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: 85358
Gene Symbol: SHANK3
SHANK3
SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.320 None 1.000 1 0 2006 2015
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
SH3 and multiple ankyrin repeat domains 2 0.663 0.385 8.4E-07
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.310 None 1.000 1 0 2010 2014
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.310 None 1.000 1 0 2009 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 5 0 2001 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 2 0 2010 2010
Entrez Id: 84735
Gene Symbol: CNDP1
CNDP1
carnosine dipeptidase 1 0.656 0.538 1.2E-09
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 2 0 1972 1973
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
SET binding protein 1 0.503 0.808 1.00
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 2 0 2010 2014
Entrez Id: 23152
Gene Symbol: CIC
CIC
capicua transcriptional repressor 0.523 0.692 1.00
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 2 0 2010 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 2 0 2004 2010
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 2 0 2012 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
neurexin 1 0.581 0.692 1.00
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 2 0 2008 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 7432
Gene Symbol: VIP
VIP
vasoactive intestinal peptide 0.437 0.846 4.2E-04
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2001 2001
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2003 2003
Entrez Id: 7054
Gene Symbol: TH
TH
tyrosine hydroxylase 0.462 0.885 1.7E-06
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 65084
Gene Symbol: TMEM135
TMEM135
transmembrane protein 135 0.751 0.346 0.78
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 6873
Gene Symbol: TAF2
TAF2
TATA-box binding protein associated factor 2 0.743 0.308 2.6E-03
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2002 2002
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2001 2001
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
elongator acetyltransferase complex subunit 2 0.716 0.538 4.2E-20
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2011 2011