Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769 134
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654 134
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 134
PORCN Q9H237 porcupine O-acyltransferase Enzyme 1.00 0.545 0.692 134
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923 132
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 131
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769 128
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 128
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808 128
JMJD1C Q15652 jumonji domain containing 1C 1.00 0.517 0.769 128
RREB1 Q92766 ras responsive element binding protein 1 1.00 0.500 0.808 128
SEC24C P53992 SEC24 homolog C, COPII coat complex component Transporter 1.00 0.543 0.808 128
UFD1 Q92890 ubiquitin recognition factor in ER associated degradation 1 1.00 0.537 0.769 128
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808 127
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769 127
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692 126
GPC3 P51654 glypican 3 1.00 0.466 0.808 126
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731 123
FANCE Q9HB96 FA complementation group E 1.5E-06 0.553 0.808 122
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731 122
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731 121
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808 121
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885 121
TREM2 Q9NZC2 triggering receptor expressed on myeloid cells 2 3.3E-09 0.519 0.769 121