Entrez Id: |
1586 |
Gene Symbol: |
CYP17A1 |
CYP17A1
|
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
|
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
|
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
|
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
|
0.700 |
Biomarker |
GENOMICS_ENGLAND |
|
|
|
Entrez Id: |
55526 |
Gene Symbol: |
DHTKD1 |
DHTKD1
|
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
|
0.700 |
Biomarker |
GENOMICS_ENGLAND |
|
|
|
HSD17B10
|
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 |
HSD17B10
|
2-methyl-3-hydroxybutyric aciduria
|
0.750 |
Biomarker |
GENOMICS_ENGLAND |
|
|
|
HSD17B10
|
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 |
HSD17B10
|
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 |