rs745886248, SELENON

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Broad thumbs
CUI: C0426891
Disease: Broad thumbs
0.700 GeneticVariation CLINVAR
Thoracic kyphosis
CUI: C1184919
Disease: Thoracic kyphosis
0.700 GeneticVariation CLINVAR
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
0.700 GeneticVariation CLINVAR
Congenital hypoplasia of radius
CUI: C0685381
Disease: Congenital hypoplasia of radius
0.700 GeneticVariation CLINVAR
Gastroparesis
CUI: C0152020
Disease: Gastroparesis
0.700 GeneticVariation CLINVAR
Hyperemesis Gravidarum
CUI: C0020450
Disease: Hyperemesis Gravidarum
0.700 GeneticVariation CLINVAR
Limited pronation/supination of forearm
CUI: C1861331
Disease: Limited pronation/supination of forearm
0.700 GeneticVariation CLINVAR
Decreased tendon reflex
CUI: C0700078
Disease: Decreased tendon reflex
0.700 GeneticVariation CLINVAR
Limited knee flexion/extension
CUI: C1968606
Disease: Limited knee flexion/extension
0.700 GeneticVariation CLINVAR
Triangular-shaped open mouth
CUI: C1859292
Disease: Triangular-shaped open mouth
0.700 GeneticVariation CLINVAR
Velopharyngeal Insufficiency
CUI: C0042454
Disease: Velopharyngeal Insufficiency
0.700 GeneticVariation CLINVAR
Ulnar deviation of the wrist
CUI: C0231678
Disease: Ulnar deviation of the wrist
0.700 GeneticVariation CLINVAR
Lordosis
CUI: C0024003
Disease: Lordosis
0.700 GeneticVariation CLINVAR
Eichsfeld type congenital muscular dystrophy
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
0.700 GeneticVariation CLINVAR
Short hard palate
CUI: C4023918
Disease: Short hard palate
0.700 GeneticVariation CLINVAR
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
0.700 GeneticVariation CLINVAR
Pulmonary Embolism
CUI: C0034065
Disease: Pulmonary Embolism
0.700 GeneticVariation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 GeneticVariation CLINVAR
Restrictive deficit on pulmonary function testing
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
0.700 GeneticVariation CLINVAR
Myopathy
CUI: C0026848
Disease: Myopathy
0.700 GeneticVariation CLINVAR
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
0.700 GeneticVariation CLINVAR
Flexion contracture of hip
CUI: C0409354
Disease: Flexion contracture of hip
0.700 GeneticVariation CLINVAR
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
0.700 GeneticVariation CLINVAR
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
0.700 GeneticVariation CLINVAR
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
0.700 GeneticVariation CLINVAR