Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
COL17A1 Q9UMD9 collagen type XVII alpha 1 chain 2.3E-27 0.545 0.769
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
EFL1 Q7Z2Z2 elongation factor like GTPase 1 Enzyme 5.1E-08 0.638 0.577
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
RHOBTB2 Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 1.3E-02 0.631 0.615
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
PPOX P50336 protoporphyrinogen oxidase 2.8E-02 0.678 0.500
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769