{
  "url": "https://dantelabs.com/ro/genes/bhlha9",
  "gene": {
    "slug": "bhlha9",
    "symbol": "BHLHA9",
    "name": "basic helix-loop-helix family member a9",
    "hgnc": "HGNC:35126",
    "summary": null,
    "location": "17p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "BHLHF42"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000205899",
    "entrezId": 727857,
    "omim": [
      "615416"
    ],
    "uniprot": [
      "Q7RTU4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 1270444,
      "end": 1271815,
      "strand": "+",
      "ensemblTranscript": "ENST00000391429.2",
      "refseqTranscript": "NM_001164405.2",
      "ensemblProtein": "ENSP00000375248.1",
      "refseqProtein": "NP_001157877.1",
      "exons": [
        {
          "start": 1270444,
          "end": 1271815
        }
      ],
      "cds": {
        "start": 1270564,
        "end": 1271271
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 1173853,
      "end": 1174754,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 771130,
      "end": 1771129,
      "genes": [
        {
          "symbol": "GLOD4",
          "ensemblId": "ENSG00000167699",
          "biotype": "protein_coding",
          "start": 757097,
          "end": 782341,
          "strand": "-",
          "slug": "glod4"
        },
        {
          "symbol": "MRM3",
          "ensemblId": "ENSG00000171861",
          "biotype": "protein_coding",
          "start": 782342,
          "end": 792510,
          "strand": "+",
          "slug": "mrm3"
        },
        {
          "symbol": "NXN",
          "ensemblId": "ENSG00000167693",
          "biotype": "protein_coding",
          "start": 799310,
          "end": 979816,
          "strand": "-",
          "slug": "nxn"
        },
        {
          "symbol": "TIMM22",
          "ensemblId": "ENSG00000177370",
          "biotype": "protein_coding",
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          "end": 1003671,
          "strand": "+",
          "slug": "timm22"
        },
        {
          "symbol": "ABR",
          "ensemblId": "ENSG00000159842",
          "biotype": "protein_coding",
          "start": 1003519,
          "end": 1229738,
          "strand": "-",
          "slug": "abr"
        },
        {
          "symbol": "TRARG1",
          "ensemblId": "ENSG00000184811",
          "biotype": "protein_coding",
          "start": 1279554,
          "end": 1300978,
          "strand": "+",
          "slug": "trarg1"
        },
        {
          "symbol": "YWHAE",
          "ensemblId": "ENSG00000108953",
          "biotype": "protein_coding",
          "start": 1344275,
          "end": 1400326,
          "strand": "-",
          "slug": "ywhae"
        },
        {
          "symbol": "CRK",
          "ensemblId": "ENSG00000167193",
          "biotype": "protein_coding",
          "start": 1420689,
          "end": 1463162,
          "strand": "-",
          "slug": "crk"
        },
        {
          "symbol": "MYO1C",
          "ensemblId": "ENSG00000197879",
          "biotype": "protein_coding",
          "start": 1464186,
          "end": 1492707,
          "strand": "-",
          "slug": "myo1c"
        },
        {
          "symbol": "INPP5K",
          "ensemblId": "ENSG00000132376",
          "biotype": "protein_coding",
          "start": 1494571,
          "end": 1516759,
          "strand": "-",
          "slug": "inpp5k"
        },
        {
          "symbol": "PITPNA",
          "ensemblId": "ENSG00000174238",
          "biotype": "protein_coding",
          "start": 1517718,
          "end": 1562861,
          "strand": "-",
          "slug": "pitpna"
        },
        {
          "symbol": "SLC43A2",
          "ensemblId": "ENSG00000167703",
          "biotype": "protein_coding",
          "start": 1569268,
          "end": 1630103,
          "strand": "-",
          "slug": "slc43a2"
        },
        {
          "symbol": "SCARF1",
          "ensemblId": "ENSG00000074660",
          "biotype": "protein_coding",
          "start": 1633848,
          "end": 1646122,
          "strand": "-",
          "slug": "scarf1"
        },
        {
          "symbol": "RILP",
          "ensemblId": "ENSG00000167705",
          "biotype": "protein_coding",
          "start": 1646138,
          "end": 1650083,
          "strand": "-",
          "slug": "rilp"
        },
        {
          "symbol": "PRPF8",
          "ensemblId": "ENSG00000174231",
          "biotype": "protein_coding",
          "start": 1650624,
          "end": 1684909,
          "strand": "-",
          "slug": "prpf8"
        },
        {
          "symbol": "TLCD2",
          "ensemblId": "ENSG00000185561",
          "biotype": "protein_coding",
          "start": 1688598,
          "end": 1710639,
          "strand": "-",
          "slug": "tlcd2"
        },
        {
          "symbol": "WDR81",
          "ensemblId": "ENSG00000167716",
          "biotype": "protein_coding",
          "start": 1716523,
          "end": 1738599,
          "strand": "+",
          "slug": "wdr81"
        },
        {
          "symbol": "SERPINF2",
          "ensemblId": "ENSG00000167711",
          "biotype": "protein_coding",
          "start": 1742069,
          "end": 1755271,
          "strand": "+",
          "slug": "serpinf2"
        },
        {
          "symbol": "SERPINF1",
          "ensemblId": "ENSG00000132386",
          "biotype": "protein_coding",
          "start": 1761958,
          "end": 1777627,
          "strand": "+",
          "slug": "serpinf1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "toenail-dysplasia",
        "name": "Abnormal toenail development",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/toenail-dysplasia"
      },
      {
        "slug": "abnormal-fibula-morphology",
        "name": "Abnormality of the calf bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-fibula-morphology"
      },
      {
        "slug": "abnormal-femur-morphology",
        "name": "Abnormality of the thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-femur-morphology"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-ulna",
        "name": "Absence/underdevelopment of inner forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-ulna"
      },
      {
        "slug": "patellar-aplasia",
        "name": "Absent kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patellar-aplasia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-hallux",
        "name": "Absent/small big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-hallux"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-middle-phalanx-of-the-5th-finger",
        "name": "Absent/small middle bone of pinky finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-middle-phalanx-of-the-5th-finger"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-middle-phalanges-of-the-hand",
        "name": "Absent/small middle finger bone of the hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-middle-phalanges-of-the-hand"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-middle-phalanx-of-the-2nd-finger",
        "name": "Absent/small middle index finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-middle-phalanx-of-the-2nd-finger"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-tibia",
        "name": "Absent/small shankbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-tibia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-thumb",
        "name": "Absent/small thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-thumb"
      },
      {
        "slug": "nail-dysplasia",
        "name": "Atypical nail growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/nail-dysplasia"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "ectrodactyly",
        "name": "Cleft hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ectrodactyly"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "cutaneous-syndactyly",
        "name": "Cutaneous syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cutaneous-syndactyly"
      },
      {
        "slug": "postaxial-hand-polydactyly",
        "name": "Extra little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly"
      },
      {
        "slug": "preaxial-hand-polydactyly",
        "name": "Extra thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/preaxial-hand-polydactyly"
      },
      {
        "slug": "finger-syndactyly",
        "name": "Finger syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/finger-syndactyly"
      },
      {
        "slug": "finger-symphalangism",
        "name": "Fused finger bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/finger-symphalangism"
      },
      {
        "slug": "proximal-fifth-finger-symphalangism",
        "name": "Fused innermost and middle bones of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/proximal-fifth-finger-symphalangism"
      },
      {
        "slug": "hallux-symphalangism",
        "name": "Fused innermost bone of big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hallux-symphalangism"
      },
      {
        "slug": "metacarpal-synostosis",
        "name": "Fused long bones of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metacarpal-synostosis"
      },
      {
        "slug": "toe-syndactyly",
        "name": "Fused toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/toe-syndactyly"
      },
      {
        "slug": "synostosis-of-carpal-bones",
        "name": "Fusion of wrist bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/synostosis-of-carpal-bones"
      },
      {
        "slug": "hand-monodactyly",
        "name": "Hand monodactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hand-monodactyly"
      },
      {
        "slug": "limitation-of-joint-mobility",
        "name": "Limitation of joint mobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limitation-of-joint-mobility"
      },
      {
        "slug": "polydactyly",
        "name": "More than five fingers or toes on hands or feet",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polydactyly"
      },
      {
        "slug": "bifid-femur",
        "name": "Notched thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bifid-femur"
      },
      {
        "slug": "omphalocele",
        "name": "Omphalocele",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/omphalocele"
      },
      {
        "slug": "overfolded-helix",
        "name": "Overfolded ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/overfolded-helix"
      },
      {
        "slug": "camptodactyly",
        "name": "Permanent flexion of the finger or toe",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/camptodactyly"
      },
      {
        "slug": "popliteal-pterygium",
        "name": "Popliteal pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/popliteal-pterygium"
      },
      {
        "slug": "short-hallux",
        "name": "Short big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-hallux"
      },
      {
        "slug": "fibular-hypoplasia",
        "name": "Short calf bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fibular-hypoplasia"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-palm",
        "name": "Short palm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-palm"
      },
      {
        "slug": "short-femur",
        "name": "Short thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-femur"
      },
      {
        "slug": "short-thumb",
        "name": "Short thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-thumb"
      },
      {
        "slug": "single-transverse-palmar-crease",
        "name": "Single transverse palmar crease",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/single-transverse-palmar-crease"
      },
      {
        "slug": "small-nail",
        "name": "Small nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/small-nail"
      },
      {
        "slug": "split-hand",
        "name": "Split hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/split-hand"
      },
      {
        "slug": "2-3-toe-syndactyly",
        "name": "Webbed 2nd and 3rd toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/2-3-toe-syndactyly"
      },
      {
        "slug": "3-4-finger-osseus-syndactyly",
        "name": "Webbed 3rd-4th fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/3-4-finger-osseus-syndactyly"
      },
      {
        "slug": "syndactyly",
        "name": "Webbed fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/syndactyly"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}