Source: INFERRED ×
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.
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.830 1.000 0 2004 2015
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.820 1.000 0 2004 2009
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.710 1.000 7 2004 2016
Foot dorsiflexor weakness
CUI: C1866141
Disease: Foot dorsiflexor weakness
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.700 0
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.700 0