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
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
SLC20A2 Q08357 solute carrier family 20 member 2 Transporter 0.97 0.638 0.577
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
PKHD1 P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 1.2E-47 0.576 0.654
TXNDC15 Q96J42 thioredoxin domain containing 15 9.6E-03 0.736 0.615
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538
GCDH Q92947 glutaryl-CoA dehydrogenase 4.9E-03 0.691 0.385