Disease: Nystagmus, CTCAE 5.0
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
ATN1 P54259 atrophin 1 1.00 0.409 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
BMP4 P12644 bone morphogenetic protein 4 Signaling 0.96 0.422 0.808
TTR P02766 transthyretin Transporter 0.52 0.423 0.885
HSPD1 P10809 heat shock protein family D (Hsp60) member 1 0.99 0.432 0.808
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
PTPN22 Q9Y2R2 protein tyrosine phosphatase non-receptor type 22 3.5E-21 0.438 0.846
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846