RNF170, ring finger protein 170, 81790

N. diseases: 12; N. variants: 2
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: C1837015
Disease: ATAXIA, SENSORY, AUTOSOMAL DOMINANT
ATAXIA, SENSORY, AUTOSOMAL DOMINANT
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 2 0.600 3 2 2007 2011
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 166 0.500 strong 0
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 27 0.130 1.000 3 2011 2016
Distal sensory impairment of all modalities
phenotype Finding 8 0.100 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
phenotype Sign or Symptom 194 0.100 0
CUI: C0278124
Disease: Absent tendon reflex
Absent tendon reflex
phenotype Finding 133 0.100 0
CUI: C0241772
Disease: Reflex, Deep Tendon, Absent
Reflex, Deep Tendon, Absent
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 136 0.100 0
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive
phenotype Finding 7 1 0.100 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 136 0.100 0
CUI: C0037921
Disease: Spinal ataxia
Spinal ataxia
disease Disease or Syndrome 9 0.100 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 144 1 0.100 0
CUI: C1837016
Disease: Gait instability, worse in the dark
Gait instability, worse in the dark
phenotype Finding 1 0.100 0