Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615
ATP1A2 P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 1.8E-04 0.597 0.615
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
GCK P35557 glucokinase Kinase 0.63 0.523 0.808
ALS2 Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 8.7E-12 0.647 0.423