Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
WDR19 Q8NEZ3 WD repeat domain 19 4.6E-11 0.554 0.769
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
PAX6 P26367 paired box 6 1.00 0.450 0.769
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
MTFMT Q96DP5 mitochondrial methionyl-tRNA formyltransferase Enzyme 1.5E-07 0.595 0.808
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
FIGNL1 Q6PIW4 fidgetin like 1 Cellular structure 1.2E-04 0.805 0.385
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500