Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ACOT1 Q86TX2 acyl-CoA thioesterase 1 6.4E-05 0.780 0.192
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATRIP Q8WXE1 ATR interacting protein 2.0E-05 0.666 0.692
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
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
CPT2 P23786 carnitine palmitoyltransferase 2 Enzyme 4.6E-10 0.542 0.769
CTSA P10619 cathepsin A Enzyme 5.9E-09 0.619 0.731
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731