All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05397 CCM1 cerebral cavernous malformations, type 1 116860 AD 26 25 KRIT1 - -
05316 COXPD combined oxidative phosphorylation deficiency - - 14 14 GTPBP3, NFS1, NSUN3, PTCD3, SMCR7, TRIT1 - -
06028 COXPD35 Combined oxidative phosphorylation deficiency 35 617873 AR - - TRIT1 - -
00383 NS Noonan syndrome (NS) - - 232 225 BRAF, KRAS, LZTR1, NRAS, PTPN11, RAF1, RIT1, SOS1, SOS2, SPRED2 - autosomal dominant
03906 NS8 Noonan syndrome, type 8 (NS-8) 615355 AD 6 6 RIT1 - -
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