RTN2, reticulon 2, 6253

N. diseases: 43; 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: C1858106
Disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 3 0.700 None 1.000 2 3 2012 2017
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.110 None 1.000 1 2001 2001
CUI: C0008055
Disease: Chikungunya Fever
Chikungunya Fever 		disease Infections Disease or Syndrome 137 10 0.100 None 0.929 14 2012 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 1.000 1 1 2015 2015
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 74 15 0.100 None 0
CUI: C1112443
Disease: Male sexual dysfunction
Male sexual dysfunction 		disease Disease or Syndrome 12 0.100 None 0
CUI: C1112442
Disease: Female sexual dysfunction
Female sexual dysfunction 		disease Mental or Behavioral Dysfunction 22 3 0.100 None 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C0520823
Disease: Patellar clonus
Patellar clonus 		phenotype Finding 6 0.100 None 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 2 0.100 None 0
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype Finding 28 1 0.100 None 0
CUI: C1846017
Disease: Progressive pes cavus
Progressive pes cavus 		phenotype Finding 9 0.100 None 0
CUI: C1846566
Disease: Degeneration of the lateral corticospinal tracts
Degeneration of the lateral corticospinal tracts 		phenotype Finding 21 0.100 None 0
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		phenotype Finding 39 4 0.100 None 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 1 0.100 None 0
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 15 3 0.100 None 0
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		phenotype Finding 19 4 0.100 None 0
CUI: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5 		phenotype Finding 34 0.100 None 0
CUI: C0278097
Disease: Abnormal male sexual function
Abnormal male sexual function 		disease Mental or Behavioral Dysfunction 12 0.100 None 0
CUI: C0009024
Disease: Clonus
Clonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 60 4 0.100 None 0
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease Digestive System Diseases Disease or Syndrome 60 12 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0037763
Disease: Spasm
Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0