CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
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: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 45 4 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 104 8 0.100 None 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 95 187 0.200 None 1.000 54 45 2006 2019
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 26 105 0.440 None 1.000 43 43 2006 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.700 strong 1.000 41 8 2006 2019
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 96 103 0.160 None 1.000 40 42 2006 2018
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 81 60 0.100 None 0.947 38 2006 2019
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 45 0.910 None 1.000 17 45 2006 2019
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 53 38 0.400 None 1.000 12 2007 2020
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 86 163 0.500 None 1.000 10 1 2008 2019
CUI: C1857821
Disease: LEBER CONGENITAL AMAUROSIS 10 (disorder)
LEBER CONGENITAL AMAUROSIS 10 (disorder) 		disease Eye Diseases Disease or Syndrome 1 17 0.800 None 1.000 10 17 2006 2018
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.190 None 1.000 9 4 2006 2018
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.160 None 1.000 7 6 2007 2018
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 2 13 0.700 None 1.000 7 13 2006 2018
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 26 0.610 None 1.000 7 26 2006 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.150 None 1.000 6 4 2006 2019
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 20 1 0.540 None 1.000 6 2007 2013
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		disease Eye Diseases Disease or Syndrome 136 16 0.060 None 1.000 6 2006 2018
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 42 1 0.200 None 1.000 3 2007 2013
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.030 None 1.000 3 2013 2018
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 11 0.500 None 1.000 3 2008 2010
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 17 0.600 None 1.000 3 13 2006 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.020 None 1.000 2 2002 2014
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 20 65 0.300 strong 1.000 2 2007 2007