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: 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: 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: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 80 11 0.090 None 1.000 9 2005 2019
CUI: C1832097
Disease: EPIDERMAL DIFFERENTIATION COMPLEX
EPIDERMAL DIFFERENTIATION COMPLEX 		disease Disease or Syndrome 38 3 0.090 None 0.889 9 2005 2019
CUI: C0259817
Disease: Xerosis
Xerosis 		disease Digestive System Diseases; Nervous System Diseases Disease or Syndrome 4 0.080 None 1.000 8 2004 2018
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 10 0.080 None 1.000 8 2007 2018
CUI: C0947961
Disease: Atopic disorders
Atopic disorders 		group Disease or Syndrome 29 2 0.060 None 1.000 6 2011 2015
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		disease Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 183 40 0.060 None 1.000 6 2010 2018
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.050 None 1.000 5 1991 2018
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 255 80 0.050 None 1.000 5 2007 2018
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.050 None 1.000 5 2012 2020
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: C0035455
Disease: Rhinitis
Rhinitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 178 20 0.040 None 1.000 4 2014 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: C2720163
Disease: Placental Steroid Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.040 None 1.000 4 2007 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.040 None 1.000 4 2014 2019
CUI: C0162823
Disease: Dermatitis, Irritant
Dermatitis, Irritant 		disease Skin and Connective Tissue Diseases Disease or Syndrome 29 0.040 None 1.000 4 2008 2013
CUI: C1276071
Disease: Childhood atopic dermatitis
Childhood atopic dermatitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 13 0.030 None 1.000 3 2008 2019
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 43 1 0.030 None 1.000 3 2011 2013
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 64 20 0.030 None 1.000 3 2005 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.030 None 1.000 3 1999 2019
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 30 4 0.030 None 1.000 3 2008 2015
CUI: C0476227
Disease: pricking of skin
pricking of skin 		phenotype Sign or Symptom 65 1 0.030 None 1.000 3 2012 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2014 2019