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 0.612 0.654 1.1E-12
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV
disease 1.000 None 1.000 3 4 1996 2017
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 1 2 1998 2018
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 2 2 2002 2019
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 1 1 2008 2015
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 1 2008 2017
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 2 6 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 2 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 10 10 1988 2020
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 3 5 1994 2016
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
3-hydroxyisobutyryl-CoA hydrolase 0.700 0.500 2.6E-13
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
disease 0.710 definitive 1.000 1 1 1982 2019
Entrez Id: 2531
Gene Symbol: KDSR
KDSR
3-ketodihydrosphingosine reductase 0.674 0.538 0.12
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
disease 0.600 None 1.000 1 1 2017 2017
Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1
3-oxoacid CoA-transferase 1 0.686 0.423 4.7E-03
Succinyl-CoA:3-oxoacid CoA transferase deficiency
disease 0.700 None 1.000 3 8 1998 2019
Entrez Id: 54995
Gene Symbol: OXSM
OXSM
3-oxoacyl-ACP synthase, mitochondrial 0.861 0.115 2.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.300 None 0 0
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
Gamma aminobutyric acid transaminase deficiency
disease 0.700 None 1.000 1 1 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 1 2 2010 2019
Entrez Id: 3242
Gene Symbol: HPD
HPD
4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
disease 0.940 moderate 1.000 2 1 1972 2012
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C4551511
Disease: X-linked sideroblastic anemia
X-linked sideroblastic anemia
disease 0.800 strong 1.000 10 12 1992 2019
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
5'-nucleotidase ecto 0.436 0.885 2.3E-11
Calcification of Joints and Arteries
disease 0.730 None 1.000 2 1 2011 2016
Entrez Id: 22978
Gene Symbol: NT5C2
NT5C2
5'-nucleotidase, cytosolic II 0.537 0.846 2.1E-06
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
disease 0.710 None 1.000 2 0 2009 2017
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
5'-nucleotidase, cytosolic IIIA 0.593 0.692 1.5E-02
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
disease 0.700 None 1.000 8 4 2001 2016
Entrez Id: 471
Gene Symbol: ATIC
ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.576 0.731 3.0E-19
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
disease 0.700 strong 1.000 1 1 2004 2004
Entrez Id: 170572
Gene Symbol: HTR3C
HTR3C
5-hydroxytryptamine receptor 3C 0.769 0.192 2.6E-10
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.300 None 0 1
Entrez Id: 3361
Gene Symbol: HTR5A
HTR5A
5-hydroxytryptamine receptor 5A 0.716 0.231 6.3E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.300 None 0 1
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
Methylcobalamin Deficiency, CblG Type
disease 0.700 None 1.000 2 2 1996 2017