ARL3, ADP ribosylation factor like GTPase 3, 403

N. diseases: 95; N. variants: 4
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: C4748442
Disease: JOUBERT SYNDROME 35
JOUBERT SYNDROME 35 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2018 2018
CUI: C4748536
Disease: RETINITIS PIGMENTOSA 83
RETINITIS PIGMENTOSA 83 		disease Disease or Syndrome 1 0.300 None 1.000 1 2016 2016
CUI: C0521770
Disease: Asteroid hyalosis
Asteroid hyalosis 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C0016242
Disease: Vitreous floaters
Vitreous floaters 		phenotype Finding 4 1 0.100 None 0
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		disease Disease or Syndrome 5 65 0.300 moderate 1.000 1 2018 2018
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 6 0.220 None 1.000 2 2016 2017
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality 17 1 0.100 None 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 26 31 0.300 None 1.000 1 2018 2018
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 29 7 0.020 None 1.000 2 2005 2016
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 31 1 0.100 None 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 42 1 0.200 None 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 57 1 0.100 None 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		phenotype Finding 60 0.100 None 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 61 2 0.100 None 0
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 69 317 0.200 None 1.000 1 2006 2006
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		disease Anatomical Abnormality 70 0.100 None 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 75 1 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease Congenital Abnormality 85 28 0.100 None 0
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 2019 2019
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 87 3 0.100 None 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype Finding 89 0.100 None 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 92 14 0.100 None 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 93 6 0.100 None 0