Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731 6
TERC telomerase RNA component 0.471 0.846 5
NEFL P07196 neurofilament light 0.488 0.769 4
NR2E3 Q9Y5X4 nuclear receptor subfamily 2 group E member 3 Nuclear receptor 0.603 0.500 4
IGHM P01871 immunoglobulin heavy constant mu 0.644 0.654 3
H19 H19 imprinted maternally expressed transcript 0.494 0.923 3
MIR17HG Q75NE6 miR-17-92a-1 cluster host gene 0.483 0.808 3
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 3
IGKC P01834 immunoglobulin kappa constant 0.700 0.423 2
SRY Q05066 sex determining region Y Transcription factor 0.456 0.808 2
TRAC P01848 T cell receptor alpha constant Receptor 0.691 0.615 2
FOXI3 A8MTJ6 forkhead box I3 0.805 0.308 2
IRGM A1A4Y4 immunity related GTPase M 0.617 0.538 2
MIR184 microRNA 184 0.542 0.769 2
MIR369 microRNA 369 0.666 0.500 2
KCNJ18 B7U540 potassium inwardly rectifying channel subfamily J member 18 0.722 0.346 2
ATD asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) 0.656 0.731 1
DWS dandy-walker syndrome 0.931 0.077 1
FPR1 P21462 formyl peptide receptor 1 G-protein coupled receptor 0.576 0.769 1
FUT5 Q11128 fucosyltransferase 5 Enzyme 0.760 0.115 1
HPE1 holoprosencephaly 1, alobar 0.890 0.115 1
PRKACG P22612 protein kinase cAMP-activated catalytic subunit gamma Kinase 0.644 0.654 1
PRSS2 P07478 serine protease 2 Enzyme 0.628 0.769 1
SRD5A2 P31213 steroid 5 alpha-reductase 2 Enzyme 0.564 0.615 1