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: 23259
Gene Symbol: DDHD2
DDHD2
O94830 DDHD domain containing 2 hydrolase; membrane traffic protein 33 0.713 0.448 1.1E-10 0.100 5 1 2013 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit nucleic acid binding; transferase 348 0.477 0.724 1.3E-09 0.100 3 1 2004 2015
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
P23378 glycine decarboxylase oxidoreductase 55 0.672 0.345 5.2E-26 0.100 2 1 2000 2015
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
Q9H799 ciliogenesis and planar polarity effector 1 80 0.633 0.586 0.100 2 4 2015 2015
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
Q01433 adenosine monophosphate deaminase 2 hydrolase 63 0.672 0.379 1.8E-06 0.100 1 1 2015 2015
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
P13637 ATPase Na+/K+ transporting subunit alpha 3 122 0.580 0.379 1.00 0.100 1 1 2015 2015
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX, chromatin remodeler 283 0.489 0.690 1.00 0.100 1 2 2016 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A 177 0.534 0.552 1.00 0.100 1 1 2015 2015
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
O60610 diaphanous related formin 1 45 0.659 0.517 0.98 0.100 1 1 2015 2015
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
Q05193 dynamin 1 cytoskeletal protein; enzyme modulator; hydrolase 64 0.667 0.345 1.00 0.100 1 1 2015 2015
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Q14204 dynein cytoplasmic 1 heavy chain 1 cytoskeletal protein; hydrolase 103 0.596 0.552 1.00 0.100 1 2 2015 2015
Entrez Id: 1801
Gene Symbol: DPH1
DPH1
Q9BZG8 diphthamide biosynthesis 1 56 0.663 0.517 1.2E-15 0.100 1 1 2015 2015
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
Q9HCU4 cadherin EGF LAG seven-pass G-type receptor 2 cell adhesion molecule; hydrolase; protease; receptor 27 0.701 0.414 1.00 0.100 1 1 2016 2016
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
Q12830 bromodomain PHD finger transcription factor 26 0.743 0.310 1.00 0.100 1 2 2017 2017
Entrez Id: 2581
Gene Symbol: GALC
GALC
P54803 galactosylceramidase 80 0.648 0.448 3.1E-15 0.100 1 2 2015 2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
P62873 G protein subunit beta 1 enzyme modulator; hydrolase 62 0.645 0.483 1.00 0.100 1 8 2017 2017
Entrez Id: 2917
Gene Symbol: GRM7
GRM7
Q14831 glutamate metabotropic receptor 7 receptor 44 0.659 0.414 1.00 0.100 1 3 2017 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 nucleic acid binding; transferase 403 0.463 0.862 0.78 0.100 1 1 2015 2015
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2
Q10469 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase transferase 97 0.642 0.414 3.0E-02 0.100 1 1 2015 2015
Entrez Id: 5813
Gene Symbol: PURA
PURA
Q00577 purine rich element binding protein A nucleic acid binding; transcription factor 46 0.713 0.276 0.94 0.100 1 11 2015 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 transporter 168 0.557 0.552 1.00 0.100 1 1 2016 2016
Entrez Id: 6651
Gene Symbol: SON
SON
P18583 SON DNA binding protein 78 0.652 0.552 1.00 0.100 1 5 2017 2017
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 kinase; transferase 170 0.551 0.448 1.00 0.100 1 1 2015 2015
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
P61764 syntaxin binding protein 1 membrane traffic protein; transporter 120 0.596 0.483 1.00 0.100 1 1 2015 2015
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
P49848 TATA-box binding protein associated factor 6 transcription factor 42 0.762 0.345 6.1E-09 0.100 1 1 2015 2015