rs1555648288, PIEZO2

N. diseases: 22
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Narrow nasal ridge
CUI: C1837761
Disease: Narrow nasal ridge
0.700 GeneticVariation CLINVAR
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
0.700 GeneticVariation CLINVAR
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
0.700 GeneticVariation CLINVAR
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
0.700 GeneticVariation CLINVAR
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
0.700 GeneticVariation CLINVAR
Absent reflex
CUI: C0234146
Disease: Absent reflex
0.700 GeneticVariation CLINVAR
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
0.700 GeneticVariation CLINVAR
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
0.700 GeneticVariation CLINVAR
Radial deviation of hand
CUI: C0575803
Disease: Radial deviation of hand
0.700 GeneticVariation CLINVAR
Limited shoulder movement
CUI: C1851313
Disease: Limited shoulder movement
0.700 GeneticVariation CLINVAR
Abnormality of the humerus
CUI: C4021742
Disease: Abnormality of the humerus
0.700 GeneticVariation CLINVAR
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
0.700 GeneticVariation CLINVAR
Dysplasia of the femoral head
CUI: C4021251
Disease: Dysplasia of the femoral head
0.700 GeneticVariation CLINVAR
Romberg's sign positive
CUI: C0240914
Disease: Romberg's sign positive
0.700 GeneticVariation CLINVAR
Mild short stature
CUI: C3150077
Disease: Mild short stature
0.700 GeneticVariation CLINVAR
Limited hip movement
CUI: C1851542
Disease: Limited hip movement
0.700 GeneticVariation CLINVAR
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
0.700 GeneticVariation CLINVAR
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
0.700 GeneticVariation CLINVAR
Microstomia
CUI: C0026034
Disease: Microstomia
0.700 GeneticVariation CLINVAR
Spondylolisthesis at L5-S1
CUI: C3275799
Disease: Spondylolisthesis at L5-S1
0.700 GeneticVariation CLINVAR
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
0.700 GeneticVariation CLINVAR
Spondylolysis
CUI: C0038018
Disease: Spondylolysis
0.700 GeneticVariation CLINVAR