rs387906905, TRPV4

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
13 0.882 0.120 12 109798819 missense variant C/T snv 0.810 1.000 10 2010 2014
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.882 0.120 12 109798819 missense variant C/T snv 0.700 1.000 1 2011 2011
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.120 12 109798819 missense variant C/T snv 0.700 1.000 1 2011 2011
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
15 0.882 0.120 12 109798819 missense variant C/T snv 0.700 1.000 1 2011 2011
Reflex, Abnormal
CUI: C0034933
Disease: Reflex, Abnormal
1 0.882 0.120 12 109798819 missense variant C/T snv 0.700 1.000 1 2011 2011
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.882 0.120 12 109798819 missense variant C/T snv 0.700 0
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
12 0.882 0.120 12 109798819 missense variant C/T snv 0.700 0
Lower limb amyotrophy
CUI: C4024921
Disease: Lower limb amyotrophy
4 0.882 0.120 12 109798819 missense variant C/T snv 0.700 0
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.882 0.120 12 109798819 missense variant C/T snv 0.700 0
Scapuloperoneal Form of Spinal Muscular Atrophy
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
5 0.882 0.120 12 109798819 missense variant C/T snv 0.010 1.000 1 2017 2017