{
  "url": "https://dantelabs.com/hu/genes/ghrhr",
  "gene": {
    "slug": "ghrhr",
    "symbol": "GHRHR",
    "name": "growth hormone releasing hormone receptor",
    "hgnc": "HGNC:4266",
    "summary": null,
    "location": "7p14.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000106128",
    "entrezId": 2692,
    "omim": [
      "139191"
    ],
    "uniprot": [
      "Q02643"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 30963953,
      "end": 30979528,
      "strand": "+",
      "ensemblTranscript": "ENST00000326139.7",
      "refseqTranscript": "NM_000823.4",
      "ensemblProtein": "ENSP00000320180.2",
      "refseqProtein": "NP_000814.2",
      "exons": [
        {
          "start": 30963953,
          "end": 30964125
        },
        {
          "start": 30968834,
          "end": 30968936
        },
        {
          "start": 30969063,
          "end": 30969170
        },
        {
          "start": 30969867,
          "end": 30969964
        },
        {
          "start": 30971119,
          "end": 30971216
        },
        {
          "start": 30971963,
          "end": 30972095
        },
        {
          "start": 30973985,
          "end": 30974138
        },
        {
          "start": 30974429,
          "end": 30974489
        },
        {
          "start": 30974971,
          "end": 30975040
        },
        {
          "start": 30975777,
          "end": 30975868
        },
        {
          "start": 30976429,
          "end": 30976558
        },
        {
          "start": 30977281,
          "end": 30977322
        },
        {
          "start": 30979119,
          "end": 30979528
        }
      ],
      "cds": {
        "start": 30964069,
        "end": 30979244
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 30978284,
      "end": 31032869,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 30471741,
      "end": 31471740,
      "genes": [
        {
          "symbol": "NOD1",
          "ensemblId": "ENSG00000106100",
          "biotype": "protein_coding",
          "start": 30424527,
          "end": 30478914,
          "strand": "-",
          "slug": "nod1"
        },
        {
          "symbol": "GGCT",
          "ensemblId": "ENSG00000006625",
          "biotype": "protein_coding",
          "start": 30496616,
          "end": 30504866,
          "strand": "-",
          "slug": "ggct"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000281039",
          "biotype": "protein_coding",
          "start": 30497077,
          "end": 30550761,
          "strand": "-"
        },
        {
          "symbol": "GARS1",
          "ensemblId": "ENSG00000106105",
          "biotype": "protein_coding",
          "start": 30580533,
          "end": 30634033,
          "strand": "+",
          "slug": "gars1"
        },
        {
          "symbol": "CRHR2",
          "ensemblId": "ENSG00000106113",
          "biotype": "protein_coding",
          "start": 30651444,
          "end": 30700129,
          "strand": "-",
          "slug": "crhr2"
        },
        {
          "symbol": "INMT",
          "ensemblId": "ENSG00000241644",
          "biotype": "protein_coding",
          "start": 30697985,
          "end": 30770621,
          "strand": "+",
          "slug": "inmt"
        },
        {
          "symbol": "INMT-MINDY4",
          "ensemblId": "ENSG00000254959",
          "biotype": "protein_coding",
          "start": 30752137,
          "end": 30892081,
          "strand": "+",
          "slug": "inmt-mindy4"
        },
        {
          "symbol": "MINDY4",
          "ensemblId": "ENSG00000106125",
          "biotype": "protein_coding",
          "start": 30771388,
          "end": 30892387,
          "strand": "+",
          "slug": "mindy4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000250424",
          "biotype": "protein_coding",
          "start": 30852273,
          "end": 30923812,
          "strand": "+"
        },
        {
          "symbol": "AQP1",
          "ensemblId": "ENSG00000240583",
          "biotype": "protein_coding",
          "start": 30910755,
          "end": 30925517,
          "strand": "+",
          "slug": "aqp1"
        },
        {
          "symbol": "ADCYAP1R1",
          "ensemblId": "ENSG00000078549",
          "biotype": "protein_coding",
          "start": 31052297,
          "end": 31117204,
          "strand": "+",
          "slug": "adcyap1r1"
        },
        {
          "symbol": "NEUROD6",
          "ensemblId": "ENSG00000164600",
          "biotype": "protein_coding",
          "start": 31337066,
          "end": 31340901,
          "strand": "-",
          "slug": "neurod6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic Hypogonadism",
        "diseases": [
          {
            "mondoId": "MONDO:0018555",
            "name": "Hypogonadotropic Hypogonadism",
            "genes": 49,
            "inheritance": null,
            "description": "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "non-acquired-combined-pituitary-hormone-deficiency",
        "name": "Non-Acquired Combined Pituitary Hormone Deficiency",
        "diseases": [
          {
            "mondoId": "MONDO:0013099",
            "name": "Combined pituitary hormone deficiency, genetic form",
            "genes": 13,
            "inheritance": null,
            "description": "Inherited deficiency of several pituitary hormones, including PROP1, POU1F1, HESX1 and related causes.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/non-acquired-combined-pituitary-hormone-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-circulating-insulin-like-growth-factor-1-concentration",
        "name": "Decreased circulating insulin-like growth factor 1 concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-insulin-like-growth-factor-1-concentration"
      },
      {
        "slug": "decreased-response-to-growth-hormone-stimulation-test",
        "name": "Decreased response to growth hormone stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "impaired-growth-hormone-response-to-insulin-stimulation-test",
        "name": "Impaired growth-hormone response to insulin stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/impaired-growth-hormone-response-to-insulin-stimulation-test"
      },
      {
        "slug": "severe-short-stature",
        "name": "Severe short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-short-stature"
      },
      {
        "slug": "anterior-pituitary-hypoplasia",
        "name": "Underdeveloped pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/anterior-pituitary-hypoplasia"
      }
    ],
    "related": [
      {
        "slug": "foxa2",
        "symbol": "FOXA2",
        "name": "forkhead box A2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/foxa2"
      },
      {
        "slug": "gh1",
        "symbol": "GH1",
        "name": "growth hormone 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/gh1"
      },
      {
        "slug": "hesx1",
        "symbol": "HESX1",
        "name": "HESX homeobox 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/hesx1"
      },
      {
        "slug": "lhx3",
        "symbol": "LHX3",
        "name": "LIM homeobox 3",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/lhx3"
      },
      {
        "slug": "lhx4",
        "symbol": "LHX4",
        "name": "LIM homeobox 4",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/lhx4"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "name": "orthodenticle homeobox 2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/otx2"
      },
      {
        "slug": "pou1f1",
        "symbol": "POU1F1",
        "name": "POU class 1 homeobox 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pou1f1"
      },
      {
        "slug": "prop1",
        "symbol": "PROP1",
        "name": "PROP paired-like homeobox 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/prop1"
      },
      {
        "slug": "rnpc3",
        "symbol": "RNPC3",
        "name": "RNA binding region (RNP1, RRM) containing 3",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/rnpc3"
      },
      {
        "slug": "robo1",
        "symbol": "ROBO1",
        "name": "roundabout guidance receptor 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/robo1"
      },
      {
        "slug": "sox3",
        "symbol": "SOX3",
        "name": "SRY-box transcription factor 3",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/sox3"
      },
      {
        "slug": "tbx19",
        "symbol": "TBX19",
        "name": "T-box transcription factor 19",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/tbx19"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}