Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CDK20 Q8IZL9 cyclin dependent kinase 20 Kinase 5.9E-14 0.682 0.462
CHAF1B Q13112 chromatin assembly factor 1 subunit B Nucleic acid binding 0.43 0.663 0.538
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
FAS P25445 Fas cell surface death receptor 0.81 0.372 0.923
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308
HIVEP1 P15822 HIVEP zinc finger 1 1.00 0.711 0.500
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
KIF5B P33176 kinesin family member 5B Cellular structure 0.99 0.604 0.538
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
MAGED2 Q9UNF1 MAGE family member D2 Cell adhesion 1.00 0.691 0.462
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13 Q9UHV7 mediator complex subunit 13 1.00 0.711 0.538
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808