Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 153 73
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 66 35
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923 30 24
PTCH1 Q13635 patched 1 1.00 0.398 0.885 116 144
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 47 887
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885 41 32
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 36 77
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885 35 28
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885 29 31
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885 6 1
ROS1 P08922 ROS proto-oncogene 1, receptor tyrosine kinase Kinase 1.6E-72 0.439 0.885 3 3
BRD4 O60885 bromodomain containing 4 Epigenetic regulator 1.00 0.446 0.885 1 1
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 78 76
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 60 39
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 50 138
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846 36 19