Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 167 0.538 0.731 5.3E-19 0.100 None 0 0
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 1
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
Q08209 protein phosphatase 3 catalytic subunit alpha 149 0.568 0.769 1.00 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA
Q00577 purine rich element binding protein A Nucleic acid binding 83 0.644 0.500 0.94 0.100 None 0 1
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.100 None 0 0
Entrez Id: 7874
Gene Symbol: USP7
USP7
Q93009 ubiquitin specific peptidase 7 Enzyme 153 0.538 0.808 1.00 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
Q8TEA7 TBC1 domain containing kinase Kinase 85 0.650 0.654 2.1E-15 0.100 None 0 1