Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
RAB3GAP2 Q9H2M9 RAB3 GTPase activating non-catalytic protein subunit 2 Enzyme modulator 0.99 0.584 0.769 114
GCK P35557 glucokinase Kinase 0.63 0.523 0.808 83
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808 82
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846 81
ERLIN2 O94905 ER lipid raft associated 2 6.7E-04 0.647 0.500 64
C19orf12 Q9NSK7 chromosome 19 open reading frame 12 0.34 0.641 0.615 59
STUB1 Q9UNE7 STIP1 homology and U-box containing protein 1 1.9E-02 0.544 0.692 58
TSHR P16473 thyroid stimulating hormone receptor G-protein coupled receptor 3.0E-15 0.486 0.808 53
ZFYVE26 Q68DK2 zinc finger FYVE-type containing 26 4.7E-23 0.636 0.615 48
CTNND2 Q9UQB3 catenin delta 2 Cellular structure 1.00 0.579 0.731 36
NOP56 O00567 NOP56 ribonucleoprotein Nucleic acid binding 0.62 0.663 0.538 35
MARS1 P56192 methionyl-tRNA synthetase 1 2.1E-15 0.638 0.654 31
FGF14 Q92915 fibroblast growth factor 14 Signaling 0.91 0.619 0.692 28
ABCB6 Q9NP58 ATP binding cassette subfamily B member 6 (Langereis blood group) Transporter 8.6E-19 0.431 0.885 23
PDK3 Q15120 pyruvate dehydrogenase kinase 3 Kinase 0.45 0.678 0.500 23
SMN1 Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 1.6E-02 0.454 0.769 22
ADRA2B P18089 adrenoceptor alpha 2B G-protein coupled receptor 4.5E-06 0.465 0.846 17
SAMD12 Q8N8I0 sterile alpha motif domain containing 12 1.2E-03 0.700 0.269 17
CNTN2 Q02246 contactin 2 Receptor 2.1E-03 0.581 0.692 11
ANO3 Q9BYT9 anoctamin 3 1.2E-17 0.716 0.385 10
SMN2 Q16637 survival of motor neuron 2, centromeric 0.10 0.459 0.769 10
ZFR Q96KR1 zinc finger RNA binding protein Nucleic acid binding 1.00 0.729 0.346 10
DRD3 P35462 dopamine receptor D3 G-protein coupled receptor 2.4E-03 0.529 0.692 8