Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARL14EP Q8N8R7 ADP ribosylation factor like GTPase 14 effector protein 0.38 0.861 0.192
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577
MGAT2 Q10469 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Enzyme 3.4E-02 0.650 0.577
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
CELSR2 Q9HCU4 cadherin EGF LAG seven-pass G-type receptor 2 G-protein coupled receptor 1.00 0.656 0.577
CACNA1G O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 1.00 0.590 0.577
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
CDK8 P49336 cyclin dependent kinase 8 Kinase 0.41 0.597 0.654
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577