GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
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: C1865869
Disease: CONE DYSTROPHY 3 (disorder)
CONE DYSTROPHY 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 6 0.720 None 1.000 9 6 1998 2011
CUI: C4073085
Disease: Foveal photoreceptor outer segment loss on macular OCT
Foveal photoreceptor outer segment loss on macular OCT 		phenotype Finding 3 0.100 None 0
CUI: C1852548
Disease: Absent retinal pigment epithelium
Absent retinal pigment epithelium 		phenotype Finding 4 0.100 None 0
CUI: C4073101
Disease: Hyperautofluorescent macular lesion
Hyperautofluorescent macular lesion 		phenotype Finding 4 0.100 None 0
CUI: C3275758
Disease: Choriocapillaris atrophy
Choriocapillaris atrophy 		phenotype Finding 5 0.100 None 0
CUI: C4073099
Disease: Perifoveal ring of hyperautofluorescence
Perifoveal ring of hyperautofluorescence 		phenotype Finding 5 0.100 None 0
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
RETINAL CONE DYSTROPHY 1 		disease Eye Diseases Disease or Syndrome 6 6 0.090 None 1.000 9 3 1998 2017
CUI: C3669212
Disease: Progressive retinal atrophy
Progressive retinal atrophy 		disease Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 1 2005 2005
CUI: C2733564
Disease: Full thickness hole of macula lutea
Full thickness hole of macula lutea 		disease Eye Diseases Disease or Syndrome 7 0.100 None 0
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		disease Eye Diseases Disease or Syndrome 9 6 0.300 None 1.000 2 1998 2005
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		disease Eye Diseases Disease or Syndrome 10 5 0.300 None 1.000 1 2017 2017
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 21 0.010 None 1.000 1 2005 2005
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		phenotype Finding 16 2 0.100 None 0
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		disease Eye Diseases Disease or Syndrome 17 3 0.010 None 1.000 1 2005 2005
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		disease Disease or Syndrome 19 1 0.100 None 0
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		phenotype Finding 24 1 0.100 None 0
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		disease Disease or Syndrome 25 2 0.010 None 1.000 1 2014 2014
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		phenotype Finding 27 3 0.100 None 0
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		disease Congenital Abnormality 39 10 0.010 None 1.000 1 2017 2017
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 39 2 0.100 None 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 48 31 0.100 None 0.900 10 1999 2019
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		group Eye Diseases Disease or Syndrome 49 24 0.010 None 1.000 1 2017 2017
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease Eye Diseases Disease or Syndrome 52 59 0.110 None 1.000 3 2 1998 2019
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 53 11 0.010 None 1.000 1 2005 2005