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: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 0
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.100 None 0 0
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 284 0.479 0.808 1.00 0.100 None 0 0
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.100 None 0 1
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.100 None 0 0
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
Q06413 myocyte enhancer factor 2C Transcription factor 206 0.517 0.769 1.7E-02 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1
P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 260 0.522 0.769 0.100 None 0 0
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: 22827
Gene Symbol: PUF60
PUF60
Q9UHX1 poly(U) binding splicing factor 60 188 0.536 0.769 1.00 0.100 None 0 0
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Q8NFG4 folliculin 160 0.537 0.885 0.79 0.100 None 0 0
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
P53007 solute carrier family 25 member 1 Transporter 168 0.553 0.731 5.9E-02 0.100 None 0 0
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13
Q9P0J0 NADH:ubiquinone oxidoreductase subunit A13 Enzyme 131 0.556 0.692 3.8E-06 0.100 None 0 0
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
Q9UJ55 MAGE family member L2 Cell adhesion 184 0.560 0.654 0.98 0.100 None 0 1
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 150 0.561 0.692 0.98 0.100 None 0 0
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3
P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 127 0.566 0.692 1.00 0.100 None 0 0
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
Q9NX14 NADH:ubiquinone oxidoreductase subunit B11 Enzyme 149 0.566 0.692 0.80 0.100 None 0 0
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.100 None 0 0
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
O75251 NADH:ubiquinone oxidoreductase core subunit S7 120 0.579 0.769 0.91 0.100 None 0 0
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
O75489 NADH:ubiquinone oxidoreductase core subunit S3 120 0.581 0.769 5.8E-04 0.100 None 0 0
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 0
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
P12109 collagen type VI alpha 1 chain Receptor 164 0.587 0.731 1.00 0.100 None 0 1
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.100 None 0 0
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
O43181 NADH:ubiquinone oxidoreductase subunit S4 137 0.587 0.808 3.1E-04 0.100 None 0 0