RPE, ribulose-5-phosphate-3-epimerase, 6120

N. diseases: 90; N. variants: 4
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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.100 None 0.970 33 2 2003 2019
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.090 None 1.000 9 2005 2019
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		disease Eye Diseases Disease or Syndrome 85 81 0.070 None 1.000 7 2013 2019
CUI: C0008525
Disease: Choroideremia
Choroideremia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 41 15 0.060 None 1.000 6 1999 2019
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.040 None 1.000 4 2 2009 2018
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 645 213 0.030 None 1.000 3 2017 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.030 None 1.000 3 1 2001 2016
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		disease Eye Diseases Disease or Syndrome 142 14 0.030 None 1.000 3 2006 2017
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane 		disease Eye Diseases Acquired Abnormality 102 0.030 None 1.000 3 2015 2019
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		disease Eye Diseases Disease or Syndrome 24 2 0.030 None 1.000 3 2010 2018
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		disease Acquired Abnormality 7 2 0.030 None 1.000 3 2002 2019
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		disease Eye Diseases Disease or Syndrome 13 6 0.020 None 1.000 2 2018 2019
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.020 None 1.000 2 2007 2008
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.020 None 1.000 2 2019 2019
CUI: C0730285
Disease: Diabetic macular edema
Diabetic macular edema 		disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 92 6 0.020 None 1.000 2 2018 2019
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 39 2 0.020 None 1.000 2 2007 2007
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		disease Eye Diseases Disease or Syndrome 16 6 0.020 None 1.000 2 2000 2017
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease Disease or Syndrome 23 317 0.020 None 1.000 2 2013 2014
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		disease Eye Diseases Disease or Syndrome 136 16 0.020 None 1.000 2 2017 2017
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 81 60 0.020 None 1.000 2 2013 2017
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		disease Eye Diseases Disease or Syndrome 24 4 0.020 None 1.000 2 2015 2015
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.010 None 1.000 1 2018 2018
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2019 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2019 2019
CUI: C0018552
Disease: Hamartoma
Hamartoma 		disease Neoplasms Neoplastic Process 91 8 0.010 None 1.000 1 2019 2019