Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 187
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577 78
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808 158
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808 113
COL17A1 Q9UMD9 collagen type XVII alpha 1 chain 2.3E-27 0.545 0.769 46
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846 111
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885 46
EPB41L4A Q9HCS5 erythrocyte membrane protein band 4.1 like 4A 3.5E-21 0.890 0.231 5
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654 67
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808 61
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577 34
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769 148
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615 72
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615 61
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885 107
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654 110
CRAT P43155 carnitine O-acetyltransferase Enzyme 9.5E-12 0.656 0.577 23
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423 50
PMPCA Q10713 peptidase, mitochondrial processing subunit alpha Enzyme 3.4E-11 0.633 0.577 51
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577 98
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423 59
ISCA2 Q86U28 iron-sulfur cluster assembly 2 2.4E-08 0.743 0.231 20
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577 74
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692 97