Source: UNIPROT

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 0.621 0.517 4.1E-12
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV
disease 0.900 1.000 2 7 1993 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
disease 0.400 2 7 1996 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C1856302
Disease: GSD IV, Nonprogressive Hepatic
GSD IV, Nonprogressive Hepatic
disease 0.300 2 7 1996 2005
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
GSD IV, Neuromuscular Form, Fatal Perinatal
disease 0.500 2 7 1996 2005
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
GSD IV, Neuromuscular Form, Congenital
disease 0.600 2 7 1994 2009
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
GSD IV, Neuromuscular Form, Childhood
disease 0.600 2 7 1996 2005
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy
disease 0.300 2 7 1996 2005
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
Cirrhosis, familial, with deposition of abnormal glycogen
disease 0.300 2 7 1996 2005
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
Polyglucosan Body Disease, Adult Form
disease 0.800 1.000 1 2 1999 2016
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2 0.600 0.552 8.7E-08
Congenital Generalized Lipodystrophy Type 1
disease 0.820 1.000 1 3 1993 2016
Entrez Id: 84680
Gene Symbol: ACCS
ACCS
1-aminocyclopropane-1-carboxylate synthase homolog (inactive) 0.785 0.241 9.9E-07
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.300 1 1 2006 2006
Entrez Id: 3248
Gene Symbol: HPGD
HPGD
15-hydroxyprostaglandin dehydrogenase 0.557 0.586 1.4E-05
Osteoarthropathy, Primary Hypertrophic
disease 0.800 1.000 1 1 1998 2016
Entrez Id: 3248
Gene Symbol: HPGD
HPGD
15-hydroxyprostaglandin dehydrogenase 0.557 0.586 1.4E-05
CUI: C0345408
Disease: Hereditary clubbing
Hereditary clubbing
disease 0.700 1 1 2008 2015
Entrez Id: 3248
Gene Symbol: HPGD
HPGD
15-hydroxyprostaglandin dehydrogenase 0.557 0.586 1.4E-05
CUI: C2678439
Disease: CRANIOOSTEOARTHROPATHY
CRANIOOSTEOARTHROPATHY
disease 0.710 1.000 1 1 1998 2015
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
24-dehydrocholesterol reductase 0.572 0.655 3.8E-02
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis
disease 0.750 1.000 1 4 2001 2015
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.720 0.345 2.6E-10
Spondyloepimetaphyseal Dysplasia, Pakistani Type
disease 0.920 1.000 5 2 1968 2016
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.720 0.345 2.6E-10
Spondylodysplasia And Premature Pubarche
disease 0.500 5 2 1968 2016
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
3-hydroxy-3-methylglutaryl-CoA lyase 0.785 0.207 2.4E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency
disease 0.750 1.000 10 7 1993 2014
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2 0.701 0.310 9.3E-14
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
disease 0.700 3 5 1997 2016
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
3-hydroxyisobutyryl-CoA hydrolase 0.735 0.276 2.9E-13
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
disease 0.710 1.000 1 1 1982 2016
Entrez Id: 2531
Gene Symbol: KDSR
KDSR
3-ketodihydrosphingosine reductase 0.707 0.310 0.12
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
disease 0.400 1 0 2017 2017
Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1
3-oxoacid CoA-transferase 1 0.735 0.276 4.1E-03
Succinyl-CoA:3-oxoacid CoA transferase deficiency
disease 0.700 3 7 1992 2011
Entrez Id: 54995
Gene Symbol: OXSM
OXSM
3-oxoacyl-ACP synthase, mitochondrial 1.000 0.069 1.9E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.300 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.639 0.276 6.0E-03
Gamma aminobutyric acid transaminase deficiency
disease 0.700 1 1 1984 2015
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
4-hydroxy-2-oxoglutarate aldolase 1 0.815 0.172 1.5E-14
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III
disease 0.720 1.000 1 2 1993 2017