PRKCSH, protein kinase C substrate 80K-H, 5589

N. diseases: 44; N. variants: 5
Disease: Episodic ataxia type 2 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.010 Biomarker disease BEFREE However, no potential disease causing mutation was found and therefore the PRKCSH gene can be excluded for both FHM and EA-2. 9043864 1996