Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 47 887
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 84 390
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 41 324
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769 27 294
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808 33 264
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846 32 164
PTCH1 Q13635 patched 1 1.00 0.398 0.885 116 144
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 50 138
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 23 125
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 34 121
PHEX P78562 phosphate regulating endopeptidase homolog X-linked Enzyme 1.00 0.548 0.808 11 107
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
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 36 77
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 78 76
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 153 73
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808 38 68
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577 31 68
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
WRN Q14191 WRN RecQ like helicase Enzyme 2.6E-34 0.524 0.808 8 57