rs768643552, PMPCA

N. diseases: 13
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.
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Chronic lactic acidosis
CUI: C1839437
Disease: Chronic lactic acidosis
3 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Diffuse cerebellar atrophy
CUI: C1854699
Disease: Diffuse cerebellar atrophy
4 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Global brain atrophy
CUI: C0241816
Disease: Global brain atrophy
6 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Hydrocephalus, Normal Pressure
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
6 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Hypoventilation
CUI: C3203358
Disease: Hypoventilation
2 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Restrictive external ophthalmoplegia
CUI: C1865918
Disease: Restrictive external ophthalmoplegia
2 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0