Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500
BIVM-ERCC5 BIVM-ERCC5 readthrough 1.3E-15 0.736 0.308
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CAMK4 Q16566 calcium/calmodulin dependent protein kinase IV Kinase 0.51 0.621 0.654
CAPN1 P07384 calpain 1 Enzyme 5.9E-10 0.539 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
FIGNL1 Q6PIW4 fidgetin like 1 Cellular structure 1.2E-04 0.805 0.385
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
JMJD8 Q96S16 jumonji domain containing 8 6.1E-14 0.861 0.192
MAPK8IP3 Q9UPT6 mitogen-activated protein kinase 8 interacting protein 3 Enzyme modulator 1.00 0.682 0.462
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
KCNC1 P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 0.99 0.711 0.154
REEP1 Q9H902 receptor accessory protein 1 Transporter 0.99 0.653 0.423
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731