{
  "url": "https://dantelabs.com/et/genes/man2b2",
  "gene": {
    "slug": "man2b2",
    "symbol": "MAN2B2",
    "name": "mannosidase alpha class 2B member 2",
    "hgnc": "HGNC:29623",
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    "aliases": [
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      "EpMAN"
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    "previousSymbols": [],
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    "entrezId": 23324,
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    "uniprot": [
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      "strand": "+",
      "ensemblTranscript": "ENST00000285599.8",
      "refseqTranscript": "NM_015274.3",
      "ensemblProtein": "ENSP00000285599.3",
      "refseqProtein": "NP_056089.1",
      "exons": [
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    },
    "grch37": {
      "build": "GRCh37",
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      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "C4orf50",
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        },
        {
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        {
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        {
          "symbol": "PPP2R2C",
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          "strand": "-",
          "slug": "ppp2r2c"
        },
        {
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          "ensemblId": "ENSG00000179010",
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          "strand": "+",
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        {
          "symbol": "MRFAP1L2",
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        {
          "symbol": "S100P",
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        {
          "symbol": "MRFAP1L1",
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        {
          "symbol": "BLOC1S4",
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          "strand": "+",
          "slug": "bloc1s4"
        },
        {
          "symbol": "KIAA0232",
          "ensemblId": "ENSG00000170871",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "kiaa0232"
        },
        {
          "symbol": "TBC1D14",
          "ensemblId": "ENSG00000132405",
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          "slug": "tbc1d14"
        },
        {
          "symbol": "CFAP184",
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          "biotype": "protein_coding",
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          "slug": "cfap184"
        },
        {
          "symbol": "TADA2B",
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        {
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "grpel1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "abnormally-low-t-cell-receptor-excision-circle-level",
        "name": "Abnormally low T cell receptor excision circle level",
        "systems": [
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          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormally-low-t-cell-receptor-excision-circle-level"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "choking-episodes",
        "name": "Choking episodes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/choking-episodes"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "recurrent-oral-thrush",
        "name": "Chronic oral thrush",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-oral-thrush"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "decreased-antigen-specific-t-cell-proliferation",
        "name": "Decreased antigen-specific T cell proliferation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-antigen-specific-t-cell-proliferation"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-naive-cd4-t-cell-proportion",
        "name": "Decreased naive CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-naive-cd4-t-cell-proportion"
      },
      {
        "slug": "decreased-naive-cd8-t-cell-proportion",
        "name": "Decreased naive CD8+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-naive-cd8-t-cell-proportion"
      },
      {
        "slug": "decreased-total-cd4-t-cell-proportion",
        "name": "Decreased total CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "delayed-ability-to-crawl",
        "name": "Delayed ability to crawl",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-crawl"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "drowsiness",
        "name": "Drowsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/drowsiness"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "encephalomalacia",
        "name": "Encephalomalacia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/encephalomalacia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "episodic-vomiting",
        "name": "Episodic vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/episodic-vomiting"
      },
      {
        "slug": "gliosis",
        "name": "Gliosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gliosis"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "elevated-erythrocyte-sedimentation-rate",
        "name": "High ESR",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate"
      },
      {
        "slug": "hip-osteoarthritis",
        "name": "Hip osteoarthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hip-osteoarthritis"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "increased-cd21low-b-cell-proportion",
        "name": "Increased CD21low B cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-cd21low-b-cell-proportion"
      },
      {
        "slug": "increased-circulating-ige-concentration",
        "name": "Increased circulating IgE concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-ige-concentration"
      },
      {
        "slug": "increased-plasmablast-proportion",
        "name": "Increased plasmablast proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-plasmablast-proportion"
      },
      {
        "slug": "vasculitis",
        "name": "Inflammation of blood vessel",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vasculitis"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "inverted-cd4-cd8-ratio",
        "name": "Inverted CD4:CD8 ratio",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inverted-cd4-cd8-ratio"
      },
      {
        "slug": "knee-osteoarthritis",
        "name": "Knee osteoarthritis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/knee-osteoarthritis"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "pineal-cyst",
        "name": "Pineal cyst",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pineal-cyst"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "recurrent-oral-herpes",
        "name": "Recurrent oral herpes",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-oral-herpes"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "short-chin",
        "name": "Short chin",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-chin"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "thromboembolic-stroke",
        "name": "Thromboembolic stroke",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thromboembolic-stroke"
      },
      {
        "slug": "hemiparesis",
        "name": "Weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hemiparesis"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "wrist-arthritis",
        "name": "Wrist arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wrist-arthritis"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}