Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SMARCA2 P51531 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Epigenetic regulator 1.00 0.527 0.769
MYH9 P35579 myosin heavy chain 9 1.00 0.505 0.808
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
THOC6 Q86W42 THO complex 6 4.8E-04 0.705 0.577
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
EARS2 Q5JPH6 glutamyl-tRNA synthetase 2, mitochondrial Enzyme 1.1E-08 0.666 0.538
NDP Q00604 norrin cystine knot growth factor NDP 0.65 0.566 0.692
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
TMEM87B Q96K49 transmembrane protein 87B 3.7E-13 0.861 0.115
HOOK2 Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 4.6E-18 0.659 0.654
ZBTB20 Q9HC78 zinc finger and BTB domain containing 20 0.97 0.566 0.731
CELSR2 Q9HCU4 cadherin EGF LAG seven-pass G-type receptor 2 G-protein coupled receptor 1.00 0.656 0.577
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385
NUP214 P35658 nucleoporin 214 Nucleic acid binding 5.5E-02 0.638 0.385
CDK8 P49336 cyclin dependent kinase 8 Kinase 0.41 0.597 0.654
FAM98C Q17RN3 family with sequence similarity 98 member C 1.1E-07 0.931 0.115
SLC12A6 Q9UHW9 solute carrier family 12 member 6 Transporter 1.1E-02 0.603 0.500
IFT122 Q9HBG6 intraflagellar transport 122 2.4E-24 0.560 0.846