RPGR, retinitis pigmentosa GTPase regulator, 6103

N. diseases: 167; N. variants: 64
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: C1845667
Disease: RETINITIS PIGMENTOSA 3
RETINITIS PIGMENTOSA 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 31 0.970 None 1.000 27 30 1996 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.800 strong 1.000 79 23 1995 2019
CUI: C1844776
Disease: CONE-ROD DYSTROPHY, X-LINKED, 1
CONE-ROD DYSTROPHY, X-LINKED, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 6 0.800 None 1.000 3 6 1998 2003
CUI: C2749137
Disease: Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Eye Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 2 0.700 None 1.000 4 2 1998 2006
CUI: C3151784
Disease: MACULAR DEGENERATION, X-LINKED ATROPHIC
MACULAR DEGENERATION, X-LINKED ATROPHIC 		disease Disease or Syndrome 1 0.500 None 1.000 1 1998 1998
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.460 None 1.000 8 3 2002 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.430 None 1.000 3 2002 2019
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 29 7 0.400 strong 0.989 94 3 1995 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 254 51 0.390 None 1.000 10 2002 2019
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.340 None 1.000 4 2005 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.330 None 1.000 3 2008 2018
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype Eye Diseases Pathologic Function 125 2 0.310 None 1.000 2 2002 2009
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 67 3 0.310 None 1.000 1 2018 2018
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.310 None 1.000 1 2009 2009
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections 		group Infections; Respiratory Tract Diseases Disease or Syndrome 187 10 0.300 None 1.000 1 2003 2003
CUI: C0041912
Disease: Upper Respiratory Infections
Upper Respiratory Infections 		group Infections; Respiratory Tract Diseases Disease or Syndrome 64 6 0.300 None 1.000 1 2003 2003
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.300 None 1.000 1 2003 2003
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 26 63 0.300 None 0
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 0
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 43 67 0.300 None 0
CUI: C1844777
Disease: CONE DYSTROPHY, X-LINKED, 1
CONE DYSTROPHY, X-LINKED, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.210 None 1.000 3 2000 2003
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.200 None 1.000 10 1995 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 4 2000 2012
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.180 None 1.000 8 2002 2019
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 48 31 0.160 None 1.000 6 1 1997 2016