Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
BIVM-ERCC5 BIVM-ERCC5 readthrough 1.3E-15 0.736 0.308
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
STUB1 Q9UNE7 STIP1 homology and U-box containing protein 1 1.9E-02 0.544 0.692
JMJD8 Q96S16 jumonji domain containing 8 6.1E-14 0.861 0.192
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615
FIGNL1 Q6PIW4 fidgetin like 1 Cellular structure 1.2E-04 0.805 0.385
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
CAPN1 P07384 calpain 1 Enzyme 5.9E-10 0.539 0.808
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
MAPK8IP3 Q9UPT6 mitogen-activated protein kinase 8 interacting protein 3 Enzyme modulator 1.00 0.682 0.462
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769