Diseases of the circulatory system

Chapter9

Case/Control GWAS

GWAS of Chapter9

Statistics

Case Control
163222 296984

Top SNP Information

Associated Phenotypes

ID Name Top Correlation
HP: 0000008 Abnormal morphology of female internal genitalia 1/20
HP: 0000016 Urinary retention 1/20
HP: 0000077 Abnormality of the kidney 2/20
HP: 0000078 Abnormality of the genital system 2/20
HP: 0000079 Abnormality of the urinary system 2/20
HP: 0000080 Abnormality of reproductive system physiology 1/20
HP: 0000118 Phenotypic abnormality 1/20
HP: 0000119 Abnormality of the genitourinary system 2/20
HP: 0000137 Abnormality of the ovary 1/20
HP: 0000140 Abnormality of the menstrual cycle 1/20
HP: 0000144 Decreased fertility 1/20
HP: 0000152 Abnormality of head or neck 2/20
HP: 0000153 Abnormality of the mouth 1/20
HP: 0000157 Abnormality of the tongue 1/20
HP: 0000163 Abnormal oral cavity morphology 1/20
HP: 0000168 Abnormality of the gingiva 2/20
HP: 0000234 Abnormality of the head 2/20
HP: 0000271 Abnormality of the face 4/20
HP: 0000356 Abnormality of the outer ear 2/20
HP: 0000363 Abnormality of earlobe 2/20
HP: 0000377 Abnormality of the pinna 2/20
HP: 0000464 Abnormality of the neck 1/20
HP: 0000478 Abnormality of the eye 1/20
HP: 0000479 Abnormal retinal morphology 1/20
HP: 0000488 Retinopathy 1/20
HP: 0000600 Abnormality of the pharynx 1/20
HP: 0000707 Abnormality of the nervous system 3/20
HP: 0000708 Behavioral abnormality 1/20
HP: 0000743 Frontal release signs 2/20
HP: 0000763 Sensory neuropathy 1/20
HP: 0000765 Abnormality of the thorax 2/20
HP: 0000782 Abnormality of the scapula 1/20
HP: 0000789 Infertility 1/20
HP: 0000811 Abnormal external genitalia 1/20
HP: 0000812 Abnormal internal genitalia 1/20
HP: 0000847 Abnormality of renin-angiotensin system 2/20
HP: 0000858 Irregular menstruation 1/20
HP: 0000911 Flat glenoid fossa 2/20
HP: 0000924 Abnormality of the skeletal system 2/20
HP: 0000925 Abnormality of the vertebral column 1/20
HP: 0000929 Abnormal skull morphology 2/20
HP: 0000932 Abnormality of the posterior cranial fossa 1/20
HP: 0000940 Abnormal diaphysis morphology 1/20
HP: 0000951 Abnormality of the skin 2/20
HP: 0001042 High axial triradius 1/20
HP: 0001117 Sudden loss of visual acuity 1/20
HP: 0001194 Abnormalities of placenta or umbilical cord 1/20
HP: 0001197 Abnormality of prenatal development or birth 1/20
HP: 0001218 Autoamputation 2/20
HP: 0001251 Ataxia 2/20
HP: 0001279 Syncope 1/20
HP: 0001288 Gait disturbance 1/20
HP: 0001297 Stroke 2/20
HP: 0001367 Abnormal joint morphology 1/20
HP: 0001446 Abnormality of the musculature of the upper limbs 1/20
HP: 0001513 Obesity 1/20
HP: 0001574 Abnormality of the integument 2/20
HP: 0001626 Abnormality of the cardiovascular system 2/20
HP: 0001627 Abnormal heart morphology 2/20
HP: 0001636 Tetralogy of Fallot 1/20
HP: 0001637 Abnormal myocardium morphology 3/20
HP: 0001638 Cardiomyopathy 2/20
HP: 0001639 Hypertrophic cardiomyopathy 2/20
HP: 0001641 Abnormal pulmonary valve morphology 2/20
HP: 0001642 Pulmonic stenosis 1/20
HP: 0001645 Sudden cardiac death 2/20
HP: 0001646 Abnormal aortic valve morphology 2/20
HP: 0001647 Bicuspid aortic valve 2/20
HP: 0001650 Aortic valve stenosis 2/20
HP: 0001654 Abnormal heart valve morphology 2/20
HP: 0001658 Myocardial infarction 2/20
HP: 0001659 Aortic regurgitation 2/20
HP: 0001667 Right ventricular hypertrophy 1/20
HP: 0001677 Coronary artery atherosclerosis 2/20
HP: 0001678 Atrioventricular block 2/20
HP: 0001679 Abnormal aortic morphology 2/20
HP: 0001681 Angina pectoris 2/20
HP: 0001695 Cardiac arrest 2/20
HP: 0001700 Myocardial necrosis 2/20
HP: 0001711 Abnormal left ventricle morphology 2/20
HP: 0001712 Left ventricular hypertrophy 2/20
HP: 0001713 Abnormal cardiac ventricle morphology 2/20
HP: 0001714 Ventricular hypertrophy 2/20
HP: 0001717 Coronary artery calcification 2/20
HP: 0001739 Abnormality of the nasopharynx 1/20
HP: 0001750 Single ventricle 2/20
HP: 0001869 Deep plantar creases 2/20
HP: 0001871 Abnormality of blood and blood-forming tissues 1/20
HP: 0001872 Abnormal thrombocyte morphology 1/20
HP: 0001873 Thrombocytopenia 1/20
HP: 0001877 Abnormal erythrocyte morphology 1/20
HP: 0001881 Abnormal leukocyte morphology 2/20
HP: 0001892 Abnormal bleeding 1/20
HP: 0001901 Polycythemia 3/20
HP: 0001903 Anemia 1/20
HP: 0001907 Thromboembolism 2/20
HP: 0001920 Renal artery stenosis 2/20
HP: 0001939 Abnormality of metabolism/homeostasis 2/20
HP: 0001945 Fever 1/20
HP: 0002011 Morphological central nervous system abnormality 1/20
HP: 0002037 Inflammation of the large intestine 1/20
HP: 0002060 Abnormal cerebral morphology 1/20
HP: 0002062 Morphological abnormality of the pyramidal tract 2/20
HP: 0002063 Rigidity 1/20
HP: 0002086 Abnormality of the respiratory system 1/20
HP: 0002088 Abnormal lung morphology 1/20
HP: 0002092 Pulmonary arterial hypertension 1/20
HP: 0002093 Respiratory insufficiency 1/20
HP: 0002094 Dyspnea 1/20
HP: 0002140 Ischemic stroke 2/20
HP: 0002170 Intracranial hemorrhage 2/20
HP: 0002205 Recurrent respiratory infections 1/20
HP: 0002315 Headache 1/20
HP: 0002360 Sleep disturbance 1/20
HP: 0002363 Abnormality of brainstem morphology 1/20
HP: 0002492 Morphological abnormality of the corticospinal tract 2/20
HP: 0002493 Upper motor neuron dysfunction 1/20
HP: 0002538 Abnormality of the cerebral cortex 1/20
HP: 0002574 Episodic abdominal pain 1/20
HP: 0002583 Colitis 1/20
HP: 0002597 Abnormality of the vasculature 2/20
HP: 0002607 Bowel incontinence 1/20
HP: 0002621 Atherosclerosis 2/20
HP: 0002623 Overriding aorta 1/20
HP: 0002634 Arteriosclerosis 2/20
HP: 0002637 Cerebral ischemia 2/20
HP: 0002686 Prenatal maternal abnormality 1/20
HP: 0002693 Abnormality of the skull base 1/20
HP: 0002715 Abnormality of the immune system 1/20
HP: 0002716 Lymphadenopathy 1/20
HP: 0002719 Recurrent infections 2/20
HP: 0002721 Immunodeficiency 1/20
HP: 0002730 Chronic noninfectious lymphadenopathy 1/20
HP: 0002733 Abnormality of the lymph nodes 1/20
HP: 0002788 Recurrent upper respiratory tract infections 1/20
HP: 0002843 Abnormal T cell morphology 1/20
HP: 0002875 Exertional dyspnea 1/20
HP: 0002960 Autoimmunity 1/20
HP: 0003011 Abnormality of the musculature 2/20
HP: 0003077 Hyperlipidemia 2/20
HP: 0003107 Abnormal circulating cholesterol concentration 2/20
HP: 0003110 Abnormality of urine homeostasis 1/20
HP: 0003112 Abnormality of serum amino acid level 1/20
HP: 0003115 Abnormal EKG 2/20
HP: 0003119 Abnormal circulating lipid concentration 2/20
HP: 0003155 Elevated alkaline phosphatase 1/20
HP: 0003202 Skeletal muscle atrophy 2/20
HP: 0003207 Arterial calcification 2/20
HP: 0003236 Elevated serum creatine kinase 1/20
HP: 0003241 External genital hypoplasia 2/20
HP: 0003351 Decreased circulating renin level 2/20
HP: 0003418 Back pain 1/20
HP: 0003419 Low back pain 1/20
HP: 0003487 Babinski sign 2/20
HP: 0003700 Generalized amyotrophy 2/20
HP: 0004302 Functional motor deficit 1/20
HP: 0004324 Increased body weight 2/20
HP: 0004337 Abnormality of amino acid metabolism 1/20
HP: 0004338 Abnormal circulating aromatic amino acid concentration 3/20
HP: 0004354 Abnormal circulating carboxylic acid concentration 1/20
HP: 0004360 Abnormality of acid-base homeostasis 1/20
HP: 0004364 Abnormal circulating nitrogen compound concentration 2/20
HP: 0004365 Abnormal circulating tryptophan concentration 2/20
HP: 0004370 Abnormality of temperature regulation 2/20
HP: 0004379 Abnormality of alkaline phosphatase activity 1/20
HP: 0004381 Supravalvular aortic stenosis 2/20
HP: 0004417 Intermittent claudication 2/20
HP: 0004421 Elevated systolic blood pressure 2/20
HP: 0004431 Complement deficiency 1/20
HP: 0004447 Poikilocytosis 1/20
HP: 0004809 Neonatal alloimmune thrombocytopenia 1/20
HP: 0004890 Elevated pulmonary artery pressure 1/20
HP: 0004930 Abnormality of the pulmonary vasculature 1/20
HP: 0004934 Vascular calcification 2/20
HP: 0004950 Peripheral arterial stenosis 2/20
HP: 0005112 Abdominal aortic aneurysm 2/20
HP: 0005120 Abnormal cardiac atrium morphology 1/20
HP: 0005150 Abnormal atrioventricular conduction 2/20
HP: 0005162 Left ventricular dysfunction 2/20
HP: 0005168 Elevated right atrial pressure 2/20
HP: 0005185 Global systolic dysfunction 2/20
HP: 0005339 Abnormality of complement system 1/20
HP: 0005344 Abnormal carotid artery morphology 2/20
HP: 0005403 Decrease in T cell count 1/20
HP: 0005758 Basilar impression 1/20
HP: 0006121 Acral ulceration 2/20
HP: 0006671 Paroxysmal atrial tachycardia 1/20
HP: 0006673 Reduced systolic function 2/20
HP: 0006702 Coronary artery dissection 2/20
HP: 0006704 Abnormal coronary artery morphology 2/20
HP: 0006707 Abnormality of the hepatic vasculature 1/20
HP: 0007256 Abnormal pyramidal sign 2/20
HP: 0007460 Autoamputation of digits 2/20
HP: 0007663 Reduced visual acuity 1/20
HP: 0008047 Abnormality of the vasculature of the eye 1/20
HP: 0008069 Neoplasm of the skin 1/20
HP: 0008112 Plantar flexion contractures 2/20
HP: 0008366 Contractures involving the joints of the feet 2/20
HP: 0008373 Puberty and gonadal disorders 1/20
HP: 0008776 Abnormal renal artery morphology 2/20
HP: 0009055 Generalized limb muscle atrophy 2/20
HP: 0009115 Aplasia/hypoplasia involving the skeleton 1/20
HP: 0009121 Abnormal axial skeleton morphology 2/20
HP: 0009124 Abnormal adipose tissue morphology 1/20
HP: 0009127 Abnormality of the musculature of the limbs 3/20
HP: 0009145 Abnormal cerebral artery morphology 2/20
HP: 0009908 Anterior creases of earlobe 2/20
HP: 0010460 Abnormality of the female genitalia 1/20
HP: 0010461 Abnormality of the male genitalia 1/20
HP: 0010702 Increased antibody level in blood 1/20
HP: 0010867 Dyssynergia 2/20
HP: 0010869 Asynergia 2/20
HP: 0010881 Abnormality of the umbilical cord 1/20
HP: 0010935 Abnormality of the upper urinary tract 2/20
HP: 0010979 Abnormality of lipoprotein cholesterol concentration 2/20
HP: 0010980 Hyperlipoproteinemia 2/20
HP: 0010987 Abnormal cellular immune system morphology 2/20
HP: 0010990 Abnormality of the common coagulation pathway 2/20
HP: 0011004 Abnormal systemic arterial morphology 2/20
HP: 0011025 Abnormal cardiovascular system physiology 7/20
HP: 0011123 Inflammatory abnormality of the skin 1/20
HP: 0011277 Abnormality of the urinary system physiology 2/20
HP: 0011301 Absent foot 2/20
HP: 0011314 Abnormality of long bone morphology 2/20
HP: 0011354 Generalized abnormality of skin 1/20
HP: 0011442 Abnormal central motor function 3/20
HP: 0011443 Abnormality of coordination 2/20
HP: 0011444 Decorticate rigidity 1/20
HP: 0011446 Abnormality of higher mental function 1/20
HP: 0011534 Abnormal spatial orientation of the cardiac segments 2/20
HP: 0011540 Congenitally corrected transposition of the great arteries 2/20
HP: 0011603 Congenital malformation of the great arteries 2/20
HP: 0011628 Congenital defect of the pericardium 1/20
HP: 0011629 Total absence of the pericardium 1/20
HP: 0011652 Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis 1/20
HP: 0011675 Arrhythmia 2/20
HP: 0011706 Second degree atrioventricular block 2/20
HP: 0011708 Mobitz II atrioventricular block 2/20
HP: 0011710 Bundle branch block 2/20
HP: 0011715 Trifascicular block 2/20
HP: 0011792 Neoplasm by histology 1/20
HP: 0011804 Abnormal muscle physiology 2/20
HP: 0011805 Abnormal skeletal muscle morphology 2/20
HP: 0011839 Abnormal T cell count 1/20
HP: 0011842 Abnormality of skeletal morphology 2/20
HP: 0011843 Abnormality of skeletal physiology 1/20
HP: 0011869 Abnormal platelet function 2/20
HP: 0011873 Abnormal platelet count 1/20
HP: 0011878 Abnormal platelet membrane protein expression 2/20
HP: 0011893 Abnormal leukocyte count 2/20
HP: 0011898 Abnormality of circulating fibrinogen 2/20
HP: 0011899 Hyperfibrinogenemia 2/20
HP: 0011902 Abnormal hemoglobin 1/20
HP: 0011915 Cardiovascular calcification 2/20
HP: 0011947 Respiratory tract infection 1/20
HP: 0012130 Abnormal erythroid lineage cell morphology 1/20
HP: 0012196 Cheyne-Stokes respiration 2/20
HP: 0012211 Abnormal renal physiology 2/20
HP: 0012219 Erythema nodosum 1/20
HP: 0012243 Abnormal reproductive system morphology 2/20
HP: 0012249 Abnormal ST segment 2/20
HP: 0012250 ST segment depression 2/20
HP: 0012251 ST segment elevation 3/20
HP: 0012252 Abnormal respiratory system morphology 1/20
HP: 0012266 T-wave alternans 2/20
HP: 0012273 Increased carotid artery intimal medial thickness 2/20
HP: 0012337 Abnormal homeostasis 2/20
HP: 0012373 Abnormal eye physiology 1/20
HP: 0012379 Abnormal enzyme/coenzyme activity 1/20
HP: 0012397 Aortic atherosclerotic lesion 2/20
HP: 0012443 Abnormality of brain morphology 1/20
HP: 0012456 Medial arterial calcification 2/20
HP: 0012474 Carotid artery occlusion 2/20
HP: 0012492 Cerebral artery stenosis 2/20
HP: 0012493 Middle cerebral artery stenosis 2/20
HP: 0012495 Posterior cerebral artery stenosis 2/20
HP: 0012531 Pain 1/20
HP: 0012591 Abnormal urinary electrolyte concentration 1/20
HP: 0012638 Abnormal nervous system physiology 3/20
HP: 0012639 Abnormal nervous system morphology 1/20
HP: 0012722 Heart block 2/20
HP: 0012727 Thoracic aortic aneurysm 2/20
HP: 0012764 Orthopnea 1/20
HP: 0020047 Abnormal myeloid cell morphology 1/20
HP: 0025031 Abnormality of the digestive system 1/20
HP: 0025142 Constitutional symptom 1/20
HP: 0025289 Cervical lymphadenopathy 1/20
HP: 0025323 Abnormal arterial physiology 2/20
HP: 0025343 Lupus anticoagulant 1/20
HP: 0025439 Pharyngitis 1/20
HP: 0025443 Abnormal cardiac atrial physiology 2/20
HP: 0025496 Abnormal coronary artery physiology 2/20
HP: 0025497 Coronary artery spasm 2/20
HP: 0030012 Abnormal female reproductive system physiology 1/20
HP: 0030149 Cardiogenic shock 2/20
HP: 0030151 Cholangitis 1/20
HP: 0030163 Abnormal vascular physiology 3/20
HP: 0030236 Abnormality of muscle size 2/20
HP: 0030680 Abnormality of cardiovascular system morphology 5/20
HP: 0030732 Dysplastic tricuspid valve 1/20
HP: 0030746 Intraventricular hemorrhage 1/20
HP: 0030872 Abnormal cardiac ventricular function 2/20
HP: 0030907 Thunderclap headache 1/20
HP: 0030950 Pulmonary venous hypertension 1/20
HP: 0030956 Abnormality of cardiovascular system electrophysiology 3/20
HP: 0030962 Abnormal morphology of the great vessels 2/20
HP: 0030972 Abnormal systemic blood pressure 2/20
HP: 0031058 Impairment of activities of daily living 1/20
HP: 0031064 Impaired continence 1/20
HP: 0031156 Decreased platelet glycoprotein Ib 2/20
HP: 0031273 Shock 3/20
HP: 0031301 Peripheral arterial calcification 2/20
HP: 0031302 Lower extremity peripheral arterial calcification 2/20
HP: 0031303 Femoral arterial calcification 2/20
HP: 0031313 Abdominal aortic calcification 2/20
HP: 0031466 Impairment in personality functioning 2/20
HP: 0031511 Diagonal earlobe crease 2/20
HP: 0031546 Cardiac conduction abnormality 2/20
HP: 0031567 Abnormal aortic valve cusp morphology 2/20
HP: 0031594 PR segment depression 2/20
HP: 0031596 Abnormal PR segment 2/20
HP: 0031652 Abnormal aortic valve physiology 2/20
HP: 0031653 Abnormal heart valve physiology 2/20
HP: 0031676 Monomorphic ventricular tachycardia 2/20
HP: 0031678 Atherosclerotic lesion 2/20
HP: 0031816 Abnormal oral morphology 1/20
HP: 0031828 Abnormal superficial reflex 2/20
HP: 0031917 Digital ulcer 2/20
HP: 0031992 Apical hypertrophic cardiomyopathy 2/20
HP: 0031998 Late inspiratory crackles 1/20
HP: 0032101 Unusual infection 1/20
HP: 0032148 Episodic pain 1/20
HP: 0032180 Abnormal circulating metabolite concentration 2/20
HP: 0032245 Abnormal metabolism 1/20
HP: 0032251 Abnormal immune system morphology 2/20
HP: 0032263 Increased blood pressure 2/20
HP: 0040081 Abnormal circulating creatine kinase concentration 1/20
HP: 0040084 Abnormal circulating renin 2/20
HP: 0045080 Decreased proportion of CD3-positive T cells 1/20
HP: 0100022 Abnormality of movement 2/20
HP: 0100276 Skin pit 1/20
HP: 0100545 Arterial stenosis 2/20
HP: 0100546 Carotid artery stenosis 2/20
HP: 0100547 Abnormality of forebrain morphology 1/20
HP: 0100601 Eclampsia 1/20
HP: 0100603 Toxemia of pregnancy 1/20
HP: 0100659 Abnormality of the cerebral vasculature 3/20
HP: 0100749 Chest pain 2/20
HP: 0100758 Gangrene 2/20
HP: 0100763 Abnormality of the lymphatic system 2/20
HP: 0100817 Renovascular hypertension 2/20
HP: 0100872 Abnormality of the plantar skin of foot 2/20
HP: 0200042 Skin ulcer 2/20
HP: 0500015 Abnormal cardiac test 2/20
HP: 0500049 Retinopathy of prematurity 1/20
HP: 0500106 Isolated systolic hypertension 2/20
HP: 0500135 Hypotryptophanemia 2/20