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: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 1.000 None 1.000 5 0 1996 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		disease 0.800 None 1.000 4 0 1998 2018
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.360 None 1.000 1 0 1999 2016
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		disease 0.310 strong 1.000 1 0 2004 2011
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856309
Disease: Fetal hydrops (in perinatal or congenital neuromuscular forms)
Fetal hydrops (in perinatal or congenital neuromuscular forms) 		phenotype 0.300 strong 1.000 1 0 2012 2012
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2 		1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		disease 0.700 strong 1.000 2 0 2002 2016
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2 		1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		disease 0.930 None 0.857 2 0 2002 2019
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2 		1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		disease 0.300 limited 0 0
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C0345408
Disease: Hereditary clubbing
Hereditary clubbing 		disease 0.700 None 1.000 0 0 2008 2015
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C2678439
Disease: CRANIOOSTEOARTHROPATHY
CRANIOOSTEOARTHROPATHY 		disease 0.710 limited 1.000 0 0 2008 2015
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C4551679
Disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 		disease 0.710 None 1.000 0 0 2008 2017
Entrez Id: 1666
Gene Symbol: DECR1
DECR1 		2,4-dienoyl-CoA reductase 1 0.426 0.885 4.5E-14
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		disease 0.500 limited 1.000 1 0 2014 2015
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		disease 0.790 None 1.000 4 0 2000 2019
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2 		3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.682 0.462 2.0E-10
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		disease 0.920 None 1.000 1 0 1969 2015
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2 		3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.682 0.462 2.0E-10
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		disease 0.780 definitive 0.967 3 0 1988 2020
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: 3158
Gene Symbol: HMGCS2
HMGCS2 		3-hydroxy-3-methylglutaryl-CoA synthase 2 0.666 0.577 4.3E-14
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		disease 0.710 definitive 1.000 2 0 1994 2016
Entrez Id: 9200
Gene Symbol: HACD1
HACD1 		3-hydroxyacyl-CoA dehydratase 1 0.539 0.846 1.3E-09
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		group 0.320 moderate 1.000 1 0 2013 2017
Entrez Id: 23498
Gene Symbol: HAAO
HAAO 		3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 23498
Gene Symbol: HAAO
HAAO 		3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 23498
Gene Symbol: HAAO
HAAO 		3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		disease 0.600 strong 1.000 1 0 2017 2017
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH 		3-hydroxyisobutyryl-CoA hydrolase 0.700 0.500 2.6E-13
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		disease 0.710 definitive 1.000 3 0 1982 2019