Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846 26 6
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846 22 53
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846 21 14
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846 18 8
GHR P10912 growth hormone receptor Signaling 8.4E-05 0.490 0.846 11 26
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846 8 14
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808 76 33
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808 62 28
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808 48 17
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808 44 16
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808 39 21
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808 38 68
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 34 121
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808 33 264
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808 30 12
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 29 36
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808 27 14
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 23 125
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808 19 10
MYCN P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 0.89 0.454 0.808 18 14
MTFMT Q96DP5 mitochondrial methionyl-tRNA formyltransferase Enzyme 1.5E-07 0.595 0.808 17 11