RNF170, ring finger protein 170, 81790

N. diseases: 11; 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: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 3 0.200 None 0
Distal sensory impairment of all modalities
phenotype Finding 9 0.100 None 0
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive
phenotype Finding 15 6 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C1837016
Disease: Gait instability, worse in the dark
Gait instability, worse in the dark
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.100 None 0
CUI: C1837015
Disease: ATAXIA, SENSORY, AUTOSOMAL DOMINANT
ATAXIA, SENSORY, AUTOSOMAL DOMINANT
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 2 0.700 None 1.000 1 2 2011 2011
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 1 0.120 None 1.000 2 2011 2015
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.010 None 1.000 1 2019 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.010 None 1.000 1 2019 2019