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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.070 None 1.000 7 2001 2018
CUI: C1272174
Disease: Scotopic sensitivity
Scotopic sensitivity 		disease Disease or Syndrome 2 0.020 None 1.000 2 1987 1988
CUI: C3551052
Disease: Night blindness, stationary
Night blindness, stationary 		disease Disease or Syndrome 10 0.020 None 1.000 2 1996 2004
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype Disease or Syndrome 45 24 0.010 None 1.000 1 2004 2004
CUI: C0334070
Disease: Maturation defect
Maturation defect 		phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2005 2005
CUI: C1335059
Disease: testicular nonseminoma
testicular nonseminoma 		disease Neoplastic Process 30 4 0.010 None 1.000 1 2001 2001
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder) 		disease Disease or Syndrome 106 0.010 None 1.000 1 2010 2010
CUI: C3825718
Disease: Retina--Diseases
Retina--Diseases 		group Disease or Syndrome 1 0.010 None 1.000 1 1987 1987
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		disease Disease or Syndrome 31 2 0.010 None 1.000 1 1994 1994
CUI: C4280422
Disease: Bilateral nanophthalmos
Bilateral nanophthalmos 		disease Congenital Abnormality 1 1 0.010 None 1.000 1 1 2019 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2019 2019
CUI: C0239119
Disease: Lenticonus
Lenticonus 		disease Congenital Abnormality 6 1 0.100 None 0
CUI: C0240897
Disease: Retinal exudates
Retinal exudates 		phenotype Finding 5 1 0.100 None 0 1
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		phenotype Finding 19 4 0.100 None 0 1
CUI: C0423420
Disease: Absent foveal reflex
Absent foveal reflex 		phenotype Finding 6 0.100 None 0
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		phenotype Finding 24 1 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C1836926
Disease: Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina 		phenotype Finding 24 0.100 None 0
CUI: C1839025
Disease: Decreased light- and dark-adapted electroretinogram amplitude
Decreased light- and dark-adapted electroretinogram amplitude 		phenotype Finding 15 1 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		phenotype Finding 16 2 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0 1
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0