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: 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: 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: 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: 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: 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: 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: 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: 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
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: 2530
Gene Symbol: FUT8
FUT8
fucosyltransferase 8 0.603 0.692 9.9E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2005 2005
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: 23636
Gene Symbol: NUP62
NUP62
nucleoporin 62 0.470 0.885 0.95
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 1 0 2006 2006
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
leucine rich repeat LGI family member 4 0.678 0.308 7.2E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2006 2006
Entrez Id: 6697
Gene Symbol: SPR
SPR
sepiapterin reductase 0.631 0.654 4.3E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2006 2006
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 1 0 2006 2006
Entrez Id: 4520
Gene Symbol: MTF1
MTF1
metal regulatory transcription factor 1 0.751 0.500 0.97
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2008 2008
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
tubulin alpha 1a 0.597 0.769 0.97
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 1 0 2007 2008
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
transcobalamin 2 0.578 0.615 1.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2009 2009
Entrez Id: 80324
Gene Symbol: PUS1
PUS1
pseudouridine synthase 1 0.695 0.462 1.7E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 limited 1.000 1 0 2009 2009
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