rs782316919, SURF1

N. diseases: 9
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 1.000 7 1998 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 1.000 7 1998 2016
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 1.000 5 1998 2013
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
12 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
Pyramidal sign
CUI: C0234132
Disease: Pyramidal sign
10 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
SURF1-related Charcot-Marie-Tooth disease type 4
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
5 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0