RPGRIP1, RPGR interacting protein 1, 57096

N. diseases: 121; N. variants: 36
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: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		disease Eye Diseases Disease or Syndrome; Congenital Abnormality 2 19 0.900 None 1.000 13 18 2001 2018
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.800 strong 1.000 21 10 2001 2019
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 9 0.700 None 1.000 6 9 2000 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.680 strong 1.000 8 1 2004 2017
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.420 None 1.000 3 6 2002 2006
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.410 None 1.000 1 2001 2001
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 25 2 0.400 None 1.000 1 1 2001 2001
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 48 11 0.400 None 1.000 1 1 2001 2001
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 0.350 None 1.000 7 2003 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.320 limited 1.000 2 2009 2011
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 0.310 limited 1.000 1 2011 2011
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		disease Eye Diseases Disease or Syndrome 8 0.300 None 1.000 2 2001 2001
CUI: C0155380
Disease: Dissociated Nystagmus
Dissociated Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C0271387
Disease: Rebound Nystagmus
Rebound Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C0271389
Disease: Jerk Nystagmus
Jerk Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C0521757
Disease: Conjugate Nystagmus
Conjugate Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C0344243
Disease: See-Saw Nystagmus
See-Saw Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2001 2001
CUI: C0271384
Disease: Spontaneous Ocular Nystagmus
Spontaneous Ocular Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C0521756
Disease: Multidirectional Nystagmus
Multidirectional Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C0521755
Disease: Unidirectional Nystagmus
Unidirectional Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C0521754
Disease: Permanent Nystagmus
Permanent Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C0521753
Disease: Temporary Nystagmus
Temporary Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C0521761
Disease: Non-Fatigable Positional Nystagmus
Non-Fatigable Positional Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C0520731
Disease: Retraction Nystagmus
Retraction Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 3 0.300 None 1.000 1 2001 2001