Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ALDH1A3 P47895 aldehyde dehydrogenase 1 family member A3 Enzyme 0.14 0.578 0.654
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CAMK2G Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 1.00 0.670 0.462
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
COL4A2 P08572 collagen type IV alpha 2 chain 3.6E-15 0.563 0.654
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGF14 Q92915 fibroblast growth factor 14 Signaling 0.91 0.619 0.692
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FOXN1 O15353 forkhead box N1 0.94 0.615 0.654
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538
GSPT2 Q8IYD1 G1 to S phase transition 2 Enzyme 0.98 0.821 0.154
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846