| Erkrankung | Gen(e) |
|---|
| Aicardi-Goutières Syndrom | ADAR IFIH1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1 |
| Alzheimer Erkrankung | APOE APP PSEN1 PSEN2 |
| Amyloidpolyneuropathie | APOA1 FGA LYZ MEFV TTR |
| Amyotrophe Lateralsklerose | ALS2 ANG ATXN2 C9orf72 CHMP2B DCTN1 ERBB4 FIG4 FUS HNRNPA1 MATR3 NEFH OPTN PFN1 PRPH SETX SIGMAR1 SOD1 TARDBP UBQLN2 VAPB VCP |
| Arthrogryposis | DOK7 ECEL1 FBN2 GLE1 MYBPC1 MYH3 MYH8 PIEZO2 PIEZO2 RAPSN TNNI2 TNNT3 TPM2 VIPAS39 VPS33B |
| Ataxie-okulomotorische Apraxie | APTX PIK3R5 SETX ZC4H2 |
| Ataxie mit selektiven Vitamin E-Mangel | TTPA |
| Brown-Vialetto-Van Laere Syndrom | SLC52A2 SLC52A3 |
| CADASIL /CARASIL | NOTCH3 HTRA1 TREX1 |
| Chorea (Huntington) (like) | ATN1 HTT JPH3 NKX2-1 PRNP TBP VPS13A |
| CRASH Syndrom | L1CAM |
| Dejerine-Sottas Syndrom | EGR2 MPZ PMP22 PRX |
| Dentatorubro-pallidoluysiane Atrophie DRPLA | ATN1 |
| Dysautonomia | ATL1 ATL3 DNMT1 DST FAM134B IKBKAP KIF1A NGFB NTRK1 SCN11A SPTLC1 SPTLC2 WNK1 |
| Dystonie | ANO3 ATP1A3 CIZ1 DRD2 DYT1 GCH1 GNAL MR1 PRKRA PRRT2 SGCE SLC2A1 TAF1 THAP1 TUBB4A |
| Episodische Ataxie | CACNA1A CACNB4 KCNA1 SLC1A3 |
| Erythermalgia | SCN9A |
| Externe Opthalmoplegie | C10orf2 DNA2 POLG POLG POLG2 RRM2B SLC25A4 |
| Fazio-Londe Syndrom | SLC52A3 |
| Fragiles X Tremor/Ataxie Syndrom FTAX | FMR1 |
| Friedreich-Ataxie | FXN |
| Frontotemporale Demenz | C9orf72 CHMP2B FUS GRN HNRNPA1 HNRPA2B1 MAPT PSEN1 TARDBP VCP |
| Hydrozephalus | CCDC88C L1CAM MPDZ |
| Hyperekplexie | ARHGEF9 GLRA1 GLRB SLC6A5 |
| Hypo/hyper-kaliämische periodische Paralyse | CACNA1S SCN4A |
| Hypomyelinisierende Leukodystrophie | AIMP1 FAM126A GJC2 HSPD1 PLP1 POLR3A POLR3B TUBB4A |
| Infantile neuroaxonale Dystrophie | C19orf12 COASY FTL PANK2 PLA2G6 WDR45 |
| Leigh Syndrom | BCS1L COX10 COX15 FOXRED1 NDUFA10 NDUFA12 NDUFA2 NDUFA9 NDUFAF2 NDUFAF6 NDUFS3 NDUFS4 NDUFS7 NDUFS8 SDHA SURF1 |
| Leukoenzephalopathie diffus mit Sphäroiden | ATN1 |
| Marinesco-Sjögren Syndrom | CTDP1 SIL1 |
| MASA Syndrom | L1CAM |
| MELAS | mit |
| Metachromatischen Leukodystrophie | ARSA CLCN2 COL4A1 CSF1R DARS2 EARS2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 GALC HEPACAM HTRA1 MLC1 NOTCH3 POLR3A RNASET2 SCP2 TYMP |
| Migräne familiäre | ATP1A2 ATP1A2 CACNA1A KCNK18 NOTCH3 SCN1A |
| NARP Syndrommit |
| Neuroakantozytose | VPS13A XK |
| Neuroferritinopathie | C19orf12 COASY FTL PANK2 PLA2G6 WDR45 |
| Neuronale Ceroid-Lipofuscinose | CLN3 CLN5 CLN6 CLN8 CTSD CTSF DNAJC5 GRN MFSD8 PPT1 TPP1 |
| Neuropathie Charcot-Marie-Tooth | AARS 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-Krankheit | NPC1 NPC2 SMPD1 |
| Paramyotonia congenita von Eulenburg | CLCN1 SCN4 |
| Parkinson-Dystonie Syndrom | ATP1A3 GCH1 PLA2G6 PRKRA SLC6A3 SPR TAF1 TH |
| Parkinson-Krankheit | ATP13A2 ATP1A3 COQ2 DNAJC6 EIF4G1 FBXO7 GCH1 GIGYF2 HTRA2 PARK2 PARK7 PINK1 PLA2G6 SNCA SNCB SYNJ1 UCHL1 VPS35 |
| Paroxysmalen kinesiogenen Dyskinesien | PRRT2 |
| Pelizaeus-Merzbacher-Krankheit | AIMP1 FAM126A GJC2 HSPD1 PLP1 POLR3A POLR3B TUBB4A |
| Pendred Syndrom | DUOX2 DUOXA2 IYD SLC26A4 SLC5A5 TG TPO |
| Riesenaxonneuropathie | DCAF8 GAN |
| Schwerhörigkeitin Vorb. |
| Spastische Ataxie | AFG3L2 MARS2 MTPAP SACS |
| Spastische Paraplegie | ALS2 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 Ataxie | ADCK3 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 HNPP | PMP22 |