Source: CURATED

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 7 20 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 5 6 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: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 0.310 None 1.000 0 0 2000 2000
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856303
Disease: GSD IV, Neuromuscular Form, Fatal Perinatal
GSD IV, Neuromuscular Form, Fatal Perinatal 		disease 0.300 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856304
Disease: GSD IV, Neuromuscular Form, Congenital
GSD IV, Neuromuscular Form, Congenital 		disease 0.400 None 0 6
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856305
Disease: GSD IV, Neuromuscular Form, Childhood
GSD IV, Neuromuscular Form, Childhood 		disease 0.400 None 0 1
Entrez Id: 10554
Gene Symbol: AGPAT1
AGPAT1 		1-acylglycerol-3-phosphate O-acyltransferase 1 0.743 0.423 0.97
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		disease 0.300 None 1.000 1 0 2017 2017
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 3 25 2002 2019
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: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		disease 0.300 limited 0 0
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2 		1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease 0.500 None 1.000 0 2 2002 2019
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2 		1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 0.320 None 1.000 0 0 2004 2007
Entrez Id: 56894
Gene Symbol: AGPAT3
AGPAT3 		1-acylglycerol-3-phosphate O-acyltransferase 3 0.931 0.038 1.00
CUI: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		group 0.300 None 1.000 1 0 2005 2005
Entrez Id: 56894
Gene Symbol: AGPAT3
AGPAT3 		1-acylglycerol-3-phosphate O-acyltransferase 3 0.931 0.038 1.00
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group 0.300 None 1.000 1 0 2005 2005
Entrez Id: 56894
Gene Symbol: AGPAT3
AGPAT3 		1-acylglycerol-3-phosphate O-acyltransferase 3 0.931 0.038 1.00
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord 		group 0.300 None 1.000 1 0 2005 2005
Entrez Id: 84680
Gene Symbol: ACCS
ACCS 		1-aminocyclopropane-1-carboxylate synthase homolog (inactive) 0.522 0.731 9.0E-07
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.320 None 1.000 0 1 2017 2018
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 3 1 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 3 1 2008 2015
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C0029411
Disease: Osteoarthropathy, Primary Hypertrophic
Osteoarthropathy, Primary Hypertrophic 		disease 0.600 None 1.000 2 0 2008 2019
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C1531773
Disease: Currarino triad
Currarino triad 		disease 0.300 None 1.000 2 0 2008 2011
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C2674695
Disease: Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 		disease 0.300 None 1.000 2 0 2008 2015