PDE4D, phosphodiesterase 4D, 5144

N. diseases: 210; N. variants: 68
Disease: Acrodysostosis ×
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: rs1277191501
rs1277191501 		0.925 0.280 5 58975716 missense variant G/A snv
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs371950648
rs371950648 		0.925 0.280 5 58975740 missense variant G/A snv 1.1E-04 1.3E-04
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs374011584
rs374011584 		0.925 0.280 5 58975776 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs397514467
rs397514467 		0.925 0.240 5 58976421 missense variant T/G snv
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012