Source: ORPHANET

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: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		disease 0.800 None 1.000 1 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: 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 0
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 0
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: C2678439
Disease: CRANIOOSTEOARTHROPATHY
CRANIOOSTEOARTHROPATHY 		disease 0.710 limited 1.000 2 0 2008 2015
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C2930922
Disease: Reginato Schiapachasse syndrome
Reginato Schiapachasse syndrome 		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: C0029411
Disease: Osteoarthropathy, Primary Hypertrophic
Osteoarthropathy, Primary Hypertrophic 		disease 0.600 None 1.000 1 0 2008 2019
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 1 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 1 0 2008 2017
Entrez Id: 4938
Gene Symbol: OAS1
OAS1 		2'-5'-oligoadenylate synthetase 1 0.626 0.654 3.4E-05
CUI: C2931035
Disease: Pulmonary alveolar proteinosis, congenital
Pulmonary alveolar proteinosis, congenital 		disease 0.300 None 1.000 1 0 2018 2018
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 1 0 2000 2019
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: 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 1 0 1988 2020
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C1533587
Disease: Hydroxymethylglutaric aciduria
Hydroxymethylglutaric aciduria 		disease 0.500 definitive 1.000 1 0 1988 2017
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: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		disease 0.300 None 1.000 1 0 2013 2013
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: 23498
Gene Symbol: HAAO
HAAO 		3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		disease 0.300 None 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 2 0 1982 2019
Entrez Id: 2531
Gene Symbol: KDSR
KDSR 		3-ketodihydrosphingosine reductase 0.674 0.538 0.12
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		disease 0.310 None 1.000 1 0 2017 2019
Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1 		3-oxoacid CoA-transferase 1 0.686 0.423 4.7E-03
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		disease 0.700 None 1.000 2 0 1998 2019
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		disease 0.700 None 1.000 2 0 1998 2019
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1 		4-hydroxy-2-oxoglutarate aldolase 1 0.792 0.192 1.6E-14
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		disease 0.780 None 1.000 0 0 2010 2019