Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
FLG-AS1 FLG antisense RNA 1 0.700 0.538 37 21
SNHG14 small nucleolar RNA host gene 14 0.656 0.577 11 125
EP300-AS1 EP300 antisense RNA 1 0.839 0.231 5 12
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769 16 147
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769 27 294
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808 23 15
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885 41 38
RTTN Q86VV8 rotatin 9.0E-34 0.619 0.654 7 7
CENPJ Q9HC77 centromere protein J Enzyme 2.1E-27 0.546 0.846 10 24
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808 33 229
PCDH15 Q96QU1 protocadherin related 15 8.0E-25 0.601 0.577 11 96
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 42 82
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769 9 33
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 35 20
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731 30 148
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308 7 1
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654 22 50
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808 15 167
ZNF142 P52746 zinc finger protein 142 Transcription factor 4.8E-16 0.861 0.192 5 20
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731 32 24
COG6 Q9Y2V7 component of oligomeric golgi complex 6 6.4E-16 0.644 0.577 4 8
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654 73 2