Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846 205
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 202
VCP P55072 valosin containing protein 1.00 0.469 0.923 193
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 169
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731 162
SQSTM1 Q13501 sequestosome 1 8.6E-04 0.428 0.885 124
TREM2 Q9NZC2 triggering receptor expressed on myeloid cells 2 3.3E-09 0.519 0.769 121
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 118
C9orf72 Q96LT7 C9orf72-SMCR8 complex subunit 1.1E-06 0.496 0.769 115
PSEN1 P49768 presenilin 1 Enzyme 0.97 0.469 0.846 114
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846 108
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615 101
CHMP2B Q9UQN3 charged multivesicular body protein 2B 4.6E-06 0.543 0.731 98
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615 95
HNF4A P41235 hepatocyte nuclear factor 4 alpha Nuclear receptor 0.15 0.461 0.808 93
NEK1 Q96PY6 NIMA related kinase 1 Kinase 1.9E-25 0.575 0.769 92
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808 91
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577 83
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462 82
GRN P28799 granulin precursor 7.0E-02 0.435 0.846 81
SNCA P37840 synuclein alpha Transporter 0.88 0.427 0.885 77
HNRNPA1 P09651 heterogeneous nuclear ribonucleoprotein A1 1.00 0.529 0.885 72
ADA2 Q9NZK5 adenosine deaminase 2 Enzyme 8.1E-08 0.545 0.846 71
FUS P35637 FUS RNA binding protein Nucleic acid binding 1.00 0.470 0.846 71