rs312262717, SPG11

N. diseases: 18
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.
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Delayed speech and language development
192 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Fecal Incontinence
CUI: C0015732
Disease: Fecal Incontinence
12 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Loss of ability to walk
CUI: C1849097
Disease: Loss of ability to walk
11 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Lower limb spasticity
CUI: C1271100
Disease: Lower limb spasticity
5 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Progressive spastic paraparesis
CUI: C0747251
Disease: Progressive spastic paraparesis
3 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
2897 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Spastic paraplegia 11, autosomal recessive
134 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Tremor of hands
CUI: C0239842
Disease: Tremor of hands
7 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
Urinary Incontinence
CUI: C0042024
Disease: Urinary Incontinence
14 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009