ErkrankungGen(e)
Aicardi-Goutières SyndromADAR IFIH1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1
Alzheimer ErkrankungAPOE APP PSEN1 PSEN2
AmyloidpolyneuropathieAPOA1 FGA LYZ MEFV TTR
Amyotrophe LateralskleroseALS2 ANG ATXN2 C9orf72 CHMP2B DCTN1 ERBB4 FIG4 FUS HNRNPA1 MATR3 NEFH OPTN PFN1 PRPH SETX SIGMAR1 SOD1 TARDBP UBQLN2 VAPB VCP
ArthrogryposisDOK7 ECEL1 FBN2 GLE1 MYBPC1 MYH3 MYH8 PIEZO2 PIEZO2 RAPSN TNNI2 TNNT3 TPM2 VIPAS39 VPS33B
Ataxie-okulomotorische ApraxieAPTX PIK3R5 SETX ZC4H2
Ataxie mit selektiven Vitamin E-MangelTTPA
Brown-Vialetto-Van Laere SyndromSLC52A2 SLC52A3
CADASIL /CARASILNOTCH3 HTRA1 TREX1
Chorea (Huntington) (like)ATN1 HTT JPH3 NKX2-1 PRNP TBP VPS13A
CRASH SyndromL1CAM
Dejerine-Sottas SyndromEGR2 MPZ PMP22 PRX
Dentatorubro-pallidoluysiane Atrophie DRPLAATN1
DysautonomiaATL1 ATL3 DNMT1 DST FAM134B IKBKAP KIF1A NGFB NTRK1 SCN11A SPTLC1 SPTLC2 WNK1
DystonieANO3 ATP1A3 CIZ1 DRD2 DYT1 GCH1 GNAL MR1 PRKRA PRRT2 SGCE SLC2A1 TAF1 THAP1 TUBB4A
Episodische AtaxieCACNA1A CACNB4 KCNA1 SLC1A3
ErythermalgiaSCN9A
Externe OpthalmoplegieC10orf2 DNA2 POLG POLG POLG2 RRM2B SLC25A4
Fazio-Londe SyndromSLC52A3
Fragiles X Tremor/Ataxie Syndrom FTAXFMR1
Friedreich-AtaxieFXN
Frontotemporale DemenzC9orf72 CHMP2B FUS GRN HNRNPA1 HNRPA2B1 MAPT PSEN1 TARDBP VCP
HydrozephalusCCDC88C L1CAM MPDZ
HyperekplexieARHGEF9 GLRA1 GLRB SLC6A5
Hypo/hyper-kaliämische periodische ParalyseCACNA1S SCN4A
Hypomyelinisierende LeukodystrophieAIMP1 FAM126A GJC2 HSPD1 PLP1 POLR3A POLR3B TUBB4A
Infantile neuroaxonale DystrophieC19orf12 COASY FTL PANK2 PLA2G6 WDR45
Leigh SyndromBCS1L COX10 COX15 FOXRED1 NDUFA10 NDUFA12 NDUFA2 NDUFA9 NDUFAF2 NDUFAF6 NDUFS3 NDUFS4 NDUFS7 NDUFS8 SDHA SURF1
Leukoenzephalopathie diffus mit SphäroidenATN1
Marinesco-Sjögren SyndromCTDP1 SIL1
MASA SyndromL1CAM
MELASmit
Metachromatischen LeukodystrophieARSA CLCN2 COL4A1 CSF1R DARS2 EARS2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 GALC HEPACAM HTRA1 MLC1 NOTCH3 POLR3A RNASET2 SCP2 TYMP
Migräne familiäreATP1A2 ATP1A2 CACNA1A KCNK18 NOTCH3 SCN1A
NARP Syndrommit
NeuroakantozytoseVPS13A XK
NeuroferritinopathieC19orf12 COASY FTL PANK2 PLA2G6 WDR45
Neuronale Ceroid-LipofuscinoseCLN3 CLN5 CLN6 CLN8 CTSD CTSF DNAJC5 GRN MFSD8 PPT1 TPP1
Neuropathie Charcot-Marie-ToothAARS AIFM1 DHTKD1 DNM2 DYNC1H1 EGR2 FGD4 FIG4 GARS GDAP1 GJB1 HSPB1 HSPB8 KARS KIF1B LITAF LMNA LRSAM1 MED25 MFN2 MPZ MTMR2 NDRG1 NEFL NEFL PDK3 PLEKHG5 PMP22 PRPS1 PRX RAB7 SBF1 SBF2 SH3TC2 TRIM2 TRPV4 YARS
Niemann-Pick-KrankheitNPC1 NPC2 SMPD1
Paramyotonia congenita von EulenburgCLCN1 SCN4
Parkinson-Dystonie SyndromATP1A3 GCH1 PLA2G6 PRKRA SLC6A3 SPR TAF1 TH
Parkinson-KrankheitATP13A2 ATP1A3 COQ2 DNAJC6 EIF4G1 FBXO7 GCH1 GIGYF2 HTRA2 PARK2 PARK7 PINK1 PLA2G6 SNCA SNCB SYNJ1 UCHL1 VPS35
Paroxysmalen kinesiogenen DyskinesienPRRT2
Pelizaeus-Merzbacher-KrankheitAIMP1 FAM126A GJC2 HSPD1 PLP1 POLR3A POLR3B TUBB4A
Pendred SyndromDUOX2 DUOXA2 IYD SLC26A4 SLC5A5 TG TPO
RiesenaxonneuropathieDCAF8 GAN
Schwerhörigkeitin Vorb.
Spastische AtaxieAFG3L2 MARS2 MTPAP SACS
Spastische ParaplegieALS2 AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARL6IP1 ATL1 B4GALNT1 BSCL2 C12orf65 C19orf12 CCT5 CYP2U1 CYP7B1 DDHD1 DDHD2 ENTPD1 ERLIN2 FA2H GBA2 GJC2 HSPD1 KIAA0196 KIF1A KIF5A L1CAM NIPA1 NT5C2 PLP1 PNPLA6 REEP1 RTN2 SLC16A2 SLC33A1 SPAST SPG11 SPG20 SPG21 SPG7 TECPR2 TFG VPS37A ZFYVE26 ZFYVE27
Spinozerebelläre AtaxieADCK3 AFG3L2 ANO10 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 BEAN CABC1 CACNA1 EEF2 FGF14 GRM1 ITPR1 KCNC3 KCND3 KIAA0226 NOP56 PDYN PPP2R2B PRKCG SCA20 SETX SPTBN SPTBN2 STUB1 SYNE1 SYT14 TBP TGM6 TPP1 TTBK2 WWOX ZNF592
Tomakulöse Neuropathie HNPPPMP22


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