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: 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: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.110 None 1.000 0 1 2013 2013
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: 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: 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: 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: 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: 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: 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: 80208
Gene Symbol: SPG11
SPG11
SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 1.000 1 2 2009 2009
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: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
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: 6884
Gene Symbol: TAF13
TAF13
TATA-box binding protein associated factor 13 0.716 0.385 1.6E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 2
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
transcription factor 20 0.644 0.423 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 2
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
Entrez Id: 7874
Gene Symbol: USP7
USP7
ubiquitin specific peptidase 7 0.538 0.808 1.00
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: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease 0.100 None 0 1
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: 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: 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
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: 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