RDH5, retinol dehydrogenase 5, 5959

N. diseases: 49; N. variants: 21
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: C4072991
Disease: Yellow/white lesions of the retina
Yellow/white lesions of the retina 		phenotype Finding 4 0.100 None 0
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		phenotype Finding 19 4 0.100 None 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		phenotype Finding 41 2 0.100 None 0
CUI: C3151111
Disease: Abnormal light- and dark-adapted electroretinogram
Abnormal light- and dark-adapted electroretinogram 		phenotype Finding 9 0.100 None 0
CUI: C4703439
Disease: Abnormality of fundus pigmentation
Abnormality of fundus pigmentation 		phenotype Finding 14 0.100 None 0
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 68 17 0.100 None 0
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: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		phenotype Finding 16 2 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0
CUI: C0239119
Disease: Lenticonus
Lenticonus 		disease Congenital Abnormality 6 1 0.100 None 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 43 2 0.100 None 0
CUI: C4024760
Disease: Progressive visual field defects
Progressive visual field defects 		phenotype Finding 7 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
CUI: C0024440
Disease: Macular Edema, Cystoid
Macular Edema, Cystoid 		disease Eye Diseases Disease or Syndrome 49 3 0.100 None 0
CUI: C4016746
Disease: FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE 		disease Finding 1 8 0.100 None 0 8
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C0015398
Disease: Eye Diseases, Hereditary
Eye Diseases, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 1996 1996
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 7 0.010 None 1.000 1 1999 1999
CUI: C3495915
Disease: Delayed dark adaptation
Delayed dark adaptation 		disease Disease or Syndrome 1 0.020 None 1.000 2 1999 2000
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 7 2 0.020 None 1.000 2 2000 2001
CUI: C3551052
Disease: Night blindness, stationary
Night blindness, stationary 		disease Disease or Syndrome 10 0.010 None 1.000 1 2001 2001
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.310 limited 1.000 1 2001 2001
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		disease Congenital Abnormality 39 10 0.020 None 1.000 2 2002 2003
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease Eye Diseases Disease or Syndrome 52 59 0.020 None 1.000 2 2002 2003