{
  "url": "https://dantelabs.com/traits/cholestasis",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "cholestasis",
    "id": "HP:0001396",
    "name": "Slowed or blocked flow of bile from liver",
    "label": "Cholestasis",
    "definition": "Impairment of bile flow due to obstruction in bile ducts.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-digestive-system",
        "name": "Abnormality of the digestive system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-digestive-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormality-of-the-biliary-system",
        "name": "Abnormality of the biliary system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-biliary-system"
      }
    ],
    "narrower": [
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "genes": 192,
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "intrahepatic-cholestasis",
        "name": "Impaired release of bile from liver",
        "genes": 25,
        "url": "https://dantelabs.com/traits/intrahepatic-cholestasis"
      },
      {
        "slug": "cholestatic-liver-disease",
        "name": "Cholestatic liver disease",
        "genes": 17,
        "url": "https://dantelabs.com/traits/cholestatic-liver-disease"
      },
      {
        "slug": "extrahepatic-cholestasis",
        "name": "Extrahepatic cholestasis",
        "genes": 10,
        "url": "https://dantelabs.com/traits/extrahepatic-cholestasis"
      },
      {
        "slug": "acholic-stools",
        "name": "Clay colored stools",
        "genes": 9,
        "url": "https://dantelabs.com/traits/acholic-stools"
      }
    ],
    "genes": [
      {
        "slug": "abcb4",
        "symbol": "ABCB4",
        "hgnc": "HGNC:45",
        "name": "ATP binding cassette subfamily B member 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcb4"
      },
      {
        "slug": "amotl1",
        "symbol": "AMOTL1",
        "hgnc": "HGNC:17811",
        "name": "angiomotin like 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/amotl1"
      },
      {
        "slug": "arg1",
        "symbol": "ARG1",
        "hgnc": "HGNC:663",
        "name": "arginase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arg1"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "hgnc": "HGNC:868",
        "name": "ATPase H+ transporting accessory protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6ap1"
      },
      {
        "slug": "cldn1",
        "symbol": "CLDN1",
        "hgnc": "HGNC:2032",
        "name": "claudin 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cldn1"
      },
      {
        "slug": "dcdc2",
        "symbol": "DCDC2",
        "hgnc": "HGNC:18141",
        "name": "doublecortin domain containing 2",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/dcdc2"
      },
      {
        "slug": "farsb",
        "symbol": "FARSB",
        "hgnc": "HGNC:17800",
        "name": "phenylalanyl-tRNA synthetase subunit beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/farsb"
      },
      {
        "slug": "gfm1",
        "symbol": "GFM1",
        "hgnc": "HGNC:13780",
        "name": "G elongation factor mitochondrial 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gfm1"
      },
      {
        "slug": "jag1",
        "symbol": "JAG1",
        "hgnc": "HGNC:6188",
        "name": "jagged canonical Notch ligand 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jag1"
      },
      {
        "slug": "kif12",
        "symbol": "KIF12",
        "hgnc": "HGNC:21495",
        "name": "kinesin family member 12",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif12"
      },
      {
        "slug": "lbr",
        "symbol": "LBR",
        "hgnc": "HGNC:6518",
        "name": "lamin B receptor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lbr"
      },
      {
        "slug": "lyn",
        "symbol": "LYN",
        "hgnc": "HGNC:6735",
        "name": "LYN proto-oncogene, Src family tyrosine kinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lyn"
      },
      {
        "slug": "mars1",
        "symbol": "MARS1",
        "hgnc": "HGNC:6898",
        "name": "methionyl-tRNA synthetase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mars1"
      },
      {
        "slug": "mpv17",
        "symbol": "MPV17",
        "hgnc": "HGNC:7224",
        "name": "mitochondrial inner membrane protein MPV17",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpv17"
      },
      {
        "slug": "polg2",
        "symbol": "POLG2",
        "hgnc": "HGNC:9180",
        "name": "DNA polymerase gamma 2, accessory subunit",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polg2"
      },
      {
        "slug": "pskh1",
        "symbol": "PSKH1",
        "hgnc": "HGNC:9529",
        "name": "protein serine kinase H1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pskh1"
      },
      {
        "slug": "spout1",
        "symbol": "SPOUT1",
        "hgnc": "HGNC:26933",
        "name": "SPOUT domain containing methyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spout1"
      },
      {
        "slug": "tfam",
        "symbol": "TFAM",
        "hgnc": "HGNC:11741",
        "name": "transcription factor A, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tfam"
      },
      {
        "slug": "unc45a",
        "symbol": "UNC45A",
        "hgnc": "HGNC:30594",
        "name": "unc-45 myosin chaperone A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc45a"
      },
      {
        "slug": "usp53",
        "symbol": "USP53",
        "hgnc": "HGNC:29255",
        "name": "ubiquitin specific peptidase 53",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usp53"
      },
      {
        "slug": "vps33b",
        "symbol": "VPS33B",
        "hgnc": "HGNC:12712",
        "name": "VPS33B late endosome and lysosome associated",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps33b"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "hgnc": "HGNC:61",
        "name": "ATP binding cassette subfamily D member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcd1"
      },
      {
        "slug": "bcap31",
        "symbol": "BCAP31",
        "hgnc": "HGNC:16695",
        "name": "B cell receptor associated protein 31",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcap31"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "hgnc": "HGNC:1020",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/bcs1l"
      },
      {
        "slug": "cyp7a1",
        "symbol": "CYP7A1",
        "hgnc": "HGNC:2651",
        "name": "cytochrome P450 family 7 subfamily A member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp7a1"
      },
      {
        "slug": "gpr35",
        "symbol": "GPR35",
        "hgnc": "HGNC:4492",
        "name": "G protein-coupled receptor 35",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpr35"
      },
      {
        "slug": "mst1",
        "symbol": "MST1",
        "hgnc": "HGNC:7380",
        "name": "macrophage stimulating 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mst1"
      },
      {
        "slug": "pkhd1",
        "symbol": "PKHD1",
        "hgnc": "HGNC:9016",
        "name": "PKHD1 ciliary IPT domain containing fibrocystin/polyductin",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pkhd1"
      },
      {
        "slug": "sema4d",
        "symbol": "SEMA4D",
        "hgnc": "HGNC:10732",
        "name": "semaphorin 4D",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema4d"
      },
      {
        "slug": "slc25a13",
        "symbol": "SLC25A13",
        "hgnc": "HGNC:10983",
        "name": "solute carrier family 25 member 13",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a13"
      },
      {
        "slug": "tcf4",
        "symbol": "TCF4",
        "hgnc": "HGNC:11634",
        "name": "transcription factor 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcf4"
      },
      {
        "slug": "adk",
        "symbol": "ADK",
        "hgnc": "HGNC:257",
        "name": "adenosine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adk"
      },
      {
        "slug": "akr1d1",
        "symbol": "AKR1D1",
        "hgnc": "HGNC:388",
        "name": "aldo-keto reductase family 1 member D1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akr1d1"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "hgnc": "HGNC:23161",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg8"
      },
      {
        "slug": "ap1s1",
        "symbol": "AP1S1",
        "hgnc": "HGNC:559",
        "name": "adaptor related protein complex 1 subunit sigma 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap1s1"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "hgnc": "HGNC:869",
        "name": "ATPase copper transporting alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "cep83",
        "symbol": "CEP83",
        "hgnc": "HGNC:17966",
        "name": "centrosomal protein 83",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep83"
      },
      {
        "slug": "cog6",
        "symbol": "COG6",
        "hgnc": "HGNC:18621",
        "name": "component of oligomeric golgi complex 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cog6"
      },
      {
        "slug": "cyp7b1",
        "symbol": "CYP7B1",
        "hgnc": "HGNC:2652",
        "name": "cytochrome P450 family 7 subfamily B member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp7b1"
      },
      {
        "slug": "def6",
        "symbol": "DEF6",
        "hgnc": "HGNC:2760",
        "name": "DEF6 guanine nucleotide exchange factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/def6"
      },
      {
        "slug": "dzip1l",
        "symbol": "DZIP1L",
        "hgnc": "HGNC:26551",
        "name": "DAZ interacting zinc finger protein 1 like",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dzip1l"
      },
      {
        "slug": "iars1",
        "symbol": "IARS1",
        "hgnc": "HGNC:5330",
        "name": "isoleucyl-tRNA synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars1"
      },
      {
        "slug": "ift56",
        "symbol": "IFT56",
        "hgnc": "HGNC:21882",
        "name": "intraflagellar transport 56",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift56"
      },
      {
        "slug": "med12",
        "symbol": "MED12",
        "hgnc": "HGNC:11957",
        "name": "mediator complex subunit 12",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med12"
      },
      {
        "slug": "pcsk1",
        "symbol": "PCSK1",
        "hgnc": "HGNC:8743",
        "name": "proprotein convertase subtilisin/kexin type 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcsk1"
      },
      {
        "slug": "pomc",
        "symbol": "POMC",
        "hgnc": "HGNC:9201",
        "name": "proopiomelanocortin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pomc"
      },
      {
        "slug": "rbck1",
        "symbol": "RBCK1",
        "hgnc": "HGNC:15864",
        "name": "RANBP2-type and C3HC4-type zinc finger containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbck1"
      },
      {
        "slug": "rfx6",
        "symbol": "RFX6",
        "hgnc": "HGNC:21478",
        "name": "regulatory factor X6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfx6"
      },
      {
        "slug": "saa1",
        "symbol": "SAA1",
        "hgnc": "HGNC:10513",
        "name": "serum amyloid A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/saa1"
      },
      {
        "slug": "shpk",
        "symbol": "SHPK",
        "hgnc": "HGNC:1492",
        "name": "sedoheptulokinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/shpk"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "hgnc": "HGNC:28396",
        "name": "transmembrane protein 67",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem67"
      },
      {
        "slug": "agr2",
        "symbol": "AGR2",
        "hgnc": "HGNC:328",
        "name": "anterior gradient 2, protein disulphide isomerase family member",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/agr2"
      },
      {
        "slug": "anks6",
        "symbol": "ANKS6",
        "hgnc": "HGNC:26724",
        "name": "ankyrin repeat and sterile alpha motif domain containing 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/anks6"
      },
      {
        "slug": "dhrsx",
        "symbol": "DHRSX",
        "hgnc": "HGNC:18399",
        "name": "dehydrogenase/reductase X-linked",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhrsx"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "hgnc": "HGNC:29419",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ears2"
      },
      {
        "slug": "galm",
        "symbol": "GALM",
        "hgnc": "HGNC:24063",
        "name": "galactose mutarotase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/galm"
      },
      {
        "slug": "gnb2",
        "symbol": "GNB2",
        "hgnc": "HGNC:4398",
        "name": "G protein subunit beta 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnb2"
      },
      {
        "slug": "hadha",
        "symbol": "HADHA",
        "hgnc": "HGNC:4801",
        "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hadha"
      },
      {
        "slug": "hadhb",
        "symbol": "HADHB",
        "hgnc": "HGNC:4803",
        "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hadhb"
      },
      {
        "slug": "hsd17b4",
        "symbol": "HSD17B4",
        "hgnc": "HGNC:5213",
        "name": "hydroxysteroid 17-beta dehydrogenase 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hsd17b4"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "ift54",
        "symbol": "IFT54",
        "hgnc": "HGNC:17861",
        "name": "intraflagellar transport 54",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift54"
      },
      {
        "slug": "nphp3",
        "symbol": "NPHP3",
        "hgnc": "HGNC:7907",
        "name": "nephrocystin 3",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nphp3"
      },
      {
        "slug": "pex2",
        "symbol": "PEX2",
        "hgnc": "HGNC:9717",
        "name": "peroxisomal biogenesis factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex2"
      },
      {
        "slug": "phka2",
        "symbol": "PHKA2",
        "hgnc": "HGNC:8926",
        "name": "phosphorylase kinase regulatory subunit alpha 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phka2"
      },
      {
        "slug": "phkg2",
        "symbol": "PHKG2",
        "hgnc": "HGNC:8931",
        "name": "phosphorylase kinase catalytic subunit gamma 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phkg2"
      },
      {
        "slug": "prkar1a",
        "symbol": "PRKAR1A",
        "hgnc": "HGNC:9388",
        "name": "protein kinase cAMP-dependent type I regulatory subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkar1a"
      },
      {
        "slug": "serpina1",
        "symbol": "SERPINA1",
        "hgnc": "HGNC:8941",
        "name": "serpin family A member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/serpina1"
      },
      {
        "slug": "znf699",
        "symbol": "ZNF699",
        "hgnc": "HGNC:24750",
        "name": "zinc finger protein 699",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf699"
      },
      {
        "slug": "gnas",
        "symbol": "GNAS",
        "hgnc": "HGNC:4392",
        "name": "GNAS complex locus",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnas"
      },
      {
        "slug": "blvra",
        "symbol": "BLVRA",
        "hgnc": "HGNC:1062",
        "name": "biliverdin reductase A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/blvra"
      },
      {
        "slug": "fga",
        "symbol": "FGA",
        "hgnc": "HGNC:3661",
        "name": "fibrinogen alpha chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fga"
      },
      {
        "slug": "glis3",
        "symbol": "GLIS3",
        "hgnc": "HGNC:28510",
        "name": "GLIS family zinc finger 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glis3"
      },
      {
        "slug": "ift172",
        "symbol": "IFT172",
        "hgnc": "HGNC:30391",
        "name": "intraflagellar transport 172",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift172"
      },
      {
        "slug": "insr",
        "symbol": "INSR",
        "hgnc": "HGNC:6091",
        "name": "insulin receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/insr"
      },
      {
        "slug": "nek8",
        "symbol": "NEK8",
        "hgnc": "HGNC:13387",
        "name": "NIMA related kinase 8",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek8"
      },
      {
        "slug": "notch2",
        "symbol": "NOTCH2",
        "hgnc": "HGNC:7882",
        "name": "notch receptor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2"
      },
      {
        "slug": "rint1",
        "symbol": "RINT1",
        "hgnc": "HGNC:21876",
        "name": "RAD50 interactor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rint1"
      },
      {
        "slug": "skic3",
        "symbol": "SKIC3",
        "hgnc": "HGNC:23639",
        "name": "SKI3 subunit of superkiller complex",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/skic3"
      },
      {
        "slug": "tbx19",
        "symbol": "TBX19",
        "hgnc": "HGNC:11596",
        "name": "T-box transcription factor 19",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx19"
      },
      {
        "slug": "wdr35",
        "symbol": "WDR35",
        "hgnc": "HGNC:29250",
        "name": "WD repeat domain 35",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr35"
      }
    ]
  }
}