ZNF408, zinc finger protein 408, 79797

N. diseases: 42; N. variants: 5
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: C4225316
Disease: EXUDATIVE VITREORETINOPATHY 6
EXUDATIVE VITREORETINOPATHY 6 		disease Disease or Syndrome 1 2 0.600 None 1.000 1 2 2013 2013
CUI: C4225315
Disease: RETINITIS PIGMENTOSA 72
RETINITIS PIGMENTOSA 72 		disease Disease or Syndrome 1 2 0.600 None 1.000 1 2 2015 2015
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		disease Congenital Abnormality 19 18 0.360 None 1.000 6 1 2013 2019
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 6 28 0.310 None 1.000 1 1 2018 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.310 None 1.000 1 1 2015 2015
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease Eye Diseases Disease or Syndrome 67 9 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C0423361
Disease: Posterior Vitreous Detachment
Posterior Vitreous Detachment 		disease Eye Diseases Disease or Syndrome 9 0.100 None 0
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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
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 0.100 None 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 101 1 0.100 None 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C4072980
Disease: Exudative vitreoretinopathy
Exudative vitreoretinopathy 		disease Disease or Syndrome 6 2 0.100 None 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.100 None 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype Finding 98 4 0.100 None 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 168 18 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 269 83 0.100 None 0