GUCY2D, guanylate cyclase 2D, retinal, 3000

N. diseases: 11; N. variants: 40
Source: CURATED ×
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: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 1 34 1.000 None 0.984 9 26 1995 2020
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 10 0.980 limited 1.000 14 10 1996 2020
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 422 0.680 strong 0.875 1 2005 2016
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		disease Eye Diseases Disease or Syndrome 3 1 0.610 None 1.000 1 1 2012 2012
CUI: C4551884
Disease: Choroidal Dystrophy, Central Areolar 1
Choroidal Dystrophy, Central Areolar 1 		disease Eye Diseases Disease or Syndrome 1 1 0.600 None 1.000 1 1 2012 2012
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 22 90 0.500 None 0.971 1 5 1996 2020
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 29 7 0.400 None 1.000 2 1998 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 212 0.310 None 1.000 0 2000 2000
CUI: C0344297
Disease: Choroidal sclerosis
Choroidal sclerosis 		disease Eye Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		disease Neoplasms Neoplastic Process 54 20 0.300 None 0 1
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 110 1 0.300 limited 0