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
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
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
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
NPC1 O15118 NPC intracellular cholesterol transporter 1 Transporter 6.5E-06 0.518 0.692
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
HDAC3 O15379 histone deacetylase 3 Epigenetic regulator 0.57 0.511 0.731
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
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
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
CCN6 O95389 cellular communication network factor 6 Signaling 6.2E-04 0.568 0.731
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
EYA4 O95677 EYA transcriptional coactivator and phosphatase 4 4.9E-02 0.604 0.615
CP P00450 ceruloplasmin Enzyme 4.2E-10 0.466 0.846
HPRT1 P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 0.94 0.500 0.808