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: 84735
Gene Symbol: CNDP1
CNDP1
carnosine dipeptidase 1 0.656 0.538 1.2E-09
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 2 0 1972 1973
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 1994 1994
Entrez Id: 4163
Gene Symbol: MCC
MCC
MCC regulator of WNT signaling pathway 0.568 0.731 4.7E-16
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 1994 1994
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 5 0 2001 2009
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2001 2001
Entrez Id: 4909
Gene Symbol: NTF4
NTF4
neurotrophin 4 0.644 0.692 1.2E-02
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2001 2001
Entrez Id: 796
Gene Symbol: CALCA
CALCA
calcitonin related polypeptide alpha 0.416 0.923 1.6E-02
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2001 2001
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2001 2001
Entrez Id: 7432
Gene Symbol: VIP
VIP
vasoactive intestinal peptide 0.437 0.846 4.2E-04
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2001 2001
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2002 2002
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2003 2003
Entrez Id: 10752
Gene Symbol: CHL1
CHL1
cell adhesion molecule L1 like 0.603 0.654 8.9E-12
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2003 2003
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 2 0 2004 2010
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 26128
Gene Symbol: KIFBP
KIFBP
kinesin family binding protein 0.615 0.731 7.6E-02
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2005 2005
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2005 2005
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2006 2006
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2006 2006
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2006 2006
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2007 2007
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
neurexin 1 0.581 0.692 1.00
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 2 0 2008 2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2008 2008
Entrez Id: 57282
Gene Symbol: SLC4A10
SLC4A10
solute carrier family 4 member 10 0.678 0.269 0.13
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2008 2008
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54
tRNA splicing endonuclease subunit 54 0.659 0.500 1.8E-07
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2008 2008
Entrez Id: 80746
Gene Symbol: TSEN2
TSEN2
tRNA splicing endonuclease subunit 2 0.705 0.423 1.0E-11
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2008 2008