Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
17-Hydroxysteroid Dehydrogenase Deficiency
0.790 Biomarker GENOMICS_ENGLAND

Entrez Id: 133686
Gene Symbol: NADK2
NADK2
2,4-Dienoyl-CoA Reductase Deficiency
0.600 Biomarker GENOMICS_ENGLAND Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient. 27940755

2016

Entrez Id: 133686
Gene Symbol: NADK2
NADK2
2,4-Dienoyl-CoA Reductase Deficiency
0.600 Biomarker GENOMICS_ENGLAND Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant. 29388319

2018

Entrez Id: 1666
Gene Symbol: DECR1
DECR1
2,4-Dienoyl-CoA Reductase Deficiency
0.500 Biomarker GENOMICS_ENGLAND Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. 24847004

2014

Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
0.700 Biomarker GENOMICS_ENGLAND DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293

2012

Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 Biomarker GENOMICS_ENGLAND

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 Biomarker GENOMICS_ENGLAND A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability. 22132097

2011

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
0.750 Biomarker GENOMICS_ENGLAND A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. 10521307

1999

Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
2-Methylbutyryl-CoA Dehydrogenase Deficiency
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
2-Methylbutyryl-CoA Dehydrogenase Deficiency
0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker GENOMICS_ENGLAND Genetic counselling in a national referral centre for pulmonary hypertension. 26699722

2016

Entrez Id: 64321
Gene Symbol: SOX17
SOX17
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker GENOMICS_ENGLAND SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension. 30044643

2018

Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961

2018

Entrez Id: 857
Gene Symbol: CAV1
CAV1
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961

2018

Entrez Id: 2022
Gene Symbol: ENG
ENG
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker GENOMICS_ENGLAND Genetic counselling in a national referral centre for pulmonary hypertension. 26699722

2016

Entrez Id: 3777
Gene Symbol: KCNK3
KCNK3
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker GENOMICS_ENGLAND A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension. 28388887

2017

Entrez Id: 358
Gene Symbol: AQP1
AQP1
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961

2018

Entrez Id: 79572
Gene Symbol: ATP13A3
ATP13A3
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker GENOMICS_ENGLAND Genetics and genomics of pulmonary arterial hypertension. 30545973

2019

Entrez Id: 2658
Gene Symbol: GDF2
GDF2
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker GENOMICS_ENGLAND Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report. 26801773

2016

Entrez Id: 9496
Gene Symbol: TBX4
TBX4
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker GENOMICS_ENGLAND Towards a molecular classification of pulmonary arterial hypertension. 27694411

2016