Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
DDHD domain containing 2 0.713 0.448 1.1E-10
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 5 0 2013 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 3 0 2004 2015
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
glycine decarboxylase 0.672 0.345 5.2E-26
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 2 0 2000 2015
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.633 0.586
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 2 0 2015 2015
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
adenosine monophosphate deaminase 2 0.672 0.379 1.8E-06
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.580 0.379 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX, chromatin remodeler 0.489 0.690 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2016 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.534 0.552 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
diaphanous related formin 1 0.659 0.517 0.98
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
dynamin 1 0.667 0.345 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.596 0.552 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 1801
Gene Symbol: DPH1
DPH1
diphthamide biosynthesis 1 0.663 0.517 1.2E-15
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
cadherin EGF LAG seven-pass G-type receptor 2 0.701 0.414 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2016 2016
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.743 0.310 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2017 2017
Entrez Id: 2581
Gene Symbol: GALC
GALC
galactosylceramidase 0.648 0.448 3.1E-15
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.645 0.483 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2017 2017
Entrez Id: 2917
Gene Symbol: GRM7
GRM7
glutamate metabotropic receptor 7 0.659 0.414 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2017 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 0.642 0.414 3.0E-02
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.713 0.276 0.94
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.557 0.552 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2016 2016
Entrez Id: 6651
Gene Symbol: SON
SON
SON DNA binding protein 0.652 0.552 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2017 2017
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.551 0.448 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.596 0.483 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
TATA-box binding protein associated factor 6 0.762 0.345 6.1E-09
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 1 0 2015 2015