Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
FLG-AS1 FLG antisense RNA 1 0.700 0.538
EMC1-AS1 EMC1 antisense RNA 1 0.792 0.385
SNHG14 small nucleolar RNA host gene 14 0.656 0.577
CTBP1-AS CTBP1 antisense RNA 0.760 0.346
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
LRRK2 Q5S007 leucine rich repeat kinase 2 Kinase 2.6E-30 0.510 0.808
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
PDE6A P16499 phosphodiesterase 6A 6.6E-25 0.691 0.269
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654
ZFYVE26 Q68DK2 zinc finger FYVE-type containing 26 4.7E-23 0.636 0.615
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
VARS2 Q5ST30 valyl-tRNA synthetase 2, mitochondrial 5.8E-17 0.666 0.577
SH3TC2 Q8TF17 SH3 domain and tetratricopeptide repeats 2 8.3E-16 0.666 0.385