FLG, filaggrin, 2312

N. diseases: 173; N. variants: 39
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: C4021978
Disease: Abnormality of salivation
Abnormality of salivation 		phenotype Finding 3 1 0.100 None 0 1
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 136 10 0.010 None 1.000 1 2017 2017
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 2019 2019
CUI: C1276072
Disease: Adult atopic dermatitis
Adult atopic dermatitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2018 2018
CUI: C0699949
Disease: airway disease
airway disease 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 198 1 0.010 None 1.000 1 2018 2018
CUI: C0678306
Disease: alcohol sensitivity
alcohol sensitivity 		phenotype Finding 3 0.300 None 1.000 1 2013 2013
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 371 55 0.040 None 1.000 4 1 2008 2012
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		phenotype Immune System Diseases Pathologic Function 197 1019 0.100 None 1.000 1 1 2017 2017
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 446 176 0.100 None 0.900 10 1 2009 2018
CUI: C3662483
Disease: Allergic sensitization
Allergic sensitization 		disease Disease or Syndrome 85 26 0.100 None 0.917 12 1 2009 2020
CUI: C0559469
Disease: Allergy to eggs
Allergy to eggs 		phenotype Immune System Diseases Disease or Syndrome 13 3 0.010 None 1.000 1 2013 2013
CUI: C0559470
Disease: Allergy to peanuts
Allergy to peanuts 		phenotype Immune System Diseases Disease or Syndrome 36 5 0.050 None 1.000 5 2011 2017
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.020 None 1.000 2 2007 2009
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		disease Skin and Connective Tissue Diseases Disease or Syndrome 114 54 0.020 None 1.000 2 2007 2009
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 124 0.020 None 1.000 2 2013 2017
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 2013 2017
CUI: C4554601
Disease: Amyloidosis cutis dyschromia
Amyloidosis cutis dyschromia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 84 1 0.020 None 1.000 2 2013 2020
CUI: C0002792
Disease: anaphylaxis
anaphylaxis 		phenotype Immune System Diseases Disease or Syndrome 180 4 0.010 None 1.000 1 2009 2009
CUI: C0002873
Disease: Anemia of chronic disease
Anemia of chronic disease 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 100 1 0.020 None 1.000 2 2013 2020
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 1.000 4 1 2006 2006
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 450 89 0.010 None 1.000 1 2007 2007
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.200 None 0.906 53 6 2006 2019
CUI: C0947961
Disease: Atopic disorders
Atopic disorders 		group Disease or Syndrome 29 2 0.060 None 1.000 6 2011 2015
CUI: C0497391
Disease: atopic eczema/dermatitis (non-specific)
atopic eczema/dermatitis (non-specific) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2007 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 1.000 1 1 2006 2006