All diseases

49 entries on 1 page. Showing entries 1 - 49.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00002 AD Alzheimer Disease 104300 - 634 - ABCA7, AGBL3, APOE, APP, ATP8B3, C16orf96, C3orf20, CASS4, CD2AP, CD33, CELF1, CENPJ, CFAP70, CHGB, CHMP2B, CLU, CR1, CST3, CTSF, EBLN1, 49 more - -
00003 ALS Amyotrophic Lateral Sclerosis 105400 - 1029 508 ALS2, ANG, ANXA11, APEX1, ARHGEF28, C9orf72, CCNF, CHCHD10, CHGB, CHMP2B, CYLD, DCTN1, DNAJC7, DPYSL3, ERLIN1, FUS, GLE1, GRN, HFE, HNRNPA1, 34 more - -
00001 ALXDRD Alexander Disease 203450 - 142 41 GFAP - -
00004 CD Canavan Disease 271900 - 80 - ASPA - -
00006 CJD Creutzfeldt-Jakob disease 123400 - 69 - PRNP, SPRN - -
00005 CS Cockayne Syndrome 216400 - 123 - ERCC5, ERCC6, ERCC8 - -
00019 DLB Lewy Body Dementia 127750 - 33 - CYP2D6, DNAJC13, GBA, LRRK2, PRNP, PSEN1, PSEN2, SNCA, SNCB - -
00023 DM Myotonic Dystrophy 160900 - - - - - -
00007 DMD Dystonia Musculorum Deformans 128100 - 173 - ADCY5, ATM, ATP1A3, GCH1, GNAL, PNKD, PRKRA, SGCE, SLC2A1, THAP1, TOR1A - -
00049 DNTC Diffuse Neurofibrillary Tangles with Calcification - - - - - - -
00008 FAN Familial Amyloid Neuropathy - - 147 - APOA1, GSN, TTR - -
00009 FFI Fatal Familial Insomnia 600072 - 8 - PRNP - -
00010 FTLD Frontotemporal Lobar Degeneration 607485 - 355 3 CCNF, CHCHD10, CHMP2B, CYLD, FUS, GFAP, GRN, GSK3B, LRRK2, MAPT, NEK1, NOTCH3, OPTN, PRNP, PSEN1, SOD1, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VCP - -
00011 GSS Gerstmann-Straussler-Scheinker Disease 137440 - 37 - PRNP - -
00015 HD Huntington Disease 143100 - - - - - -
00050 Healthy/Control Healthy individual / control - - - - - - -
00014 HMSN Hereditary Sensory and Motor Neuropathy - - 245 - 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 - FAM134B, IKBKAP, NGF, NTRK1, PRNP, RAB7A, SPTLC1, SPTLC2, WNK1 - -
00016 KURU Kuru 245300 - 1 - PRNP - -
00017 LD Lafora Disease 254780 - 117 - EPM2A, NHLRC1 - -
00042 LE Limbic Encephalitis - - - - - - -
00041 LEMS Lambert-Eaton Myasthenic Syndrome - - 2 - SYT2 - -
00018 LNS Lesch-Nyhan Syndrome 300322 - 173 - HPRT1 - -
00022 MC Myotonia Congenita 160800 - 114 - CLCN1, SCN4A - -
00020 MK Menkes Kinky Hair Syndrome 309400 - 163 - ATP7A - -
00021 MSA Multiple System Atrophy 146500 - 26 - COQ2, POLG - -
00043 MT Myelitis, Transverse - - - - - - -
00025 NCL Neuronal Ceroid-Lipofuscinoses 256370 - 392 - CLCN6, CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, POLG, PPT1, SGSH, TPP1 - -
00024 NF2 Neurofibromatosis type II 101000 - 107 - NF2 - -
00044 OMS Opsoclonus-Myoclonus Syndrome - - - - - - -
00027 OPA Optic Atrophy 165500 - 296 - AFG3L2, MFN2, OPA1, OPA3, SLC25A46 - -
00026 OPCA Olivopontocerebellar Atrophies 164700 - - - - - -
00031 PBP Progressive Bulbar Palsy - - 3 - SOD1, TTR - -
00045 PCD Paraneoplastic Cerebellar Degeneration - - - - - - -
00029 PD Parkinson Disease 168600 - 558 1 ADORA1, DNAJC13, FBXO7, LRRK2, MAPT, PARK2, PARK7, PINK1, PODXL, PRNP, PTRHD1, RIC3, SNCA, SYNJ1, VPS35 - -
00028 PKAN Pantothenate Kinase-Associated Neurodegeneration 234200 - 132 - PANK2, RAB39B - -
00030 PMD Pelizaeus–Merzbacher Disease 312080 - 96 - PLP1 - -
00046 PP Paraneoplastic Polyneuropathy - - - - - - -
00047 PPS Postpoliomyelitis Syndrome - - - - - - -
00032 PSP Progressive Supranuclear Palsy 601104 - 16 - DCTN1, MAPT, PARK2 - -
00033 RTT Rett Syndrome 312750 - 385 - CDKL5, FOXG1, MECP2 - -
00036 SCA Spinocerebellar Degenerations 164400 - 53 - AFG3L2, C10orf2, CACNA1A, CACNA1G, ELOVL4, ELOVL5, ITPR1, KCNC3, KCND3, SPTBN2, TGM6, TMEM240, TTBK2 - -
00048 SCD Subacute Combined Degeneration - - - - - - -
00034 SMA Spinal Muscular Atrophy 253300 - 90 - HEXA, IGHMBP2, LMNA, SMN1, VAPB - -
00037 TS Tourette Syndrome - - 6 - HDC, SLITRK1 - -
00040 TSC Tuberous Sclerosis 191100 - 383 - TSC1, TSC2 - -
00038 ULD Unverricht-Lundborg Syndrome 254800 - 19 - CSTB, PRICKLE1, SCARB2 - -
00012 WD Hepatolenticular Degeneration 277900 - 164 - ATP7B - -
00039 XBSN X-Linked Bulbo-Spinal Atrophy 313200 - - - - - -
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