TTPA, alpha tocopherol transfer protein, 7274

N. diseases: 147; N. variants: 31
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: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 32 1.000 None 1.000 38 29 1985 2015
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 6 0.400 None 1.000 12 1996 2018
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.400 None 1.000 1 2000 2000
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.400 None 1.000 1 2000 2000
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.350 None 1.000 6 1 2000 2014
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.310 None 1.000 2 2001 2006
CUI: C0522345
Disease: Reflex, Acoustic, Abnormal
Reflex, Acoustic, Abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 5 0.300 None 1.000 1 2000 2000
CUI: C0558846
Disease: Reflex, Triceps, Absent
Reflex, Triceps, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0558847
Disease: Reflex, Biceps, Absent
Reflex, Biceps, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0743002
Disease: Abnormal Deep Tendon Reflex
Abnormal Deep Tendon Reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0751468
Disease: Bulbocavernosus Reflex, Decreased
Bulbocavernosus Reflex, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0751469
Disease: Bulbocavernousus Reflex Absent
Bulbocavernousus Reflex Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0576612
Disease: Reflex, Anal, Absent
Reflex, Anal, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0278211
Disease: Reflex, Corneal, Absent
Reflex, Corneal, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0277850
Disease: Reflex, Pendular
Reflex, Pendular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0233726
Disease: Aprosodia
Aprosodia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2000 2000
CUI: C0233769
Disease: Micropsia
Micropsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 6 0.300 None 1.000 1 2000 2000
CUI: C0233771
Disease: Macropsia
Macropsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 6 0.300 None 1.000 1 2000 2000
CUI: C0234784
Disease: Reflex, Gag, Absent
Reflex, Gag, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0241772
Disease: Reflex, Deep Tendon, Absent
Reflex, Deep Tendon, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000
CUI: C0260662
Disease: Hearing problem
Hearing problem 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 3 0.300 None 1.000 1 2000 2000
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 15 0.300 None 1.000 1 2000 2000
CUI: C0271185
Disease: Metamorphopsia
Metamorphopsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 18 1 0.300 None 1.000 1 2000 2000
CUI: C0277839
Disease: Hoffman's Reflex
Hoffman's Reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2000 2000