Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615
PAX6 P26367 paired box 6 1.00 0.450 0.769
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
MPDU1 O75352 mannose-P-dolichol utilization defect 1 1.0E-05 0.682 0.500
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462
RPGRIP1 Q96KN7 RPGR interacting protein 1 Enzyme modulator 1.3E-23 0.553 0.654
ELP4 Q96EB1 elongator acetyltransferase complex subunit 4 1.2E-07 0.666 0.462