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: 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: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		phenotype Nervous System Diseases Finding 55 5 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.010 None 1.000 1 2014 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2009 2015
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: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.190 None 1.000 9 1 1997 2009
CUI: C4016663
Disease: ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY 		disease Finding 1 1 0.100 None 0 1
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: C4016662
Disease: ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY 		disease Finding 1 5 0.100 None 0 5
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.020 None 1.000 2 2002 2006
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 3 0.300 strong 1.000 1 2016 2016
CUI: C0234366
Disease: Ataxic
Ataxic 		phenotype Sign or Symptom 15 4 0.010 None 1.000 1 2009 2009
CUI: C1563937
Disease: Atherogenesis
Atherogenesis 		phenotype Cardiovascular Diseases Pathologic Function 59 0.300 None 1.000 1 2000 2000
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.300 None 1.000 1 2000 2000
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 1997 1997
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.100 None 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.070 None 1.000 7 1 1997 2009
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.100 None 0 1
CUI: C0009090
Disease: Cluttering
Cluttering 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 8 0.300 None 1.000 1 2000 2000