Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KCNC1 P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 0.99 0.711 0.154
JMJD8 Q96S16 jumonji domain containing 8 6.1E-14 0.861 0.192
BIVM-ERCC5 BIVM-ERCC5 readthrough 1.3E-15 0.736 0.308
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385
FIGNL1 Q6PIW4 fidgetin like 1 Cellular structure 1.2E-04 0.805 0.385
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
REEP1 Q9H902 receptor accessory protein 1 Transporter 0.99 0.653 0.423
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
MAPK8IP3 Q9UPT6 mitogen-activated protein kinase 8 interacting protein 3 Enzyme modulator 1.00 0.682 0.462
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
CAMK4 Q16566 calcium/calmodulin dependent protein kinase IV Kinase 0.51 0.621 0.654
STUB1 Q9UNE7 STIP1 homology and U-box containing protein 1 1.9E-02 0.544 0.692
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769