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: 390168
Gene Symbol: OR5M1
OR5M1
olfactory receptor family 5 subfamily M member 1 1.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 0 0
Entrez Id: 200424
Gene Symbol: TET3
TET3
tet methylcytosine dioxygenase 3 0.633 0.615 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 0 0
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: 3149
Gene Symbol: HMGB3
HMGB3
high mobility group box 3 0.604 0.615 0.80
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 1 0 1971 1971
Entrez Id: 2555
Gene Symbol: GABRA2
GABRA2
gamma-aminobutyric acid type A receptor subunit alpha2 0.641 0.346 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 1978 1978
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: 4929
Gene Symbol: NR4A2
NR4A2
nuclear receptor subfamily 4 group A member 2 0.529 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 moderate 1.000 1 0 1979 2018
Entrez Id: 6898
Gene Symbol: TAT
TAT
tyrosine aminotransferase 0.492 0.846 6.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 1 0 1982 2017
Entrez Id: 79649
Gene Symbol: MAP7D3
MAP7D3
MAP7 domain containing 3 4.6E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 1989 1989
Entrez Id: 55275
Gene Symbol: VPS53
VPS53
VPS53 subunit of GARP complex 0.659 0.654 1.4E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 1989 1989
Entrez Id: 760
Gene Symbol: CA2
CA2
carbonic anhydrase 2 0.506 0.808 1.7E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 strong 1.000 1 0 1991 2002
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 1992 1992
Entrez Id: 158
Gene Symbol: ADSL
ADSL
adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 1 0 1992 2016
Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A
protein phosphatase 1 regulatory subunit 12A 0.626 0.615 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 1993 2020
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: 7372
Gene Symbol: UMPS
UMPS
uridine monophosphate synthetase 0.584 0.615 1.1E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 2 0 1997 2016
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
AF4/FMR2 family member 3 0.623 0.692 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.330 None 1.000 1 0 1997 2014
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
polyglutamine binding protein 1 0.570 0.654 0.79
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 1.000 1 0 1998 2019
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: 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 1 0 2000 2016
Entrez Id: 55998
Gene Symbol: NXF5
NXF5
nuclear RNA export factor 5 0.805 0.346 3.7E-14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.320 limited 1.000 1 0 2001 2013
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: 8724
Gene Symbol: SNX3
SNX3
sorting nexin 3 0.743 0.423 0.25
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2002 2002
Entrez Id: 11279
Gene Symbol: KLF8
KLF8
Kruppel like factor 8 0.628 0.462 2.2E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 limited 1.000 1 0 2002 2002