Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423
RIN2 Q8WYP3 Ras and Rab interactor 2 Enzyme modulator 8.1E-04 0.623 0.692
POLR3H Q9Y535 RNA polymerase III subunit H Enzyme 6.0E-03 0.769 0.346
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769