Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808 39 371
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692 39 55
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615 39 49
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808 39 21
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769 39 17
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808 39 3
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 38 249
HBB P68871 hemoglobin subunit beta 1.2E-09 0.494 0.808 38 169
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
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654 38 16
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615 38 11
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846 38 5
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692 37 171
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731 37 82
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
FLG-AS1 FLG antisense RNA 1 0.700 0.538 37 21
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769 37 17
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846 37 14
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 37 14
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462 37 3
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654 37 2
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654 36 154
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808 36 96