Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577 45 38
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846 45 34
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423 45 9
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 44 888
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615 44 57
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731 44 43
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692 44 42
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808 44 16
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769 43 64
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846 43 27
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808 43 3
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500 43 2
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731 43 1
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 42 82
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 41 324
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 41 96
PSEN1 P49768 presenilin 1 Enzyme 0.97 0.469 0.846 41 49
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885 41 38
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885 41 32
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692 41 9
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 40 115
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731 40 74