Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
FIGNL1 Q6PIW4 fidgetin like 1 Cellular structure 1.2E-04 0.805 0.385
NPHS1 O60500 NPHS1 adhesion molecule, nephrin 2.5E-14 0.597 0.615
NMNAT1 Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 3.5E-02 0.656 0.269
WNT2B Q93097 Wnt family member 2B Signaling 3.8E-02 0.644 0.615
TMPRSS15 P98073 transmembrane serine protease 15 4.6E-32 0.751 0.385