Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
CHAF1B Q13112 chromatin assembly factor 1 subunit B Nucleic acid binding 0.43 0.663 0.538
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
CDK20 Q8IZL9 cyclin dependent kinase 20 Kinase 5.9E-14 0.682 0.462
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
MTFMT Q96DP5 mitochondrial methionyl-tRNA formyltransferase Enzyme 1.5E-07 0.595 0.808
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308
KIF5B P33176 kinesin family member 5B Cellular structure 0.99 0.604 0.538
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
MAGED2 Q9UNF1 MAGE family member D2 Cell adhesion 1.00 0.691 0.462
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769