{
  "url": "https://dantelabs.com/el/genes/atic",
  "gene": {
    "slug": "atic",
    "symbol": "ATIC",
    "name": "5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase",
    "hgnc": "HGNC:794",
    "summary": null,
    "location": "2q35",
    "locusType": "gene with protein product",
    "aliases": [
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      "AICARFT",
      "IMPCHASE"
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    "previousSymbols": [],
    "ensemblId": "ENSG00000138363",
    "entrezId": 471,
    "omim": [
      "601731"
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    "uniprot": [
      "P31939"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 215312059,
      "end": 215349764,
      "strand": "+",
      "ensemblTranscript": "ENST00000236959.14",
      "refseqTranscript": "NM_004044.7",
      "ensemblProtein": "ENSP00000236959.9",
      "refseqProtein": "NP_004035.2",
      "exons": [
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      ],
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
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      "end": 216214487,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 214830912,
      "end": 215830911,
      "genes": [
        {
          "symbol": "ABCA12",
          "ensemblId": "ENSG00000144452",
          "biotype": "protein_coding",
          "start": 214931542,
          "end": 215138626,
          "strand": "-",
          "slug": "abca12"
        },
        {
          "symbol": "FN1",
          "ensemblId": "ENSG00000115414",
          "biotype": "protein_coding",
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          "end": 215436120,
          "strand": "-",
          "slug": "fn1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "congenital-blindness",
        "name": "Blindness present at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congenital-blindness"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "elevated-erythrocyte-aica-ribotide-concentration",
        "name": "Elevated erythrocyte AICA-ribotide concentration",
        "systems": [
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          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-erythrocyte-aica-ribotide-concentration"
      },
      {
        "slug": "elevated-urinary-5-amino-4-imidazolecarboxamide-riboside-level",
        "name": "Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level",
        "systems": [
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          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-5-amino-4-imidazolecarboxamide-riboside-level"
      },
      {
        "slug": "clitoral-hypertrophy",
        "name": "Enlarged clitoris",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clitoral-hypertrophy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "fused-labia-minora",
        "name": "Fused inner lips",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fused-labia-minora"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "prominent-metopic-ridge",
        "name": "Prominent metopic ridge",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-metopic-ridge"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "secundum-atrial-septal-defect",
        "name": "Secundum atrial septal defect",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secundum-atrial-septal-defect"
      },
      {
        "slug": "skin-dimple",
        "name": "Skin dimple",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skin-dimple"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "wide-mouth",
        "name": "Wide mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-mouth"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}