Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
CRYAA A0A140G945 P02489 crystallin alpha A 0.17 0.653 0.385
CRYAB P02511 crystallin alpha B 2.2E-02 0.515 0.731
CRYBB1 P53674 crystallin beta B1 7.0E-04 0.686 0.231
CRYBB2 P43320 crystallin beta B2 0.39 0.623 0.462
CRYBB3 P26998 crystallin beta B3 3.6E-11 0.769 0.269
CRYGA P11844 crystallin gamma A 4.3E-10 0.805 0.269
CRYGC P07315 crystallin gamma C 6.1E-04 0.612 0.577
CRYGD P07320 crystallin gamma D 3.0E-04 0.510 0.808
CRYGS P22914 crystallin gamma S 2.3E-02 0.743 0.192
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731
GJA3 Q9Y6H8 gap junction protein alpha 3 Cell-cell junction 1.3E-03 0.647 0.346
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
GEMIN4 P57678 gem nuclear organelle associated protein 4 5.9E-13 0.565 0.808
GCNT2 Q8N0V5 glucosaminyl (N-acetyl) transferase 2 (I blood group) 2.4E-05 0.650 0.538
LIM2 P55344 lens intrinsic membrane protein 2 Cellular structure 6.8E-04 0.716 0.423
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769
MIP P30301 major intrinsic protein of lens fiber Ion channel 3.1E-02 0.507 0.846
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
NECTIN3 Q9NQS3 nectin cell adhesion molecule 3 0.92 0.729 0.500
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
PAX6 P26367 paired box 6 1.00 0.450 0.769
PEX11B O96011 peroxisomal biogenesis factor 11 beta 1.3E-04 0.612 0.654
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692