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: C0013595
Disease: Eczema
Eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.700 moderate 0.961 304 16 2005 2020
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 10 18 0.700 None 1.000 84 18 1985 2019
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.500 None 0.972 289 15 2005 2020
CUI: C0011603
Disease: Dermatitis
Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 496 16 0.400 None 1.000 24 1 2010 2020
CUI: C1853965
Disease: Dermatitis, Atopic, 2
Dermatitis, Atopic, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 2 5 0.400 None 1.000 1 5 2006 2006
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 110 3 0.330 None 1.000 4 2011 2019
CUI: C0086196
Disease: Eczema, Infantile
Eczema, Infantile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 36 0.300 None 1.000 4 2009 2014
CUI: C0162351
Disease: Contact hypersensitivity
Contact hypersensitivity 		phenotype Skin and Connective Tissue Diseases Pathologic Function 71 0.300 None 1.000 1 2015 2015
CUI: C0678306
Disease: alcohol sensitivity
alcohol sensitivity 		phenotype Finding 3 0.300 None 1.000 1 2013 2013
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: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 382 6 0.200 None 1.000 15 1 2006 2019
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.200 None 0.900 10 1 2005 2019
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 303 317 0.170 None 1.000 8 1 2006 2019
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.140 None 1.000 4 1 2012 2019
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.110 None 1.000 5 1 2006 2010
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.100 None 1.000 21 1 2006 2019
CUI: C0239816
Disease: Hand eczema
Hand eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 17 8 0.100 None 0.846 13 2007 2019
CUI: C3662483
Disease: Allergic sensitization
Allergic sensitization 		disease Disease or Syndrome 85 26 0.100 None 0.917 12 1 2009 2020
CUI: C0033860
Disease: Psoriasis
Psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.100 None 0.909 11 3 2007 2019
CUI: C4554344
Disease: IgE-mediated food allergy
IgE-mediated food allergy 		disease Immune System Diseases Disease or Syndrome 126 16 0.100 None 0.909 11 2009 2019
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: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 6 1 1966 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 6 1 1966 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 6 1 1966 2013
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