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: 51294
Gene Symbol: PCDH12
PCDH12
protocadherin 12 0.722 0.346 2.9E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 4 0 2008 2019
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
solute carrier family 6 member 3 0.453 0.885 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 2 0 2011 2016
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: 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: 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: 3735
Gene Symbol: KARS1
KARS1
lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 2 0 2015 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: 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: 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: 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: 25914
Gene Symbol: RTTN
RTTN
rotatin 0.619 0.654 9.0E-34
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 25930
Gene Symbol: PTPN23
PTPN23
protein tyrosine phosphatase non-receptor type 23 0.743 0.308 3.1E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2015 2015
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: 57551
Gene Symbol: TAOK1
TAOK1
TAO kinase 1 0.792 0.269 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
coiled-coil domain containing 47 0.678 0.462 6.1E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 2671
Gene Symbol: GFER
GFER
growth factor, augmenter of liver regeneration 0.560 0.846 1.7E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2016 2016
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: 22884
Gene Symbol: WDR37
WDR37
WD repeat domain 37 0.751 0.231 0.57
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 79576
Gene Symbol: NKAP
NKAP
NFKB activating protein 0.760 0.269 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 22985
Gene Symbol: ACIN1
ACIN1
apoptotic chromatin condensation inducer 1 0.751 0.308 1.00
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: 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: 777
Gene Symbol: CACNA1E
CACNA1E
calcium voltage-gated channel subunit alpha1 E 0.650 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 7737
Gene Symbol: RNF113A
RNF113A
ring finger protein 113A 0.597 0.769 0.89
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 limited 1.000 1 0 2017 2017