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Gene

Gene

A2M A2ML1 A4GALT AAAS AAGAB AANAT AARS AARS2 AASS ABAT ABCA1 ABCA12 ABCA13 ABCA3 ABCA4 ABCA5 ABCA7 ABCB1 ABCB11 ABCB4 ABCB6 ABCB7 ABCC11 ABCC2 ABCC6 ABCC8 ABCC9 ABCD1 ABCD3 ABCD4 ABCG2 ABCG5 ABCG8 ABHD12 ABHD5 ABL1 ACACA ACAD8 ACAD9 ACADL ACADM ACADS ACADSB ACADVL ACAN ACAT1 ACAT2 ACBD6 ACD ACE ACER3 ACHE ACKR1 ACO2 ACOT1 ACOX1 ACOX2 ACP2 ACP5 ACPT ACSF3 ACSL4 ACSL6 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 ACTN1 ACTN2 ACTN3 ACTN4 ACVR1 ACVR1B ACVR2B ACVRL1 ACY1 ADA ADA2-Mangel (CECR1) ADAM10 ADAM17 ADAM22 ADAM33 ADAM9 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS18 ADAMTS2 ADAMTS3 ADAMTSL2 ADAMTSL4 ADAR ADAT3 ADCK3 ADCK4 ADCY1 ADCY10 ADCY3 ADCY5 ADCY6 ADD3 ADGRA3 ADGRE2 ADGRG1 ADGRG2 ADGRG6 ADGRV1 ADH1B ADIPOQ ADIPOR1 ADK ADNP ADORA2A ADRA2B ADRB1 ADRB2 ADSL ADSSL1 AEBP1 AFF1 AFF2 AFF3 AFF4 AFG3L2 AFP AGA AGBL1 AGBL5 AGGF1 AGK AGL AGPAT2 AGPS AGRN AGRP AGT AGTPBP1 AGTR1 AGTR2 AGXT AHCY AHDC1 AHI1 AHSG AICDA AIFM1 AIMP1 AIMP2 AIP AIPL1 AIRE AK1 AK2 AK7 AK9 AKAP10 AKAP9 AKR1B1 AKR1C2 AKR1C4 AKR1D1 AKT1 AKT2 AKT3 ALAD ALAS2 ALB ALDH18A1 ALDH1A3 ALDH2 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1 ALDH7A1 ALDOA ALDOB ALG1 ALG10 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ALK ALMS1 ALOX12 ALOX12B ALOX5AP ALOXE3 Alpers-Syndrom (POLG) Alpha-1 Antitrypsin Defizienz, SERPINA1, S (rs17580) and Z (rs28929474) ALPK3 ALPL ALS2 ALX1 ALX3 ALX4 AMACR AMBN AMELX AMER1 AMH AMHR2 AMMECR1 AMN AMPD1 AMPD2 AMPD3 AMT Andersen-Tawil-Syndrom (KCNJ2) Andrenogenitales Syndrom, 21-Hydroxylase-Defizienz (CYP21A2) ANG ANGPTL3 ANGPTL4 ANGPTL6 ANK1 ANK2 ANK3 ANKH ANKLE2 ANKRD1 ANKRD11 ANKRD26 ANKRD55 ANKS6 Anlageträgerschaft für Cystische Fibrose (CFTR) Anlageträgerschaft für Spinale Muskelatrophie (SMA 5q), MLPA ANLN ANO10 ANO3 ANO5 ANO6 ANOS1 ANTXR1 ANTXR2 ANXA11 ANXA5 AP1S1 AP1S2 AP1S3 AP2S1 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APC2 APCDD1 APOA1 APOA2 APOA4 APOA5 APOB APOC2 APOC3 APOC4-APOC2 APOE APOL1 Apolipoprotein E (APOE), Genotyp APOPT1 APP APPL1 APRT APTX AQP1 AQP2 AQP3 AQP5 AQP7 AR ARAF ARCN1 ARFGEF2 ARG1 ARHGAP24 ARHGAP26 ARHGAP29 ARHGAP31 ARHGDIA ARHGEF10 ARHGEF15 ARHGEF18 ARHGEF2 ARHGEF6 ARHGEF7 ARHGEF9 ARID1A ARID1B ARID2 ARID5B ARL11 ARL13B ARL14EP ARL2BP ARL3 ARL6 ARL6IP1 ARMC4 ARMC5 ARMC9 ARMS2 ARNT2 ARPC1B ARR3 ARSA ARSB ARSE ARSI ARV1 ARVCF ARX ARX-assoziierte Krankheitsbilder ASAH1 ASB10 ASCC1 ASCC3 ASCL1 ASH1L ASIP ASL ASNS ASPA ASPH ASPM ASPN ASPSCR1 ASS1 ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A Ataxie mit okulomotorischer Apraxie Typ 1 Ataxie mit okulomotorischer Apraxie Typ 2 ATCAY ATF1 ATF6 ATG16L1 ATG5 ATIC ATL1 ATL3 ATM ATN1 ATOH7 ATP10A ATP11A ATP13A2 ATP13A3 ATP1A1 ATP1A2 ATP1A3 ATP2A1 ATP2A2 ATP2B2 ATP2B3 ATP2B4 ATP2C1 ATP4A ATP5A1 ATP5D ATP5E ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V0A4 ATP6V1A ATP6V1B1 ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8A2 ATP8B1 ATPAF1 ATPAF2 ATR ATRIP ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH AURKC AUTS2 AVP AVPR2 AXIN1 AXIN2 AXL Azoospermie, AZF-Deletionen
C10orf11 C10orf2 C11orf70 C11orf95 C12orf57 C12orf65 C15orf41 C19orf12 C19orf70 C1GALT1C1 C1QA C1QB C1QBP C1QC C1QTNF5 C1R C1S C2 C21orf2 C21orf59 C2CD3 C2orf71 C3 C4A C4B C4B_2 C4orf26 C5 C5orf42 C6 C6orf25 C7 C8A C8B C8G C8orf37 C9 C9orf72 CA1 CA12 CA2 CA4 CA5A CA8 CABP2 CABP4 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1F CACNA1G CACNA1H CACNA1S CACNA2D1 CACNA2D2 CACNA2D4 CACNB2 CACNB4 CACNG2 CAD CADASIL (NOTCH3) CALM1 CALM2 CALM3 CALR CALR3 CAMK2A CAMK2B CAMKMT CAMTA1 CANT1 CAPN1 CAPN10 CAPN3 CAPN5 CARD11 CARD14 CARD8 CARD9 CARMIL2 CARS CARS2 CASK CASP10 CASP14 CASP2 CASP8 CASQ1 CASQ2 CASR CAST CAT CATSPER1 CATSPER2 CAV1 CAV3 CBFA2T3 CBFB CBL CBLN2 CBS CBX2 CC2D1A CC2D2A CCBE1 CCDC103 CCDC114 CCDC115 CCDC141 CCDC151 CCDC174 CCDC22 CCDC28B CCDC39 CCDC40 CCDC50 CCDC6 CCDC65 CCDC78 CCDC8 CCDC88A CCDC88C CCL2 CCM2 CCNA2 CCND1 CCND2 CCNF CCNO CCR1 CCR2 CCR5 CCR6 CCT5 CCT7 CD109 CD151 CD164 CD19 CD207 CD209 CD247 CD27 CD28 CD2AP CD320 CD36 CD3D CD3E CD3G CD4 CD40 CD40LG CD44 CD46 CD55 CD59 CD70 CD79A CD79B CD81 CD8A CD96 CDAN1 CDC14A CDC42 CDC45 CDC5L CDC6 CDC73 CDCA7 CDH1 CDH11 CDH15 CDH23 CDH3 CDH9 CDHR1 CDK10 CDK13 CDK20 CDK4 CDK5 CDK5RAP2 CDK6 CDKAL1 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDKN2D CDKN3 CDON CDSN CDT1 CDY1 CDY2A CEACAM16 CEBPA CEBPE CECR1 CEL CELSR1 CELSR2 CELSR3 CENPE CENPF CENPJ CEP104 CEP120 CEP126 CEP135 CEP152 CEP164 CEP19 CEP290 CEP41 CEP55 CEP57 CEP63 CEP78 CEP83 CEP89 CERKL CERS1 CERS3 CES1 CETP CFAP43 CFAP44 CFAP52 CFAP53 CFAP57 CFAP69 CFB CFC1 CFD CFH CFHR1 CFHR3 CFHR5 CFI CFL2 CFP CFTR CGNL1 CHAMP1 CHAT CHCHD10 CHCHD2 CHD1 CHD1L CHD2 CHD4 CHD7 CHD8 CHEK2 CHI3L1 CHIT1 CHKB CHL1 CHM CHMP1A CHMP2B CHMP4B CHN1 Chorea Huntington (HTT-Repeat) CHRDL1 CHRM2 CHRM3 CHRNA1 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA7 CHRNB1 CHRNB2 CHRND CHRNE CHRNG CHST14 CHST3 CHST6 CHST8 CHSY1 CHUK CIB2 CIC CIDEC CIITA CILP CISD2 CISH CIT CITED2 CIZ1 CKAP2L CLCA4 CLCF1 CLCN1 CLCN2 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB CLDN1 CLDN10 CLDN14 CLDN16 CLDN19 CLEC16A CLEC7A CLIC2 CLIC5 CLIP1 CLIP2 CLMP CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CLPP CLPX CLRN1 CLTC CLTCL1 CLUAP1 CNBP CNGA1 CNGA2 CNGA3 CNGB1 CNGB3 CNKSR1 CNKSR2 CNNM2 CNNM4 CNOT3 CNPY3 CNTN1 CNTN2 CNTN4 CNTNAP1 CNTNAP2 COA3 COA5 COA6 COA7 COASY COCH Coffin-Lowry-Syndrom (RPS6KA3) COG1 COG2 COG4 COG5 COG6 COG7 COG8 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL17A1 COL18A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A3BP COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COLQ COMP COMT Congenital Cataracts, Facial Dysmorphism, and Neuropathy (CCFDN), CTDP1 c.863+389C>T COPA COPB2 COQ2 COQ4 COQ6 COQ7 COQ9 CORIN CORO1A COX10 COX14 COX15 COX20 COX4I2 COX6A1 COX6B1 COX7B COX8A CP CPA1 CPA6 CPAMD8 CPEO , mitochondrial - mtDNA Deletion/en CPLX1 CPN1 CPOX CPS1 CPT1A CPT1C CPT2 CPT2-Mangel CR1 CR2 CRADD CRAT CRB1 CRB2 CRBN CREB1 CREB3L1 CREB3L2 CREB3L3 CREBBP CRELD1 CRH Cri-du-chat-Syndrom (Mikrodeletion 5p15.2) CRIPT CRKL CRLF1 CRLF2 CRTAP CRTC1 CRX CRYAA CRYAB CRYBA1 CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGA CRYGB CRYGC CRYGD CRYGS CRYM CSF1R CSF2RA CSF2RB CSF3R CSNK1D CSNK2A1 CSNK2B CSPP1 CSRP3 CST3 CSTA CSTB CTBP1 CTC1 CTCF CTDP1 CTGF CTH CTHRC1 CTLA4 CTNNA1 CTNNA3 CTNNB1 CTNND1 CTNND2 CTNS CTPS1 CTRC CTSA CTSB CTSC CTSD CTSF CTSH CTSK CUBN CUL3 CUL4B CUL7 CWC27 CWF19L1 CX3CR1 CXCR2 CXCR4 CXorf56 CYB5A CYB5R3 CYBA CYBB CYC1 CYCS CYFIP2 CYLD CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP26B1 CYP26C1 CYP27A1 CYP27B1 CYP2A6 CYP2B6 CYP2C18 CYP2C19 CYP2C8 CYP2C9 CYP2D6 CYP2R1 CYP2U1 CYP3A4 CYP3A5 CYP4F2 CYP4F22 CYP4V2 CYP7A1 CYP7B1 CYSLTR2 Cystische Fibrose: CFTR, häufigste Mutationen
M. Fabry (GLA) M. Osler (ENG, ACVRL1) MAB21L2 MAD-Mangel, AMPD1, c.133C>T (p.Gln45*) MAD1L1 MAD2L2 MAF MAFA MAFB MAG MAGED2 MAGEL2 MAGI2 MAGT1 MAK MALT1 MAML2 MAMLD1 MAN1B1 MAN2B1 MANBA MANF MAOA MAOB MAP2K1 MAP2K2 MAP3K1 MAP3K14 MAP3K20 MAP3K6 MAP3K7 MAP3K8 MAPK1 MAPK10 MAPK3 MAPK7 MAPK8IP1 MAPKAPK3 MAPKBP1 MAPRE2 MAPT MARS MARS2 MARVELD2 MASP1 MASP2 MASTL MAT1A MAT2A MATN3 MATR3 MAX MBD5 MBL2 MBNL1 MBOAT7 MBTPS2 MC1R MC2R MC3R MC4R McArdle (PYGM) MCC MCCC1 MCCC2 MCEE MCFD2 MCIDAS MCM2 MCM3AP MCM4 MCM5 MCM6 MCM8 MCM9 MCOLN1 MCPH1 MCTP2 MDH2 MDM2 MECOM MECP2 MECR MED12 MED13L MED17 MED23 MED25 MEF2A MEF2C MEFV MEGF10 MEGF8 MEIOB MEIS1 MEIS2 MELAS, MT-TL1 MEN1 Menkes-Syndrom (ATP7A) MEOX1 MERRF, MT-TK MERTK MESP2 MET METTL23 MFAP5 MFF MFN2 MFRP MFSD2A MFSD8 MGAT2 MGME1 MGMT MGP MIB1 MICA MICAL1 MICALL2 MICB MICU1 MID1 MID2 MIF Miller-Dieker-Syndrom (17p13.3) MINPP1 MIP MIPEP MIPOL1 MITF MKKS MKL1 MKRN3 MKS1 MLC1 MLH1 MLH1-Promotormethylierung MLH3 MLLT10 MLLT11 MLLT3 MLPH MLX MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MME MMEL1 MMP1 MMP13 MMP14 MMP19 MMP2 MMP20 MMP21 MMP3 MMP9 MN1 MNX1 MOCOS MOCS1 MOCS2 MOG MOGS Morbus Meulengracht, UGTA1 (TA)(7) Polymorphismus Morbus Pompe (GAA) MORC2 Mowat-Wilson-Syndrom (ZEB2) MPC1 MPDU1 MPDZ MPI MPL MPLKIP MPO MPP3 MPP4 MPST MPV17 MPZ MR1 MRAP MRAP2 MRAS MRE11A MRPL3 MRPL44 MRPS16 MRPS2 MRPS22 MRPS34 MRPS7 MS4A1 MSC MSH2 MSH3 MSH5 MSH6 MSMB MSMO1 MSN MSR1 MSRB3 MST1 MSTN MSTO1 MSX1 MSX2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-RNR1 MT-RNR2 MT-TA MT-TC MT-TD MT-TE MT-TF MT-TG MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TM MT-TN MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MT-TY MTAP MTFMT MTHFD1 MTHFR MTHFR c.665C>T und c.1286A>C MTM1 MTMR1 MTMR14 MTMR2 MTO1 MTOR MTPAP MTR MTRR MTTP MTUS1 MUC1 MUC5B MUC7 Multiple Endokrine Neoplasie Typ 1 (MEN1) Multiple Endokrine Neoplasie Typ 2 (MEN2), RET, Exons 5, 8, 10, 11, 13-16 MUSK Muskeldystriphie Duchene / Becker (DMD-Dosisanalyse) MUT MUTYH MVD MVK MXI1 MYB MYBPC1 MYBPC3 MYC MYCN MYD88 MYF5 MYF6 MYH10 MYH11 MYH14 MYH2 MYH3 MYH6 MYH7 MYH7B MYH8 MYH9 MYL2 MYL3 MYL4 MYLK MYLK2 MYO15A MYO18B MYO1A MYO1C MYO1E MYO1H MYO3A MYO5A MYO5B MYO6 MYO7A MYO9A MYO9B MYOC MYOD1 MYOT Myotone Dystrophie Typ 1 (DM1), DMPK-Repeat Myotone Dystrophie Typ 2 (DM2), CNBP-Repeat Myotonie, Chloridkanal assoziierte (CLCN1) Myotonie, Paramyotonie, Natriumkanal-assoziiert (SCN4A) MYOZ2 MYPN MYT1L
NAA10 NAA15 NAB2 NABP1 NACC1 NADK2 NAGA NAGLU NAGS NAIP NALCN NANOS1 NANOS3 NANS Narkolepsie, Assoziation HLA-DQB1*0602 NARS2 NAT2 NAT8L NAXE NBAS NBEAL2 NBN NCAPD2 NCAPD3 NCAPH NCF1 NCF2 NCF4 NCOA4 NCR3 NCSTN NDE1 NDN NDP NDRG1 NDST1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NEBL NECAP1 NECTIN1 NECTIN3 NECTIN4 NEDD4L NEFH NEFL NEK1 NEK2 NEK8 NEK9 Nekrotisierende Enzephalopathie / ANE (RANBP2) [p.Thr585Met, p.Thr653Ile, p.Ile656Val, p.Trp681Cys 9] NELFA Nemaline Myopathie (ACTA1) Nemaline Myopathie (NEB) NEU1 NEUROD1 NEUROG3 Neuropathie mit Neuromyotonie (HINT1) Neuropathie PMP22-Dosistestung Neuropathie PMP22-Sequenzierung NEXN NF1 NF2 NFATC2IP NFE2L2 NFIA NFIX NFKB1 NFKB2 NFKBIA NFKBIL1 NFS1 NFU1 NGF NGLY1 NHEJ1 NHLRC1 NHP2 NHS NIN NIPA1 NIPAL4 NIPBL NKAIN2 NKX2-1 NKX2-5 NKX2-6 NKX3-2 NKX6-2 NLGN3 NLGN4X NLRC4 NLRP1 NLRP12 NLRP3 NLRP7 NME1 NME8 NMNAT1 NNT NOBOX NOD2 NODAL NOG NOL3 NONO NOP10 NOP56 NOS1 NOS1AP NOS2 NOS3 NOTCH1 NOTCH2 NOTCH3 NPAP1 NPAS2 NPC1 NPC1L1 NPC2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NPM1 NPPA NPR2 NPRL2 NPRL3 NPSR1 NR0B1 NR0B2 NR1H3 NR1H4 NR1I3 NR2E3 NR2F1 NR2F2 NR3C1 NR3C2 NR4A2 NR4A3 NR5A1 NRAS NRIP1 NRL NRTN NRXN1 NRXN2 NRXN3 NSD1 NSDHL NSMCE2 NSMCE3 NSMF NSUN2 NT5C2 NT5C3A NT5E NTF4 NTHL1 NTN1 NTNG1 NTRK1 NTRK2 NTRK3 NUBPL NUDT15 NUMA1 NUP107 NUP155 NUP205 NUP214 NUP62 NUP93 NUS1 NUTM1 NUTM2A NXF5 NXN NYX
P2RX1 P2RX2 P2RY11 P2RY12 P3H1 P3H2 P4HA2 P4HB PABPN1 PACRG PACS1 PADI3 PADI4 PADI6 PAFAH1B1 PAH PAK3 PALB2 PALLD PAM16 PANK2 Pankreatitis (PRSS1) PAPSS2 PARD3 PARK2 PARK7 PARN PARP1 PARS2 PATL2 PAX1 PAX2 PAX3 PAX4 PAX5 PAX6 PAX7 PAX8 PAX9 PBRM1 PBX1 PC PCBD1 PCCA PCCB PCDH12 PCDH15 PCDH19 PCK1 PCK2 PCLO PCM1 PCNA PCNT PCSK1 PCSK9 PCYT1A PDCD1 PDCD10 PDE10A PDE11A PDE2A PDE3A PDE4D PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDE8B PDGFB PDGFRA PDGFRB PDGFRL PDHA1 PDHA2 PDHB PDHX PDK3 PDP1 PDSS1 PDSS2 PDX1 PDYN PDZD7 Pearson/CPEO/KSS, mtDNA-Deletion/en PECR PEPD PER2 PER3 Periodische Paralyse (CACNA1S) PET100 Peutz-Jeghers-Syndrom (STK11) PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PFN1 PGAM2 PGAP1 PGAP2 PGAP3 PGK1 PGM1 PGM3 PGR PGRMC1 PHC1 PHEX PHF11 PHF21A PHF6 PHF8 PHGDH PHIP PHKA1 PHKA2 PHKB PHKG1 PHKG2 PHOX2A PHOX2B PHYH PHYKPL PI4KA PIBF1 PICALM PICK1 PIEZO1 PIEZO2 PIGA PIGC PIGG PIGH PIGL PIGM PIGN PIGO PIGQ PIGT PIGV PIGW PIGY PIH1D3 PIK3CA PIK3CD PIK3R1 PIK3R2 PIK3R5 PIKFYVE PINK1 PIP4K2A PIP5K1C PITPNM3 PITRM1 Pitt-Hopkins-Syndrom (TCF4) PITX1 PITX2 PITX3 PKD1 PKD1L1 PKD2 PKHD1 PKLR PKP1 PKP2 PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLA2G7 PLAA PLAG1 PLAGL1 PLAT PLAU PLCB1 PLCB4 PLCD1 PLCE1 PLCG2 PLCZ1 PLD1 PLD3 PLEC PLEKHG2 PLEKHG4 PLEKHG5 PLEKHM1 PLG PLIN1 PLK4 PLN PLOD1 PLOD2 PLOD3 PLP1 PLPP6 PLS3 PLXND1 PML PMM2 PMP2 PMP22 PMPCA PMPCB PMS1 PMS2 PMVK PNKD PNKP PNLIP PNP PNPLA1 PNPLA2 PNPLA3 PNPLA6 PNPLA8 PNPO PNPT1 POC1A POC1B PODXL POF1B POFUT1 POGLUT1 POGZ POLA1 POLD1 POLE POLG POLG2 POLH POLK POLR1A POLR1C POLR1D POLR3A POLR3B Polyzystische Niere (PKD1) Polyzystische Niere (PKD2) Polyzystische Niere / ADPKD (GANAB, DNAJB11) Polyzystische Niere / ADPKD (PKD1, PKD2) POMC POMGNT1 POMGNT2 POMK POMP POMT1 POMT2 PON1 PON2 PON3 POP1 POR PORCN POT1 POU1F1 POU2AF1 POU3F4 POU4F3 POU6F2 PPA2 PPARA PPARG PPARGC1A PPIB PPM1B PPM1D PPM1K PPOX PPP1CB PPP1R13L PPP1R15B PPP1R3A PPP2R1A PPP2R1B PPP2R2B PPP2R5D PPP3CA PPT1 PPT2 PQBP1 PRB3 PRCC PRCD PRDM12 PRDM16 PRDM5 PRDM6 PRDM8 PRDX1 PREPL PRF1 PRG4 PRICKLE1 PRICKLE2 PRIMA1 PRIMPOL PRKACA PRKACG PRKAG2 PRKAG3 PRKAR1A PRKAR1B PRKCA PRKCB PRKCD PRKCG PRKCH PRKCSH PRKD1 PRKDC PRKG1 PRKRA PRLR PRMT7 PRNP PROC PRODH PROK2 PROKR2 PROM1 PROP1 PROS1 PROSC PROZ PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH PRPH2 PRPS1 PRR12 PRR16 PRRT2 PRRX1 PRSS1 PRSS12 PRSS56 PRTN3 PRUNE1 PRX PRY PRY2 PSAP PSAT1 PSEN1 PSEN2 PSENEN PSMA3 PSMB4 PSMB8 PSMB9 PSMC3IP PSMD12 PSPH PSTPIP1 PTCD1 PTCH1 PTCH2 PTCHD1 PTDSS1 PTEN PTEN-assoziierte Erkrankungen (PTEN) PTF1A PTGDR PTGIS PTGS1 PTGS2 PTH PTH1R PTHLH PTPN11 PTPN12 PTPN14 PTPN2 PTPN22 PTPN3 PTPRC PTPRF PTPRJ PTPRO PTPRQ PTRF PTRH2 PTS PUDP PUF60 PUM1 PURA PUS1 PUS3 PXDN PYCR1 PYCR2 PYGL PYGM PYROXD1
S1PR2 SAA1 SACS SAG SALL1 SALL2 SALL4 SAMD11 SAMD12 SAMD9 SAMD9L SAMHD1 SAR1B SARDH SARS SARS2 SART3 SASH1 SASS6 SAT1 SATB2 SBDS SBF1 SBF2 SC5D SCAPER SCARB1 SCARB2 SCARF2 SCG5 SCN10A SCN11A SCN1A SCN1B SCN2A SCN2B SCN3A SCN3B SCN4A SCN4B SCN5A SCN8A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCP2 SCRIB SCYL1 SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23A SEC23B SEC24C SEC24D SEC61A1 SEC63 SECISBP2 SELP SEMA3A SEMA3C SEMA3D SEMA3E SEMA4A SEMA5A SEMA7A SEPN1 SEPSECS SEPT12 SEPT14 SEPT9 SERAC1 SERPINA1 SERPINA3 SERPINA6 SERPINA7 SERPINB6 SERPINB7 SERPINB8 SERPINC1 SERPIND1 SERPINE1 SERPINF1 SERPINF2 SERPING1 SERPINH1 SERPINI1 SET SETBP1 SETD1A SETD2 SETD5 SETX SF3B1 SF3B4 SFPQ SFRP4 SFTPA1 SFTPA2 SFTPB SFTPC SFXN4 SGCA SGCB SGCD SGCE SGCG SGO1 SGO2 SGPL1 SGSH SH2B1 SH2B3 SH2D1A SH3BP2 SH3BP4 SH3PXD2B SH3TC2 SHANK2 SHANK3 SHC1 SHC2 SHFM1 SHH SHOC2 SHOX SHPK SHROOM4 SI SIAE Sichelzellanämie (HBB, p.Glu7Val) SIGMAR1 SIK1 SIL1 SIM1 SIN3A SIPA1L3 SIX1 SIX2 SIX3 SIX5 SIX6 SKI SKIV2L SLC10A2 SLC11A1 SLC11A2 SLC12A1 SLC12A3 SLC12A5 SLC12A6 SLC13A5 SLC14A1 SLC16A1 SLC16A11 SLC16A12 SLC16A2 SLC17A3 SLC17A5 SLC17A8 SLC17A9 SLC18A2 SLC18A3 SLC19A1 SLC19A2 SLC19A3 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC22A12 SLC22A18 SLC22A4 SLC22A5 SLC24A1 SLC24A4 SLC24A5 SLC25A1 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A21 SLC25A22 SLC25A24 SLC25A26 SLC25A3 SLC25A32 SLC25A38 SLC25A4 SLC25A42 SLC25A46 SLC26A1 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC27A4 SLC27A5 SLC29A1 SLC29A3 SLC2A1 SLC2A10 SLC2A2 SLC2A3 SLC2A4 SLC2A9 SLC30A10 SLC30A2 SLC30A7 SLC30A8 SLC30A9 SLC31A1 SLC33A1 SLC34A1 SLC34A2 SLC34A3 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SLC36A2 SLC37A4 SLC38A8 SLC39A13 SLC39A14 SLC39A4 SLC39A5 SLC39A8 SLC3A1 SLC40A1 SLC44A4 SLC45A1 SLC45A2 SLC46A1 SLC4A1 SLC4A11 SLC4A4 SLC52A1 SLC52A2 SLC52A3 SLC5A1 SLC5A2 SLC5A5 SLC5A7 SLC6A1 SLC6A17 SLC6A18 SLC6A19 SLC6A2 SLC6A20 SLC6A3 SLC6A4 SLC6A5 SLC6A8 SLC6A9 SLC7A14 SLC7A7 SLC7A9 SLC9A1 SLC9A3 SLC9A3R1 SLC9A6 SLC9A9 SLCO1B1 SLCO1B3 SLCO2A1 SLCO5A1 SLFN14 SLITRK1 SLITRK6 SLMAP SLURP1 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMAD7 SMAD9 SMARCA2 SMARCA4 SMARCA5 SMARCAD1 SMARCAL1 SMARCB1 SMARCC1 SMARCD2 SMARCE1 SMARD1 (IGHMBP2) SMC1A SMC3 SMCHD1 SMG9 SMIM1 Smith-Magenis-Syndrom (RAI1) SMN1 SMN2 SMO SMOC1 SMOC2 SMPD1 SMPX SMS SNAI2 SNAP25 SNAP29 SNCA SNCAIP SNCB SNIP1 SNRNP200 SNRPB SNRPE SNRPN SNTA1 SNX10 SNX14 SNX27 SNX3 SOBP SOD1 SOD2 SOD3 SOHLH1 SON SORL1 SORT1 SOS1 SOS2 SOST SOX10 SOX11 SOX17 SOX18 SOX2 SOX3 SOX5 SOX9 SP110 SP7 SPAG1 SPARC SPAST SPATA16 SPATA5 SPATA7 SPECC1L SPEG SPG11 SPG20 SPG21 SPG7 SPIB SPIDR Spinale Muskelatrophie (SMA 5q), MLPA SPINK1 SPINK5 Spinobulbäre Muskelatrophie (SBMA, Kennedy), AR-Repeat Spinocerebelläre Ataxie 1 (SCA1), ATXN1-Repeat Spinocerebelläre Ataxie 1, 2, 3, 6, 7, 17 (SCA1, SCA2, SCA3, SCA6, SCA7, SCA17) Spinocerebelläre Ataxie 17 (SCA17), TBP-Repeat Spinocerebellar Ataxia 17 (SCA17), TBP-Repeat Spinocerebelläre Ataxie 2 (SCA2), ATXN2-Repeat Spinocerebelläre Ataxie 3 (SCA3), ATXN3-Repeat Spinocerebelläre Ataxie 7 (SCA7), ATXN7-Repeat Spinocerebelläre Ataxie 8 (SCA8), ATXN8OS-Repeat SPINT2 SPP1 SPP2 SPR SPRED1 SPRED2 SPRTN SPRY1 SPRY4 SPTA1 SPTAN1 SPTB SPTBN2 SPTBN4 SPTLC1 SPTLC2 SPTLC3 SQSTM1 SRA1 SRC SRCAP SRD5A2 SRD5A3 SRGAP1 SRGAP3 SRI SRP54 SRP72 SRPK3 SRPX2 SRY SS18 SSR4 SSTR5 SSX1 SSX2 ST14 ST3GAL3 ST3GAL5 STAC3 STAG1 STAG2 STAG3 STAMBP STAR STAT1 STAT2 STAT3 STAT4 STAT5B STAT6 STEAP3 STIL STIM1 STK10 STK11 STK36 STK4 STOM STOX1 STRA6 STRADA STRC STS STT3A STT3B STUB1 Stüve-Wiedeman-Syndrom (LIFR) STX11 STX16 STX1A STX1B STX3 STXBP1 STXBP2 SUCLA2 SUCLG1 SUFU SUGCT SULF1 SULT2B1 SUMF1 SUMO1 SUMO4 SUN5 SUOX SURF1 SUZ12 SYCE1 SYCP3 SYN1 SYN3 SYNE1 SYNE2 SYNE4 SYNGAP1 SYNJ1 SYP SYT1 SYT14 SYT2 SYTL2 SZT2
T TAB2 TAC3 TACC1 TACC3 TACO1 TACR3 TACSTD2 TAF1 TAF13 TAF15 TAF1A TAF2 TAF4B TAF6 TAL1 TAL2 TALDO1 TANGO2 TAP1 TAP2 TAPBP TAPT1 TARDBP TARS2 TAS2R16 TAS2R38 TAT TAZ TBC1D20 TBC1D23 TBC1D24 TBC1D4 TBC1D7 TBCD TBCE TBCK TBK1 TBL1XR1 TBL2 TBP TBR1 TBX1 TBX15 TBX18 TBX19 TBX2 TBX20 TBX21 TBX22 TBX3 TBX4 TBX5 TBX6 TBXA2R TBXAS1 TCAP TCF12 TCF20 TCF3 TCF4 TCF7L2 TCHH TCIRG1 TCL1A TCN2 TCOF1 TCTEX1D2 TCTN1 TCTN2 TCTN3 TDGF1 TDO2 TDP1 TDP2 TDRD7 TDRD9 TEAD1 TECPR2 TECR TECRL TECTA TEK TELO2 TENM3 TENM4 TERC TERF2IP TERT TET2 TEX11 TEX14 TEX15 TF TFAM TFAP2A TFAP2B TFB1M TFE3 TFEB TFG TFR2 TFRC TG TGDS TGFA TGFB1 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 TGFBR3 TGIF1 TGM1 TGM3 TGM5 TGM6 TH Thalassämie-beta, HBB Thalassemia, alpha, HBA1, HBA2 THAP1 THBD THBS2 THOC2 THOC6 THPO THRA THRB Thrombophilie, Faktor-II (Prothrombin, F2) c.20210G>A Thrombophilie, Faktor-V-Leiden (F5) c.1601G>A TIA1 TICAM1 TIMM50 TIMM8A TIMMDC1 TIMP3 TINF2 TIRAP TJP2 TK2 TKT TLE6 TLK2 TLL1 TLR1 TLR2 TLR3 TLR4 TLR5 TLX1 TLX3 TM4SF20 TMC1 TMC6 TMC8 TMCO1 TMEM106B TMEM107 TMEM114 TMEM126A TMEM126B TMEM127 TMEM135 TMEM138 TMEM165 TMEM173 TMEM185A TMEM199 TMEM216 TMEM231 TMEM237 TMEM240 TMEM260 TMEM38B TMEM43 TMEM5 TMEM67 TMEM70 TMEM8C TMEM98 TMIE TMLHE TMPO TMPRSS15 TMPRSS3 TMPRSS4 TMPRSS6 TMTC3 TNC TNF TNFAIP3 TNFRSF10B TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF4 TNFSF11 TNFSF12 TNFSF15 TNFSF4 TNIK TNK2 TNNC1 TNNI2 TNNI3 TNNI3K TNNT1 TNNT2 TNNT3 TNPO3 TNXB TOE1 TOMM40 TOP1 TOP2A TOP3A TOPORS TOR1A TOR1AIP1 TP53 TP53RK TP63 TP73 TPCN2 TPH2 TPI1 TPK1 TPM1 TPM2 TPM3 TPM4 TPMT TPO TPP1 TPP2 TPR TPRKB TPRN TRAF3 TRAF3IP1 TRAF3IP2 TRAF6 TRAIP Transthyretin-Amyloid-Neuropathie (TTR) Transthyretin-Amyloidose (TTR) TRAP1 TRAPPC11 TRAPPC12 TRAPPC2 TRAPPC2B TRAPPC6B TRAPPC9 TRDN TREH TREM2 TREX1 TREX1-assoziierte Erkrankugen TRH TRHR TRIM2 TRIM24 TRIM27 TRIM32 TRIM33 TRIM36 TRIM37 TRIM44 TRIO TRIOBP TRIP11 TRIP12 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10A TRMT10C TRMT5 TRMU TRNT1 TRPA1 TRPC3 TRPC6 TRPM1 TRPM4 TRPM6 TRPM7 TRPS1 TRPV3 TRPV4 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSG101 TSGA10 TSHB TSHR TSHZ1 TSPAN12 TSPAN7 TSPEAR TSPY1 TSPYL1 TSR2 TST TTBK2 TTC19 TTC21B TTC25 TTC37 TTC7A TTC8 TTI2 TTLL5 TTN TTPA TTR TUB TUBA1A TUBA3D TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBG1 TUBG2 TUBGCP4 TUBGCP6 TUFM TULP1 TUSC3 TWIST1 TWIST2 TXN2 TXNL4A TXNRD2 TYK2 TYMP TYMS TYR TYROBP TYRP1