Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
GPR88 Q9GZN0 G protein-coupled receptor 88 G-protein coupled receptor 0.75 0.805 0.115 5
TSEN15 Q8WW01 tRNA splicing endonuclease subunit 15 0.28 0.769 0.115 4
USP45 Q70EL2 ubiquitin specific peptidase 45 Enzyme 1.4E-17 0.792 0.154 22
VWA3B Q502W6 von Willebrand factor A domain containing 3B 9.7E-28 0.729 0.154 15
MRPS2 Q9Y399 mitochondrial ribosomal protein S2 Nucleic acid binding 3.1E-07 0.839 0.154 9
SLC36A2 Q495M3 solute carrier family 36 member 2 Transporter 6.2E-10 0.861 0.154 6
BCKDK O14874 branched chain keto acid dehydrogenase kinase Kinase 5.7E-05 0.769 0.154 3
PMPCB O75439 peptidase, mitochondrial processing subunit beta Enzyme 4.5E-08 0.769 0.192 16
KPTN Q9Y664 kaptin, actin binding protein 1.1E-05 0.769 0.192 14
KLHL15 Q96M94 kelch like family member 15 0.99 0.805 0.192 13
EPB41L1 Q9H4G0 erythrocyte membrane protein band 4.1 like 1 0.88 0.839 0.192 2
FRRS1L Q9P0K9 ferric chelate reductase 1 like 1.5E-03 0.666 0.231 51
LINS1 Q8NG48 lines homolog 1 2.4E-07 0.691 0.231 44
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231 43
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231 42
MOCS1 Q9NZB8 molybdenum cofactor synthesis 1 9.1E-07 0.743 0.231 42
TMEM240 Q5SV17 transmembrane protein 240 0.23 0.760 0.231 31
KY Q8NBH2 kyphoscoliosis peptidase 1.5E-10 0.736 0.231 30
PLPBP O94903 pyridoxal phosphate binding protein 4.0E-02 0.736 0.231 21
ALDH4A1 P30038 aldehyde dehydrogenase 4 family member A1 1.4E-05 0.792 0.231 6
TMLHE Q9NVH6 trimethyllysine hydroxylase, epsilon 8.0E-05 0.821 0.231 4
ZNF408 Q9H9D4 zinc finger protein 408 1.2E-06 0.678 0.269 36
PDE6A P16499 phosphodiesterase 6A 6.6E-25 0.691 0.269 31
PRCD Q00LT1 photoreceptor disc component 1.6E-02 0.700 0.269 31