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: 84148
Gene Symbol: KAT8
KAT8
lysine acetyltransferase 8 0.592 0.654 0.22
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2020 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2
UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2020 2020
Entrez Id: 253959
Gene Symbol: RALGAPA1
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1 0.861 0.231 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2020 2020
Entrez Id: 9698
Gene Symbol: PUM1
PUM1
pumilio RNA binding family member 1 0.653 0.654 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2020 2020
Entrez Id: 51780
Gene Symbol: KDM3B
KDM3B
lysine demethylase 3B 0.686 0.500 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 moderate 1.000 1 0 2019 2019
Entrez Id: 128869
Gene Symbol: PIGU
PIGU
phosphatidylinositol glycan anchor biosynthesis class U 0.670 0.462 1.9E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 9330
Gene Symbol: GTF3C3
GTF3C3
general transcription factor IIIC subunit 3 1.000 7.0E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
glutamic-oxaloacetic transaminase 2 0.529 0.731 1.4E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2019 2019
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8
alkB homolog 8, tRNA methyltransferase 0.716 0.423 2.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2019 2019
Entrez Id: 6602
Gene Symbol: SMARCD1
SMARCD1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 0.695 0.385 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 7812
Gene Symbol: CSDE1
CSDE1
cold shock domain containing E1 0.769 0.308 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 1173
Gene Symbol: AP2M1
AP2M1
adaptor related protein complex 2 subunit mu 1 0.751 0.231 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 116931
Gene Symbol: MED12L
MED12L
mediator complex subunit 12L 0.839 0.269 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.320 moderate 1.000 1 0 2019 2019
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
protein phosphatase 2 catalytic subunit alpha 0.608 0.769 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 1 0 2019 2019
Entrez Id: 9488
Gene Symbol: PIGB
PIGB
phosphatidylinositol glycan anchor biosynthesis class B 0.839 0.038 3.9E-11
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 11342
Gene Symbol: RNF13
RNF13
ring finger protein 13 0.722 0.346 4.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 4905
Gene Symbol: NSF
NSF
N-ethylmaleimide sensitive factor, vesicle fusing ATPase 0.659 0.577 1.8E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2019 2019
Entrez Id: 162
Gene Symbol: AP1B1
AP1B1
adaptor related protein complex 1 subunit beta 1 0.716 0.385 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 1656
Gene Symbol: DDX6
DDX6
DEAD-box helicase 6 0.663 0.385 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2019 2019
Entrez Id: 23476
Gene Symbol: BRD4
BRD4
bromodomain containing 4 0.446 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 51227
Gene Symbol: PIGP
PIGP
phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 moderate 1.000 1 0 2019 2019
Entrez Id: 23761
Gene Symbol: PISD
PISD
phosphatidylserine decarboxylase 0.821 0.308 0.22
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2019 2019
Entrez Id: 51075
Gene Symbol: TMX2
TMX2
thioredoxin related transmembrane protein 2 0.821 0.231 0.65
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019