SAG, S-antigen visual arrestin, 6295

N. diseases: 97; N. variants: 9
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: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		disease Anatomical Abnormality 25 0.100 None 0
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		disease Eye Diseases Disease or Syndrome 24 4 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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 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: C0020619
Disease: Hypogonadism
Hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 305 24 0.100 None 0
CUI: C0018975
Disease: Hemeralopia
Hemeralopia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 269 83 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: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.100 None 0
CUI: C3501847
Disease: Night blindness, congenital stationary, type 1
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 1995 1995
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 1995 1995
CUI: C4041558
Disease: Cone-rod synaptic disorder, congenital nonprogressive
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 1995 1995
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
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 1995 1995
CUI: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 0.300 None 1.000 1 1993 1993
CUI: C1864877
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
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 1995 1995
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
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 1995 1995
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
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 1995 1995
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 168 18 0.110 None 1.000 1 2019 2019
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		phenotype Laboratory or Test Result 32 478 0.100 None 1.000 1 2 2009 2009
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		phenotype Laboratory Procedure 56 535 0.100 None 1.000 1 2 2009 2009
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.010 None 1.000 1 2008 2008
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.010 None 1.000 1 2019 2019