Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
FLG-AS1 FLG antisense RNA 1 0.700 0.538
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
TBX2 Q13207 T-box transcription factor 2 Transcription factor 0.99 0.544 0.769
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
KLC4 Q9NSK0 kinesin light chain 4 1.2E-03 0.743 0.308
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
TMEM256-PLSCR3 TMEM256-PLSCR3 readthrough (NMD candidate) 5.9E-03 0.861 0.154