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: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		disease Eye Diseases Disease or Syndrome 4 38 0.720 strong 1.000 38 37 1996 2015
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.700 None 0.979 146 21 1995 2019
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		disease Eye Diseases Disease or Syndrome 130 236 0.700 None 0.987 76 6 1996 2019
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.500 None 0.983 178 27 1996 2019
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		disease Eye Diseases Disease or Syndrome; Congenital Abnormality 3 34 0.500 limited 1.000 1 1 2005 2005
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension 		disease Eye Diseases Disease or Syndrome 103 8 0.400 None 0.769 13 3 1997 2017
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.400 None 1.000 13 1 1996 2013
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		disease Eye Diseases Disease or Syndrome 30 15 0.400 None 1.000 10 1 1996 2012
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.330 limited 1.000 3 2002 2019
CUI: C0271148
Disease: Secondary Open Angle Glaucoma
Secondary Open Angle Glaucoma 		disease Eye Diseases Disease or Syndrome 13 0.300 None 1.000 1 2011 2011
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0017662
Disease: Glomerulonephritis, Membranoproliferative
Glomerulonephritis, Membranoproliferative 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 57 3 0.200 None 1.000 1 2005 2005
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.150 None 0.800 5 2007 2014
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		group Eye Diseases; Nervous System Diseases Disease or Syndrome 112 2 0.120 None 1.000 2 1997 2012
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.120 None 1.000 2 2014 2015
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		disease Eye Diseases Disease or Syndrome 304 56 0.100 None 0.944 36 6 1996 2019
CUI: C4068743
Disease: Juvenile open angle
Juvenile open angle 		disease Disease or Syndrome 7 1 0.100 None 1.000 17 1 1997 2018
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 24 25 0.100 None 0.929 14 2 2004 2016
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C4023166
Disease: Abnormality of T cell physiology
Abnormality of T cell physiology 		phenotype Pathologic Function 6 3 0.100 None 0 1
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 46 10 0.100 None 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 43 2 0.100 None 0
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		phenotype Finding 19 4 0.100 None 0
CUI: C4016750
Disease: GLAUCOMA 1, OPEN ANGLE, A, DIGENIC
GLAUCOMA 1, OPEN ANGLE, A, DIGENIC 		disease Finding 2 1 0.100 None 0 1
CUI: C4023612
Disease: Abnormality of cellular immune system
Abnormality of cellular immune system 		phenotype Anatomical Abnormality 4 3 0.100 None 0 1