Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
SOD1 P00441 superoxide dismutase 1 Enzyme 0.18 0.379 0.962 31
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885 58
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846 205
PON1 P27169 paraoxonase 1 9.8E-11 0.409 0.885 24
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 169
APP P05067 amyloid beta precursor protein Enzyme modulator 4.7E-02 0.422 0.846 53
SNCA P37840 synuclein alpha Transporter 0.88 0.427 0.885 77
SQSTM1 Q13501 sequestosome 1 8.6E-04 0.428 0.885 124
PRKN O60260 parkin RBR E3 ubiquitin protein ligase Enzyme 6.9E-07 0.431 0.846 46
GRN P28799 granulin precursor 7.0E-02 0.435 0.846 81
PPARGC1A Q9UBK2 PPARG coactivator 1 alpha Transcription factor 1.00 0.453 0.885 24
ERBB4 Q15303 erb-b2 receptor tyrosine kinase 4 Kinase 1.00 0.455 0.846 26
HNF4A P41235 hepatocyte nuclear factor 4 alpha Nuclear receptor 0.15 0.461 0.808 93
VCP P55072 valosin containing protein 1.00 0.469 0.923 193
PSEN1 P49768 presenilin 1 Enzyme 0.97 0.469 0.846 114
FUS P35637 FUS RNA binding protein Nucleic acid binding 1.00 0.470 0.846 71
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846 108
HNF1A P20823 HNF1 homeobox A Nucleic acid binding 0.96 0.478 0.846 60
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808 91
UCHL1 P09936 ubiquitin C-terminal hydrolase L1 Enzyme 0.99 0.482 0.885 57
TSHR P16473 thyroid stimulating hormone receptor G-protein coupled receptor 3.0E-15 0.486 0.808 53
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 118
TARDBP Q13148 TAR DNA binding protein 0.99 0.493 0.808 60
UCP2 P55851 uncoupling protein 2 Transporter 1.5E-10 0.493 0.808 23