Source: GENOMICS_ENGLAND

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731 21
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769 7
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538 7
PIBF1 Q8WXW3 progesterone immunomodulatory binding factor 1 1.9E-11 0.670 0.462 6
DIAPH1 O60610 diaphanous related formin 1 0.92 0.623 0.654 6
NBAS A2RRP1 NBAS subunit of NRZ tethering complex 5.0E-43 0.566 0.692 6
SPTBN2 O15020 spectrin beta, non-erythrocytic 2 9.9E-05 0.619 0.731 6
TBC1D20 Q96BZ9 TBC1 domain family member 20 0.93 0.621 0.500 5
VPS53 Q5VIR6 VPS53 subunit of GARP complex 1.4E-07 0.659 0.654 5
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654 4
TKFC Q3LXA3 triokinase and FMN cyclase 3.2E-12 0.839 0.192 4
UBTF P17480 upstream binding transcription factor 1.00 0.705 0.462 4
ALKBH8 Q96BT7 alkB homolog 8, tRNA methyltransferase 2.0E-04 0.716 0.423 4
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423 3
DEGS1 O15121 delta 4-desaturase, sphingolipid 1 0.14 0.621 0.731 3
ACTL6A O96019 actin like 6A Cellular structure 1.00 0.678 0.346 3
PNPT1 Q8TCS8 polyribonucleotide nucleotidyltransferase 1 Enzyme 4.0E-04 0.653 0.462 7
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577 6
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731 5
STT3B Q8TCJ2 STT3 oligosaccharyltransferase complex catalytic subunit B Enzyme 1.00 0.760 0.385 4
STT3A P46977 STT3 oligosaccharyltransferase complex catalytic subunit A Enzyme 2.0E-03 0.670 0.577 4
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538 3
TRAPPC12 Q8WVT3 trafficking protein particle complex 12 Enzyme 5.4E-16 0.751 0.385 3
TRIT1 Q9H3H1 tRNA isopentenyltransferase 1 Enzyme 4.1E-11 0.621 0.692 3