Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
WDR6 Q9NNW5 WD repeat domain 6 2.1E-09 1 1
H2AP O75409 H2A.P histone Nucleic acid binding 1 1
ITIH6 Q6UXX5 inter-alpha-trypsin inhibitor heavy chain family member 6 1.5E-24 1 1
KCND1 Q9NSA2 potassium voltage-gated channel subfamily D member 1 Ion channel 0.26 1 2
DPRX A6NFQ7 divergent-paired related homeobox 2.4E-06 1 1
ZNF446 Q9NWS9 zinc finger protein 446 5.7E-08 1 1
CEP76 Q8TAP6 centrosomal protein 76 4.5E-09 1 1
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 66 35
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 153 73
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 60 39
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 36 77
PTCH1 Q13635 patched 1 1.00 0.398 0.885 116 144
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885 29 31
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
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
ROS1 P08922 ROS proto-oncogene 1, receptor tyrosine kinase Kinase 1.6E-72 0.439 0.885 3 3
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 47 887
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
STAT5B P51692 signal transducer and activator of transcription 5B Nucleic acid binding 1.00 0.442 0.808 8 6