MYOC, myocilin, 4653

N. diseases: 79; N. variants: 51
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3152182
Disease: Anterior chamber anomalies
Anterior chamber anomalies 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 1 0.100 None 0
CUI: C1299694
Disease: Glaucomatous visual field defect
Glaucomatous visual field defect 		phenotype Finding 3 0.100 None 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		disease Anatomical Abnormality 27 0.100 None 0
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.100 None 0 1
CUI: C3805911
Disease: Increased cup-to-disc ratio
Increased cup-to-disc ratio 		phenotype Finding 4 1 0.100 None 0
CUI: C0344299
Disease: Temporal pallor of optic disc
Temporal pallor of optic disc 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C3275963
Disease: Abnormal iris vasculature
Abnormal iris vasculature 		phenotype Finding 2 0.100 None 0
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 0.100 None 0 1
CUI: C0035302
Disease: Retinal Artery Occlusion
Retinal Artery Occlusion 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 9 1 0.100 None 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.100 None 0
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 76 15 0.100 None 0 1
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.100 None 0 1
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.100 None 0 1
CUI: C1866550
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC
GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC 		disease Finding 1 1 0.100 None 0 1
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.070 None 0.857 7 1997 2019
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		disease Eye Diseases Disease or Syndrome 103 56 0.070 None 0.857 7 4 2001 2019
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.040 None 1.000 4 2013 2018
CUI: C3711383
Disease: Early-Onset Glaucoma
Early-Onset Glaucoma 		disease Eye Diseases Disease or Syndrome 15 1 0.030 None 1.000 3 2001 2019
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 54 8 0.020 None 1.000 2 1997 2012
CUI: C0339578
Disease: Corticosteroid-induced glaucoma
Corticosteroid-induced glaucoma 		disease Eye Diseases Disease or Syndrome 6 0.020 None 0.500 2 2004 2004
CUI: C0857070
Disease: Chronic open angle glaucoma
Chronic open angle glaucoma 		disease Eye Diseases Disease or Syndrome 6 0.020 None 1.000 2 1995 1997
CUI: C0595936
Disease: Aqueous Humor Disorders
Aqueous Humor Disorders 		disease Eye Diseases Disease or Syndrome 85 1 0.020 None 1.000 2 2013 2018
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		disease Eye Diseases Disease or Syndrome 94 56 0.010 None 1.000 1 3 2015 2015