Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654
CPT2 P23786 carnitine palmitoyltransferase 2 Enzyme 4.6E-10 0.542 0.769
TTR P02766 transthyretin Transporter 0.52 0.423 0.885
ST20-MTHFS ST20-MTHFS readthrough 7.6E-03 0.805 0.115
MTHFS P49914 methenyltetrahydrofolate synthetase Enzyme 2.6E-04 0.678 0.500