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: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		disease Congenital Abnormality 39 10 0.010 None 1.000 1 2017 2017
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		disease Disease or Syndrome 25 2 0.010 None 1.000 1 2014 2014
CUI: C3669212
Disease: Progressive retinal atrophy
Progressive retinal atrophy 		disease Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		phenotype Finding 24 1 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		disease Disease or Syndrome 19 1 0.100 None 0
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0
CUI: C1852548
Disease: Absent retinal pigment epithelium
Absent retinal pigment epithelium 		phenotype Finding 4 0.100 None 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		phenotype Finding 27 3 0.100 None 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		phenotype Finding 16 2 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C3275758
Disease: Choriocapillaris atrophy
Choriocapillaris atrophy 		phenotype Finding 5 0.100 None 0
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: C4073099
Disease: Perifoveal ring of hyperautofluorescence
Perifoveal ring of hyperautofluorescence 		phenotype Finding 5 0.100 None 0
CUI: C4073101
Disease: Hyperautofluorescent macular lesion
Hyperautofluorescent macular lesion 		phenotype Finding 4 0.100 None 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.200 None 1.000 10 2 1999 2019
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: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.370 None 1.000 8 2 2001 2019
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.060 None 1.000 6 2 2001 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.140 None 1.000 5 2 1998 2013
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 74 120 0.010 None 1.000 1 1998 1998
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 2005 2005
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.010 None 1.000 1 2005 2005
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 48 31 0.100 None 0.900 10 1999 2019