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: C0271342
Disease: Glaucomatous atrophy of optic disc
Glaucomatous atrophy of optic disc
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.010 None < 0.001 1 1 1999 1999
Glaucoma due to combination of mechanisms
disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2002 2002
GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC
disease Finding 1 1 0.100 None 0 1
CUI: C3275963
Disease: Abnormal iris vasculature
Abnormal iris vasculature
phenotype Finding 2 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: 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: C1299694
Disease: Glaucomatous visual field defect
Glaucomatous visual field defect
phenotype Finding 3 0.100 None 0
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: C3805911
Disease: Increased cup-to-disc ratio
Increased cup-to-disc ratio
phenotype Finding 4 1 0.100 None 0
Abnormality of cellular immune system
phenotype Anatomical Abnormality 4 3 0.100 None 0 1
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: 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: C0311237
Disease: Goniodysgenesis
Goniodysgenesis
disease Congenital Abnormality 6 3 0.010 None 1.000 1 1 2009 2009
CUI: C4023166
Disease: Abnormality of T cell physiology
Abnormality of T cell physiology
phenotype Pathologic Function 6 3 0.100 None 0 1
CUI: C4068743
Disease: Juvenile open angle
Juvenile open angle
disease Disease or Syndrome 7 1 0.100 None 1.000 17 1 1997 2018
Chronic primary angle closure glaucoma
disease Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 2005 2005
CUI: C0035302
Disease: Retinal Artery Occlusion
Retinal Artery Occlusion
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 9 1 0.100 None 0
CUI: C0851409
Disease: Glaucoma and ocular hypertension
Glaucoma and ocular hypertension
disease Eye Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 1 1997 1997
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 1 2004 2004
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: 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: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME
disease Disease or Syndrome 17 8 0.010 None 1.000 1 2013 2013
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: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss
phenotype Finding 19 4 0.100 None 0