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
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923 119
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731 95
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962 95
TK2 O00142 thymidine kinase 2 Kinase 3.9E-07 0.585 0.615 94
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
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885 86
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808 80
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808 79
TBCD Q9BTW9 tubulin folding cofactor D Cellular structure 1.0E-07 0.599 0.615 73
USB1 Q9BQ65 U6 snRNA biogenesis phosphodiesterase 1 6.9E-04 0.636 0.577 73
ORC6 Q9Y5N6 origin recognition complex subunit 6 Nucleic acid binding 3.4E-07 0.628 0.577 70
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
ADA P00813 adenosine deaminase Enzyme 2.9E-12 0.440 0.885 59
BTK Q06187 Bruton tyrosine kinase Kinase 1.00 0.464 0.808 59
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731 57
NFKB2 Q00653 nuclear factor kappa B subunit 2 Transcription factor 1.00 0.509 0.808 56
CFAP410 O43822 cilia and flagella associated protein 410 3.3E-07 0.633 0.615 54
PEPD P12955 peptidase D Enzyme 1.5E-14 0.621 0.769 54
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962 53