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
BDNF-AS BDNF antisense RNA 0.638 0.538
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
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
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
FIBP O43427 FGF1 intracellular binding protein 4.4E-06 0.674 0.538
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
TRIO O75962 trio Rho guanine nucleotide exchange factor Kinase 1.00 0.556 0.731
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
PAH P00439 phenylalanine hydroxylase 6.4E-23 0.516 0.769
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
AHCY P23526 adenosylhomocysteinase Enzyme 3.6E-02 0.582 0.692
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808