Source: CLINVAR

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 25 19 1996 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
disease 0.100 None 1.000 18 8 1996 2016
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
Early severe fetal akinesia sequence
phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
Polyglucosan Body Disease, Adult Form
disease 0.800 None 1.000 0 4 1998 2018
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
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
GSD IV, Neuromuscular Form, Childhood
disease 0.400 None 0 1
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
phenotype 0.100 None 0 2
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
phenotype 0.100 None 0 1
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
phenotype 0.100 None 0 2
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY
disease 0.100 None 0 5
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
Congenital Generalized Lipodystrophy Type 1
disease 0.930 None 0.857 0 24 2002 2019
Entrez Id: 3248
Gene Symbol: HPGD
HPGD
15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
disease 0.710 None 1.000 1 6 2008 2017
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 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 0 1 2008 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 0 5 2000 2019
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.682 0.462 2.0E-10
Spondyloepimetaphyseal Dysplasia, Pakistani Type
disease 0.920 None 1.000 5 10 1969 2015
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.682 0.462 2.0E-10
CUI: C0432228
Disease: Brachyolmia
Brachyolmia
disease 0.130 None 1.000 0 1 2012 2019
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 16 22 1988 2020
Entrez Id: 3156
Gene Symbol: HMGCR
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase 0.529 0.692 1.00
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
phenotype 0.100 None 0 1
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2 0.666 0.577 4.3E-14
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
disease 0.710 definitive 1.000 5 8 1994 2016
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
Sensorineural Hearing Loss (disorder)
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease 0.100 None 1.000 1 1 2017 2017