All diseases

50 entries on 1 page. Showing entries 1 - 50.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00002 AD Alzheimer Disease 104300 825 0 ABCA7, ABCB1, ADRA1A, AGBL3, ANKS1B, APOE, APP, ATP8B3, BCL3, BIN1, C16orf96, C1orf112, C3orf20, CASS4, CD2AP, CD33, CELF1, CELF2, CENPJ, CFAP70, 90 more - -
00003 ALS Amyotrophic Lateral Sclerosis 105400 754 0 ALS2, ANG, APEX1, ARHGEF28, C9orf72, CCNF, CHCHD10, CHGB, CHMP2B, DAO, DCTN1, FUS, GLE1, GRN, HFE, HNRNPA1, KIF5A, LIF, LRSAM1, MATR3, 21 more - -
00001 ALXDRD Alexander Disease 203450 108 0 GFAP - -
00004 CD Canavan Disease 271900 80 0 ASPA - -
00006 CJD Creutzfeldt-Jakob disease 123400 69 0 PRNP, SPRN - -
00005 CS Cockayne Syndrome 216400 123 0 ERCC5, ERCC6, ERCC8 - -
00019 DLB Lewy Body Dementia 127750 47 0 APOE, APP, CYP2D6, DNAJC13, GBA, LRRK2, PRNP, PSEN1, PSEN2, SCARB2, SNCA, SNCB - -
00023 DM Myotonic Dystrophy 160900 0 0 - - -
00007 DMD Dystonia Musculorum Deformans 128100 173 0 ADCY5, ATM, ATP1A3, GCH1, GNAL, PNKD, PRKRA, SGCE, SLC2A1, THAP1, TOR1A - -
00049 DNTC Diffuse Neurofibrillary Tangles with Calcification - 0 0 - - -
00008 FAN Familial Amyloid Neuropathy - 147 0 APOA1, GSN, TTR - -
00009 FFI Fatal Familial Insomnia 600072 8 0 PRNP - -
00010 FTLD Frontotemporal Lobar Degeneration 607485 377 0 CCNF, CHCHD10, CHMP2B, DAPK1, FUS, GFAP, GRN, GSK3B, LRRK2, MAPT, MOB3B, OPTN, PRNP, PSEN1, SOD1, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, UBQLN2, VCP - -
00011 GSS Gerstmann-Straussler-Scheinker Disease 137440 37 0 PRNP - -
00015 HD Huntington Disease 143100 0 0 - - -
00050 Healthy/Control Healthy individual / control - 0 0 - - -
00014 HMSN Hereditary Sensory and Motor Neuropathy - 246 0 DCAF8, DYNC1H1, EGR2, FGD4, FIG4, GDAP1, GJB1, HSPB2, HSPB8, KIF1B, LITAF, LMNA, MFN2, MPZ, MTMR2, NDRG1, NEFL, PEX7, PHYH, PMP22, 6 more - -
00013 HSAN Hereditary Sensory and Autonomic Neuropathy 201300 88 0 FAM134B, IKBKAP, NGF, NTRK1, PRNP, RAB7A, SPTLC1, SPTLC2, WNK1 - -
00016 KURU Kuru 245300 1 0 PRNP - -
00017 LD Lafora Disease 254780 117 0 EPM2A, NHLRC1 - -
00042 LE Limbic Encephalitis - 0 0 - - -
00041 LEMS Lambert-Eaton Myasthenic Syndrome - 2 0 SYT2 - -
00018 LNS Lesch-Nyhan Syndrome 300322 173 0 HPRT1 - -
00022 MC Myotonia Congenita 160800 114 0 CLCN1, SCN4A - -
00020 MK Menkes Kinky Hair Syndrome 309400 163 0 ATP7A - -
00021 MSA Multiple System Atrophy 146500 26 0 COQ2, POLG - -
00043 MT Myelitis, Transverse - 0 0 - - -
00025 NCL Neuronal Ceroid-Lipofuscinoses 256370 392 0 CLCN6, CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, POLG, PPT1, SGSH, TPP1 - -
00024 NF2 Neurofibromatosis type II 101000 107 0 NF2 - -
00044 OMS Opsoclonus-Myoclonus Syndrome - 0 0 - - -
00027 OPA Optic Atrophy 165500 296 0 AFG3L2, MFN2, OPA1, OPA3, SLC25A46 - -
00026 OPCA Olivopontocerebellar Atrophies 164700 0 0 - - -
00031 PBP Progressive Bulbar Palsy - 3 0 SOD1, TTR - -
00045 PCD Paraneoplastic Cerebellar Degeneration - 0 0 - - -
00029 PD Parkinson Disease 168600 628 0 ABCA7, ADORA1, APOE, BST1, BTNL2, CD2AP, CLU, CR1, DGKQ, DNAJC13, FBXO7, GAK, GALNT3, GBA, GCH1, HLA-DRA, LRRK2, MAPT, MS4A6A, NUCKS1, 23 more - -
00028 PKAN Pantothenate Kinase-Associated Neurodegeneration 234200 132 0 PANK2, RAB39B - -
00030 PMD Pelizaeus–Merzbacher Disease 312080 96 0 PLP1 - -
00046 PP Paraneoplastic Polyneuropathy - 0 0 - - -
00047 PPS Postpoliomyelitis Syndrome - 0 0 - - -
00032 PSP Progressive Supranuclear Palsy 601104 16 0 DCTN1, MAPT, PARK2 - -
00033 RTT Rett Syndrome 312750 385 0 CDKL5, FOXG1, MECP2 - -
00036 SCA Spinocerebellar Degenerations 164400 53 0 AFG3L2, C10orf2, CACNA1A, CACNA1G, ELOVL4, ELOVL5, ITPR1, KCNC3, KCND3, SPTBN2, TGM6, TMEM240, TTBK2 - -
00048 SCD Subacute Combined Degeneration - 0 0 - - -
00035 SMAA Spinal Muscular Atrophy of Adults - 41 0 HEXA, LMNA, SMN1, VAPB - -
00034 SMAC Spinal Muscular Atrophies of Childhood - 49 0 HEXA, IGHMBP2, SMN1 - -
00037 TS Tourette Syndrome - 6 0 HDC, SLITRK1 - -
00040 TSC Tuberous Sclerosis 191100 383 0 TSC1, TSC2 - -
00038 ULD Unverricht-Lundborg Syndrome 254800 19 0 CSTB, PRICKLE1, SCARB2 - -
00012 WD Hepatolenticular Degeneration 277900 164 0 ATP7B - -
00039 XBSN X-Linked Bulbo-Spinal Atrophy 313200 0 0 - - -