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: C3151061
Disease: RETINITIS PIGMENTOSA 47
RETINITIS PIGMENTOSA 47 		disease Disease or Syndrome 1 1 0.600 limited 0 1
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 6 0.600 None 1.000 2 6 1995 1998
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 7 0.650 strong 0.857 7 2 1995 2012
CUI: C0152026
Disease: Retinal Vasculitis
Retinal Vasculitis 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 10 0.010 None 1.000 1 1992 1992
CUI: C3551052
Disease: Night blindness, stationary
Night blindness, stationary 		disease Disease or Syndrome 10 0.010 None 1.000 1 2007 2007
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: 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: 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: C0018975
Disease: Hemeralopia
Hemeralopia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 12 0.100 None 0
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: 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: 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: C0206719
Disease: Central Neurocytoma
Central Neurocytoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 16 0.010 None 1.000 1 2001 2001
CUI: C0857306
Disease: Leishmania donovani disease
Leishmania donovani disease 		disease Disease or Syndrome 16 0.010 None 1.000 1 2017 2017
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		disease Eye Diseases Disease or Syndrome 24 4 0.100 None 0
CUI: C0031941
Disease: Pineal Gland Neoplasm
Pineal Gland Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 25 2 0.010 None 1.000 1 2010 2010
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		disease Anatomical Abnormality 25 0.100 None 0
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: C0031350
Disease: Pharyngitis
Pharyngitis 		disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 30 0.010 None 1.000 1 2011 2011
CUI: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 31 0.100 None 0
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 32 52 0.710 strong 1.000 3 1995 2009
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: C0346255
Disease: Oncocytoma, renal
Oncocytoma, renal 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 34 0.010 None 1.000 1 2019 2019
CUI: C0012813
Disease: Diverticulitis
Diverticulitis 		disease Digestive System Diseases Disease or Syndrome 38 13 0.010 None 1.000 1 2017 2017