Disease: Blepharoptosis
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
NDUFS4 O43181 NADH:ubiquinone oxidoreductase subunit S4 3.1E-04 0.587 0.808
SYNJ1 O43426 synaptojanin 1 Enzyme 0.43 0.576 0.577
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692
XRCC2 O43543 X-ray repair cross complementing 2 4.0E-07 0.512 0.731
NDUFB3 O43676 NADH:ubiquinone oxidoreductase subunit B3 1.6E-05 0.705 0.538
NDUFA2 O43678 NADH:ubiquinone oxidoreductase subunit A2 Enzyme 0.77 0.617 0.577
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
HS6ST1 O60243 heparan sulfate 6-O-sulfotransferase 1 Enzyme 0.92 0.617 0.731
FGF17 O60258 fibroblast growth factor 17 Signaling 0.96 0.593 0.692
KIAA0556 O60303 KIAA0556 1.2E-29 0.644 0.538
CEP104 O60308 centrosomal protein 104 1.2E-12 0.670 0.423
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
PEX10 O60683 peroxisomal biogenesis factor 10 5.4E-04 0.584 0.654
HCN1 O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.00 0.564 0.654
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
LRP4 O75096 LDL receptor related protein 4 1.4E-06 0.568 0.692
NDUFS7 O75251 NADH:ubiquinone oxidoreductase core subunit S7 0.91 0.579 0.769
NDUFS2 O75306 NADH:ubiquinone oxidoreductase core subunit S2 Enzyme 1.4E-03 0.601 0.654