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: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.110 None < 0.001 1 0 2004 2004
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.682 0.462 2.0E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.010 None 1.000 1 0 2005 2005
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2000 2000
Entrez Id: 9200
Gene Symbol: HACD1
HACD1
3-hydroxyacyl-CoA dehydratase 1 0.539 0.846 1.3E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 2531
Gene Symbol: KDSR
KDSR
3-ketodihydrosphingosine reductase 0.674 0.538 0.12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.010 None 1.000 1 0 2013 2013
Entrez Id: 22978
Gene Symbol: NT5C2
NT5C2
5'-nucleotidase, cytosolic II 0.537 0.846 2.1E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2009 2009
Entrez Id: 471
Gene Symbol: ATIC
ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.576 0.731 3.0E-19
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 3350
Gene Symbol: HTR1A
HTR1A
5-hydroxytryptamine receptor 1A 0.522 0.846 0.20
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 3357
Gene Symbol: HTR2B
HTR2B
5-hydroxytryptamine receptor 2B 0.647 0.538 2.7E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.010 None 1.000 1 2 2014 2014
Entrez Id: 3363
Gene Symbol: HTR7
HTR7
5-hydroxytryptamine receptor 7 0.592 0.500 4.5E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.450 None 1.000 6 0 2000 2016
Entrez Id: 9472
Gene Symbol: AKAP6
AKAP6
A-kinase anchoring protein 6 0.695 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2017 2017
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 2 0 2006 2011
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5
abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.120 None 1.000 2 0 2003 2019
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 438
Gene Symbol: ASMT
ASMT
acetylserotonin O-methyltransferase 0.691 0.346 1.3E-20
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.010 None 1.000 1 1 2011 2011
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1
achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2011 2011
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0