Wachstumshormonmangel (IGHD, CPHD)
BTK,
GH1,
GHRHR,
GHSR,
GLI2,
HESX1,
LHX3,
LHX4,
OTX2,
POU1F1,
PROP1,
RNPC3,
ROBO1,
SOX3
Noonan-Syndrom (NS)
BRAF,
CBL,
KRAS,
LZTR1,
MAPK1,
MRAS,
NRAS,
PPP1CB,
PTPN11,
RAF1,
RIT1,
RRAS2,
SHOC2,
SOS1,
SOS2,
SPRED2
Meier-Gorlin-Syndrom (MGORS)
CDC45,
CDC6,
CDT1,
GMNN,
MCM5,
ORC1,
ORC4,
ORC6
Seckel-Syndrom (SCKL)
ATR,
CEP152,
CEP63,
CPAP,
DNA2,
NIN,
NSMCE2,
RBBP8,
TRAIP
Kongenitale Hypothyreose (CHNG)
IRS4,
NKX2-5,
PAX8,
TBL1X,
THRA,
TRHR,
TSHB,
TSHR
Skelettdysplasie (SED, SMD, AMD)
ACAN,
B3GALT6,
BGN,
BMPR1B,
CFAP410,
COL11A2,
COL2A1,
COMP,
DDR2,
DDRGK1,
EXOC6B,
FGFR3,
FN1,
GDF5,
GPX4,
KIF22,
NKX3-2,
NPR2,
PAM16,
PAPSS2,
PISD,
PLCB3,
POP1,
PRKG2,
RMP64,
RMRP,
RNU4ATAC,
RPL13,
RSPRY1,
SIK3,
SLC26A2,
TONSL,
TRAPPC2,
TRIP11,
TRPV4
Gesamte Genliste
ACAN, ACP5, ACTB, ACTG1, AGPS, ALPL, AMMECR1, ANKRD11, ARCN1, ARSB, ATR, B3GALT6, B3GAT3, B4GALT7, BCS1L, BGN, BLM, BMP2, BMPR1B, BRAF, BRCA1, BRCA2, BRIP1, BTK, CBL, CCDC8, CDC45, CDC6, CDKN1C, CDT1, CEP152, CEP63, CFAP410, COL10A1, COL11A2, COL27A1, COL2A1, COMP, CPAP, CREBBP, CRIPT, CSGALNACT1, CUL7, DDR2, DDRGK1, DHCR7, DNA2, DONSON, DPH1, EP300, ERCC4, ERCC6, ERCC8, EXOC6B, EXOSC2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FGD1, FGFR1, FGFR3, FLNB, FN1, GALNS, GDF5, GH1, GHR, GHRHR, GHSR, GLB1, GLI2, GMNN, GNPAT, GPX4, GRHL2, GSC, GUSB, GZF1, HDAC8, HESX1, HMGA2, HRAS, HYAL1, IDUA, IGF1, IGF1R, IGF2, IGFALS, INSR, IRS1, IRS4, KIF22, KMT2A, KRAS, LARP7, LFNG, LHX3, LHX4, LTBP3, LZTR1, MAD2L2, MAP2K1, MAP2K2, MAPK1, MCM5, MRAS, NBAS, NBN, NIN, NIPBL, NKX2-5, NKX3-2, NOTCH2, NPR2, NRAS, NSMCE2, OBSL1, ORC1, ORC4, ORC6, OTX2, PALB2, PAM16, PAPPA2, PAX8, PCNT, PEX5, PEX7, PHEX, PIK3R1, PISD, PLAG1, PLCB3, POC1A, POLR3GL, POP1, POU1F1, PPP1CB, PPP1R15B, PPP3CA, PRKG2, PRMT7, PROP1, PTH1R, PTPN11, PUS7, RAD21, RAD51, RAD51C, RAF1, RBBP8, RFWD3, RIT1, RMP64, RMRP, RNPC3, RNU4ATAC, ROBO1, RPL13, RRAS2, RSPRY1, RTTN, SCUBE3, SGMS2, SHOC2, SHOX, SLC10A7, SLC26A2, SLX4, SMARCA2, SMC1A, SMC3, SOS1, SOS2, SOX2, SOX3, SPRED2, SRCAP, STAT5B, TALDO1, TBCE, TBL1X, TBX15, TBX19, TBX2, THRA, TKT, TONSL, TOP3A, TRAIP, TRAPPC2, TRHR, TRIM37, TRIP11, TRMT10A, TRPV4, TSHB, TSHR, UBE2T, XRCC2, XRCC4
