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
SNHG14 small nucleolar RNA host gene 14 0.656 0.577
SRD5A3-AS1 SRD5A3 antisense RNA 1 0.931 0.077
SOX9-AS1 SOX9 antisense RNA 1 0.839 0.269
LINC02245 long intergenic non-protein coding RNA 2245 0.821 0.231
GNAS-AS1 GNAS antisense RNA 1 0.729 0.346
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
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
SETD1A O15047 SET domain containing 1A, histone lysine methyltransferase 1.00 0.619 0.615
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
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
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
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
DSCAM O60469 DS cell adhesion molecule 1.00 0.686 0.385