Prehľadávať katalóg:
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Čapíkovo-tyčinková dystrofia (Cone-rod dystrofia)
Gen: AIPL1 -
Cholestázy
Gen: ABCB11, ABCB4, ABCC2, ADK, AKR1D1, ALDOB, AMACR, ATP7B, ATP8B1, BAAT, BCS1L, CC2D2A, CFTR, CLDN1, COG7, CYP27A1, CYP7B1, DCDC2, DGUOK, FAH, GALE, GALK1, GALM, GALT, GBA, GBE1, HADHA, HNF1B, HSD3B7, INVS, JAG1, KIF12, LIPA, LSR, MPI, MPV17, MVK, MYO5B, NBAS, NOTCH2, NPC1, NPC2, NR1H4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, PKHD1, POLG, RINT1, SCYL1, SERPINA1, SLC25A13, SLC51A, SLC51B, SMPD1, TALDO1, TJP2, TRMU, TTC26, UGT1A1, UNC45A, USP53, VIPAS39, VPS33B, YARS, ZFYVE19 -
CONDSIAS syndróm
Gen: ADPRHL2 -
CMMRD syndróm
Gen: MSH6 -
CMMRD syndróm
Gen: MSH6_MLPA -
CMMRD syndróm
Gen: PMS2 -
CMMRD syndróm
Gen: PMS2_MLPA -
CMMRD syndróm
Gen: MLH1 -
CMMRD syndróm
Gen: MLH1_MLPA -
CMMRD syndróm
Gen: MSH2