{
  "url": "https://dantelabs.com/el/genes/myl1",
  "gene": {
    "slug": "myl1",
    "symbol": "MYL1",
    "name": "myosin light chain 1",
    "hgnc": "HGNC:7582",
    "summary": null,
    "location": "2q34",
    "locusType": "gene with protein product",
    "aliases": [
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      "MLC1F",
      "MLC3F",
      "MLC-1",
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    "previousSymbols": [],
    "ensemblId": "ENSG00000168530",
    "entrezId": 4632,
    "omim": [
      "160780"
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    "uniprot": [
      "P05976"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
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      "start": 210290150,
      "end": 210315174,
      "strand": "-",
      "ensemblTranscript": "ENST00000352451.4",
      "refseqTranscript": "NM_079420.3",
      "ensemblProtein": "ENSP00000307280.4",
      "refseqProtein": "NP_524144.1",
      "exons": [
        {
          "start": 210290150,
          "end": 210290467
        },
        {
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        },
        {
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        }
      ],
      "cds": {
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        "end": 210315042
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 211154874,
      "end": 211179914,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 209802662,
      "end": 210802661,
      "genes": [
        {
          "symbol": "UNC80",
          "ensemblId": "ENSG00000144406",
          "biotype": "protein_coding",
          "start": 209771569,
          "end": 209999300,
          "strand": "+",
          "slug": "unc80"
        },
        {
          "symbol": "RPE",
          "ensemblId": "ENSG00000197713",
          "biotype": "protein_coding",
          "start": 210002565,
          "end": 210027529,
          "strand": "+",
          "slug": "rpe"
        },
        {
          "symbol": "KANSL1L",
          "ensemblId": "ENSG00000144445",
          "biotype": "protein_coding",
          "start": 210021026,
          "end": 210172182,
          "strand": "-",
          "slug": "kansl1l"
        },
        {
          "symbol": "ACADL",
          "ensemblId": "ENSG00000115361",
          "biotype": "protein_coding",
          "start": 210187000,
          "end": 210225447,
          "strand": "-",
          "slug": "acadl"
        },
        {
          "symbol": "LANCL1",
          "ensemblId": "ENSG00000115365",
          "biotype": "protein_coding",
          "start": 210424562,
          "end": 210477652,
          "strand": "-",
          "slug": "lancl1"
        },
        {
          "symbol": "CPS1",
          "ensemblId": "ENSG00000021826",
          "biotype": "protein_coding",
          "start": 210477641,
          "end": 210679109,
          "strand": "+",
          "slug": "cps1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "axial-muscle-weakness",
        "name": "Axial muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-muscle-weakness"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation",
        "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hip-contracture",
        "name": "Hip contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-contracture"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "increased-endomysial-connective-tissue",
        "name": "Increased endomysial connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-endomysial-connective-tissue"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "myopathic-facies",
        "name": "Myopathic facies",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopathic-facies"
      },
      {
        "slug": "nasogastric-tube-feeding",
        "name": "Nasogastric tube feeding",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nasogastric-tube-feeding"
      },
      {
        "slug": "neck-muscle-weakness",
        "name": "Neck muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neck-muscle-weakness"
      },
      {
        "slug": "persistent-head-lag",
        "name": "Persistent head lag",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/persistent-head-lag"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "type-1-muscle-fiber-predominance",
        "name": "Type 1 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}