00000196975",
          "biotype": "protein_coding",
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          "end": 69827121,
          "strand": "+",
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        {
          "symbol": "GMCL1",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000310604",
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        {
          "symbol": "SNRNP27",
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          "biotype": "protein_coding",
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        {
          "symbol": "MXD1",
          "ensemblId": "ENSG00000059728",
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          "strand": "+",
          "slug": "mxd1"
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        {
          "symbol": "ASPRV1",
          "ensemblId": "ENSG00000244617",
          "biotype": "protein_coding",
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          "slug": "asprv1"
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        {
          "symbol": "",
          "ensemblId": "ENSG00000293615",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "PCBP1",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "pcbp1"
        },
        {
          "symbol": "C2orf42",
          "ensemblId": "ENSG00000115998",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "c2orf42"
        },
        {
          "symbol": "PCYOX1",
          "ensemblId": "ENSG00000116005",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "SNRPG",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "snrpg"
        },
        {
          "symbol": "TIMCC",
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        },
        {
          "symbol": "TGFA",
          "ensemblId": "ENSG00000163235",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "tgfa"
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        {
          "symbol": "ADD2",
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          "biotype": "protein_coding",
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          "end": 70768499,
          "strand": "-",
          "slug": "add2"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "distal-myopathies",
        "name": "Distal Myopathies",
        "diseases": [
          {
            "mondoId": "MONDO:0011466",
            "name": "Distal Myopathy, Welander Type",
            "genes": 1,
            "inheritance": null,
            "description": "Η distal μυοπάθεια Welander (WDM) είναι μια distal μυοπάθεια που χαρακτηρίζεται από αδυναμία στα άκρα των άνω άκρων, συνήθως στους εκτensores των δακτύλων και του καρπού, η οποία αργότερα εξελίσσεται σε όλους τους μύες της παλάμης και στα άκρα των κάτω άκρων, κυρίως στους εκτensores των δακτύλων του ποδιού και του αστραγάλου.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018949",
            "name": "Distale Myopathie",
            "genes": 16,
            "inheritance": null,
            "description": "Μια ομάδα κληρονομικών μυοπαθειών στις οποίες η αδυναμία ξεκινά στα χέρια, στα αντιβράχια, στα κάτω άκρα ή στα πόδια, και που οφείλονται σε γονίδια όπως τα TTN, DYSF, FLNC, MYH7, ADSS1, SMPX και MATR3.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/distal-myopathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "bulbar-palsy",
        "name": "Bulbar palsy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bulbar-palsy"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "aphasia",
        "name": "Difficulty finding words",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aphasia"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "distal-upper-limb-amyotrophy",
        "name": "Distal upper limb amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-upper-limb-amyotrophy"
      },
      {
        "slug": "distal-upper-limb-muscle-weakness",
        "name": "Distal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness"
      },
      {
        "slug": "emg-myopathic-abnormalities",
        "name": "EMG: myopathic abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "frontotemporal-dementia",
        "name": "Frontotemporal dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontotemporal-dementia"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "intrinsic-hand-muscle-atrophy",
        "name": "Intrinsic hand muscle atrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrinsic-hand-muscle-atrophy"
      },
      {
        "slug": "lewy-bodies",
        "name": "Lewy bodies",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lewy-bodies"
      },
      {
        "slug": "limb-muscle-weakness",
        "name": "Limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-muscle-weakness"
      },
      {
        "slug": "amyotrophic-lateral-sclerosis",
        "name": "Lou Gehrig's disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/amyotrophic-lateral-sclerosis"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "mildly-elevated-creatine-kinase",
        "name": "Mildly elevated creatine kinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "personality-changes",
        "name": "Personality changes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/personality-changes"
      },
      {
        "slug": "rimmed-vacuoles",
        "name": "Rimmed vacuoles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rimmed-vacuoles"
      },
      {
        "slug": "weakness-of-long-finger-extensor-muscles",
        "name": "Weakness of long finger extensor muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weakness-of-long-finger-extensor-muscles"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "name": "adenylosuccinate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/adss1"
      },
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ano5"
      },
      {
        "slug": "cryab",
        "symbol": "CRYAB",
        "name": "crystallin alpha B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cryab"
      },
      {
        "slug": "dnajb4",
        "symbol": "DNAJB4",
        "name": "DnaJ heat shock protein family (Hsp40) member B4",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dnajb4"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "name": "dysferlin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dysf"
      },
      {
        "slug": "flnc",
        "symbol": "FLNC",
        "name": "filamin C",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/flnc"
      },
      {
        "slug": "gipc1",
        "symbol": "GIPC1",
        "name": "GIPC PDZ domain containing family member 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gipc1"
      },
      {
        "slug": "gne",
        "symbol": "GNE",
        "name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gne"
      },
      {
        "slug": "ldb3",
        "symbol": "LDB3",
        "name": "LIM domain binding 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ldb3"
      },
      {
        "slug": "lrp12",
        "symbol": "LRP12",
        "name": "LDL receptor related protein 12",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/lrp12"
      },
      {
        "slug": "matr3",
        "symbol": "MATR3",
        "name": "matrin 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/matr3"
      },
      {
        "slug": "myh7",
        "symbol": "MYH7",
        "name": "myosin heavy chain 7",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/myh7"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}