All diseases

14 entries on 1 page. Showing entries 1 - 14.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02020 - alpha-2-plasmin inhibitor deficiency 262850 AR - - SERPINF2 - -
03652 CMTDIE Charcot-Marie-Tooth disease, dominant intermediate, type E (CMTDIE) 614455 AD - - INF2 - -
03511 DKCA3 dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3) 613990 AD 18 18 TINF2 - -
03289 FSGS5 glomerulosclerosis, segmental, focal, type 5 (FSGS-5) 613237 - 1 1 INF2 - -
01698 GDHS ataxia, cerebellar, and hypogonadotropic hypogonadism 212840 AR 2 2 RNF216 - -
02638 meningioma meningioma, familial, susceptibility to 607174 AD 65 65 MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU - -
02636 MYMY2 moyamoya disease, type 2 (MYMY-2) 607151 - - - RNF213 - -
00515 NF neurofibromatosis (NF) - - 548 347 NF1, NF2 - -
01159 NF2 neurofibromatosis, type 2 (NF-2) 101000 - 138 14 NF2 - -
02055 Revesz Revesz syndrome 268130 AD 2 2 TINF2 - -
03082 RRQTL1 recombination rate quantitative trait locus 1 (RRQTL-1) 612042 - - - RNF212 - -
05562 SPGF spermatogenic failure (SPGF) - - 96 94 ACRC, AURKC, C14orf39, C15orf43, CCDC62, CFAP58, DNAH1, DPY19L2, FANCM, FBXO43, GGN, IFT74, MEIOB, PDHA2, PLCZ1, PNLDC1, RNF212, RPL10L, SOHLH1, STAG3, 3 more - -
06919 SPGF62 spermatogenic failure, type 62 619673 AR - - RNF212 - -
05389 SWNTS Schwannomatosis (SWNTS) - - 89 88 LZTR1, NF2, SMARCB1 - -
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