Diseases of the nervous system

Chapter6

Case/Control GWAS

GWAS of Chapter6

Statistics

Case Control
52479 407727

Top SNP Information

Associated Phenotypes

ID Name Top Correlation
HP: 0000008 Abnormal morphology of female internal genitalia 1/20
HP: 0000009 Functional abnormality of the bladder 4/20
HP: 0000011 Neurogenic bladder 1/20
HP: 0000014 Abnormality of the bladder 3/20
HP: 0000032 Abnormality of male external genitalia 3/20
HP: 0000095 Abnormality of renal glomerulus morphology 2/20
HP: 0000118 Phenotypic abnormality 5/20
HP: 0000137 Abnormality of the ovary 1/20
HP: 0000138 Ovarian cyst 2/20
HP: 0000152 Abnormality of head or neck 5/20
HP: 0000153 Abnormality of the mouth 1/20
HP: 0000159 Abnormal lip morphology 2/20
HP: 0000163 Abnormal oral cavity morphology 1/20
HP: 0000234 Abnormality of the head 5/20
HP: 0000240 Abnormality of skull size 2/20
HP: 0000252 Microcephaly 2/20
HP: 0000271 Abnormality of the face 1/20
HP: 0000282 Facial edema 4/20
HP: 0000290 Abnormality of the forehead 2/20
HP: 0000359 Abnormality of the inner ear 3/20
HP: 0000364 Hearing abnormality 2/20
HP: 0000365 Hearing impairment 2/20
HP: 0000370 Abnormality of the middle ear 2/20
HP: 0000405 Conductive hearing impairment 2/20
HP: 0000407 Sensorineural hearing impairment 2/20
HP: 0000464 Abnormality of the neck 1/20
HP: 0000486 Strabismus 3/20
HP: 0000492 Abnormal eyelid morphology 2/20
HP: 0000496 Abnormality of eye movement 2/20
HP: 0000504 Abnormality of vision 3/20
HP: 0000505 Visual impairment 4/20
HP: 0000549 Abnormal conjugate eye movement 3/20
HP: 0000570 Abnormal saccadic eye movements 2/20
HP: 0000598 Abnormality of the ear 3/20
HP: 0000606 Abnormality of the periorbital region 3/20
HP: 0000610 Abnormal choroid morphology 2/20
HP: 0000617 Abnormality of ocular smooth pursuit 2/20
HP: 0000640 Gaze-evoked nystagmus 2/20
HP: 0000707 Abnormality of the nervous system 3/20
HP: 0000708 Behavioral abnormality 1/20
HP: 0000716 Depressivity 1/20
HP: 0000729 Autistic behavior 2/20
HP: 0000735 Impaired social interactions 2/20
HP: 0000739 Anxiety 1/20
HP: 0000764 Peripheral axonal degeneration 4/20
HP: 0000775 Abnormality of the diaphragm 3/20
HP: 0000811 Abnormal external genitalia 6/20
HP: 0000858 Irregular menstruation 2/20
HP: 0000924 Abnormality of the skeletal system 5/20
HP: 0000925 Abnormality of the vertebral column 1/20
HP: 0000926 Platyspondyly 2/20
HP: 0000929 Abnormal skull morphology 3/20
HP: 0000939 Osteoporosis 2/20
HP: 0000940 Abnormal diaphysis morphology 5/20
HP: 0000944 Abnormality of the metaphysis 2/20
HP: 0000951 Abnormality of the skin 1/20
HP: 0000964 Eczema 2/20
HP: 0000988 Skin rash 4/20
HP: 0001000 Abnormality of skin pigmentation 2/20
HP: 0001009 Telangiectasia 2/20
HP: 0001055 Erysipelas 3/20
HP: 0001072 Thickened skin 1/20
HP: 0001133 Constriction of peripheral visual field 2/20
HP: 0001152 Saccadic smooth pursuit 2/20
HP: 0001153 Septate vagina 2/20
HP: 0001155 Abnormality of the hand 3/20
HP: 0001159 Syndactyly 2/20
HP: 0001167 Abnormality of finger 3/20
HP: 0001194 Abnormalities of placenta or umbilical cord 2/20
HP: 0001197 Abnormality of prenatal development or birth 2/20
HP: 0001257 Spasticity 5/20
HP: 0001276 Hypertonia 6/20
HP: 0001279 Syncope 2/20
HP: 0001287 Meningitis 2/20
HP: 0001288 Gait disturbance 1/20
HP: 0001289 Confusion 2/20
HP: 0001298 Encephalopathy 3/20
HP: 0001300 Parkinsonism 1/20
HP: 0001311 Abnormal nervous system electrophysiology 2/20
HP: 0001324 Muscle weakness 3/20
HP: 0001349 Facial diplegia 1/20
HP: 0001367 Abnormal joint morphology 5/20
HP: 0001369 Arthritis 5/20
HP: 0001371 Flexion contracture 2/20
HP: 0001373 Joint dislocation 6/20
HP: 0001376 Limitation of joint mobility 2/20
HP: 0001384 Abnormality of the hip joint 2/20
HP: 0001387 Joint stiffness 2/20
HP: 0001397 Hepatic steatosis 1/20
HP: 0001405 Periportal fibrosis 1/20
HP: 0001421 Abnormality of the musculature of the hand 1/20
HP: 0001438 Abnormality of abdomen morphology 2/20
HP: 0001446 Abnormality of the musculature of the upper limbs 3/20
HP: 0001574 Abnormality of the integument 1/20
HP: 0001581 Recurrent skin infections 1/20
HP: 0001595 Abnormal hair morphology 2/20
HP: 0001626 Abnormality of the cardiovascular system 4/20
HP: 0001649 Tachycardia 2/20
HP: 0001662 Bradycardia 2/20
HP: 0001679 Abnormal aortic morphology 4/20
HP: 0001760 Abnormality of the foot 3/20
HP: 0001780 Abnormality of toe 4/20
HP: 0001850 Abnormality of the tarsal bones 2/20
HP: 0001881 Abnormal leukocyte morphology 1/20
HP: 0001907 Thromboembolism 1/20
HP: 0001965 Abnormality of the scalp 3/20
HP: 0001977 Abnormal thrombosis 2/20
HP: 0001999 Abnormal facial shape 4/20
HP: 0002011 Morphological central nervous system abnormality 5/20
HP: 0002012 Abnormality of the abdominal organs 1/20
HP: 0002013 Vomiting 2/20
HP: 0002017 Nausea and vomiting 2/20
HP: 0002060 Abnormal cerebral morphology 3/20
HP: 0002063 Rigidity 1/20
HP: 0002064 Spastic gait 1/20
HP: 0002086 Abnormality of the respiratory system 5/20
HP: 0002087 Abnormality of the upper respiratory tract 2/20
HP: 0002088 Abnormal lung morphology 6/20
HP: 0002093 Respiratory insufficiency 1/20
HP: 0002103 Abnormality of the pleura 1/20
HP: 0002107 Pneumothorax 3/20
HP: 0002121 Generalized non-motor (absence) seizure 1/20
HP: 0002143 Abnormality of the spinal cord 1/20
HP: 0002172 Postural instability 2/20
HP: 0002176 Spinal cord compression 1/20
HP: 0002197 Generalized-onset seizure 1/20
HP: 0002311 Incoordination 2/20
HP: 0002322 Resting tremor 1/20
HP: 0002353 EEG abnormality 2/20
HP: 0002359 Frequent falls 2/20
HP: 0002363 Abnormality of brainstem morphology 2/20
HP: 0002365 Hypoplasia of the brainstem 2/20
HP: 0002376 Developmental regression 2/20
HP: 0002384 Focal impaired awareness seizure 2/20
HP: 0002493 Upper motor neuron dysfunction 5/20
HP: 0002505 Progressive inability to walk 2/20
HP: 0002524 Cataplexy 1/20
HP: 0002538 Abnormality of the cerebral cortex 2/20
HP: 0002539 Cortical dysplasia 2/20
HP: 0002577 Abnormality of the stomach 2/20
HP: 0002597 Abnormality of the vasculature 4/20
HP: 0002621 Atherosclerosis 1/20
HP: 0002624 Abnormal venous morphology 2/20
HP: 0002634 Arteriosclerosis 1/20
HP: 0002644 Abnormality of pelvic girdle bone morphology 3/20
HP: 0002648 Abnormality of calvarial morphology 1/20
HP: 0002659 Increased susceptibility to fractures 1/20
HP: 0002664 Neoplasm 1/20
HP: 0002683 Abnormality of the calvaria 2/20
HP: 0002715 Abnormality of the immune system 4/20
HP: 0002754 Osteomyelitis 2/20
HP: 0002758 Osteoarthritis 4/20
HP: 0002763 Abnormal cartilage morphology 4/20
HP: 0002783 Recurrent lower respiratory tract infections 2/20
HP: 0002793 Abnormal pattern of respiration 2/20
HP: 0002813 Abnormality of limb bone morphology 5/20
HP: 0002814 Abnormality of the lower limb 5/20
HP: 0002817 Abnormality of the upper limb 5/20
HP: 0002821 Neuropathic arthropathy 3/20
HP: 0002823 Abnormality of femur morphology 3/20
HP: 0002883 Hyperventilation 2/20
HP: 0002955 Granulomatosis 2/20
HP: 0002960 Autoimmunity 2/20
HP: 0002973 Abnormality of the forearm 2/20
HP: 0002981 Abnormality of the calf 2/20
HP: 0002991 Abnormality of fibula morphology 2/20
HP: 0003011 Abnormality of the musculature 3/20
HP: 0003028 Abnormality of the ankles 2/20
HP: 0003040 Arthropathy 3/20
HP: 0003121 Limb joint contracture 2/20
HP: 0003128 Lactic acidosis 1/20
HP: 0003207 Arterial calcification 1/20
HP: 0003272 Abnormality of the hip bone 3/20
HP: 0003319 Abnormality of the cervical spine 3/20
HP: 0003330 Abnormal bone structure 10/20
HP: 0003366 Abnormality of the femoral neck or head region 4/20
HP: 0003367 Abnormality of the femoral neck 1/20
HP: 0003368 Abnormality of the femoral head 4/20
HP: 0003457 EMG abnormality 1/20
HP: 0003477 Peripheral axonal neuropathy 4/20
HP: 0003487 Babinski sign 1/20
HP: 0003549 Abnormality of connective tissue 4/20
HP: 0003552 Muscle stiffness 1/20
HP: 0003808 Abnormal muscle tone 6/20
HP: 0004302 Functional motor deficit 2/20
HP: 0004311 Abnormal macrophage morphology 2/20
HP: 0004328 Abnormal anterior eye segment morphology 1/20
HP: 0004348 Abnormality of bone mineral density 1/20
HP: 0004372 Reduced consciousness/confusion 1/20
HP: 0004418 Thrombophlebitis 2/20
HP: 0004447 Poikilocytosis 1/20
HP: 0004879 Intermittent hyperventilation 2/20
HP: 0004934 Vascular calcification 1/20
HP: 0004936 Venous thrombosis 2/20
HP: 0005162 Left ventricular dysfunction 1/20
HP: 0005262 Abnormality of the synovia 4/20
HP: 0005344 Abnormal carotid artery morphology 2/20
HP: 0005484 Postnatal microcephaly 2/20
HP: 0005607 Abnormal tracheobronchial morphology 2/20
HP: 0005622 Broad long bones 2/20
HP: 0005645 Intervertebral disk calcification 8/20
HP: 0005682 Talocalcaneal synostosis 2/20
HP: 0005750 Contractures of the joints of the lower limbs 2/20
HP: 0005830 Flexion contracture of toe 2/20
HP: 0005922 Abnormal hand morphology 3/20
HP: 0005930 Abnormality of epiphysis morphology 10/20
HP: 0006101 Finger syndactyly 2/20
HP: 0006489 Abnormality of the femoral metaphysis 1/20
HP: 0006490 Abnormality of lower-limb metaphyses 1/20
HP: 0006493 Aplasia/hypoplasia involving bones of the lower limbs 2/20
HP: 0006494 Aplasia/Hypoplasia involving bones of the feet 2/20
HP: 0006499 Abnormality of femoral epiphysis 3/20
HP: 0006500 Abnormality of lower limb epiphysis morphology 3/20
HP: 0006504 obsolete Anomaly of the limb diaphyses morphology 2/20
HP: 0006505 Abnormality of limb epiphysis morphology 4/20
HP: 0006561 Lipid accumulation in hepatocytes 1/20
HP: 0006824 Cranial nerve paralysis 1/20
HP: 0007002 Motor axonal neuropathy 4/20
HP: 0007302 Bipolar affective disorder 4/20
HP: 0007362 Aplasia/Hypoplasia of the brainstem 2/20
HP: 0007364 Aplasia/Hypoplasia of the cerebrum 2/20
HP: 0008366 Contractures involving the joints of the feet 3/20
HP: 0008368 Tarsal synostosis 2/20
HP: 0008438 Vertebral arch anomaly 4/20
HP: 0008480 Cervical spondylosis 3/20
HP: 0008740 Longitudinal vaginal septum 2/20
HP: 0009103 Aplasia/Hypoplasia involving the pelvis 2/20
HP: 0009115 Aplasia/hypoplasia involving the skeleton 3/20
HP: 0009121 Abnormal axial skeleton morphology 5/20
HP: 0009127 Abnormality of the musculature of the limbs 1/20
HP: 0009131 Abnormality of the musculature of the thorax 3/20
HP: 0009138 Synostosis involving bones of the lower limbs 2/20
HP: 0009140 Synostosis involving bones of the feet 2/20
HP: 0009473 Joint contracture of the hand 2/20
HP: 0009810 Abnormality of upper limb joint 2/20
HP: 0009811 Abnormality of the elbow 2/20
HP: 0009815 Aplasia/hypoplasia of the extremities 2/20
HP: 0009830 Peripheral neuropathy 5/20
HP: 0009926 Epiphora 2/20
HP: 0010303 Abnormal spinal meningeal morphology 3/20
HP: 0010461 Abnormality of the male genitalia 5/20
HP: 0010628 Facial palsy 1/20
HP: 0010651 Abnormal meningeal morphology 4/20
HP: 0010720 Abnormal hair pattern 2/20
HP: 0010726 Prominent corneal nerve fibers 1/20
HP: 0010766 Ectopic calcification 4/20
HP: 0010777 Bronchomegaly 2/20
HP: 0010787 Genital neoplasm 2/20
HP: 0010827 Abnormality of the seventh cranial nerve 1/20
HP: 0010881 Abnormality of the umbilical cord 1/20
HP: 0010885 Avascular necrosis 5/20
HP: 0010936 Abnormality of the lower urinary tract 3/20
HP: 0010978 Abnormality of immune system physiology 4/20
HP: 0010987 Abnormal cellular immune system morphology 1/20
HP: 0010995 Abnormal circulating dicarboxylic acid concentration 2/20
HP: 0011001 Increased bone mineral density 4/20
HP: 0011004 Abnormal systemic arterial morphology 2/20
HP: 0011006 Abnormal morphology of the musculature of the neck 1/20
HP: 0011014 Abnormal glucose homeostasis 2/20
HP: 0011015 Abnormal blood glucose concentration 1/20
HP: 0011024 Abnormality of the gastrointestinal tract 4/20
HP: 0011025 Abnormal cardiovascular system physiology 1/20
HP: 0011028 Abnormality of blood circulation 2/20
HP: 0011029 Internal hemorrhage 2/20
HP: 0011035 Abnormal renal cortex morphology 1/20
HP: 0011121 Abnormality of skin morphology 4/20
HP: 0011122 Abnormality of skin physiology 4/20
HP: 0011123 Inflammatory abnormality of the skin 5/20
HP: 0011138 Abnormality of skin adnexa morphology 2/20
HP: 0011182 Interictal epileptiform activity 2/20
HP: 0011198 EEG with generalized epileptiform discharges 2/20
HP: 0011276 Vascular skin abnormality 4/20
HP: 0011297 Abnormal digit morphology 4/20
HP: 0011314 Abnormality of long bone morphology 5/20
HP: 0011329 Abnormality of cranial sutures 2/20
HP: 0011354 Generalized abnormality of skin 3/20
HP: 0011355 Localized skin lesion 2/20
HP: 0011360 Acquired abnormal hair pattern 3/20
HP: 0011361 Congenital abnormal hair pattern 2/20
HP: 0011389 Functional abnormality of the inner ear 3/20
HP: 0011440 Alcohol-induced rhabdomyolysis 1/20
HP: 0011442 Abnormal central motor function 3/20
HP: 0011452 Functional abnormality of the middle ear 2/20
HP: 0011675 Arrhythmia 2/20
HP: 0011729 Abnormality of joint mobility 2/20
HP: 0011793 Neoplasm by anatomical site 1/20
HP: 0011799 Abnormality of facial soft tissue 5/20
HP: 0011805 Abnormal skeletal muscle morphology 5/20
HP: 0011842 Abnormality of skeletal morphology 5/20
HP: 0011843 Abnormality of skeletal physiology 3/20
HP: 0011844 Abnormal appendicular skeleton morphology 5/20
HP: 0011849 Abnormal bone ossification 5/20
HP: 0011893 Abnormal leukocyte count 1/20
HP: 0011915 Cardiovascular calcification 1/20
HP: 0011947 Respiratory tract infection 1/20
HP: 0012124 Intermediate uveitis 2/20
HP: 0012210 Abnormal renal morphology 3/20
HP: 0012219 Erythema nodosum 1/20
HP: 0012252 Abnormal respiratory system morphology 6/20
HP: 0012433 Abnormal social behavior 2/20
HP: 0012443 Abnormality of brain morphology 5/20
HP: 0012452 Restless legs 2/20
HP: 0012459 Hypnic headache 1/20
HP: 0012474 Carotid artery occlusion 1/20
HP: 0012480 Abnormality of cerebral veins 1/20
HP: 0012492 Cerebral artery stenosis 3/20
HP: 0012493 Middle cerebral artery stenosis 1/20
HP: 0012531 Pain 4/20
HP: 0012638 Abnormal nervous system physiology 1/20
HP: 0012639 Abnormal nervous system morphology 4/20
HP: 0012647 Abnormal inflammatory response 4/20
HP: 0012649 Increased inflammatory response 4/20
HP: 0012718 Morphological abnormality of the gastrointestinal tract 4/20
HP: 0012719 Functional abnormality of the gastrointestinal tract 3/20
HP: 0012725 Cutaneous syndactyly 2/20
HP: 0012759 Neurodevelopmental abnormality 4/20
HP: 0012893 Neck muscle hypertrophy 2/20
HP: 0020108 Unusual parasitic infection 1/20
HP: 0025015 Abnormal vascular morphology 4/20
HP: 0025031 Abnormality of the digestive system 2/20
HP: 0025032 Abnormality of digestive system physiology 1/20
HP: 0025033 Abnormality of digestive system morphology 1/20
HP: 0025142 Constitutional symptom 5/20
HP: 0025155 Abnormality of hepatobiliary system physiology 2/20
HP: 0025259 Stiff elbow 1/20
HP: 0025270 Abnormality of esophagus physiology 3/20
HP: 0025373 Interictal EEG abnormality 2/20
HP: 0025426 Abnormal bronchus morphology 2/20
HP: 0025487 Abnormality of bladder morphology 3/20
HP: 0025615 Abscess 1/20
HP: 0030014 Female sexual dysfunction 1/20
HP: 0030044 Flexion contracture of digit 2/20
HP: 0030178 Abnormality of central nervous system electrophysiology 2/20
HP: 0030218 Punding 1/20
HP: 0030237 Hand muscle weakness 1/20
HP: 0030310 Upper extremity joint dislocation 8/20
HP: 0030319 Weakness of facial musculature 1/20
HP: 0030526 Severe constriction of peripheral visual field 2/20
HP: 0030680 Abnormality of cardiovascular system morphology 2/20
HP: 0030713 Vein of Galen aneurysmal malformation 1/20
HP: 0030766 Ear pain 2/20
HP: 0030831 Rhonchi 1/20
HP: 0030883 Femoroacetabular impingement 2/20
HP: 0030885 Recurrent parasitic infections 1/20
HP: 0030907 Thunderclap headache 1/20
HP: 0030956 Abnormality of cardiovascular system electrophysiology 5/20
HP: 0030962 Abnormal morphology of the great vessels 2/20
HP: 0031058 Impairment of activities of daily living 3/20
HP: 0031064 Impaired continence 3/20
HP: 0031065 Abnormal ovarian morphology 2/20
HP: 0031137 Storage in hepatocytes 1/20
HP: 0031258 Delirium 2/20
HP: 0031263 Abnormal renal corpuscle morphology 2/20
HP: 0031466 Impairment in personality functioning 1/20
HP: 0031703 Abnormal ear morphology 3/20
HP: 0031704 Abnormal ear physiology 3/20
HP: 0031816 Abnormal oral morphology 1/20
HP: 0031825 Freezing of gait 2/20
HP: 0031828 Abnormal superficial reflex 2/20
HP: 0031860 Abnormal heart rate variability 2/20
HP: 0031861 Decreased heart rate variability 2/20
HP: 0031957 Spastic hemiparetic gait 1/20
HP: 0032012 Heterotropia 3/20
HP: 0032046 Focal cortical dysplasia 2/20
HP: 0032251 Abnormal immune system morphology 1/20
HP: 0032368 Acidemia 2/20
HP: 0032510 Tendon pain 1/20
HP: 0040064 Abnormality of limbs 5/20
HP: 0040068 Abnormality of limb bone 5/20
HP: 0040069 Abnormal lower limb bone morphology 4/20
HP: 0040070 Abnormal upper limb bone morphology 4/20
HP: 0040195 Decreased head circumference 2/20
HP: 0045060 Aplasia/hypoplasia involving bones of the extremities 2/20
HP: 0100008 Schwannoma 1/20
HP: 0100021 Cerebral palsy 2/20
HP: 0100022 Abnormality of movement 6/20
HP: 0100026 Arteriovenous malformation 2/20
HP: 0100037 Abnormality of the scalp hair 2/20
HP: 0100240 Synostosis of joints 3/20
HP: 0100261 Abnormal tendon morphology 3/20
HP: 0100266 Synostosis of carpals/tarsals 2/20
HP: 0100313 Cerebral granulomatosis 2/20
HP: 0100314 Cerebral inclusion bodies 1/20
HP: 0100315 Lewy bodies 1/20
HP: 0100323 Juvenile aseptic necrosis 5/20
HP: 0100360 Contractures of the joints of the upper limbs 2/20
HP: 0100491 Abnormality of lower limb joint 4/20
HP: 0100492 Joint contractures involving the joints of the feet 2/20
HP: 0100539 Periorbital edema 3/20
HP: 0100545 Arterial stenosis 1/20
HP: 0100546 Carotid artery stenosis 2/20
HP: 0100547 Abnormality of forebrain morphology 2/20
HP: 0100555 Asymmetric growth 2/20
HP: 0100568 Neoplasm of the endocrine system 2/20
HP: 0100576 Amaurosis fugax 1/20
HP: 0100593 Calcification of cartilage 9/20
HP: 0100634 Neuroendocrine neoplasm 1/20
HP: 0100646 Thyroiditis 1/20
HP: 0100658 Cellulitis 3/20
HP: 0100704 Cerebral visual impairment 2/20
HP: 0100705 Abnormality of the glial cells 1/20
HP: 0100754 Mania 4/20
HP: 0100763 Abnormality of the lymphatic system 1/20
HP: 0100786 Hypersomnia 5/20
HP: 0100851 Abnormal emotion/affect behavior 5/20
HP: 0100852 Abnormal fear/anxiety-related behavior 6/20
HP: 0200034 Papule 1/20
HP: 0410019 Epigastric pain 2/20