{
  "url": "https://dantelabs.com/traits/pointed-chin",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "pointed-chin",
    "id": "HP:0000307",
    "name": "Pointed chin",
    "definition": "A marked tapering of the lower face to the chin.",
    "synonyms": [
      "Pointy chin",
      "Small pointed chin",
      "Witch's chin",
      "Pointed mention region"
    ],
    "systems": [
      {
        "slug": "abnormality-of-head-or-neck",
        "name": "Abnormality of head or neck",
        "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck"
      }
    ],
    "broader": [
      {
        "slug": "abnormality-of-the-chin",
        "name": "Abnormality of the chin",
        "url": "https://dantelabs.com/traits/abnormality-of-the-chin"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "atp6v1e1",
        "symbol": "ATP6V1E1",
        "hgnc": "HGNC:857",
        "name": "ATPase H+ transporting V1 subunit E1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1e1"
      },
      {
        "slug": "cdh11",
        "symbol": "CDH11",
        "hgnc": "HGNC:1750",
        "name": "cadherin 11",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cdh11"
      },
      {
        "slug": "chd8",
        "symbol": "CHD8",
        "hgnc": "HGNC:20153",
        "name": "chromodomain helicase DNA binding protein 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd8"
      },
      {
        "slug": "elfn1",
        "symbol": "ELFN1",
        "hgnc": "HGNC:33154",
        "name": "extracellular leucine rich repeat and fibronectin type III domain containing 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elfn1"
      },
      {
        "slug": "eri1",
        "symbol": "ERI1",
        "hgnc": "HGNC:23994",
        "name": "exoribonuclease 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eri1"
      },
      {
        "slug": "fgd1",
        "symbol": "FGD1",
        "hgnc": "HGNC:3663",
        "name": "FYVE, RhoGEF and PH domain containing 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgd1"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "polr3a",
        "symbol": "POLR3A",
        "hgnc": "HGNC:30074",
        "name": "RNA polymerase III subunit A",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/polr3a"
      },
      {
        "slug": "porcn",
        "symbol": "PORCN",
        "hgnc": "HGNC:17652",
        "name": "porcupine O-acyltransferase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/porcn"
      },
      {
        "slug": "slc37a4",
        "symbol": "SLC37A4",
        "hgnc": "HGNC:4061",
        "name": "solute carrier family 37 member 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc37a4"
      },
      {
        "slug": "spop",
        "symbol": "SPOP",
        "hgnc": "HGNC:11254",
        "name": "speckle type BTB/POZ protein",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/spop"
      },
      {
        "slug": "spout1",
        "symbol": "SPOUT1",
        "hgnc": "HGNC:26933",
        "name": "SPOUT domain containing methyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spout1"
      },
      {
        "slug": "tafazzin",
        "symbol": "TAFAZZIN",
        "hgnc": "HGNC:11577",
        "name": "tafazzin, phospholipid-lysophospholipid transacylase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tafazzin"
      },
      {
        "slug": "tbc1d7",
        "symbol": "TBC1D7",
        "hgnc": "HGNC:21066",
        "name": "TBC1 domain family member 7",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tbc1d7"
      },
      {
        "slug": "tlk2",
        "symbol": "TLK2",
        "hgnc": "HGNC:11842",
        "name": "tousled like kinase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tlk2"
      },
      {
        "slug": "tm2d3",
        "symbol": "TM2D3",
        "hgnc": "HGNC:24128",
        "name": "TM2 domain containing 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tm2d3"
      },
      {
        "slug": "tmem94",
        "symbol": "TMEM94",
        "hgnc": "HGNC:28983",
        "name": "transmembrane protein 94",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem94"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "hgnc": "HGNC:132",
        "name": "actin beta",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/actb"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "hgnc": "HGNC:144",
        "name": "actin gamma 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/actg1"
      },
      {
        "slug": "baz1b",
        "symbol": "BAZ1B",
        "hgnc": "HGNC:961",
        "name": "bromodomain adjacent to zinc finger domain 1B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/baz1b"
      },
      {
        "slug": "bud23",
        "symbol": "BUD23",
        "hgnc": "HGNC:16405",
        "name": "BUD23 rRNA methyltransferase and ribosome maturation factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bud23"
      },
      {
        "slug": "casz1",
        "symbol": "CASZ1",
        "hgnc": "HGNC:26002",
        "name": "castor zinc finger 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/casz1"
      },
      {
        "slug": "clip2",
        "symbol": "CLIP2",
        "hgnc": "HGNC:2586",
        "name": "CAP-Gly domain containing linker protein 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clip2"
      },
      {
        "slug": "dnajc30",
        "symbol": "DNAJC30",
        "hgnc": "HGNC:16410",
        "name": "DnaJ heat shock protein family (Hsp40) member C30",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc30"
      },
      {
        "slug": "eif4h",
        "symbol": "EIF4H",
        "hgnc": "HGNC:12741",
        "name": "eukaryotic translation initiation factor 4H",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif4h"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "hgnc": "HGNC:3327",
        "name": "elastin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eln"
      },
      {
        "slug": "fkbp6",
        "symbol": "FKBP6",
        "hgnc": "HGNC:3722",
        "name": "FKBP prolyl isomerase family member 6 (inactive)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkbp6"
      },
      {
        "slug": "gabrd",
        "symbol": "GABRD",
        "hgnc": "HGNC:4084",
        "name": "gamma-aminobutyric acid type A receptor subunit delta",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrd"
      },
      {
        "slug": "gtf2i",
        "symbol": "GTF2I",
        "hgnc": "HGNC:4659",
        "name": "general transcription factor IIi",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2i"
      },
      {
        "slug": "gtf2ird1",
        "symbol": "GTF2IRD1",
        "hgnc": "HGNC:4661",
        "name": "GTF2I repeat domain containing 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird1"
      },
      {
        "slug": "gtf2ird2",
        "symbol": "GTF2IRD2",
        "hgnc": "HGNC:30775",
        "name": "GTF2I repeat domain containing 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird2"
      },
      {
        "slug": "hspg2",
        "symbol": "HSPG2",
        "hgnc": "HGNC:5273",
        "name": "heparan sulfate proteoglycan 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspg2"
      },
      {
        "slug": "kcnab2",
        "symbol": "KCNAB2",
        "hgnc": "HGNC:6229",
        "name": "potassium voltage-gated channel subfamily A regulatory beta subunit 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnab2"
      },
      {
        "slug": "limk1",
        "symbol": "LIMK1",
        "hgnc": "HGNC:6613",
        "name": "LIM domain kinase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/limk1"
      },
      {
        "slug": "luzp1",
        "symbol": "LUZP1",
        "hgnc": "HGNC:14985",
        "name": "leucine zipper protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/luzp1"
      },
      {
        "slug": "mettl27",
        "symbol": "METTL27",
        "hgnc": "HGNC:19068",
        "name": "methyltransferase like 27",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mettl27"
      },
      {
        "slug": "mmp23b",
        "symbol": "MMP23B",
        "hgnc": "HGNC:7171",
        "name": "matrix metallopeptidase 23B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp23b"
      },
      {
        "slug": "ncf1",
        "symbol": "NCF1",
        "hgnc": "HGNC:7660",
        "name": "neutrophil cytosolic factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf1"
      },
      {
        "slug": "nsd1",
        "symbol": "NSD1",
        "hgnc": "HGNC:14234",
        "name": "nuclear receptor binding SET domain protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd1"
      },
      {
        "slug": "obsl1",
        "symbol": "OBSL1",
        "hgnc": "HGNC:29092",
        "name": "obscurin like cytoskeletal adaptor 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/obsl1"
      },
      {
        "slug": "pdpn",
        "symbol": "PDPN",
        "hgnc": "HGNC:29602",
        "name": "podoplanin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdpn"
      },
      {
        "slug": "prdm16",
        "symbol": "PRDM16",
        "hgnc": "HGNC:14000",
        "name": "PR/SET domain 16",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prdm16"
      },
      {
        "slug": "prkcz",
        "symbol": "PRKCZ",
        "hgnc": "HGNC:9412",
        "name": "protein kinase C zeta",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkcz"
      },
      {
        "slug": "rere",
        "symbol": "RERE",
        "hgnc": "HGNC:9965",
        "name": "arginine-glutamic acid dipeptide repeats",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rere"
      },
      {
        "slug": "rfc2",
        "symbol": "RFC2",
        "hgnc": "HGNC:9970",
        "name": "replication factor C subunit 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfc2"
      },
      {
        "slug": "scube3",
        "symbol": "SCUBE3",
        "hgnc": "HGNC:13655",
        "name": "signal peptide, CUB domain and EGF like domain containing 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scube3"
      },
      {
        "slug": "ski",
        "symbol": "SKI",
        "hgnc": "HGNC:10896",
        "name": "SKI proto-oncogene",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ski"
      },
      {
        "slug": "spen",
        "symbol": "SPEN",
        "hgnc": "HGNC:17575",
        "name": "spen family transcriptional repressor",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/spen"
      },
      {
        "slug": "stx1a",
        "symbol": "STX1A",
        "hgnc": "HGNC:11433",
        "name": "syntaxin 1A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stx1a"
      },
      {
        "slug": "tbl2",
        "symbol": "TBL2",
        "hgnc": "HGNC:11586",
        "name": "transducin beta like 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbl2"
      },
      {
        "slug": "tmem270",
        "symbol": "TMEM270",
        "hgnc": "HGNC:23018",
        "name": "transmembrane protein 270",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem270"
      },
      {
        "slug": "ube4b",
        "symbol": "UBE4B",
        "hgnc": "HGNC:12500",
        "name": "ubiquitination factor E4B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube4b"
      },
      {
        "slug": "vps37d",
        "symbol": "VPS37D",
        "hgnc": "HGNC:18287",
        "name": "VPS37D subunit of ESCRT-I",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps37d"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "hgnc": "HGNC:21316",
        "name": "ankyrin repeat domain 11",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ankrd11"
      },
      {
        "slug": "bcr",
        "symbol": "BCR",
        "hgnc": "HGNC:1014",
        "name": "BCR activator of RhoGEF and GTPase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcr"
      },
      {
        "slug": "camta1",
        "symbol": "CAMTA1",
        "hgnc": "HGNC:18806",
        "name": "calmodulin binding transcription activator 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/camta1"
      },
      {
        "slug": "ccdc8",
        "symbol": "CCDC8",
        "hgnc": "HGNC:25367",
        "name": "coiled-coil domain containing 8 subunit of 3M complex",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ccdc8"
      },
      {
        "slug": "champ1",
        "symbol": "CHAMP1",
        "hgnc": "HGNC:20311",
        "name": "chromosome alignment maintaining phosphoprotein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/champ1"
      },
      {
        "slug": "chd1",
        "symbol": "CHD1",
        "hgnc": "HGNC:1915",
        "name": "chromodomain helicase DNA binding protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/chd1"
      },
      {
        "slug": "chrng",
        "symbol": "CHRNG",
        "hgnc": "HGNC:1967",
        "name": "cholinergic receptor nicotinic gamma subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chrng"
      },
      {
        "slug": "crkl",
        "symbol": "CRKL",
        "hgnc": "HGNC:2363",
        "name": "CRK like proto-oncogene, adaptor protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crkl"
      },
      {
        "slug": "cul7",
        "symbol": "CUL7",
        "hgnc": "HGNC:21024",
        "name": "cullin 7",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cul7"
      },
      {
        "slug": "dnm1l",
        "symbol": "DNM1L",
        "hgnc": "HGNC:2973",
        "name": "dynamin 1L",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm1l"
      },
      {
        "slug": "dock3",
        "symbol": "DOCK3",
        "hgnc": "HGNC:2989",
        "name": "dedicator of cytokinesis 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dock3"
      },
      {
        "slug": "fgf3",
        "symbol": "FGF3",
        "hgnc": "HGNC:3681",
        "name": "fibroblast growth factor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgf3"
      },
      {
        "slug": "fra10ac1",
        "symbol": "FRA10AC1",
        "hgnc": "HGNC:1162",
        "name": "FRA10A associated CGG repeat 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fra10ac1"
      },
      {
        "slug": "gon4l",
        "symbol": "GON4L",
        "hgnc": "HGNC:25973",
        "name": "gon-4 like",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gon4l"
      },
      {
        "slug": "kat6a",
        "symbol": "KAT6A",
        "hgnc": "HGNC:13013",
        "name": "lysine acetyltransferase 6A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kat6a"
      },
      {
        "slug": "kdm3b",
        "symbol": "KDM3B",
        "hgnc": "HGNC:1337",
        "name": "lysine demethylase 3B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm3b"
      },
      {
        "slug": "man1b1",
        "symbol": "MAN1B1",
        "hgnc": "HGNC:6823",
        "name": "mannosidase alpha class 1B member 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/man1b1"
      },
      {
        "slug": "mapk1",
        "symbol": "MAPK1",
        "hgnc": "HGNC:6871",
        "name": "mitogen-activated protein kinase 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mapk1"
      },
      {
        "slug": "meis2",
        "symbol": "MEIS2",
        "hgnc": "HGNC:7001",
        "name": "Meis homeobox 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/meis2"
      },
      {
        "slug": "mras",
        "symbol": "MRAS",
        "hgnc": "HGNC:7227",
        "name": "muscle RAS oncogene homolog",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mras"
      },
      {
        "slug": "myh3",
        "symbol": "MYH3",
        "hgnc": "HGNC:7573",
        "name": "myosin heavy chain 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh3"
      },
      {
        "slug": "pdcd6ip",
        "symbol": "PDCD6IP",
        "hgnc": "HGNC:8766",
        "name": "programmed cell death 6 interacting protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdcd6ip"
      },
      {
        "slug": "pdgfrb",
        "symbol": "PDGFRB",
        "hgnc": "HGNC:8804",
        "name": "platelet derived growth factor receptor beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfrb"
      },
      {
        "slug": "pgm2l1",
        "symbol": "PGM2L1",
        "hgnc": "HGNC:20898",
        "name": "phosphoglucomutase 2 like 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgm2l1"
      },
      {
        "slug": "plk4",
        "symbol": "PLK4",
        "hgnc": "HGNC:11397",
        "name": "polo like kinase 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plk4"
      },
      {
        "slug": "plod3",
        "symbol": "PLOD3",
        "hgnc": "HGNC:9083",
        "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plod3"
      },
      {
        "slug": "pogz",
        "symbol": "POGZ",
        "hgnc": "HGNC:18801",
        "name": "pogo transposable element derived with ZNF domain",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pogz"
      },
      {
        "slug": "pou4f1",
        "symbol": "POU4F1",
        "hgnc": "HGNC:9218",
        "name": "POU class 4 homeobox 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pou4f1"
      },
      {
        "slug": "prkg2",
        "symbol": "PRKG2",
        "hgnc": "HGNC:9416",
        "name": "protein kinase cGMP-dependent 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkg2"
      },
      {
        "slug": "pum1",
        "symbol": "PUM1",
        "hgnc": "HGNC:14957",
        "name": "pumilio RNA binding family member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pum1"
      },
      {
        "slug": "pus7",
        "symbol": "PUS7",
        "hgnc": "HGNC:26033",
        "name": "pseudouridine synthase 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pus7"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rmrp"
      },
      {
        "slug": "sel1l",
        "symbol": "SEL1L",
        "hgnc": "HGNC:10717",
        "name": "SEL1L adaptor subunit of SYVN1 ubiquitin ligase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sel1l"
      },
      {
        "slug": "setd2",
        "symbol": "SETD2",
        "hgnc": "HGNC:18420",
        "name": "SET domain containing 2, histone lysine methyltransferase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/setd2"
      },
      {
        "slug": "sin3a",
        "symbol": "SIN3A",
        "hgnc": "HGNC:19353",
        "name": "SIN3 transcription regulator family member A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sin3a"
      },
      {
        "slug": "taf1",
        "symbol": "TAF1",
        "hgnc": "HGNC:11535",
        "name": "TATA-box binding protein associated factor 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/taf1"
      },
      {
        "slug": "tubgcp4",
        "symbol": "TUBGCP4",
        "hgnc": "HGNC:16691",
        "name": "tubulin gamma complex component 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubgcp4"
      },
      {
        "slug": "tubgcp6",
        "symbol": "TUBGCP6",
        "hgnc": "HGNC:18127",
        "name": "tubulin gamma complex component 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubgcp6"
      },
      {
        "slug": "yy1",
        "symbol": "YY1",
        "hgnc": "HGNC:12856",
        "name": "YY1 transcription factor",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/yy1"
      },
      {
        "slug": "zeb2",
        "symbol": "ZEB2",
        "hgnc": "HGNC:14881",
        "name": "zinc finger E-box binding homeobox 2",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/zeb2"
      },
      {
        "slug": "zfx",
        "symbol": "ZFX",
        "hgnc": "HGNC:12869",
        "name": "zinc finger protein X-linked",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zfx"
      },
      {
        "slug": "znf148",
        "symbol": "ZNF148",
        "hgnc": "HGNC:12933",
        "name": "zinc finger protein 148",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf148"
      },
      {
        "slug": "ascc3",
        "symbol": "ASCC3",
        "hgnc": "HGNC:18697",
        "name": "activating signal cointegrator 1 complex subunit 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ascc3"
      },
      {
        "slug": "bicra",
        "symbol": "BICRA",
        "hgnc": "HGNC:4332",
        "name": "BRD4 interacting chromatin remodeling complex associated protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bicra"
      },
      {
        "slug": "cbfb",
        "symbol": "CBFB",
        "hgnc": "HGNC:1539",
        "name": "core-binding factor subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cbfb"
      },
      {
        "slug": "cdh2",
        "symbol": "CDH2",
        "hgnc": "HGNC:1759",
        "name": "cadherin 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh2"
      },
      {
        "slug": "cdk10",
        "symbol": "CDK10",
        "hgnc": "HGNC:1770",
        "name": "cyclin dependent kinase 10",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdk10"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "creld1",
        "symbol": "CRELD1",
        "hgnc": "HGNC:14630",
        "name": "CRELD disulfide isomerase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/creld1"
      },
      {
        "slug": "dhx37",
        "symbol": "DHX37",
        "hgnc": "HGNC:17210",
        "name": "DEAH-box helicase 37",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhx37"
      },
      {
        "slug": "dot1l",
        "symbol": "DOT1L",
        "hgnc": "HGNC:24948",
        "name": "DOT1 like histone lysine methyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dot1l"
      },
      {
        "slug": "fbxo11",
        "symbol": "FBXO11",
        "hgnc": "HGNC:13590",
        "name": "F-box protein 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo11"
      },
      {
        "slug": "fem1b",
        "symbol": "FEM1B",
        "hgnc": "HGNC:3649",
        "name": "fem-1 homolog B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fem1b"
      },
      {
        "slug": "fn1",
        "symbol": "FN1",
        "hgnc": "HGNC:3778",
        "name": "fibronectin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fn1"
      },
      {
        "slug": "hs2st1",
        "symbol": "HS2ST1",
        "hgnc": "HGNC:5193",
        "name": "heparan sulfate 2-O-sulfotransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hs2st1"
      },
      {
        "slug": "insr",
        "symbol": "INSR",
        "hgnc": "HGNC:6091",
        "name": "insulin receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/insr"
      },
      {
        "slug": "jarid2",
        "symbol": "JARID2",
        "hgnc": "HGNC:6196",
        "name": "jumonji and AT-rich interaction domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jarid2"
      },
      {
        "slug": "kif11",
        "symbol": "KIF11",
        "hgnc": "HGNC:6388",
        "name": "kinesin family member 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif11"
      },
      {
        "slug": "kifbp",
        "symbol": "KIFBP",
        "hgnc": "HGNC:23419",
        "name": "kinesin family binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kifbp"
      },
      {
        "slug": "lmnb1",
        "symbol": "LMNB1",
        "hgnc": "HGNC:6637",
        "name": "lamin B1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmnb1"
      },
      {
        "slug": "lztr1",
        "symbol": "LZTR1",
        "hgnc": "HGNC:6742",
        "name": "leucine zipper like post translational regulator 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lztr1"
      },
      {
        "slug": "madd",
        "symbol": "MADD",
        "hgnc": "HGNC:6766",
        "name": "MAP kinase activating death domain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/madd"
      },
      {
        "slug": "med12l",
        "symbol": "MED12L",
        "hgnc": "HGNC:16050",
        "name": "mediator complex subunit 12L",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med12l"
      },
      {
        "slug": "mesd",
        "symbol": "MESD",
        "hgnc": "HGNC:13520",
        "name": "mesoderm development LRP chaperone",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mesd"
      },
      {
        "slug": "nav3",
        "symbol": "NAV3",
        "hgnc": "HGNC:15998",
        "name": "neuron navigator 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nav3"
      },
      {
        "slug": "nfix",
        "symbol": "NFIX",
        "hgnc": "HGNC:7788",
        "name": "nuclear factor I X",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfix"
      },
      {
        "slug": "ngly1",
        "symbol": "NGLY1",
        "hgnc": "HGNC:17646",
        "name": "N-glycanase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ngly1"
      },
      {
        "slug": "nr2f1",
        "symbol": "NR2F1",
        "hgnc": "HGNC:7975",
        "name": "nuclear receptor subfamily 2 group F member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr2f1"
      },
      {
        "slug": "otud5",
        "symbol": "OTUD5",
        "hgnc": "HGNC:25402",
        "name": "OTU deubiquitinase 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otud5"
      },
      {
        "slug": "pigu",
        "symbol": "PIGU",
        "hgnc": "HGNC:15791",
        "name": "phosphatidylinositol glycan anchor biosynthesis class U",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigu"
      },
      {
        "slug": "set",
        "symbol": "SET",
        "hgnc": "HGNC:10760",
        "name": "SET nuclear proto-oncogene",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/set"
      },
      {
        "slug": "setbp1",
        "symbol": "SETBP1",
        "hgnc": "HGNC:15573",
        "name": "SET binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setbp1"
      },
      {
        "slug": "shank3",
        "symbol": "SHANK3",
        "hgnc": "HGNC:14294",
        "name": "SH3 and multiple ankyrin repeat domains 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/shank3"
      },
      {
        "slug": "snx14",
        "symbol": "SNX14",
        "hgnc": "HGNC:14977",
        "name": "sorting nexin 14",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snx14"
      },
      {
        "slug": "spred2",
        "symbol": "SPRED2",
        "hgnc": "HGNC:17722",
        "name": "sprouty related EVH1 domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spred2"
      },
      {
        "slug": "thoc6",
        "symbol": "THOC6",
        "hgnc": "HGNC:28369",
        "name": "THO complex subunit 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thoc6"
      },
      {
        "slug": "trip12",
        "symbol": "TRIP12",
        "hgnc": "HGNC:12306",
        "name": "thyroid hormone receptor interactor 12",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip12"
      },
      {
        "slug": "ttc5",
        "symbol": "TTC5",
        "hgnc": "HGNC:19274",
        "name": "tetratricopeptide repeat domain 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttc5"
      },
      {
        "slug": "ugdh",
        "symbol": "UGDH",
        "hgnc": "HGNC:12525",
        "name": "UDP-glucose 6-dehydrogenase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ugdh"
      },
      {
        "slug": "wdr83os",
        "symbol": "WDR83OS",
        "hgnc": "HGNC:30203",
        "name": "WD repeat domain 83 opposite strand",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr83os"
      },
      {
        "slug": "znf292",
        "symbol": "ZNF292",
        "hgnc": "HGNC:18410",
        "name": "zinc finger protein 292",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf292"
      },
      {
        "slug": "znf526",
        "symbol": "ZNF526",
        "hgnc": "HGNC:29415",
        "name": "zinc finger protein 526",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf526"
      },
      {
        "slug": "clcn4",
        "symbol": "CLCN4",
        "hgnc": "HGNC:2022",
        "name": "Cl-/H+ antiporter 4",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clcn4"
      },
      {
        "slug": "ctcf",
        "symbol": "CTCF",
        "hgnc": "HGNC:13723",
        "name": "CCCTC-binding factor",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctcf"
      },
      {
        "slug": "gja5",
        "symbol": "GJA5",
        "hgnc": "HGNC:4279",
        "name": "gap junction protein alpha 5",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gja5"
      },
      {
        "slug": "gja8",
        "symbol": "GJA8",
        "hgnc": "HGNC:4281",
        "name": "gap junction protein alpha 8",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gja8"
      },
      {
        "slug": "ppp2r5c",
        "symbol": "PPP2R5C",
        "hgnc": "HGNC:9311",
        "name": "protein phosphatase 2 regulatory subunit B'gamma",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp2r5c"
      },
      {
        "slug": "sptbn1",
        "symbol": "SPTBN1",
        "hgnc": "HGNC:11275",
        "name": "spectrin beta, non-erythrocytic 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptbn1"
      },
      {
        "slug": "abl1",
        "symbol": "ABL1",
        "hgnc": "HGNC:76",
        "name": "ABL proto-oncogene 1, non-receptor tyrosine kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abl1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "hgnc": "HGNC:573",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap4e1"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "hras",
        "symbol": "HRAS",
        "hgnc": "HGNC:5173",
        "name": "HRas proto-oncogene, GTPase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hras"
      },
      {
        "slug": "map3k7",
        "symbol": "MAP3K7",
        "hgnc": "HGNC:6859",
        "name": "mitogen-activated protein kinase kinase kinase 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map3k7"
      },
      {
        "slug": "notch2",
        "symbol": "NOTCH2",
        "hgnc": "HGNC:7882",
        "name": "notch receptor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2"
      },
      {
        "slug": "pigb",
        "symbol": "PIGB",
        "hgnc": "HGNC:8959",
        "name": "phosphatidylinositol glycan anchor biosynthesis class B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigb"
      },
      {
        "slug": "poc1a",
        "symbol": "POC1A",
        "hgnc": "HGNC:24488",
        "name": "POC1 centriolar protein A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/poc1a"
      },
      {
        "slug": "rala",
        "symbol": "RALA",
        "hgnc": "HGNC:9839",
        "name": "RAS like proto-oncogene A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rala"
      }
    ]
  }
}