NRL, neural retina leucine zipper, 4901

N. diseases: 61; N. variants: 18
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: C1834329
Disease: RETINITIS PIGMENTOSA 27
RETINITIS PIGMENTOSA 27
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 10 0.700 None 1.000 8 10 1999 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.670 strong 0.750 8 7 1999 2017
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
disease Eye Diseases Disease or Syndrome 168 18 0.400 None 1.000 2 2003 2004
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 21 0.350 None 0.833 6 2 2004 2018
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
phenotype Eye Diseases Pathologic Function 125 2 0.300 None 1.000 1 2004 2004
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.110 None 1.000 1 2019 2019
Autosomal dominant retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.100 None 0.900 10 2 2000 2016
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2018 2018
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
disease Eye Diseases Disease or Syndrome 1 2 0.100 None 0 2
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum
disease Skin and Connective Tissue Diseases Disease or Syndrome 39 2 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
phenotype Finding 158 10 0.100 None 0
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change
phenotype Finding 24 1 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: 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: 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: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C4024765
Disease: Peripapillary chorioretinal atrophy
Peripapillary chorioretinal atrophy
disease Disease or Syndrome 2 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: 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: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
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: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram
phenotype Finding 21 0.100 None 0