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: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 1994 1994
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		disease Neoplasms Neoplastic Process 120 20 0.010 None 1.000 1 2011 2011
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2019 2019
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: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
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: C0860659
Disease: Aloof
Aloof 		disease Mental or Behavioral Dysfunction 81 0.010 None 1.000 1 2019 2019
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: 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: C0521694
Disease: Atrophic retina
Atrophic retina 		disease Eye Diseases Disease or Syndrome 24 2 0.030 None 1.000 3 2010 2018
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: C0339526
Disease: Autosomal recessive retinitis pigmentosa
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: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.020 None 1.000 2 2018 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.030 None 1.000 3 2017 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2019 2019
CUI: C1510420
Disease: Cavitation
Cavitation 		disease Anatomical Abnormality 47 0.010 None 1.000 1 2013 2013
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		disease Eye Diseases Disease or Syndrome 24 4 0.020 None 1.000 2 2015 2015
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: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
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: 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
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		disease Disease or Syndrome 25 2 0.010 None 1.000 1 1997 1997
CUI: C0339555
Disease: Congenital hypertrophy of retinal pigment epithelium
Congenital hypertrophy of retinal pigment epithelium 		disease Congenital Abnormality 5 3 0.010 None 1.000 1 1994 1994
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		group Infections Disease or Syndrome 462 26 0.020 None 1.000 2 2011 2015
CUI: C0162830
Disease: Dermatitis, Phototoxic
Dermatitis, Phototoxic 		disease Skin and Connective Tissue Diseases Disease or Syndrome 89 0.010 None 1.000 1 2019 2019