All diseases

20 entries on 1 page. Showing entries 1 - 20.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01535 - Ptosis, hereditary congenital 1 178300 - 0 0 ZFHX4 - -
03730 - CFHR5 deficiency 614809 - 0 0 CFHR5 - -
01838 AHUS-1 hemolytic-uremic syndrome, atypical, type 1 (AHUS-1) 235400 - 0 0 CFH, CFHR1, CFHR3 - -
00456 ALS-1 sclerosis, lateral, amyotrophic, type 1 (ALS-1) 105400 - 6 6 DCTN1, NEFH, PRPH, SOD1 - -
00347 ARMD macular degeneration, age-related (ARMD) - - 1 1 ABCA4, CFH, FBLN5, HMCN1 - -
00395 ARMD-1 macular degeneration, age-related, type 1 (ARMD-1) 603075 - 0 0 APOE, CFHR1, CFHR3, HMCN1, PLEKHA1 - -
00348 ARMD-4 macular degeneration, age-related, type 4 (ARMD-4) 610698 - 0 0 CFH - -
00346 BLD basal laminar drusen (BLD) 126700 - 0 0 CFH - -
01524 cancer, prostate cancer, prostate 176807 - 200 196 AR, BRCA2, CD82, CDH1, CHEK2, HIP1, KLF6, MAD1L1, MSR1, MXI1, PTEN, ZFHX3 - -
00345 CFHD deficiency, complement factor H (CFHD) 609814 - 0 0 CFH - -
02683 EJA-1 epilepsy, juvenile absence, susceptibility to, type 1 (EJA-1) 607631 - 0 0 EFHC1 - -
01952 EJM epilepsy, myoclonic, juvenile (EJM) 254770 - 41 41 EFHC1 - autosomal dominant
05351 FCMSU syndrome, faciocardiomusculoskeletal, Uruguay type (FCMSU) - - 0 0 FHL1 - -
02608 FMRD deficiency, fumarase (FMRD) 606812 - 0 0 FH - -
04476 HLRCC leiomyomatosis and renal cell cancer (HLRCC) 150800 - 1 0 FH - -
04575 MFHAS-1 histiocytoma, fibrous, malignant (MFHAS-1) 605352 - 0 0 MFHAS1 - -
02180 RBMX-1A myopathy, reducing body, X-linked, type 1a (RBMX-1A) 300717 - 0 0 FHL1 - -
02181 RBMX-1B myopathy, reducing body, X-linked, type 1b (RBMX-1B) 300718 - 0 0 FHL1 - -
02178 SPM myopathy, scapuloperoneal, X-linked dominant (SPM) 300695 - 2 2 FHL1 - -
02179 XMPMA;EDMD-6 myopathy, X-linked, with postural muscle atrophy (XMPMA, Emery-Dreifuss muscular dystrophy 6 (EDMD-6)) 300696 - 9 9 FHL1 - -
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