Endocrine, nutritional and metabolic diseases

Chapter4

Case/Control GWAS

GWAS of Chapter4

Statistics

Case Control
99225 360981

Top SNP Information

Associated Phenotypes

ID Name Top Correlation
HP: 0000014 Abnormality of the bladder 2/20
HP: 0000015 Bladder diverticulum 2/20
HP: 0000022 Abnormality of male internal genitalia 1/20
HP: 0000032 Abnormality of male external genitalia 3/20
HP: 0000077 Abnormality of the kidney 3/20
HP: 0000078 Abnormality of the genital system 1/20
HP: 0000079 Abnormality of the urinary system 1/20
HP: 0000083 Renal insufficiency 10/20
HP: 0000093 Proteinuria 11/20
HP: 0000112 Nephropathy 11/20
HP: 0000118 Phenotypic abnormality 1/20
HP: 0000119 Abnormality of the genitourinary system 2/20
HP: 0000124 Renal tubular dysfunction 1/20
HP: 0000157 Abnormality of the tongue 6/20
HP: 0000159 Abnormal lip morphology 2/20
HP: 0000168 Abnormality of the gingiva 2/20
HP: 0000230 Gingivitis 3/20
HP: 0000286 Epicanthus 1/20
HP: 0000479 Abnormal retinal morphology 1/20
HP: 0000488 Retinopathy 8/20
HP: 0000492 Abnormal eyelid morphology 3/20
HP: 0000496 Abnormality of eye movement 2/20
HP: 0000509 Conjunctivitis 5/20
HP: 0000517 Abnormality of the lens 10/20
HP: 0000518 Cataract 10/20
HP: 0000519 Developmental cataract 9/20
HP: 0000537 Epicanthus inversus 1/20
HP: 0000546 Retinal degeneration 2/20
HP: 0000549 Abnormal conjugate eye movement 5/20
HP: 0000593 Abnormal anterior chamber morphology 10/20
HP: 0000606 Abnormality of the periorbital region 5/20
HP: 0000729 Autistic behavior 2/20
HP: 0000735 Impaired social interactions 2/20
HP: 0000736 Short attention span 7/20
HP: 0000742 Self-mutilation 1/20
HP: 0000752 Hyperactivity 7/20
HP: 0000756 Agoraphobia 3/20
HP: 0000765 Abnormality of the thorax 1/20
HP: 0000811 Abnormal external genitalia 3/20
HP: 0000828 Abnormality of the parathyroid gland 4/20
HP: 0000831 Insulin-resistant diabetes mellitus 4/20
HP: 0000843 Hyperparathyroidism 7/20
HP: 0000847 Abnormality of renin-angiotensin system 2/20
HP: 0000855 Insulin resistance 5/20
HP: 0000857 Neonatal insulin-dependent diabetes mellitus 3/20
HP: 0000864 Abnormality of the hypothalamus-pituitary axis 2/20
HP: 0000867 Secondary hyperparathyroidism 9/20
HP: 0000944 Abnormality of the metaphysis 2/20
HP: 0000952 Jaundice 3/20
HP: 0000953 Hyperpigmentation of the skin 1/20
HP: 0000958 Dry skin 2/20
HP: 0000961 Cyanosis 1/20
HP: 0000964 Eczema 5/20
HP: 0000988 Skin rash 7/20
HP: 0000995 Melanocytic nevus 3/20
HP: 0001000 Abnormality of skin pigmentation 6/20
HP: 0001009 Telangiectasia 7/20
HP: 0001010 Hypopigmentation of the skin 7/20
HP: 0001028 Hemangioma 1/20
HP: 0001063 Acrocyanosis 1/20
HP: 0001098 Abnormal fundus morphology 1/20
HP: 0001155 Abnormality of the hand 4/20
HP: 0001167 Abnormality of finger 4/20
HP: 0001172 Abnormal thumb morphology 1/20
HP: 0001197 Abnormality of prenatal development or birth 1/20
HP: 0001231 Abnormal fingernail morphology 7/20
HP: 0001252 Muscular hypotonia 2/20
HP: 0001264 Spastic diplegia 1/20
HP: 0001278 Orthostatic hypotension 1/20
HP: 0001289 Confusion 4/20
HP: 0001311 Abnormal nervous system electrophysiology 3/20
HP: 0001337 Tremor 3/20
HP: 0001347 Hyperreflexia 1/20
HP: 0001367 Abnormal joint morphology 2/20
HP: 0001369 Arthritis 5/20
HP: 0001396 Cholestasis 1/20
HP: 0001510 Growth delay 1/20
HP: 0001511 Intrauterine growth retardation 2/20
HP: 0001518 Small for gestational age 4/20
HP: 0001595 Abnormal hair morphology 5/20
HP: 0001600 Abnormality of the larynx 1/20
HP: 0001609 Hoarse voice 1/20
HP: 0001627 Abnormal heart morphology 3/20
HP: 0001637 Abnormal myocardium morphology 3/20
HP: 0001638 Cardiomyopathy 4/20
HP: 0001639 Hypertrophic cardiomyopathy 3/20
HP: 0001760 Abnormality of the foot 2/20
HP: 0001889 Megaloblastic anemia 1/20
HP: 0001891 Iron deficiency anemia 5/20
HP: 0001931 Hypochromic anemia 5/20
HP: 0001935 Microcytic anemia 8/20
HP: 0001939 Abnormality of metabolism/homeostasis 2/20
HP: 0001941 Acidosis 2/20
HP: 0001943 Hypoglycemia 4/20
HP: 0001947 Renal tubular acidosis 1/20
HP: 0001952 Glucose intolerance 10/20
HP: 0001972 Macrocytic anemia 1/20
HP: 0001977 Abnormal thrombosis 2/20
HP: 0001998 Neonatal hypoglycemia 7/20
HP: 0001999 Abnormal facial shape 2/20
HP: 0002011 Morphological central nervous system abnormality 2/20
HP: 0002013 Vomiting 5/20
HP: 0002014 Diarrhea 2/20
HP: 0002017 Nausea and vomiting 5/20
HP: 0002087 Abnormality of the upper respiratory tract 5/20
HP: 0002107 Pneumothorax 4/20
HP: 0002110 Bronchiectasis 2/20
HP: 0002123 Generalized myoclonic seizure 1/20
HP: 0002155 Hypertriglyceridemia 2/20
HP: 0002169 Clonus 3/20
HP: 0002170 Intracranial hemorrhage 1/20
HP: 0002202 Pleural effusion 1/20
HP: 0002242 Abnormal intestine morphology 2/20
HP: 0002244 Abnormality of the small intestine 2/20
HP: 0002353 EEG abnormality 5/20
HP: 0002360 Sleep disturbance 15/20
HP: 0002644 Abnormality of pelvic girdle bone morphology 5/20
HP: 0002664 Neoplasm 2/20
HP: 0002686 Prenatal maternal abnormality 2/20
HP: 0002748 Rickets 12/20
HP: 0002749 Osteomalacia 9/20
HP: 0002781 Upper airway obstruction 2/20
HP: 0002813 Abnormality of limb bone morphology 3/20
HP: 0002814 Abnormality of the lower limb 5/20
HP: 0002815 Abnormality of the knee 2/20
HP: 0002817 Abnormality of the upper limb 5/20
HP: 0002893 Pituitary adenoma 7/20
HP: 0002912 Methylmalonic acidemia 3/20
HP: 0002919 Ketonuria 1/20
HP: 0002979 Bowing of the legs 1/20
HP: 0002981 Abnormality of the calf 2/20
HP: 0003019 Abnormality of the wrist 4/20
HP: 0003026 Short long bone 5/20
HP: 0003037 Enlarged joints 5/20
HP: 0003074 Hyperglycemia 1/20
HP: 0003077 Hyperlipidemia 2/20
HP: 0003107 Abnormal circulating cholesterol concentration 2/20
HP: 0003110 Abnormality of urine homeostasis 4/20
HP: 0003119 Abnormal circulating lipid concentration 2/20
HP: 0003124 Hypercholesterolemia 4/20
HP: 0003228 Hypernatremia 1/20
HP: 0003270 Abdominal distention 3/20
HP: 0003272 Abnormality of the hip bone 4/20
HP: 0003351 Decreased circulating renin level 2/20
HP: 0003549 Abnormality of connective tissue 2/20
HP: 0003764 Nevus 2/20
HP: 0003774 Stage 5 chronic kidney disease 5/20
HP: 0004097 Deviation of finger 1/20
HP: 0004302 Functional motor deficit 1/20
HP: 0004324 Increased body weight 1/20
HP: 0004327 Abnormal vitreous humor morphology 4/20
HP: 0004328 Abnormal anterior eye segment morphology 9/20
HP: 0004329 Abnormal posterior eye segment morphology 1/20
HP: 0004340 Abnormality of vitamin B metabolism 3/20
HP: 0004341 Abnormality of vitamin B12 metabolism 2/20
HP: 0004360 Abnormality of acid-base homeostasis 1/20
HP: 0004364 Abnormal circulating nitrogen compound concentration 3/20
HP: 0004370 Abnormality of temperature regulation 5/20
HP: 0004372 Reduced consciousness/confusion 4/20
HP: 0004378 Abnormality of the anus 2/20
HP: 0004418 Thrombophlebitis 2/20
HP: 0004469 Chronic bronchitis 2/20
HP: 0004798 Recurrent infection of the gastrointestinal tract 5/20
HP: 0004900 Severe lactic acidosis 3/20
HP: 0004904 Maturity-onset diabetes of the young 11/20
HP: 0004905 Low levels of vitamin A 11/20
HP: 0004924 Abnormal oral glucose tolerance 8/20
HP: 0004936 Venous thrombosis 2/20
HP: 0005202 Helicobacter pylori infection 5/20
HP: 0005208 Secretory diarrhea 1/20
HP: 0005607 Abnormal tracheobronchial morphology 5/20
HP: 0005622 Broad long bones 1/20
HP: 0005918 Abnormal finger phalanx morphology 5/20
HP: 0005922 Abnormal hand morphology 4/20
HP: 0005972 Respiratory acidosis 4/20
HP: 0005978 Type II diabetes mellitus 10/20
HP: 0006279 Beta-cell dysfunction 11/20
HP: 0006476 Abnormality of the pancreatic islet cells 9/20
HP: 0006487 Bowing of the long bones 1/20
HP: 0006573 Acute hepatic steatosis 2/20
HP: 0006753 Neoplasm of the stomach 2/20
HP: 0006846 Acute encephalopathy 1/20
HP: 0006919 Abnormal aggressive, impulsive or violent behavior 2/20
HP: 0007018 Attention deficit hyperactivity disorder 7/20
HP: 0007023 Antenatal intracerebral hemorrhage 1/20
HP: 0007359 Focal-onset seizure 1/20
HP: 0007378 Neoplasm of the gastrointestinal tract 2/20
HP: 0007400 Irregular hyperpigmentation 1/20
HP: 0007513 Generalized hypopigmentation 7/20
HP: 0007609 Hypoproteinemic edema 1/20
HP: 0007663 Reduced visual acuity 2/20
HP: 0007700 Ocular anterior segment dysgenesis 10/20
HP: 0007962 Speckled corneal dystrophy 1/20
HP: 0008046 Abnormal retinal vascular morphology 6/20
HP: 0008047 Abnormality of the vasculature of the eye 8/20
HP: 0008058 Aplasia/Hypoplasia of the optic nerve 1/20
HP: 0008069 Neoplasm of the skin 4/20
HP: 0008070 Sparse hair 1/20
HP: 0008071 Maternal hypertension 2/20
HP: 0008188 Thyroid dysgenesis 1/20
HP: 0008255 Transient neonatal diabetes mellitus 3/20
HP: 0008279 Transient hyperlipidemia 2/20
HP: 0008372 Abnormality of vitamin A metabolism 11/20
HP: 0008391 Dystrophic fingernails 7/20
HP: 0008404 Nail dystrophy 7/20
HP: 0009115 Aplasia/hypoplasia involving the skeleton 2/20
HP: 0009484 Deviation of the hand or of fingers of the hand 1/20
HP: 0009800 Maternal diabetes 5/20
HP: 0009810 Abnormality of upper limb joint 5/20
HP: 0009815 Aplasia/hypoplasia of the extremities 4/20
HP: 0009887 Abnormality of hair pigmentation 7/20
HP: 0010280 Stomatitis 1/20
HP: 0010461 Abnormality of the male genitalia 3/20
HP: 0010588 Premature epimetaphyseal fusion 3/20
HP: 0010609 Skin tags 3/20
HP: 0010935 Abnormality of the upper urinary tract 3/20
HP: 0010936 Abnormality of the lower urinary tract 3/20
HP: 0010972 Anemia of inadequate production 4/20
HP: 0010979 Abnormality of lipoprotein cholesterol concentration 2/20
HP: 0010980 Hyperlipoproteinemia 3/20
HP: 0010995 Abnormal circulating dicarboxylic acid concentration 3/20
HP: 0011014 Abnormal glucose homeostasis 9/20
HP: 0011015 Abnormal blood glucose concentration 3/20
HP: 0011028 Abnormality of blood circulation 2/20
HP: 0011029 Internal hemorrhage 2/20
HP: 0011036 Abnormality of renal excretion 1/20
HP: 0011037 Decreased urine output 2/20
HP: 0011121 Abnormality of skin morphology 3/20
HP: 0011122 Abnormality of skin physiology 2/20
HP: 0011123 Inflammatory abnormality of the skin 2/20
HP: 0011138 Abnormality of skin adnexa morphology 5/20
HP: 0011170 Generalized myoclonic-atonic seizure 1/20
HP: 0011182 Interictal epileptiform activity 5/20
HP: 0011198 EEG with generalized epileptiform discharges 5/20
HP: 0011276 Vascular skin abnormality 2/20
HP: 0011277 Abnormality of the urinary system physiology 2/20
HP: 0011297 Abnormal digit morphology 5/20
HP: 0011355 Localized skin lesion 3/20
HP: 0011357 obsolete Abnormality of hair density 1/20
HP: 0011423 Hyperchloremia 1/20
HP: 0011436 Abnormal maternal serum screening 4/20
HP: 0011736 Primary hyperaldosteronism 2/20
HP: 0011747 Abnormality of the anterior pituitary 2/20
HP: 0011750 Neoplasm of the anterior pituitary 7/20
HP: 0011767 Abnormality of the parathyroid physiology 8/20
HP: 0011793 Neoplasm by anatomical site 2/20
HP: 0011799 Abnormality of facial soft tissue 2/20
HP: 0011804 Abnormal muscle physiology 2/20
HP: 0011844 Abnormal appendicular skeleton morphology 2/20
HP: 0011885 Hemorrhage of the eye 2/20
HP: 0011986 Ectopic ossification 6/20
HP: 0011998 Postprandial hyperglycemia 1/20
HP: 0012093 Abnormality of endocrine pancreas physiology 9/20
HP: 0012131 Abnormal number of erythroid precursors 1/20
HP: 0012184 Increased HDL cholesterol concentration 5/20
HP: 0012188 Hyperemesis gravidarum 4/20
HP: 0012211 Abnormal renal physiology 3/20
HP: 0012243 Abnormal reproductive system morphology 1/20
HP: 0012271 Episodic upper airway obstruction 1/20
HP: 0012330 Pyelonephritis 1/20
HP: 0012337 Abnormal homeostasis 12/20
HP: 0012338 Abnormal energy expenditure 1/20
HP: 0012339 Increased resting energy expenditure 1/20
HP: 0012384 Rhinitis 1/20
HP: 0012387 Bronchitis 2/20
HP: 0012415 Abnormal blood gas level 1/20
HP: 0012433 Abnormal social behavior 2/20
HP: 0012443 Abnormality of brain morphology 3/20
HP: 0012452 Restless legs 11/20
HP: 0012503 Abnormality of the pituitary gland 2/20
HP: 0012619 Multiple bladder diverticula 2/20
HP: 0012622 Chronic kidney disease 10/20
HP: 0012732 Anorectal anomaly 2/20
HP: 0012759 Neurodevelopmental abnormality 2/20
HP: 0020110 Bone fracture 3/20
HP: 0020129 Abnormal urine protein level 10/20
HP: 0025015 Abnormal vascular morphology 1/20
HP: 0025065 Abnormal mean corpuscular volume 7/20
HP: 0025066 Decreased mean corpuscular volume 7/20
HP: 0025337 Red eye 2/20
HP: 0025356 Psychomotor retardation 2/20
HP: 0025373 Interictal EEG abnormality 5/20
HP: 0025426 Abnormal bronchus morphology 5/20
HP: 0025461 Abnormal cell morphology 3/20
HP: 0025487 Abnormality of bladder morphology 2/20
HP: 0030053 Stiff skin 2/20
HP: 0030178 Abnormality of central nervous system electrophysiology 3/20
HP: 0030764 Ochronosis 4/20
HP: 0030841 Toe pain 4/20
HP: 0030972 Abnormal systemic blood pressure 3/20
HP: 0031094 Abnormal breast physiology 2/20
HP: 0031258 Delirium 5/20
HP: 0031492 Epithelial neoplasm 6/20
HP: 0031493 Glandular cell neoplasm 7/20
HP: 0031495 Mucinous neoplasm 7/20
HP: 0031496 Mucinous cystic neoplasm of the pancreas 2/20
HP: 0031499 Appendiceal mucinous neoplasm 2/20
HP: 0031888 Abnormal HDL cholesterol concentration 5/20
HP: 0032178 Flaky paint dermatosis 1/20
HP: 0032180 Abnormal circulating metabolite concentration 4/20
HP: 0032186 Anal neoplasm 1/20
HP: 0032187 Anal intraepithelial neoplasia 1/20
HP: 0032245 Abnormal metabolism 2/20
HP: 0032368 Acidemia 3/20
HP: 0032536 Increased number of lymph nodes 2/20
HP: 0040064 Abnormality of limbs 4/20
HP: 0040068 Abnormality of limb bone 3/20
HP: 0040069 Abnormal lower limb bone morphology 5/20
HP: 0040070 Abnormal upper limb bone morphology 2/20
HP: 0040084 Abnormal circulating renin 2/20
HP: 0040126 Abnormal vitamin B12 level 3/20
HP: 0040270 Impaired glucose tolerance 11/20
HP: 0040277 Neoplasm of the pituitary gland 5/20
HP: 0045060 Aplasia/hypoplasia involving bones of the extremities 4/20
HP: 0100028 Ectopic thyroid 1/20
HP: 0100261 Abnormal tendon morphology 1/20
HP: 0100491 Abnormality of lower limb joint 5/20
HP: 0100502 Vitamin B12 deficiency 3/20
HP: 0100508 Abnormality of vitamin metabolism 7/20
HP: 0100511 Abnormality of vitamin D metabolism 12/20
HP: 0100512 Low levels of vitamin D 12/20
HP: 0100520 Oliguria 3/20
HP: 0100568 Neoplasm of the endocrine system 5/20
HP: 0100570 Carcinoid tumor 2/20
HP: 0100574 Biliary tract neoplasm 2/20
HP: 0100575 Neoplasm of the gallbladder 2/20
HP: 0100585 Telangiectasia of the skin 7/20
HP: 0100603 Toxemia of pregnancy 2/20
HP: 0100651 Type I diabetes mellitus 3/20
HP: 0100659 Abnormality of the cerebral vasculature 2/20
HP: 0100684 Salivary gland neoplasm 1/20
HP: 0100716 Self-injurious behavior 2/20
HP: 0100742 Vascular neoplasm 1/20
HP: 0100749 Chest pain 6/20
HP: 0100767 Abnormality of the placenta 1/20
HP: 0100785 Insomnia 13/20
HP: 0100825 Cheilitis 3/20
HP: 0100829 Galactorrhea 1/20
HP: 0100833 Neoplasm of the small intestine 3/20
HP: 0100851 Abnormal emotion/affect behavior 3/20
HP: 0100852 Abnormal fear/anxiety-related behavior 2/20
HP: 0100872 Abnormality of the plantar skin of foot 1/20
HP: 0200143 Megaloblastic erythroid hyperplasia 1/20
HP: 0500015 Abnormal cardiac test 2/20