IRX5, iroquois homeobox 5, 10265

N. diseases: 63; N. variants: 3
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: rs387907198
rs387907198
1.000 0.280 16 54932696 missense variant G/C snv
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2012 2012
dbSNP: rs786200931
rs786200931
1.000 0.280 16 54932746 missense variant C/A snv
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2012 2012
dbSNP: rs1057518725
rs1057518725
1.000 0.280 16 54933783 frameshift variant TAAAGAC/GT delins
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0