Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 167
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808 139
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808 129
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731 95
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808 93
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 92
USB1 Q9BQ65 U6 snRNA biogenesis phosphodiesterase 1 6.9E-04 0.636 0.577 73
TNFRSF11A Q9Y6Q6 TNF receptor superfamily member 11a 8.8E-03 0.480 0.846 65
PGM3 O95394 phosphoglucomutase 3 1.5E-05 0.610 0.769 64
CFAP410 O43822 cilia and flagella associated protein 410 3.3E-07 0.633 0.615 54
RNF168 Q8IYW5 ring finger protein 168 2.1E-13 0.653 0.731 46
POLA1 P09884 DNA polymerase alpha 1, catalytic subunit 1.00 0.653 0.731 43
CYBA P13498 cytochrome b-245 alpha chain 8.9E-06 0.520 0.769 42
CCDC114 Q96M63 coiled-coil domain containing 114 6.6E-09 0.674 0.500 42
NCF1 P14598 neutrophil cytosolic factor 1 2.8E-05 0.521 0.808 41
GAS8 O95995 growth arrest specific 8 1.1E-12 0.636 0.654 39
IGHM P01871 immunoglobulin heavy constant mu 0.644 0.654 39
TNFRSF13B O14836 TNF receptor superfamily member 13B 2.1E-15 0.558 0.769 38
CR2 P20023 complement C3d receptor 2 4.7E-19 0.556 0.654 37
ICOS Q9Y6W8 inducible T cell costimulator 3.1E-02 0.502 0.731 36
TNFRSF13C Q96RJ3 TNF receptor superfamily member 13C 0.27 0.540 0.731 35
CD19 P15391 CD19 molecule 0.90 0.430 0.885 35
IGLL1 P15814 immunoglobulin lambda like polypeptide 1 1.4E-02 0.678 0.538 34
P4HTM Q9NXG6 prolyl 4-hydroxylase, transmembrane 3.9E-09 0.666 0.500 30