All diseases

26 entries on 1 page. Showing entries 1 - 26.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03730 - CFHR5 deficiency 614809 AD - - CFHR5 - -
01838 AHUS1 hemolytic-uremic syndrome, atypical, type 1 (AHUS1) 235400 AD;AR - - CFH, CFHR1, CFHR3 - -
00456 ALS1 sclerosis, lateral, amyotrophic, type 1 (ALS1) 105400 AD;AR 6 6 DCTN1, NEFH, PRPH, SOD1 - -
00347 ARMD macular degeneration, age-related (ARMD) - - 30 34 ABCA4, CFH, FBLN5, HMCN1 - -
00395 ARMD1 macular degeneration, age-related, type 1 (ARMD-1) 603075 AD - - APOE, CFHR1, CFHR3, HMCN1, PLEKHA1 - -
00348 ARMD4 macular degeneration, age-related, type 4 (ARMD-4) 610698 - - - CFH - -
07072 ATFB8 fibrillation, atrial, familial, type 8, susceptibility to 613055 AD - - ZFHX3 - -
00346 BLD basal laminar drusen (BLD) 126700 AD - - CFH - -
01524 cancer, prostate cancer, prostate 176807 AD;SMu 252 204 AR, BRCA2, CD82, CDH1, CHEK2, HIP1, KLF6, MAD1L1, MSR1, MXI1, PTEN, ZFHX3 - -
00345 CFHD deficiency, complement factor H (CFHD) 609814 AD;AR - - CFH - -
06538 CMT2CC Charcot-Marie-Tooth disease, axonal, type 2CC 616924 AD - - NEFH - -
02683 EJA1 epilepsy, juvenile absence, susceptibility to, type 1 (EJA-1) 607631 AD 1 1 EFHC1 - -
01952 EJM epilepsy, myoclonic, juvenile (EJM) 254770 AD 41 41 EFHC1 - autosomal dominant
05351 FCMSU faciocardiomusculoskeletal syndrome, Uruguay type (FCMSU) - - - - FHL1 - -
06842 FCMSU Uruguay faciocardiomusculoskeletal syndrome 300280 XLR - - FHL1 - -
02608 FMRD deficiency, fumarase (FMRD) 606812 AR - - FH - -
04476 HLRCC leiomyomatosis and renal cell cancer (HLRCC) 150800 AD 6 5 FH - -
06225 MARSIS ?Marsili syndrome 147430 AD - - ZFHX2 - -
04575 MFHAS1 histiocytoma, fibrous, malignant (MFHAS-1) 605352 - - - MFHAS1 - -
05611 NDD neurodevelopmental disorder (NDD) - - 3539 3354 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 72 more - -
01535 PTOS1 ptosis, hereditary congenital, type 1 (PTOS1) 178300 AD - - ZFHX4 - -
02180 RBMX1A myopathy, reducing body, X-linked, type 1a (RBMX-1A) 300717 XLD - - FHL1 - -
02181 RBMX1B myopathy, reducing body, X-linked, type 1b (RBMX-1B) 300718 XL - - FHL1 - -
07071 SCA4 ataxia, spinocerebellar, type 4 600223 AD - - ZFHX3 - -
02178 SPM myopathy, scapuloperoneal, X-linked dominant (SPM) 300695 XLD 2 2 FHL1 - -
02179 XMPMA;EDMD6 myopathy, X-linked, with postural muscle atrophy (XMPMA, Emery-Dreifuss muscular dystrophy 6 (EDMD-6)) 300696 XLR 10 10 FHL1 - -
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