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
06906 DEE encephalopathy, developmental and epileptic - - 269 261 ATP1A3, CELF2, DALRD3, DNM1, GAD1, GLUL, GNAO1, KCNA2, KCNH5, NEUROD2, NTRK2, TMEM63B - -
07102 DEE86 encephalopathy, developmental and epileptic, type 86 618910 AR - - DALRD3 - -
01588 ETM1 tremor, essential hereditary, type 1 (ETM1) 190300 AD - - DRD3 - -
02962 LCA12 Leber congenital amaurosis, type 12 (LCA-12) 610612 AR - - RD3 - -
00212 SCZD schizophrenia (SCZD) 181500 AD 80 70 AKT1, APOL2, APOL4, CHI3L1, COMT, DAO, DAOA, DISC1, DISC2, DRD3, DTNBP1, HTR2A, MTHFR, RTN4R - -
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