PDE4D, phosphodiesterase 4D, 5144

N. diseases: 210; N. variants: 68
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE ×
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: rs397514464
rs397514464 		1.000 0.240 5 59193511 missense variant G/T snv
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 4 2012 2013
dbSNP: rs397514465
rs397514465 		0.925 0.280 5 59193507 missense variant A/C;G snv
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 4 2012 2013
dbSNP: rs397514466
rs397514466 		1.000 0.240 5 59215856 missense variant A/C snv
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 4 2012 2013
dbSNP: rs397514467
rs397514467 		0.925 0.240 5 58976421 missense variant T/G snv
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 4 2012 2013
dbSNP: rs397514468
rs397514468 		1.000 0.240 5 59193502 missense variant G/C snv
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 4 2012 2013
dbSNP: rs397514469
rs397514469 		1.000 0.240 5 58975076 missense variant C/T snv
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 4 2012 2013
dbSNP: rs397515433
rs397515433 		1.000 0.240 5 59038869 missense variant G/A snv
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 4 2012 2013
dbSNP: rs587777188
rs587777188 		1.000 0.240 5 58975061 missense variant A/G snv
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 4 2012 2013
dbSNP: rs1554033934
rs1554033934 		1.000 0.240 5 58976418 missense variant T/C snv
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs387906744
rs387906744 		1.000 0.240 5 58975718 missense variant T/G snv
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0