RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
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: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 44 0.910 None 1.000 35 44 1990 2018
Night Blindness, Congenital Stationary, Autosomal Dominant 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 5 0.900 limited 1.000 11 5 1993 2011
Night blindness, congenital stationary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 32 52 0.800 strong 1.000 14 3 1993 2016
Retinitis punctata albescens (disorder)
disease Eye Diseases Disease or Syndrome 10 10 0.720 strong 1.000 2 1 1996 2005
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus
disease Eye Diseases Congenital Abnormality 9 21 0.710 limited 1.000 2 1 1987 1996
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.700 strong 0.989 186 38 1978 2020
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
phenotype Eye Diseases Pathologic Function 125 2 0.300 None 1.000 2 1996 2016
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 26 9 0.300 None 1.000 1 1993 1993
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 8 0.300 None 1.000 1 1993 1993
CUI: C3711543
Disease: X-Linked Csnb
X-Linked Csnb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 0.300 None 1.000 1 1993 1993
Cone-rod synaptic disorder, congenital nonprogressive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 14 4 0.300 None 1.000 1 1993 1993
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 0.300 None 1.000 1 1993 1993
Night blindness, congenital stationary, type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 0.300 None 1.000 1 1993 1993
Night Blindness, Congenital Stationary, Type 1A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 19 0.300 None 1.000 1 1993 1993
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
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 8 1997 2017
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
disease Eye Diseases Disease or Syndrome 168 18 0.180 None 1.000 8 4 1995 2019
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.170 None 1.000 7 2 2002 2018
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.160 None 1.000 6 2000 2019
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.110 None 1.000 1 1 1998 1998
CUI: C0024440
Disease: Macular Edema, Cystoid
Macular Edema, Cystoid
disease Eye Diseases Disease or Syndrome 49 3 0.110 None 1.000 1 1 2012 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2000 2000
Autosomal dominant retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.100 None 1.000 136 22 1988 2020
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration
disease Eye Diseases Disease or Syndrome 136 16 0.100 None 1.000 17 4 1998 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.100 None 1.000 12 1 1999 2019