Source: ALL

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MIR221 microRNA 221 0.449 0.846 304 2
GAS5 growth arrest specific 5 0.497 0.808 184 5
DIRAS3 O95661 DIRAS family GTPase 3 Enzyme modulator 0.631 0.385 52 0
PDA1 Patent ductus arteriosus, susceptibility to 0.890 0.077 4 0
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885 476 673
LAMA3 Q16787 laminin subunit alpha 3 Enzyme modulator 8.8E-46 0.576 0.731 110 86
EVC2 Q86UK5 EvC ciliary complex subunit 2 1.0E-34 0.585 0.692 106 75
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 747 2600
COL17A1 Q9UMD9 collagen type XVII alpha 1 chain 2.3E-27 0.545 0.769 138 28
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 215 87
RMDN2 Q96LZ7 regulator of microtubule dynamics 2 4.4E-24 0.531 0.769 137 6
OTOP1 Q7RTM1 otopetrin 1 Ion channel 4.8E-24 1.000 1 0
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885 194 174
MUTYH Q9UIF7 mutY DNA glycosylase Enzyme 1.3E-18 0.521 0.769 156 174
MMP1 P03956 matrix metallopeptidase 1 Enzyme 7.7E-18 0.385 0.885 589 19
MMP13 P45452 matrix metallopeptidase 13 Enzyme 7.9E-18 0.452 0.923 328 14
MMP9 P14780 matrix metallopeptidase 9 Enzyme 1.9E-17 0.305 0.923 1337 31
MMP20 O60882 matrix metallopeptidase 20 Enzyme 6.1E-14 0.663 0.538 40 9
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808 431 63
TTF1 Q15361 transcription termination factor 1 6.2E-13 0.537 0.500 134 2
NSUN5 Q96P11 NOP2/Sun RNA methyltransferase 5 8.2E-13 0.663 0.423 40 0
FSHR P23945 follicle stimulating hormone receptor G-protein coupled receptor 1.4E-11 0.539 0.654 158 31
CYP26A1 O43174 cytochrome P450 family 26 subfamily A member 1 Enzyme 8.4E-11 0.619 0.577 59 1
TCL1A P56279 T cell leukemia/lymphoma 1A 5.7E-10 0.558 0.500 106 2