Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FOLR1 P15328 folate receptor alpha 0.13 0.522 0.885 4
TMLHE Q9NVH6 trimethyllysine hydroxylase, epsilon 8.0E-05 0.821 0.231 4
CIC Q96RK0 capicua transcriptional repressor 1.00 0.523 0.692 7
KCNT2 Q6UVM3 potassium sodium-activated channel subfamily T member 2 4.2E-02 0.711 0.308 8
CNPY3 Q9BT09 canopy FGF signaling regulator 3 0.40 0.805 0.269 9
SLC2A3 P11169 solute carrier family 2 member 3 Transporter 1.0E-02 0.534 0.769 9
TRAPPC2L Q9UL33 trafficking protein particle complex 2 like 3.7E-11 0.805 0.269 9
GABRB1 P18505 gamma-aminobutyric acid type A receptor subunit beta1 Ion channel 0.98 0.686 0.500 10
GFAP P14136 glial fibrillary acidic protein 1.5E-06 0.421 0.885 10
SLC25A42 Q86VD7 solute carrier family 25 member 42 Transporter 0.49 0.760 0.269 10
GUF1 Q8N442 GUF1 homolog, GTPase Enzyme 5.3E-18 0.805 0.154 12
PLCB1 Q9NQ66 phospholipase C beta 1 Enzyme 0.98 0.595 0.654 12
ISCA1 Q9BUE6 iron-sulfur cluster assembly 1 0.17 0.792 0.231 13
ARHGEF9 O43307 Cdc42 guanine nucleotide exchange factor 9 Enzyme modulator 1.00 0.691 0.385 14
CLN5 O75503 CLN5 intracellular trafficking protein 1.7E-08 0.705 0.269 14
GFM2 Q969S9 G elongation factor mitochondrial 2 Enzyme 1.5E-18 0.736 0.269 15
SLC12A5 Q9H2X9 solute carrier family 12 member 5 Transporter 1.00 0.570 0.654 15
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538 16
CAD P27708 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Enzyme 1.00 0.482 0.846 16
PMPCB O75439 peptidase, mitochondrial processing subunit beta Enzyme 4.5E-08 0.769 0.192 16
ADPRS Q9NX46 ADP-ribosylserine hydrolase 5.8E-04 0.743 0.308 18
KCNT1 Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 2.8E-05 0.610 0.308 18
SLC30A9 Q6PML9 solute carrier family 30 member 9 Transporter 4.7E-07 0.736 0.385 18
TUFM P49411 Tu translation elongation factor, mitochondrial Enzyme 4.2E-03 0.678 0.615 18