PDE6D, phosphodiesterase 6D, 5147

N. diseases: 79; N. variants: 3
Disease: Oculomotor apraxia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1559307932
rs1559307932 		0.807 0.360 2 231737190 frameshift variant -/C ins
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0