Disease: Familial (FPAH)
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TMEM230 Q96A57 transmembrane protein 230 1.8E-04 0.769 0.115
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231
TUBA4A P68366 tubulin alpha 4a Cellular structure 0.16 0.751 0.269
GIGYF2 Q6Y7W6 GRB10 interacting GYF protein 2 1.00 0.711 0.269
NAGPA Q9UK23 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 3.0E-12 0.792 0.269
PANK1 Q8TE04 pantothenate kinase 1 Kinase 2.7E-03 0.743 0.308
LINGO1 Q96FE5 leucine rich repeat and Ig domain containing 1 Receptor 0.99 0.682 0.385
VAPB O95292 VAMP associated protein B and C Transporter 0.58 0.666 0.423
SNCAIP Q9Y6H5 synuclein alpha interacting protein 3.3E-04 0.691 0.423
INF2 Q27J81 inverted formin, FH2 and WH2 domain containing 0.97 0.644 0.423
REEP1 Q9H902 receptor accessory protein 1 Transporter 0.99 0.653 0.423
KCNC3 Q14003 potassium voltage-gated channel subfamily C member 3 Ion channel 0.21 0.705 0.462
SERPINI1 Q99574 serpin family I member 1 Enzyme modulator 2.7E-02 0.631 0.462
UBQLN2 Q9UHD9 ubiquilin 2 0.85 0.656 0.462
NIPA1 Q7RTP0 NIPA magnesium transporter 1 Transporter 5.9E-03 0.682 0.462
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462
DCTN1 Q14203 dynactin subunit 1 Chaperone 8.4E-02 0.597 0.500
MYOC Q99972 myocilin Cellular structure 7.6E-12 0.595 0.500
TAF15 Q92804 TATA-box binding protein associated factor 15 Nucleic acid binding 0.17 0.626 0.500
PDE8B O95263 phosphodiesterase 8B 1.00 0.638 0.500
VPS35 Q96QK1 VPS35 retromer complex component Transporter 0.97 0.656 0.500
OGDH Q02218 oxoglutarate dehydrogenase 1.00 0.653 0.538
SNURF P63162 Q9Y675 SNRPN upstream reading frame 0.46 0.623 0.538
CHCHD2 Q9Y6H1 coiled-coil-helix-coiled-coil-helix domain containing 2 1.7E-07 0.638 0.538
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538