Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
DCC P43146 DCC netrin 1 receptor 0.99 0.471 0.808
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808
PCYT1A P49585 phosphate cytidylyltransferase 1, choline, alpha 2.0E-05 0.485 0.885
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SMS P52788 spermine synthase 0.97 0.491 0.846
SLC17A5 Q9NRA2 solute carrier family 17 member 5 Transporter 6.9E-10 0.491 0.808
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
HPRT1 P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 0.94 0.500 0.808
SEMA3A Q14563 semaphorin 3A Signaling 0.98 0.500 0.808
FGF8 P55075 fibroblast growth factor 8 Signaling 0.68 0.507 0.769