AlleleSiDb Browse

  1. Alzheimers disease(64)
  2. Amyloidogenic transthyretin amyloidosis(5)
  3. Amyotrophic Lateral Sclerosis (ALS)(279)
  4. Brain edema(51)
  5. Cancer(130)
  6. Central core disease (CCD)(20)
  7. Congenital muscular dystrophy type Ullrich (UCMD)(11)
  8. Congenital myasthenic syndrome (SCCMS)(6)
  9. Dentatorubral-pallidoluysian atrophy (DRPLA)(49)
  10. Dominant dystrophic epidermolysis bullosa(DDEB)(66)
  11. Dominant ullrich muscular dystrophy(22)
  12. DYT1 dystonia(3)
  13. Early onset torsion dystonia (DYT1)(9)
  14. Ectrodactily-ectodermal dysplasia and cleft lip/palate (EEC)(28)
  15. Ectrodactyly-Ectodermal Dysplasia-Clefting syndrome 3 (EEC3) (19)
  16. Emphysema/Alpha-1 antitrypsin deficiency (AATD)(2)
  17. Epidermolysis bullosa simplex (EBS)(76)
  18. Epidermolytic palmoplantar keratoderma (EPPK)(76)
  19. Familial amyloidotic polyneuropathy (FAP)(1)
  20. Fibrodysplasia Ossificans Progressiva (FOP)(69)
  21. Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)(28)
  22. Hair shaft blebbing (40)
  23. Hemolytic uremic syndrome(786)
  24. HLA incompatibility(24)
  25. Human hypertrophic cardiomyopathy (HCM)(18)
  26. Huntington disease (HD)(449)
  27. Lattice corneal dystrophy type I (LCDI)(23)
  28. Long QT Syndrome (LQTS)(4)
  29. Machado-Joseph Disease (MJD)/Spinocerebellar ataxia type 3 (SCA3)(44)
  30. Malignanat Hyperthermia (MH)(30)
  31. Malignant melanoma(14)
  32. Meesmann epithelial corneal dystrophy (MECD)(58)
  33. NA(912)
  34. Neurological disorder(7)
  35. Osteogenesis Imperfecta (OI)(23)
  36. Pachyonychia congenita (PC)(39)
  37. Pancreatic cancer(4)
  38. Parkinsons disease (PD)(177)
  39. PPIB-Related Osteogenesis Imperfecta (Type IX)(229)
  40. Prion disease/Creutzfeldt-Jakob disease(28)
  41. Prion disease/Gerstmann-Straussler disease(75)
  42. Sialuria(1)
  43. Sickle cell anemia(8)
  44. Spinal and Bulbar Muscular Atrophy, X-linked 1; SMAX1/Kennedy’s disease(11)
  45. Spino Cerebellar Ataxia type-1 (SCA-1)(5)
  46. Spino Cerebellar Ataxia type-3 (SCA-3)(7)
  47. Spino Cerebellar Ataxia type-7 (SCA-7)(15)
  48. Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM)(19)
  49. Vascular Ehlers-Danlos Syndrome (vEDs)(19)
  50. Werner syndrome(18)