ROBO3, roundabout guidance receptor 3, 64221

N. diseases: 154; N. variants: 16
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.
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 11 0.800 None 1.000 12 11 2004 2015
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
disease Musculoskeletal Diseases Disease or Syndrome 3 0.400 None 1.000 12 2006 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.310 None 1.000 1 4 2008 2008
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.190 None 1.000 9 1 2004 2019
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Infections Disease or Syndrome 1471 42 0.100 None 1.000 33 2007 2020
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.100 None 1.000 19 2007 2019
CUI: C0021400
Disease: Influenza
Influenza
disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.100 None 1.000 18 2011 2019
CUI: C2062441
Disease: Influenza A
Influenza A
disease Disease or Syndrome 563 19 0.100 None 1.000 15 2009 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 11 2000 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis
disease Musculoskeletal Diseases Disease or Syndrome 20 17 0.100 None 0
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C2062713
Disease: Progressive ophthalmoplegia
Progressive ophthalmoplegia
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons
phenotype Finding 30 3 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: C4024794
Disease: Horizontal supranuclear gaze palsy
Horizontal supranuclear gaze palsy
disease Disease or Syndrome 3 1 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C0339651
Disease: Horizontal gaze palsy
Horizontal gaze palsy
disease Eye Diseases Disease or Syndrome 1 1 0.070 None 1.000 7 1 2005 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.070 None 1.000 7 2012 2020
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.060 None 1.000 6 2008 2019