Entrez Id: |
2632 |
Gene Symbol: |
GBE1 |
GBE1
|
1,4-alpha-glucan branching enzyme 1
|
0.612 |
0.654 |
1.1E-12 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |