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.
Dry age-related macular degeneration
phenotype Anatomical Abnormality 11 1 0.010 None 1.000 1 2018 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2019 2019
CUI: C0457949
Disease: Chronic low back pain
Chronic low back pain
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 43 3 0.010 None < 0.001 1 2019 2019
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis
disease Infections; Musculoskeletal Diseases Disease or Syndrome 34 1 0.010 None 1.000 1 2017 2017
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 30 22 0.010 None 1.000 1 2018 2018
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2019 2019
Congenital hypertrophy of retinal pigment epithelium
disease Congenital Abnormality 5 3 0.010 None 1.000 1 1994 1994
Autosomal recessive retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.010 None 1.000 1 2017 2017
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 2004 2004
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy
disease Congenital Abnormality 39 10 0.010 None 1.000 1 2015 2015
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 2016 2016
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2019 2019
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection
disease Infections Disease or Syndrome 192 1 0.010 None 1.000 1 2017 2017
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype Disease or Syndrome 45 24 0.010 None 1.000 1 2015 2015
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment
disease Eye Diseases Disease or Syndrome 47 8 0.010 None 1.000 1 2019 2019
CUI: C0235950
Disease: Zinc deficiency
Zinc deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 90 4 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 1997 1997
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease Eye Diseases Disease or Syndrome 52 59 0.010 None 1.000 1 2015 2015
Multiple evanescent white dot syndrome
disease Eye Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen
disease Disease or Syndrome 10 10 0.010 None 1.000 1 2017 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2020 2020
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.010 None 1.000 1 2007 2007
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 139 30 0.010 None 1.000 1 2015 2015
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
disease Eye Diseases Disease or Syndrome 7 36 0.010 None 1.000 1 2017 2017
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.010 None 1.000 1 2019 2019