Disease: Global developmental delay
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
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769
OGT O15294 O-linked N-acetylglucosamine (GlcNAc) transferase 1.00 0.626 0.731
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 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
RNF113A O15541 ring finger protein 113A Enzyme 0.89 0.597 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885
NDUFS4 O43181 NADH:ubiquinone oxidoreductase subunit S4 3.1E-04 0.587 0.808
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692
GPAA1 O43292 glycosylphosphatidylinositol anchor attachment 1 5.5E-09 0.647 0.538
GRID2 O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 1.00 0.670 0.500
SYNJ1 O43426 synaptojanin 1 Enzyme 0.43 0.576 0.577
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
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
SLC25A20 O43772 solute carrier family 25 member 20 Transporter 1.2E-07 0.563 0.769
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846
PDE6D O43924 phosphodiesterase 6D Enzyme 6.4E-03 0.623 0.577
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