Source: GENOMICS_ENGLAND

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: 29081
Gene Symbol: METTL5
METTL5
methyltransferase like 5 1.000 0.115 5.2E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 moderate 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: 23597
Gene Symbol: ACOT9
ACOT9
acyl-CoA thioesterase 9 0.931 0.154 6.8E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 79090
Gene Symbol: TRAPPC6A
TRAPPC6A
trafficking protein particle complex 6A 0.931 5.1E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2018 2018
Entrez Id: 9204
Gene Symbol: ZMYM6
ZMYM6
zinc finger MYM-type containing 6 0.931 0.115 6.3E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 391356
Gene Symbol: PTRHD1
PTRHD1
peptidyl-tRNA hydrolase domain containing 1 0.890 0.154 4.6E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.320 moderate 1.000 1 0 2017 2018
Entrez Id: 84320
Gene Symbol: ACBD6
ACBD6
acyl-CoA binding domain containing 6 0.890 0.269 2.3E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 limited 1.000 1 0 2011 2011
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
MSL complex subunit 3 0.861 0.115 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 11198
Gene Symbol: SUPT16H
SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit 0.861 0.192 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 1979 2016
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: 26115
Gene Symbol: TANC2
TANC2
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 0.861 0.154 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 57700
Gene Symbol: FAM160B1
FAM160B1
family with sequence similarity 160 member B1 0.861 0.192 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 limited 1.000 1 0 2019 2019
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142
zinc finger protein 142 0.861 0.192 4.8E-16
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 1 0 2019 2019
Entrez Id: 64216
Gene Symbol: TFB2M
TFB2M
transcription factor B2, mitochondrial 0.861 0.231 8.8E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 0 0
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: 192683
Gene Symbol: SCAMP5
SCAMP5
secretory carrier membrane protein 5 0.839 0.192 0.65
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 moderate 1.000 1 0 2010 2020
Entrez Id: 2036
Gene Symbol: EPB41L1
EPB41L1
erythrocyte membrane protein band 4.1 like 1 0.839 0.192 0.88
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 1 0 2011 2011
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: 5833
Gene Symbol: PCYT2
PCYT2
phosphate cytidylyltransferase 2, ethanolamine 0.821 0.192 8.6E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 2 0 2012 2019
Entrez Id: 10531
Gene Symbol: PITRM1
PITRM1
pitrilysin metallopeptidase 1 0.821 0.308 5.9E-21
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 1 0 2016 2018
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
Entrez Id: 55621
Gene Symbol: TRMT1
TRMT1
tRNA methyltransferase 1 0.821 0.269 1.9E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.520 strong 1.000 1 0 2011 2017
Entrez Id: 64219
Gene Symbol: PJA1
PJA1
praja ring finger ubiquitin ligase 1 0.821 0.269 0.93
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2001 2001
Entrez Id: 27107
Gene Symbol: ZBTB11
ZBTB11
zinc finger and BTB domain containing 11 0.805 0.192 3.2E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 moderate 1.000 1 0 2017 2018