Source: CTD_human

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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 2 0 1972 1973
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 1 0 1989 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 0.989 2 0 1992 2020
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 None 1.000 1 0 1992 2011
Entrez Id: 4163
Gene Symbol: MCC
MCC
MCC regulator of WNT signaling pathway 0.568 0.731 4.7E-16
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 1994 1994
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 1 0 1994 2018
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 1994 2001
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 strong 1.000 1 0 1996 2005
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 1998 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 0.963 2 0 2000 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 None 1.000 5 0 2001 2019
Entrez Id: 796
Gene Symbol: CALCA
CALCA
calcitonin related polypeptide alpha 0.416 0.923 1.6E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2001 2004
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.510 strong 1.000 1 0 2002 2019
Entrez Id: 9901
Gene Symbol: SRGAP3
SRGAP3
SLIT-ROBO Rho GTPase activating protein 3 0.711 0.346 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.390 None 1.000 1 0 2002 2018
Entrez Id: 10752
Gene Symbol: CHL1
CHL1
cell adhesion molecule L1 like 0.603 0.654 8.9E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.320 None 1.000 1 0 2003 2013
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.440 None 1.000 1 0 2003 2019
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.600 None 1.000 1 0 2003 2019
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.320 None 1.000 1 0 2004 2019
Entrez Id: 26128
Gene Symbol: KIFBP
KIFBP
kinesin family binding protein 0.615 0.731 7.6E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2005 2005
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.670 strong 1.000 1 0 2006 2019
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 None 1.000 1 0 2006 2011
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 1 0 2006 2019