Disease: Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462
RAPSN Q13702 receptor associated protein of the synapse 1.5E-03 0.593 0.731