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 3
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 0.100 None 0 0
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 104 0.588 0.577 0.98 0.100 None 0 0
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 50 0.716 0.385 1.5E-16 0.100 None 0 0
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.100 None 0 0
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
Q96EK4 THAP domain containing 11 23 0.769 0.346 0.83 0.100 None 0 1
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.100 None 0 2
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
Q9ULH0 kinase D interacting substrate 220 145 0.534 0.769 7.4E-02 0.100 None 0 0
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: 5913
Gene Symbol: RAPSN
RAPSN
Q13702 receptor associated protein of the synapse 121 0.593 0.731 1.5E-03 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 2
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2
P15735 phosphorylase kinase catalytic subunit gamma 2 Kinase 53 0.674 0.538 3.9E-03 0.100 None 0 0
Entrez Id: 5256
Gene Symbol: PHKA2
PHKA2
P46019 phosphorylase kinase regulatory subunit alpha 2 Kinase 47 0.678 0.462 0.38 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
P38606 ATPase H+ transporting V1 subunit A Transporter 147 0.579 0.615 0.87 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 0 1
Entrez Id: 4556
Gene Symbol: TRNE
TRNE
tRNA 83 0.647 0.692 0.100 None 0 0
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
O15146 muscle associated receptor tyrosine kinase Kinase 146 0.570 0.769 4.2E-08 0.100 None 0 2
Entrez Id: 4618
Gene Symbol: MYF6
MYF6
P23409 myogenic factor 6 Transcription factor 46 0.691 0.423 4.1E-03 0.100 None 0 0
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
P12883 myosin heavy chain 7 257 0.516 0.692 4.2E-16 0.100 None 0 0
Entrez Id: 4841
Gene Symbol: NONO
NONO
Q15233 non-POU domain containing octamer binding Nucleic acid binding 142 0.554 0.731 0.99 0.100 None 0 0
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.100 None 0 0
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
O60890 oligophrenin 1 Enzyme modulator 81 0.633 0.538 1.00 0.100 None 0 1
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
O75914 p21 (RAC1) activated kinase 3 Kinase 134 0.569 0.731 0.99 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR
Q9BV79 mitochondrial trans-2-enoyl-CoA reductase 29 0.736 0.385 2.2E-05 0.100 None 0 1