Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
POLR3H Q9Y535 RNA polymerase III subunit H Enzyme 6.0E-03 0.769 0.346
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692
RIN2 Q8WYP3 Ras and Rab interactor 2 Enzyme modulator 8.1E-04 0.623 0.692
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808