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: 2624
Gene Symbol: GATA2
GATA2 		GATA binding protein 2 0.496 0.654 0.98
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group 0.800 None 0.976 4 0 2002 2019
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: 1130
Gene Symbol: LYST
LYST 		lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group 0.300 strong 1.000 3 0 2002 2014
Entrez Id: 1130
Gene Symbol: LYST
LYST 		lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group 0.400 strong 1.000 3 0 2002 2014
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA 		aldolase, fructose-bisphosphate A 0.631 0.615 1.3E-03
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.300 strong 1.000 3 0 1981 2016
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 0.800 None 0.971 3 0 1982 2019
Entrez Id: 10771
Gene Symbol: ZMYND11
ZMYND11 		zinc finger MYND-type containing 11 0.647 0.500 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.340 None 0.800 2 0 2014 2020
Entrez Id: 112812
Gene Symbol: FDX2
FDX2 		ferredoxin 2 0.780 0.346 1.7E-03
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group 0.710 strong 1.000 2 0 2014 2018
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		group 0.550 None 1.000 2 0 1999 2016
Entrez Id: 131669
Gene Symbol: UROC1
UROC1 		urocanate hydratase 1 0.780 0.385 2.1E-15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.510 moderate 1.000 2 0 2009 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 1.000 2 0 2011 2019
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1 		phosphatase and actin regulator 1 0.663 0.423 0.64
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.310 strong 1.000 2 0 2017 2018
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA 		aldolase, fructose-bisphosphate A 0.631 0.615 1.3E-03
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.300 strong 1.000 2 0 1981 1996
Entrez Id: 22845
Gene Symbol: DOLK
DOLK 		dolichol kinase 0.736 0.385 1.2E-03
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group 0.330 strong 1.000 2 0 2011 2018
Entrez Id: 23040
Gene Symbol: MYT1L
MYT1L 		myelin transcription factor 1 like 0.659 0.462 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.470 strong 1.000 2 0 2011 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: 2539
Gene Symbol: G6PD
G6PD 		glucose-6-phosphate dehydrogenase 0.424 0.846 0.97
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.400 strong 1.000 2 0 1990 2018
Entrez Id: 2729
Gene Symbol: GCLC
GCLC 		glutamate-cysteine ligase catalytic subunit 0.509 0.885 0.43
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.300 strong 1.000 2 0 1996 1999
Entrez Id: 284439
Gene Symbol: SLC25A42
SLC25A42 		solute carrier family 25 member 42 0.760 0.269 0.49
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group 0.410 strong 1.000 2 0 2016 2018
Entrez Id: 2937
Gene Symbol: GSS
GSS 		glutathione synthetase 0.626 0.731 1.8E-06
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.310 strong 1.000 2 0 1996 2001
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: 392636
Gene Symbol: AGMO
AGMO 		alkylglycerol monooxygenase 0.780 0.423 6.8E-26
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.310 None 1.000 2 0 2016 2019
Entrez Id: 3939
Gene Symbol: LDHA
LDHA 		lactate dehydrogenase A 0.507 0.808 6.9E-02
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.300 strong 1.000 2 0 1984 2016
Entrez Id: 4212
Gene Symbol: MEIS2
MEIS2 		Meis homeobox 2 0.601 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.460 strong 1.000 2 0 2007 2020
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		NADH:ubiquinone oxidoreductase subunit A1 0.636 0.423 0.55
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group 0.330 strong 1.000 2 0 1988 2017