{
  "url": "https://dantelabs.com/cs/genes/smn2",
  "gene": {
    "slug": "smn2",
    "symbol": "SMN2",
    "name": "survival of motor neuron 2, centromeric",
    "hgnc": "HGNC:11118",
    "summary": null,
    "location": "5q13.2",
    "locusType": "gene with protein product",
    "aliases": [
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      "SMNC",
      "GEMIN1",
      "TDRD16B"
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    "previousSymbols": [],
    "ensemblId": "ENSG00000205571",
    "entrezId": 6607,
    "omim": [
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    "uniprot": [
      "Q16637"
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    "model": {
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      "release": "v1.5",
      "chrom": "5",
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      "strand": "+",
      "ensemblTranscript": "ENST00000380743.9",
      "refseqTranscript": "NM_017411.4",
      "ensemblProtein": "ENSP00000370119.4",
      "refseqProtein": "NP_059107.1",
      "exons": [
        {
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    },
    "grch37": {
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      "chrom": "5",
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      "end": 69374349,
      "strand": "+"
    },
    "neighbourhood": {
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      "start": 69563632,
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      "genes": [
        {
          "symbol": "GTF2H2C",
          "ensemblId": "ENSG00000183474",
          "biotype": "protein_coding",
          "start": 69558392,
          "end": 69595221,
          "strand": "+",
          "slug": "gtf2h2c"
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        {
          "symbol": "",
          "ensemblId": "ENSG00000250138",
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          "strand": "+"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000251158",
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        },
        {
          "symbol": "SERF1B",
          "ensemblId": "ENSG00000205572",
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          "strand": "+",
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        {
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          "ensemblId": "ENSG00000293691",
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        {
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        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-achilles-reflex",
        "name": "Absent ankle reflexes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-achilles-reflex"
      },
      {
        "slug": "absent-patellar-reflexes",
        "name": "Absent knee jerk reflex",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-patellar-reflexes"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "degeneration-of-anterior-horn-cells",
        "name": "Degeneration of anterior horn cells",
        "systems": [
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        ],
        "url": "https://dantelabs.com/traits/degeneration-of-anterior-horn-cells"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "emg-chronic-denervation-signs",
        "name": "EMG: chronic denervation signs",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/emg-chronic-denervation-signs"
      },
      {
        "slug": "hand-tremor",
        "name": "Hand tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hand-tremor"
      },
      {
        "slug": "limb-fasciculations",
        "name": "Limb fasciculations",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/limb-fasciculations"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "pelvic-girdle-amyotrophy",
        "name": "Pelvic girdle amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pelvic-girdle-amyotrophy"
      },
      {
        "slug": "pelvic-girdle-muscle-weakness",
        "name": "Pelvic girdle muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pelvic-girdle-muscle-weakness"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "shoulder-girdle-muscle-atrophy",
        "name": "Shoulder girdle muscle wasting",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-atrophy"
      },
      {
        "slug": "spinal-muscular-atrophy",
        "name": "Spinal muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spinal-muscular-atrophy"
      },
      {
        "slug": "tongue-fasciculations",
        "name": "Tongue twitching",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tongue-fasciculations"
      },
      {
        "slug": "proximal-lower-limb-amyotrophy",
        "name": "Wasting of thigh muscle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-lower-limb-amyotrophy"
      },
      {
        "slug": "shoulder-girdle-muscle-weakness",
        "name": "Weak shoulder muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-weakness"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}