Keyphrases
Phenotypic Characterization
100%
Mutation Carriers
100%
Large Cohort
100%
Gene mutation
100%
Pulmonary Arterial Hypertension
100%
α-kinase
100%
Eukaryotic Translation Initiation Factor 2α
100%
Biallelic
55%
Venous Disease
44%
Pulmonary Capillary Hemangiomatosis
44%
Bone Morphogenetic protein-2 (BMP-2)
33%
Idiopathic Pulmonary Arterial Hypertension
33%
Heritable Pulmonary Arterial Hypertension
33%
Rare Diseases
22%
Young Age
22%
Age at Diagnosis
22%
Biallelic mutations
22%
Clinical Diagnosis
22%
Computed Tomography
11%
Molecular Diagnostics
11%
Chest CT
11%
Minor Allele Frequency
11%
Genetic Basis
11%
National Institutes of Health
11%
Genetic Testing
11%
Gene Variants
11%
Delayed Diagnosis
11%
Carbon Dioxide
11%
Radiological Assessment
11%
Appropriate Management
11%
Whole Genome Sequencing
11%
Lung Transplantation
11%
Heterozygous mutation
11%
Early Referral
11%
Genetic Causes
11%
Genotype-phenotype
11%
Control Information
11%
Transfer Coefficient
11%
Heterozygous Variant
11%
Bioresources
11%
Interlobular Septal Thickening
11%
Predicted Age
11%
Mediastinal Lymphadenopathy
11%
PolyPhen-2
11%
Intolerant
11%
Misclassified
11%
Health Research
11%
Combined Annotation-dependent Depletion
11%
Phenotype Characteristics
11%
INIS
patients
100%
hypertension
100%
carriers
100%
gene mutations
100%
kinases
100%
diseases
46%
mutations
38%
capillaries
30%
genes
30%
receptors
23%
bones
23%
proteins
23%
genetics
23%
data
15%
computed tomography
15%
phenotype
15%
range
15%
testing
7%
lungs
7%
control
7%
comparative evaluations
7%
assessments
7%
dna
7%
genotype
7%
management
7%
prediction
7%
chest
7%
sorting
7%
carbon monoxide
7%
Medicine and Dentistry
Phosphotransferase
100%
Gene Mutation
100%
Pulmonary Hypertension
100%
Initiation Factor 2alpha
100%
Initiation Factor
100%
Pulmonary Capillary Hemangiomatosis
40%
Pulmonary Veno Occlusive Disease
40%
Bone Morphogenetic Protein Receptor 2
30%
Computer Assisted Tomography
20%
Rare Disease
20%
Patient Referral
10%
Carbon Monoxide
10%
Genetic Screening
10%
Lung Transplantation
10%
Whole Genome Sequencing
10%
Gene Frequency
10%
Molecular Diagnosis
10%
Mediastinal Lymphadenopathy
10%
Biochemistry, Genetics and Molecular Biology
Phosphotransferase
100%
Kinase
100%
Gene Mutation
100%
Eukaryotic Translation
100%
Initiation Factor
100%
Bone Morphogenetic Protein Receptor Type 2
33%
Genetics
22%
Computer Assisted Tomography
22%
Genotyping
11%
Whole Genome Sequencing
11%
Genetic Screening
11%
Minor Allele Frequency
11%