All diseases

11 entries on 1 page. Showing entries 1 - 11.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01698 - ataxia, cerebellar, and hypogonadotropic hypogonadism 212840 - - - RNF216 - -
02020 - alpha-2-plasmin inhibitor deficiency 262850 - - - SERPINF2 - -
03652 CMTDIE Charcot-Marie-Tooth disease, dominant intermediate, type E (CMTDIE) 614455 - - - INF2 - -
03511 DKCA-3 dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3) 613990 - - - TINF2 - -
03289 FSGS-5 glomerulosclerosis, segmental, focal, type 5 (FSGS-5) 613237 - - - INF2 - -
02638 meningioma meningioma, familial, susceptibility to 607174 - - - MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU - -
02636 MYMY-2 moyamoya disease, type 2 (MYMY-2) 607151 - - - RNF213 - -
01159 NF-2 neurofibromatosis, type 2 (NF-2) 101000 - - - NF2 - -
02055 Revesz Revesz syndrome 268130 - - - TINF2 - -
03082 RRQTL-1 recombination rate quantitative trait locus 1 (RRQTL-1) 612042 - - - RNF212 - -
00436 SWNTS-1 Schwannomatosis, type 1 (SWNTS-1) 162091 - - - LZTR1, NF2, SMARCB1 - -
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