ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
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: C0152200
Disease: Achromatopsia
Achromatopsia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 26 63 0.760 strong 1.000 6 10 2015 2019
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		disease Disease or Syndrome 1 10 0.700 strong 1.000 2 10 2015 2015
CUI: C0009398
Disease: Color vision defect
Color vision defect 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 94 4 0.400 None 1.000 1 2015 2015
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.400 None 1.000 1 2015 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.310 None 1.000 2 2015 2016
CUI: C2930617
Disease: Pulmonary Fibrosis - from Asbestos Exposure
Pulmonary Fibrosis - from Asbestos Exposure 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 14 0.300 None 1.000 1 2014 2014
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 24 0.300 None 1.000 1 2015 2015
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 9 1 0.300 None 1.000 1 2015 2015
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.300 None 1.000 1 2017 2017
CUI: C0751042
Disease: Color Blindness, Inherited
Color Blindness, Inherited 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2015 2015
CUI: C0751043
Disease: Monochromatopsia
Monochromatopsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2015 2015
CUI: C0036457
Disease: Scrapie
Scrapie 		disease Infections; Nervous System Diseases; Animal Diseases Disease or Syndrome 8 0.300 None 1.000 1 2013 2013
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 22 16 0.300 None 1.000 1 2013 2013
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 137 52 0.300 None 1.000 1 2013 2013
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 25 12 0.300 None 1.000 1 2015 2015
CUI: C0155018
Disease: Color Blindness, Acquired
Color Blindness, Acquired 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2015 2015
CUI: C0242225
Disease: Color blindness
Color blindness 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.300 None 1.000 1 2015 2015
CUI: C0239777
Disease: Color Blindness, Green
Color Blindness, Green 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2015 2015
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 15 5 0.300 None 1.000 1 2015 2015
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 23 2 0.300 None 1.000 1 2013 2013
CUI: C0003949
Disease: Asbestosis
Asbestosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 47 2 0.300 None 1.000 1 2014 2014
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.180 None 0.889 9 8 2006 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 7 2011 2011
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 308 454 0.100 None 1.000 1 1 2009 2009