Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
MPDU1 O75352 mannose-P-dolichol utilization defect 1 1.0E-05 0.682 0.500
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
TYR P14679 tyrosinase Enzyme 5.0E-32 0.473 0.808
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
XPA P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 7.9E-05 0.520 0.846
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654