{
  "url": "https://dantelabs.com/tr/genes/neurod1",
  "gene": {
    "slug": "neurod1",
    "symbol": "NEUROD1",
    "name": "neuronal differentiation 1",
    "hgnc": "HGNC:7762",
    "summary": null,
    "location": "2q31.3",
    "locusType": "gene with protein product",
    "aliases": [
      "BETA2",
      "BHF-1",
      "NeuroD",
      "bHLHa3",
      "MODY6"
    ],
    "previousSymbols": [
      "NEUROD"
    ],
    "ensemblId": "ENSG00000162992",
    "entrezId": 4760,
    "omim": [
      "601724"
    ],
    "uniprot": [
      "Q13562"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 181676467,
      "end": 181680517,
      "strand": "-",
      "ensemblTranscript": "ENST00000295108.4",
      "refseqTranscript": "NM_002500.5",
      "ensemblProtein": "ENSP00000295108.3",
      "refseqProtein": "NP_002491.3",
      "exons": [
        {
          "start": 181676467,
          "end": 181678871
        },
        {
          "start": 181680430,
          "end": 181680517
        }
      ],
      "cds": {
        "start": 181677790,
        "end": 181678860
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 182537815,
      "end": 182545603,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 181178492,
      "end": 182178491,
      "genes": [
        {
          "symbol": "ITGA4",
          "ensemblId": "ENSG00000115232",
          "biotype": "protein_coding",
          "start": 181457014,
          "end": 181538940,
          "strand": "+",
          "slug": "itga4"
        },
        {
          "symbol": "CERKL",
          "ensemblId": "ENSG00000188452",
          "biotype": "protein_coding",
          "start": 181535041,
          "end": 181680665,
          "strand": "-",
          "slug": "cerkl"
        },
        {
          "symbol": "ITPRID2",
          "ensemblId": "ENSG00000138434",
          "biotype": "protein_coding",
          "start": 181841292,
          "end": 181930738,
          "strand": "+",
          "slug": "itprid2"
        },
        {
          "symbol": "PPP1R1C",
          "ensemblId": "ENSG00000150722",
          "biotype": "protein_coding",
          "start": 181954241,
          "end": 182131398,
          "strand": "+",
          "slug": "ppp1r1c"
        },
        {
          "symbol": "PDE1A",
          "ensemblId": "ENSG00000115252",
          "biotype": "protein_coding",
          "start": 182139968,
          "end": 182523359,
          "strand": "-",
          "slug": "pde1a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes Mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes Mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "Insülin üretiminin azalması veya insülin direnci/duyarsızlaşması nedeniyle anormal derecede yüksek kan şekeri düzeyleriyle karakterize metabolik bir bozukluk.",
            "management": "Evre 2 semptom öncesi T1D için teplizumab (Tzield) (FDA onayı 2022); klinik T1D başlangıcında insülin replasmanı; yüksek riskli yakınlar için TrialNet otoantikor taraması; kapalı döngü insülin uygulama sistemleri",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/diabetes-mellitus"
      },
      {
        "slug": "maturity-onset-diabetes-of-the-young",
        "name": "Genç Erişkinlerde Başlangıçlı Diyabet (MODY)",
        "diseases": [
          {
            "mondoId": "MONDO:0018911",
            "name": "Genç Erişkinlerde Başlangıçlı Diyabet (MODY)",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "MODY (genç erişkinlerde başlangıçlı diyabet), genellikle 10-45 yaş arasında başlayan, endojen insülin üretiminin sürdüğü, pankreas beta hücrelerine yönelik otoimmünite bulunmayan, obezite ve insülin direnci görülmeyen ve bazı alt tiplerde pankreas dışı belirtiler de gösterebilen, nadir, ailesel, klinik ve genetik açıdan heterojen bir diyabet türüdür.",
            "management": "GCK-MODY: tedavi gerektirmez; HNF1A/HNF4A-MODY: düşük doz sülfonilüreler; HNF1B-MODY: insülin ve böbrek takibi; poligenik T2D: yaşam tarzı değişikliği, metformin, GLP-1 agonistleri ve SGLT2 inhibitörleri, eşlik eden hastalık profiline göre",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/maturity-onset-diabetes-of-the-young"
      },
      {
        "slug": "neonatal-diabetes-mellitus",
        "name": "Neonatal Diyabetes Mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0016391",
            "name": "Neonatal diyabetes mellitus",
            "genes": 20,
            "inheritance": null,
            "description": "Yaşamın ilk aylarında teşhis edilen, kalıcı veya geçici olabilen diyabettir; insülin üretimi veya salgılanmasındaki tek genli bozukluklardan kaynaklanır.",
            "management": "KCNJ11 veya ABCC8 ile ilişkili neonatal diyabeti olan kişilerin çoğu, insülin enjeksiyonlarından sülfonilüre tabletlerine geçebilir; bu geçiş çoğu zaman kan şekeri kontrolünde daha iyi sonuçlarla birlikte gelir.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/neonatal-diabetes-mellitus"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-c-peptide-concentration",
        "name": "Abnormal circulating C-peptide concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-c-peptide-concentration"
      },
      {
        "slug": "abnormal-circulating-insulin-concentration",
        "name": "Abnormal circulating insulin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-insulin-concentration"
      },
      {
        "slug": "abnormal-oral-glucose-tolerance",
        "name": "Abnormal oral glucose tolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-oral-glucose-tolerance"
      },
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "systems": [],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "slug": "autoimmune-antibody-positivity",
        "name": "Autoimmune antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/autoimmune-antibody-positivity"
      },
      {
        "slug": "large-for-gestational-age",
        "name": "Birth weight > 90th percentile",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/large-for-gestational-age"
      },
      {
        "slug": "insulin-resistance",
        "name": "Body fails to respond to insulin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/insulin-resistance"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "diabetic-ketoacidosis",
        "name": "Diabetic ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/diabetic-ketoacidosis"
      },
      {
        "slug": "elevated-hemoglobin-a1c",
        "name": "Elevated hemoglobin A1c",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-hemoglobin-a1c"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "slug": "glucose-intolerance",
        "name": "Glucose intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glucose-intolerance"
      },
      {
        "slug": "hepatocellular-adenoma",
        "name": "Hepatocellular adenoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatocellular-adenoma"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "slug": "hyperinsulinemic-hypoglycemia",
        "name": "Hyperinsulinemic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperinsulinemic-hypoglycemia"
      },
      {
        "slug": "hypoinsulinemia",
        "name": "Hypoinsulinemia",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoinsulinemia"
      },
      {
        "slug": "exocrine-pancreatic-insufficiency",
        "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency"
      },
      {
        "slug": "increased-waist-to-hip-ratio",
        "name": "Increased waist to hip ratio",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/increased-waist-to-hip-ratio"
      },
      {
        "slug": "insulin-resistant-diabetes-mellitus",
        "name": "Insulin resistant diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/insulin-resistant-diabetes-mellitus"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "neonatal-hypoglycemia",
        "name": "Low blood sugar in newborn",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-hypoglycemia"
      },
      {
        "slug": "maturity-onset-diabetes-of-the-young",
        "name": "Maturity-onset diabetes of the young",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/maturity-onset-diabetes-of-the-young"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "type-ii-diabetes-mellitus",
        "name": "Noninsulin-dependent diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "overweight",
        "name": "Overweight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/overweight"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "transient-neonatal-diabetes-mellitus",
        "name": "Transient neonatal diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/transient-neonatal-diabetes-mellitus"
      },
      {
        "slug": "pancreatic-hypoplasia",
        "name": "Underdeveloped pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pancreatic-hypoplasia"
      }
    ],
    "related": [
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/abcc8"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/gck"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "name": "HNF1 homeobox B",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/hnf1b"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "name": "insulin",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/ins"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/kcnj11"
      },
      {
        "slug": "pdx1",
        "symbol": "PDX1",
        "name": "pancreatic and duodenal homeobox 1",
        "shared": 3,
        "url": "https://dantelabs.com/tr/genes/pdx1"
      },
      {
        "slug": "appl1",
        "symbol": "APPL1",
        "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/appl1"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/bscl2"
      },
      {
        "slug": "cel",
        "symbol": "CEL",
        "name": "carboxyl ester lipase",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/cel"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/eif2b1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/gata6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}