GNB3, G protein subunit beta 3, 2784

N. diseases: 192; N. variants: 10
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: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
Night Blindness, Congenital Stationary, Type 1A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 19 0.300 None 0
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 0.300 None 0
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 8 0.300 None 0
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 26 9 0.300 None 0
CUI: C1840455
Disease: Mild myopia
Mild myopia
phenotype Eye Diseases Finding 1 0.100 None 0
CUI: C1840376
Disease: Elevated mean arterial pressure
Elevated mean arterial pressure
phenotype Cardiovascular Diseases Finding 10 1 0.100 None 0
CUI: C1840375
Disease: Elevated diastolic blood pressure
Elevated diastolic blood pressure
phenotype Cardiovascular Diseases Finding 14 1 0.100 None 0
CUI: C1840374
Disease: Elevated systolic blood pressure
Elevated systolic blood pressure
phenotype Cardiovascular Diseases Finding 14 1 0.100 None 0
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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0271183
Disease: Severe myopia
Severe myopia
disease Eye Diseases Disease or Syndrome 184 116 0.100 None 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
disease Eye Diseases Disease or Syndrome 168 18 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 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
Night blindness, congenital stationary, type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 0.300 None 0
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 0
Cone-rod synaptic disorder, congenital nonprogressive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 14 4 0.300 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation
disease Anatomical Abnormality 25 0.100 None 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease Eye Diseases Disease or Syndrome 52 59 0.010 None 1.000 1 1998 1998
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
disease Eye Diseases Disease or Syndrome 48 31 0.010 None 1.000 1 1998 1998
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.010 None 1.000 1 1998 1998
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.010 None 1.000 1 1998 1998