Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615 51 2
PAX6 P26367 paired box 6 1.00 0.450 0.769 25 102
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731 21 69
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692 15 16
SMARCAL1 Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 2.3E-06 0.599 0.654 15 15
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731 11 4
PEX11B O96011 peroxisomal biogenesis factor 11 beta 1.3E-04 0.612 0.654 11 3
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692 8 25
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846 8 19
CRYAB P02511 crystallin alpha B 2.2E-02 0.515 0.731 8 15
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692 8 6
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 6 19
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577 5 15
CRYGC P07315 crystallin gamma C 6.1E-04 0.612 0.577 5 7
ZRANB3 Q5FWF4 zinc finger RANBP2-type containing 3 4.2E-21 0.780 0.577 5 6
GEMIN4 P57678 gem nuclear organelle associated protein 4 5.9E-13 0.565 0.808 4 1
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769 3 16
CRYAA A0A140G945 P02489 crystallin alpha A 0.17 0.653 0.385 3 11
CRYGD P07320 crystallin gamma D 3.0E-04 0.510 0.808 3 9
LIM2 P55344 lens intrinsic membrane protein 2 Cellular structure 6.8E-04 0.716 0.423 3 3
PSMC3 P17980 proteasome 26S subunit, ATPase 3 Enzyme 0.95 0.792 0.423 3 1
GJA3 Q9Y6H8 gap junction protein alpha 3 Cell-cell junction 1.3E-03 0.647 0.346 2 12
MIP P30301 major intrinsic protein of lens fiber Ion channel 3.1E-02 0.507 0.846 2 8
CRYBB2 P43320 crystallin beta B2 0.39 0.623 0.462 2 7