Diseases of the eye and adnexa

Chapter7

Case/Control GWAS

GWAS of Chapter7

Statistics

Case Control
54048 406158

Top SNP Information

Associated Phenotypes

ID Name Top Correlation
HP: 0000077 Abnormality of the kidney 1/20
HP: 0000095 Abnormality of renal glomerulus morphology 6/20
HP: 0000118 Phenotypic abnormality 2/20
HP: 0000123 Nephritis 1/20
HP: 0000152 Abnormality of head or neck 1/20
HP: 0000159 Abnormal lip morphology 3/20
HP: 0000172 Abnormality of the uvula 2/20
HP: 0000234 Abnormality of the head 1/20
HP: 0000282 Facial edema 7/20
HP: 0000286 Epicanthus 3/20
HP: 0000290 Abnormality of the forehead 1/20
HP: 0000309 Abnormality of the midface 4/20
HP: 0000356 Abnormality of the outer ear 1/20
HP: 0000359 Abnormality of the inner ear 1/20
HP: 0000363 Abnormality of earlobe 1/20
HP: 0000377 Abnormality of the pinna 1/20
HP: 0000387 Absent earlobe 6/20
HP: 0000465 Webbed neck 2/20
HP: 0000479 Abnormal retinal morphology 1/20
HP: 0000486 Strabismus 6/20
HP: 0000488 Retinopathy 9/20
HP: 0000492 Abnormal eyelid morphology 4/20
HP: 0000493 Abnormal foveal morphology 4/20
HP: 0000495 Recurrent corneal erosions 2/20
HP: 0000496 Abnormality of eye movement 3/20
HP: 0000498 Blepharitis 4/20
HP: 0000501 Glaucoma 1/20
HP: 0000504 Abnormality of vision 1/20
HP: 0000505 Visual impairment 1/20
HP: 0000509 Conjunctivitis 3/20
HP: 0000510 Rod-cone dystrophy 1/20
HP: 0000517 Abnormality of the lens 14/20
HP: 0000518 Cataract 14/20
HP: 0000519 Developmental cataract 16/20
HP: 0000523 Subcapsular cataract 15/20
HP: 0000537 Epicanthus inversus 3/20
HP: 0000543 Optic disc pallor 2/20
HP: 0000546 Retinal degeneration 3/20
HP: 0000548 Cone/cone-rod dystrophy 2/20
HP: 0000549 Abnormal conjugate eye movement 6/20
HP: 0000551 Color vision defect 1/20
HP: 0000555 Leukocoria 1/20
HP: 0000556 Retinal dystrophy 1/20
HP: 0000589 Coloboma 6/20
HP: 0000593 Abnormal anterior chamber morphology 15/20
HP: 0000598 Abnormality of the ear 1/20
HP: 0000606 Abnormality of the periorbital region 7/20
HP: 0000608 Macular degeneration 1/20
HP: 0000610 Abnormal choroid morphology 6/20
HP: 0000613 Photophobia 5/20
HP: 0000621 Entropion 3/20
HP: 0000629 Periorbital fullness 6/20
HP: 0000640 Gaze-evoked nystagmus 6/20
HP: 0000646 Amblyopia 2/20
HP: 0000667 Phthisis bulbi 1/20
HP: 0000707 Abnormality of the nervous system 1/20
HP: 0000764 Peripheral axonal degeneration 5/20
HP: 0000864 Abnormality of the hypothalamus-pituitary axis 3/20
HP: 0000924 Abnormality of the skeletal system 1/20
HP: 0000929 Abnormal skull morphology 1/20
HP: 0000953 Hyperpigmentation of the skin 3/20
HP: 0000964 Eczema 9/20
HP: 0000973 Cutis laxa 1/20
HP: 0000988 Skin rash 10/20
HP: 0001000 Abnormality of skin pigmentation 9/20
HP: 0001009 Telangiectasia 9/20
HP: 0001010 Hypopigmentation of the skin 10/20
HP: 0001040 Multiple pterygia 2/20
HP: 0001059 Pterygium 3/20
HP: 0001060 Axillary pterygium 2/20
HP: 0001072 Thickened skin 1/20
HP: 0001087 Developmental glaucoma 3/20
HP: 0001103 Abnormal macular morphology 1/20
HP: 0001105 Retinal atrophy 2/20
HP: 0001133 Constriction of peripheral visual field 3/20
HP: 0001155 Abnormality of the hand 7/20
HP: 0001167 Abnormality of finger 6/20
HP: 0001197 Abnormality of prenatal development or birth 2/20
HP: 0001278 Orthostatic hypotension 1/20
HP: 0001298 Encephalopathy 1/20
HP: 0001311 Abnormal nervous system electrophysiology 5/20
HP: 0001349 Facial diplegia 2/20
HP: 0001367 Abnormal joint morphology 3/20
HP: 0001369 Arthritis 6/20
HP: 0001405 Periportal fibrosis 1/20
HP: 0001582 Redundant skin 2/20
HP: 0001595 Abnormal hair morphology 7/20
HP: 0001626 Abnormality of the cardiovascular system 1/20
HP: 0001627 Abnormal heart morphology 1/20
HP: 0001637 Abnormal myocardium morphology 2/20
HP: 0001638 Cardiomyopathy 3/20
HP: 0001639 Hypertrophic cardiomyopathy 2/20
HP: 0001760 Abnormality of the foot 4/20
HP: 0001780 Abnormality of toe 2/20
HP: 0001787 Abnormal delivery 4/20
HP: 0001943 Hypoglycemia 4/20
HP: 0001965 Abnormality of the scalp 2/20
HP: 0001999 Abnormal facial shape 4/20
HP: 0002011 Morphological central nervous system abnormality 3/20
HP: 0002063 Rigidity 1/20
HP: 0002076 Migraine 4/20
HP: 0002086 Abnormality of the respiratory system 1/20
HP: 0002088 Abnormal lung morphology 1/20
HP: 0002097 Emphysema 4/20
HP: 0002165 Pterygium of nails 1/20
HP: 0002315 Headache 2/20
HP: 0002539 Cortical dysplasia 1/20
HP: 0002597 Abnormality of the vasculature 1/20
HP: 0002644 Abnormality of pelvic girdle bone morphology 7/20
HP: 0002664 Neoplasm 3/20
HP: 0002683 Abnormality of the calvaria 1/20
HP: 0002715 Abnormality of the immune system 1/20
HP: 0002793 Abnormal pattern of respiration 1/20
HP: 0002813 Abnormality of limb bone morphology 4/20
HP: 0002814 Abnormality of the lower limb 6/20
HP: 0002817 Abnormality of the upper limb 6/20
HP: 0002823 Abnormality of femur morphology 4/20
HP: 0002861 Melanoma 9/20
HP: 0002893 Pituitary adenoma 11/20
HP: 0003011 Abnormality of the musculature 1/20
HP: 0003110 Abnormality of urine homeostasis 5/20
HP: 0003330 Abnormal bone structure 1/20
HP: 0003366 Abnormality of the femoral neck or head region 4/20
HP: 0003368 Abnormality of the femoral head 4/20
HP: 0003549 Abnormality of connective tissue 4/20
HP: 0003764 Nevus 5/20
HP: 0004302 Functional motor deficit 2/20
HP: 0004327 Abnormal vitreous humor morphology 5/20
HP: 0004328 Abnormal anterior eye segment morphology 14/20
HP: 0004334 Dermal atrophy 1/20
HP: 0004354 Abnormal circulating carboxylic acid concentration 1/20
HP: 0004364 Abnormal circulating nitrogen compound concentration 1/20
HP: 0004377 Hematological neoplasm 1/20
HP: 0004426 Abnormality of the cheek 4/20
HP: 0005115 Supraventricular arrhythmia 5/20
HP: 0005344 Abnormal carotid artery morphology 1/20
HP: 0005918 Abnormal finger phalanx morphology 7/20
HP: 0005922 Abnormal hand morphology 6/20
HP: 0006493 Aplasia/hypoplasia involving bones of the lower limbs 7/20
HP: 0006499 Abnormality of femoral epiphysis 4/20
HP: 0006500 Abnormality of lower limb epiphysis morphology 4/20
HP: 0006505 Abnormality of limb epiphysis morphology 4/20
HP: 0006803 Vivid hallucinations 1/20
HP: 0006824 Cranial nerve paralysis 1/20
HP: 0006934 Congenital nystagmus 1/20
HP: 0007286 Horizontal jerk nystagmus 1/20
HP: 0007359 Focal-onset seizure 1/20
HP: 0007400 Irregular hyperpigmentation 3/20
HP: 0007513 Generalized hypopigmentation 10/20
HP: 0007642 Congenital stationary night blindness 1/20
HP: 0007663 Reduced visual acuity 2/20
HP: 0007700 Ocular anterior segment dysgenesis 14/20
HP: 0007716 Uveal melanoma 11/20
HP: 0007803 Monochromacy 1/20
HP: 0007854 Glaucomatous visual field defect 1/20
HP: 0007859 Congenital horizontal nystagmus 1/20
HP: 0007872 Choroidal hemangioma 2/20
HP: 0007875 Congenital blindness 1/20
HP: 0007879 Allergic conjunctivitis 3/20
HP: 0007902 Vitreous hemorrhage 1/20
HP: 0007905 Abnormal iris vasculature 2/20
HP: 0007906 Ocular hypertension 2/20
HP: 0007917 Tractional retinal detachment 5/20
HP: 0007929 Peripheral retinal detachment 1/20
HP: 0007962 Speckled corneal dystrophy 2/20
HP: 0007986 Increased retinal vascularity 9/20
HP: 0008007 Primary congenital glaucoma 4/20
HP: 0008046 Abnormal retinal vascular morphology 5/20
HP: 0008047 Abnormality of the vasculature of the eye 7/20
HP: 0008056 Aplasia/Hypoplasia affecting the eye 1/20
HP: 0008057 Aplasia/Hypoplasia affecting the fundus 1/20
HP: 0008058 Aplasia/Hypoplasia of the optic nerve 1/20
HP: 0008061 Aplasia/Hypoplasia of the retina 1/20
HP: 0008067 Abnormally lax or hyperextensible skin 3/20
HP: 0008069 Neoplasm of the skin 4/20
HP: 0009103 Aplasia/Hypoplasia involving the pelvis 1/20
HP: 0009115 Aplasia/hypoplasia involving the skeleton 3/20
HP: 0009711 Retinal capillary hemangioma 2/20
HP: 0009733 Glioma 1/20
HP: 0009756 Popliteal pterygium 2/20
HP: 0009757 Intercrural pterygium 2/20
HP: 0009759 Neck pterygia 2/20
HP: 0009760 Antecubital pterygium 2/20
HP: 0009815 Aplasia/hypoplasia of the extremities 5/20
HP: 0009887 Abnormality of hair pigmentation 10/20
HP: 0009906 Aplasia/Hypoplasia of the earlobes 6/20
HP: 0009920 Nevus of Ota 6/20
HP: 0009926 Epiphora 3/20
HP: 0010606 Hordeolum 2/20
HP: 0010628 Facial palsy 1/20
HP: 0010720 Abnormal hair pattern 2/20
HP: 0010728 Aplasia of the retina 1/20
HP: 0010732 Nodular changes affecting the eyelids 2/20
HP: 0010749 Blepharochalasis 1/20
HP: 0010750 Dermatochalasis 3/20
HP: 0010766 Ectopic calcification 1/20
HP: 0010797 Hemangioblastoma 2/20
HP: 0010827 Abnormality of the seventh cranial nerve 1/20
HP: 0010920 Zonular cataract 14/20
HP: 0010935 Abnormality of the upper urinary tract 1/20
HP: 0010978 Abnormality of immune system physiology 1/20
HP: 0011004 Abnormal systemic arterial morphology 1/20
HP: 0011014 Abnormal glucose homeostasis 12/20
HP: 0011015 Abnormal blood glucose concentration 4/20
HP: 0011028 Abnormality of blood circulation 3/20
HP: 0011029 Internal hemorrhage 3/20
HP: 0011035 Abnormal renal cortex morphology 4/20
HP: 0011061 Abnormality of dental structure 1/20
HP: 0011121 Abnormality of skin morphology 5/20
HP: 0011122 Abnormality of skin physiology 3/20
HP: 0011123 Inflammatory abnormality of the skin 3/20
HP: 0011124 Abnormality of epidermal morphology 1/20
HP: 0011138 Abnormality of skin adnexa morphology 7/20
HP: 0011141 Age-related cataract 16/20
HP: 0011157 Focal sensory seizure 2/20
HP: 0011165 Focal sensory seizure with visual features 3/20
HP: 0011276 Vascular skin abnormality 3/20
HP: 0011297 Abnormal digit morphology 7/20
HP: 0011314 Abnormality of long bone morphology 1/20
HP: 0011329 Abnormality of cranial sutures 1/20
HP: 0011338 Abnormality of mouth shape 2/20
HP: 0011354 Generalized abnormality of skin 1/20
HP: 0011355 Localized skin lesion 6/20
HP: 0011368 Epidermal thickening 1/20
HP: 0011389 Functional abnormality of the inner ear 1/20
HP: 0011442 Abnormal central motor function 1/20
HP: 0011483 Anterior synechiae of the anterior chamber 1/20
HP: 0011516 Achromatopsia 1/20
HP: 0011530 Retinal hole 2/20
HP: 0011532 Subretinal exudate 2/20
HP: 0011675 Arrhythmia 1/20
HP: 0011747 Abnormality of the anterior pituitary 3/20
HP: 0011750 Neoplasm of the anterior pituitary 11/20
HP: 0011793 Neoplasm by anatomical site 3/20
HP: 0011799 Abnormality of facial soft tissue 4/20
HP: 0011805 Abnormal skeletal muscle morphology 1/20
HP: 0011842 Abnormality of skeletal morphology 1/20
HP: 0011844 Abnormal appendicular skeleton morphology 3/20
HP: 0011885 Hemorrhage of the eye 4/20
HP: 0011890 Prolonged bleeding following procedure 4/20
HP: 0011902 Abnormal hemoglobin 1/20
HP: 0011958 Retinal perforation 1/20
HP: 0012089 Arteritis 2/20
HP: 0012108 Open angle glaucoma 3/20
HP: 0012109 Angle closure glaucoma 3/20
HP: 0012124 Intermediate uveitis 2/20
HP: 0012210 Abnormal renal morphology 1/20
HP: 0012211 Abnormal renal physiology 1/20
HP: 0012230 Rhegmatogenous retinal detachment 1/20
HP: 0012231 Exudative retinal detachment 3/20
HP: 0012252 Abnormal respiratory system morphology 1/20
HP: 0012337 Abnormal homeostasis 10/20
HP: 0012443 Abnormality of brain morphology 4/20
HP: 0012498 Nuchal cord 6/20
HP: 0012503 Abnormality of the pituitary gland 3/20
HP: 0012511 Temporal optic disc pallor 1/20
HP: 0012512 Diffuse optic disc pallor 2/20
HP: 0012531 Pain 1/20
HP: 0012627 Pseudoexfoliation 1/20
HP: 0012632 Abnormal intraocular pressure 2/20
HP: 0012633 Asymmetry of intraocular pressure 2/20
HP: 0012639 Abnormal nervous system morphology 1/20
HP: 0012640 Abnormality of intracranial pressure 5/20
HP: 0012647 Abnormal inflammatory response 1/20
HP: 0012649 Increased inflammatory response 1/20
HP: 0012735 Cough 1/20
HP: 0012759 Neurodevelopmental abnormality 3/20
HP: 0012803 Anisometropia 3/20
HP: 0012842 Skin appendage neoplasm 3/20
HP: 0012893 Neck muscle hypertrophy 1/20
HP: 0025007 Ectopic fovea 1/20
HP: 0025015 Abnormal vascular morphology 2/20
HP: 0025032 Abnormality of digestive system physiology 1/20
HP: 0025142 Constitutional symptom 1/20
HP: 0025309 Abnormal pupil shape 1/20
HP: 0025323 Abnormal arterial physiology 5/20
HP: 0025337 Red eye 2/20
HP: 0025404 Abnormal visual fixation 5/20
HP: 0025540 Abnormal T cell subset distribution 2/20
HP: 0025549 Eccentric visual fixation 5/20
HP: 0025605 Lid lag on downgaze 1/20
HP: 0025608 Cicatricial ectropion 1/20
HP: 0025610 Posterior blepharitis 5/20
HP: 0025616 Sterile abscess 2/20
HP: 0030319 Weakness of facial musculature 1/20
HP: 0030448 Soft tissue sarcoma 1/20
HP: 0030498 Macular thickening 1/20
HP: 0030511 Bradyopsia 1/20
HP: 0030516 Homonymous hemianopia 5/20
HP: 0030638 Congenital stationary night blindness with normal fundus 1/20
HP: 0030640 Complete congenital stationary night blindness 1/20
HP: 0030666 Retinal neovascularization 10/20
HP: 0030746 Intraventricular hemorrhage 2/20
HP: 0030766 Ear pain 4/20
HP: 0030812 Enlarged tonsils 5/20
HP: 0030855 Anterior staphyloma 1/20
HP: 0030956 Abnormality of cardiovascular system electrophysiology 1/20
HP: 0030972 Abnormal systemic blood pressure 1/20
HP: 0031052 Elevated vascular endothelial growth factor level 3/20
HP: 0031263 Abnormal renal corpuscle morphology 6/20
HP: 0031392 Abnormal proportion of CD4 T cells 2/20
HP: 0031526 Subretinal fluid 4/20
HP: 0031609 Geographic atrophy 1/20
HP: 0031690 Opportunistic infection 2/20
HP: 0031703 Abnormal ear morphology 1/20
HP: 0031704 Abnormal ear physiology 1/20
HP: 0031724 Microtropia 7/20
HP: 0031728 Mild hypermetropia 1/20
HP: 0031785 Abnormal eyelid movement 1/20
HP: 0031830 Pinguecula 3/20
HP: 0031879 Abnormal eyelid physiology 1/20
HP: 0031880 Eyelid laxity 2/20
HP: 0032012 Heterotropia 7/20
HP: 0032040 Abnormal ocular adnexa physiology 1/20
HP: 0032060 Epithelioid hemangioma 2/20
HP: 0032118 Retinitis 1/20
HP: 0032180 Abnormal circulating metabolite concentration 2/20
HP: 0032219 Increased proportion of CD4 T cells 1/20
HP: 0032256 Histoplasmosis 1/20
HP: 0032260 Opportunistic bacterial infection 6/20
HP: 0032278 2-hydroxyglutarate aciduria 1/20
HP: 0032282 Contact dermatitis 7/20
HP: 0040049 Macular edema 4/20
HP: 0040064 Abnormality of limbs 5/20
HP: 0040068 Abnormality of limb bone 4/20
HP: 0040069 Abnormal lower limb bone morphology 7/20
HP: 0040070 Abnormal upper limb bone morphology 3/20
HP: 0040277 Neoplasm of the pituitary gland 10/20
HP: 0040295 Duplication of the upper lip 3/20
HP: 0040325 Bull's eye rash 2/20
HP: 0045060 Aplasia/hypoplasia involving bones of the extremities 5/20
HP: 0100012 Neoplasm of the eye 8/20
HP: 0100018 Nuclear cataract 14/20
HP: 0100019 Cortical cataract 5/20
HP: 0100022 Abnormality of movement 1/20
HP: 0100037 Abnormality of the scalp hair 2/20
HP: 0100242 Sarcoma 1/20
HP: 0100261 Abnormal tendon morphology 2/20
HP: 0100314 Cerebral inclusion bodies 4/20
HP: 0100315 Lewy bodies 4/20
HP: 0100498 Deviation of toes 5/20
HP: 0100539 Periorbital edema 7/20
HP: 0100545 Arterial stenosis 1/20
HP: 0100568 Neoplasm of the endocrine system 10/20
HP: 0100576 Amaurosis fugax 1/20
HP: 0100658 Cellulitis 10/20
HP: 0100699 Scarring 2/20
HP: 0100704 Cerebral visual impairment 2/20
HP: 0100705 Abnormality of the glial cells 2/20
HP: 0200036 Skin nodule 6/20
HP: 0410278 Pituitary gland cyst 1/20
HP: 0500044 Upper eyelid retraction 1/20
HP: 0500049 Retinopathy of prematurity 1/20
HP: 0500050 Retinopathy of prematurity stage 1 3/20
HP: 0500051 Retinopathy of prematurity stage 2 3/20
HP: 0500052 Retinopathy of prematurity stage 3 4/20
HP: 0500053 Retinopathy of prematurity stage 4 3/20
HP: 0500064 Retinopathy of prematurity threshold 3/20
HP: 0500086 Optic nerve gray crescent 2/20
HP: 0500087 Peripapillary atrophy 2/20
HP: 0500091 Lymphangioma of the orbit 1/20