Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654 91 14
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731 83 60
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577 69 37
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692 68 3
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731 62 13
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731 57 8
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577 54 4
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654 47 11
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692 46 51
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
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 42 82
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 41 96
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885 41 38
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692 41 9
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731 40 74
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
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846 36 19
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 35 20
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462 35 11
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731 34 11