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: C0162627
Disease: Skin Diseases, Bacterial
Skin Diseases, Bacterial 		group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2013 2013
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: 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: C0475811
Disease: Disorder of keratinization
Disorder of keratinization 		group Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C0474892
Disease: Inherited disorder of keratinization
Inherited disorder of keratinization 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.010 None 1.000 1 2006 2006
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 413 787 0.010 None 1.000 1 2016 2016
CUI: C0473574
Disease: Inflammatory linear verrucous epidermal nevus
Inflammatory linear verrucous epidermal nevus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
Signs and Symptoms, Respiratory 		group Pathological Conditions, Signs and Symptoms Sign or Symptom 73 10 0.010 None 1.000 1 2016 2016
CUI: C0586407
Disease: Skin symptom
Skin symptom 		phenotype Sign or Symptom 19 0.010 None 1.000 1 2014 2014
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 10 0.010 None 1.000 1 2013 2013
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.010 None 1.000 1 2017 2017
CUI: C4707581
Disease: Molluscum contagiosum skin infection
Molluscum contagiosum skin infection 		disease Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.010 None 1.000 1 1 2018 2018
CUI: C0026393
Disease: Molluscum Contagiosum
Molluscum Contagiosum 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 18 0.010 None 1.000 1 2017 2017
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 0.010 None 1.000 1 1 2018 2018
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 117 50 0.010 None 1.000 1 2017 2017
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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None < 0.001 1 1 2016 2016
CUI: C0432300
Disease: Autosomal dominant ichthyosis vulgaris
Autosomal dominant ichthyosis vulgaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.010 None 1.000 1 1991 1991
CUI: C0346210
Disease: Vulval intraepithelial neoplasia
Vulval intraepithelial neoplasia 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 29 0.010 None 1.000 1 1993 1993
CUI: C0276262
Disease: Verruca plana
Verruca plana 		disease Infections; Skin and Connective Tissue Diseases Acquired Abnormality 4 0.010 None 1.000 1 2009 2009
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 18 7 0.010 None 1.000 1 2009 2009
CUI: C0263224
Disease: Flexural atopic dermatitis
Flexural atopic dermatitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2008 2008
CUI: C0262974
Disease: Subacute dermatitis
Subacute dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2012 2012