Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TTN-AS1 TTN antisense RNA 1 0.599 0.577
FLG-AS1 FLG antisense RNA 1 0.700 0.538
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
EMC1-AS1 EMC1 antisense RNA 1 0.792 0.385
AP4B1-AS1 AP4B1 antisense RNA 1 0.805 0.231
SRD5A3-AS1 SRD5A3 antisense RNA 1 0.931 0.077
NR2F1-AS1 NR2F1 antisense RNA 1 0.780 0.308
BDNF-AS BDNF antisense RNA 0.638 0.538
CCDC151 A5D8V7 coiled-coil domain containing 151 3.5E-15 0.659 0.577
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
SPTBN2 O15020 spectrin beta, non-erythrocytic 2 9.9E-05 0.619 0.731
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
NPC1 O15118 NPC intracellular cholesterol transporter 1 Transporter 6.5E-06 0.518 0.692
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
FOXP2 O15409 forkhead box P2 1.00 0.545 0.808
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308
GRID2 O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 1.00 0.670 0.500
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846