Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
TYR P14679 tyrosinase Enzyme 5.0E-32 0.473 0.808
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808