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: 51132
Gene Symbol: RLIM
RLIM
ring finger protein, LIM domain interacting 0.686 0.500 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 None 1.000 2 0 2009 2019
Entrez Id: 23499
Gene Symbol: MACF1
MACF1
microtubule actin crosslinking factor 1 0.659 0.538 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 2 0 2006 2018
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
polycomb group ring finger 2 0.579 0.615 0.86
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 2 0 2018 2018
Entrez Id: 6095
Gene Symbol: RORA
RORA
RAR related orphan receptor A 0.533 0.808 0.40
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 moderate 1.000 1 0 2018 2018
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 strong 1.000 1 0 2006 2019
Entrez Id: 59272
Gene Symbol: ACE2
ACE2
angiotensin I converting enzyme 2 0.477 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
arginyl-tRNA synthetase 1 0.604 0.538 3.3E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 None 1.000 1 0 2014 2014
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.606 0.654 2.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 strong 1.000 1 0 2011 2020
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.440 limited 1.000 1 0 2015 2019
Entrez Id: 5898
Gene Symbol: RALA
RALA
RAS like proto-oncogene A 0.656 0.577 0.97
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 1 0 2018 2018
Entrez Id: 5881
Gene Symbol: RAC3
RAC3
Rac family small GTPase 3 0.682 0.423 2.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 1 0 2018 2019
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.510 strong 1.000 1 0 2002 2019
Entrez Id: 6844
Gene Symbol: VAMP2
VAMP2
vesicle associated membrane protein 2 0.650 0.462 0.89
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 1 0 2009 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.650 strong 1.000 1 0 2010 2017
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4
solute carrier family 1 member 4 0.700 0.385 6.6E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 1 0 2015 2015
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 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: 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: 6878
Gene Symbol: TAF6
TAF6
TATA-box binding protein associated factor 6 0.769 0.308 8.3E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 strong 1.000 1 0 2015 2015
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: 6418
Gene Symbol: SET
SET
SET nuclear proto-oncogene 0.507 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.410 strong 1.000 1 0 2017 2018
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335
zinc finger protein 335 0.711 0.462 6.9E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 strong 1.000 1 0 2015 2016