{
  "url": "https://dantelabs.com/ko/genes/slc25a13",
  "gene": {
    "slug": "slc25a13",
    "symbol": "SLC25A13",
    "name": "solute carrier family 25 member 13",
    "hgnc": "HGNC:10983",
    "summary": null,
    "location": "7q21.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CITRIN",
      "ARALAR2"
    ],
    "previousSymbols": [
      "CTLN2"
    ],
    "ensemblId": "ENSG00000004864",
    "entrezId": 10165,
    "omim": [
      "603859"
    ],
    "uniprot": [
      "Q9UJS0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 96120220,
      "end": 96322098,
      "strand": "-",
      "ensemblTranscript": "ENST00000265631.10",
      "refseqTranscript": "NM_014251.3",
      "ensemblProtein": "ENSP00000265631.6",
      "refseqProtein": "NP_055066.1",
      "exons": [
        {
          "start": 96120220,
          "end": 96121377
        },
        {
          "start": 96121655,
          "end": 96121745
        },
        {
          "start": 96121839,
          "end": 96121997
        },
        {
          "start": 96131743,
          "end": 96131881
        },
        {
          "start": 96146556,
          "end": 96146696
        },
        {
          "start": 96170045,
          "end": 96170125
        },
        {
          "start": 96171472,
          "end": 96171524
        },
        {
          "start": 96184277,
          "end": 96184435
        },
        {
          "start": 96184927,
          "end": 96185011
        },
        {
          "start": 96189294,
          "end": 96189378
        },
        {
          "start": 96189581,
          "end": 96189674
        },
        {
          "start": 96191109,
          "end": 96191247
        },
        {
          "start": 96193037,
          "end": 96193183
        },
        {
          "start": 96208838,
          "end": 96208977
        },
        {
          "start": 96234802,
          "end": 96234917
        },
        {
          "start": 96277196,
          "end": 96277338
        },
        {
          "start": 96296898,
          "end": 96296951
        },
        {
          "start": 96321942,
          "end": 96322098
        }
      ],
      "cds": {
        "start": 96121191,
        "end": 96321956
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 95749532,
      "end": 95951459,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 95721159,
      "end": 96721158,
      "genes": [
        {
          "symbol": "DYNC1I1",
          "ensemblId": "ENSG00000158560",
          "biotype": "protein_coding",
          "start": 95772459,
          "end": 96110915,
          "strand": "+",
          "slug": "dync1i1"
        },
        {
          "symbol": "SEM1",
          "ensemblId": "ENSG00000127922",
          "biotype": "protein_coding",
          "start": 96481626,
          "end": 96709893,
          "strand": "-",
          "slug": "sem1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "citrullinemia",
        "name": "시트룰린혈증",
        "diseases": [
          {
            "mondoId": "MONDO:0015991",
            "name": "시트룰린혈증",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "시트룰린혈증은 요소 회로 대사와 암모니아 해독에 관여하는 상염색체 열성 유전 질환으로, 혈청 내 시트룰린과 암모니아 농도가 높아지는 것이 특징입니다. 증상은 매우 다양하게 나타날 수 있으며, 신생아에서는 무기력, 발작, 혼수를 동반한 고암모니아혈증성 뇌병증이 나타날 수 있고, 모든 연령대에서 간 기능 장애가 생길 수 있습니다. 소아나 성인에게는 고암모니아혈증 발작과 신경정신 증상이 나타날 수 있으며, 일부 경우에는 증상이 전혀 없을 수도 있습니다(신생아 선별검사에서 발견되기도 합니다). 시트룰린혈증은 서로 다른 유전자에 의해 발생하는 두 가지 주요 유형으로 나뉩니다. 하나는 시트룰린혈증 제1형으로, 급성 신생아기 시트룰린혈증 제1형과 성인기 발병 시트룰린혈증 제1형을 포함합니다. 다른 하나는 시트린 결핍증으로, 성인기 발병 시트룰린혈증 제2형과 시트린 결핍으로 인한 신생아 간내 담즙정체증을 포함합니다.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 8
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/citrullinemia"
      },
      {
        "slug": "urea-cycle-disorder",
        "name": "요소 회로 장애",
        "diseases": [
          {
            "mondoId": "MONDO:0004739",
            "name": "요소 회로 장애",
            "genes": 11,
            "inheritance": null,
            "description": "요소 회로에 필요한 효소 중 하나가 결핍되어 체내에 암모니아가 축적되는 것이 특징인 유전성 선천성 대사 이상입니다.",
            "management": "질소 제거 요법(벤조산나트륨, 글리세롤 페닐부티레이트/Ravicti), 필수 아미노산 보충을 병행한 단백질 제한 식이, 응급 고암모니아혈증 대응 프로토콜, 간 이식(근치적 치료), OTC에 대한 mRNA 치료 임상시험, NAGS 결핍에 대한 카글루탐산",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 8
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/urea-cycle-disorder"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-alanine-concentration",
        "name": "Abnormal circulating alanine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-alanine-concentration"
      },
      {
        "slug": "abnormal-circulating-arginine-concentration",
        "name": "Abnormal circulating arginine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-arginine-concentration"
      },
      {
        "slug": "abnormal-circulating-glutamine-concentration",
        "name": "Abnormal circulating glutamine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-glutamine-concentration"
      },
      {
        "slug": "abnormal-circulating-lipid-concentration",
        "name": "Abnormal circulating lipid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lipid-concentration"
      },
      {
        "slug": "abnormal-circulating-serine-concentration",
        "name": "Abnormal circulating serine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-serine-concentration"
      },
      {
        "slug": "abnormal-eating-behavior",
        "name": "Abnormal eating behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-eating-behavior"
      },
      {
        "slug": "acute-hyperammonemia",
        "name": "Acute hyperammonemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/acute-hyperammonemia"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "argininosuccinic-aciduria",
        "name": "Argininosuccinic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/argininosuccinic-aciduria"
      },
      {
        "slug": "asterixis",
        "name": "Asterixis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/asterixis"
      },
      {
        "slug": "ballooning-hepatocyte-degeneration",
        "name": "Ballooning hepatocyte degeneration",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ballooning-hepatocyte-degeneration"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "cerebral-edema",
        "name": "Brain swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-edema"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "confusion",
        "name": "Confusion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/confusion"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "decreased-body-mass-index",
        "name": "Decreased body mass index",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-body-mass-index"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-circulating-hdl-c-concentration",
        "name": "Decreased circulating high-density lipoprotein cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-hdl-c-concentration"
      },
      {
        "slug": "hypoproteinemia",
        "name": "Decreased protein levels in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoproteinemia"
      },
      {
        "slug": "delayed-menarche",
        "name": "Delayed start of first period",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-menarche"
      },
      {
        "slug": "delirium",
        "name": "Delirium",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delirium"
      },
      {
        "slug": "delusion",
        "name": "Delusions",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delusion"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "insomnia",
        "name": "Difficulty staying or falling asleep",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/insomnia"
      },
      {
        "slug": "drowsiness",
        "name": "Drowsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/drowsiness"
      },
      {
        "slug": "echolalia",
        "name": "Echoing another person's speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/echolalia"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "hyperlysinemia",
        "name": "Elevated blood lysine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperlysinemia"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-alpha-fetoprotein-concentration",
        "name": "Elevated circulating alpha-fetoprotein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alpha-fetoprotein-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-citrulline-concentration",
        "name": "Elevated circulating citrulline concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-citrulline-concentration"
      },
      {
        "slug": "elevated-gamma-glutamyltransferase-level",
        "name": "Elevated gamma-glutamyltransferase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "enuresis",
        "name": "Enuresis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enuresis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "fluctuations-in-consciousness",
        "name": "Fluctuations in consciousness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fluctuations-in-consciousness"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "hepatic-encephalopathy",
        "name": "Hepatic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-encephalopathy"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hepatocellular-carcinoma",
        "name": "Hepatocellular carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatocellular-carcinoma"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "hyperargininemia",
        "name": "High blood arginine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperargininemia"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "hyperthreoninemia",
        "name": "High blood threonine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperthreoninemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hypergalactosemia",
        "name": "Hypergalactosemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypergalactosemia"
      },
      {
        "slug": "intrahepatic-cholestasis",
        "name": "Impaired release of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/intrahepatic-cholestasis"
      },
      {
        "slug": "increased-circulating-lactate-dehydrogenase-concentration",
        "name": "Increased circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "elevated-circulating-ldl-c-concentration",
        "name": "Increased circulating LDL level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-ldl-c-concentration"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "hypermethioninemia",
        "name": "Increased methionine in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypermethioninemia"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "increased-serum-bile-acid-concentration",
        "name": "Increased serum bile acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-serum-bile-acid-concentration"
      },
      {
        "slug": "hypertyrosinemia",
        "name": "Increased tyrosine in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertyrosinemia"
      },
      {
        "slug": "increased-urinary-glycerol",
        "name": "Increased urinary glycerol",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-urinary-glycerol"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "ketonuria",
        "name": "Ketonuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ketonuria"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "macrovesicular-hepatic-steatosis",
        "name": "Macrovesicular hepatic steatosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrovesicular-hepatic-steatosis"
      },
      {
        "slug": "mania",
        "name": "Manic",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mania"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "microvesicular-hepatic-steatosis",
        "name": "Microvesicular hepatic steatosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microvesicular-hepatic-steatosis"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "night-sweats",
        "name": "Night sweats",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/night-sweats"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "poor-appetite",
        "name": "Poor appetite",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-appetite"
      },
      {
        "slug": "portal-fibrosis",
        "name": "Portal fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/portal-fibrosis"
      },
      {
        "slug": "portal-inflammation",
        "name": "Portal inflammation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-inflammation"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "protein-craving",
        "name": "Protein craving",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/protein-craving"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "restlessness",
        "name": "Restlessness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/restlessness"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "sleep-terror",
        "name": "Waking up screaming",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-terror"
      }
    ],
    "related": [
      {
        "slug": "ass1",
        "symbol": "ASS1",
        "name": "argininosuccinate synthase 1",
        "shared": 2,
        "url": "https://dantelabs.com/ko/genes/ass1"
      },
      {
        "slug": "arg1",
        "symbol": "ARG1",
        "name": "arginase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/arg1"
      },
      {
        "slug": "asl",
        "symbol": "ASL",
        "name": "argininosuccinate lyase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/asl"
      },
      {
        "slug": "ca5a",
        "symbol": "CA5A",
        "name": "carbonic anhydrase 5A",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/ca5a"
      },
      {
        "slug": "cps1",
        "symbol": "CPS1",
        "name": "carbamoyl-phosphate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cps1"
      },
      {
        "slug": "glud1",
        "symbol": "GLUD1",
        "name": "glutamate dehydrogenase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/glud1"
      },
      {
        "slug": "mccc1",
        "symbol": "MCCC1",
        "name": "methylcrotonyl-CoA carboxylase subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/mccc1"
      },
      {
        "slug": "nags",
        "symbol": "NAGS",
        "name": "N-acetylglutamate synthase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/nags"
      },
      {
        "slug": "otc",
        "symbol": "OTC",
        "name": "ornithine transcarbamylase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/otc"
      },
      {
        "slug": "slc25a15",
        "symbol": "SLC25A15",
        "name": "solute carrier family 25 member 15",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/slc25a15"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}