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: 361
Gene Symbol: AQP4
AQP4
aquaporin 4 0.456 0.885 2.3E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 147429
Gene Symbol: AQP4-AS1
AQP4-AS1
AQP4 antisense RNA 1 0.751 0.577
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 1.000 1 2 2015 2015
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
calpain 3 0.564 0.615 3.6E-19
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
cathepsin A 0.619 0.731 5.9E-09
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 1.000 3 2 1996 2014
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 0.551 0.885 2.8E-15
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
glycine receptor alpha 1 0.628 0.500 1.6E-04
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.110 None 1.000 0 1 2012 2012
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 220296
Gene Symbol: HEPACAM
HEPACAM
hepatic and glial cell adhesion molecule 0.621 0.500 0.87
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 2
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
IQ motif and Sec7 domain ArfGEF 2 0.573 0.577 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
interleukin 1 receptor associated kinase 1 binding protein 1 0.780 0.346 1.4E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 4
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
potassium calcium-activated channel subfamily M alpha 1 0.518 0.846 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
KCNMA1 antisense RNA 1 0.705 0.654
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 402569
Gene Symbol: KPNA7
KPNA7
karyopherin subunit alpha 7 0.805 0.308 3.4E-15
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.110 None < 0.001 0 1 2007 2007
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 8