All diseases

12 entries on 1 page. Showing entries 1 - 12.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01698 - ataxia, cerebellar, and hypogonadotropic hypogonadism 212840 0 0 RNF216 - -
02020 - alpha-2-plasmin inhibitor deficiency 262850 0 0 SERPINF2 - -
03652 CMTDIE Charcot-Marie-Tooth disease, dominant intermediate, type E (CMTDIE) 614455 0 0 INF2 - -
03511 DKCA-3 dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3) 613990 17 17 TINF2 - -
03289 FSGS-5 glomerulosclerosis, segmental, focal, type 5 (FSGS-5) 613237 0 0 INF2 - -
02638 meningioma meningioma, familial, susceptibility to 607174 38 38 MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU - -
02636 MYMY-2 moyamoya disease, type 2 (MYMY-2) 607151 0 0 RNF213 - -
00515 NF neurofibromatosis (NF) - 2 2 NF1, NF2 - -
01159 NF-2 neurofibromatosis, type 2 (NF-2) 101000 118 4 NF2 - -
02055 Revesz Revesz syndrome 268130 2 2 TINF2 - -
03082 RRQTL-1 recombination rate quantitative trait locus 1 (RRQTL-1) 612042 0 0 RNF212 - -
05389 SWNTS Schwannomatosis (SWNTS) - 87 87 LZTR1, NF2, SMARCB1 - -