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: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 367 5 0.010 None 1.000 1 2014 2014
CUI: C0206139
Disease: Lichen Planus, Oral
Lichen Planus, Oral 		disease Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 257 20 0.010 None 1.000 1 2017 2017
CUI: C0162817
Disease: Skin Diseases, Eczematous
Skin Diseases, Eczematous 		group Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.010 None 1.000 1 2018 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2015 2015
CUI: C0334166
Disease: Pseudoainhum
Pseudoainhum 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0344183
Disease: Exercise anaphylaxis
Exercise anaphylaxis 		disease Immune System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		disease Infections Disease or Syndrome 429 42 0.010 None 1.000 1 2015 2015
CUI: C0037285
Disease: Skin Manifestations
Skin Manifestations 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 5 0.010 None 1.000 1 2020 2020
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.010 None 1.000 1 1 2018 2018
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 68 69 0.010 None 1.000 1 2020 2020
CUI: C0342759
Disease: Primary lactose intolerance
Primary lactose intolerance 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 2013 2013
CUI: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.010 None 1.000 1 2014 2014
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2015 2015
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 2019 2019
CUI: C0023652
Disease: Lichen Sclerosus et Atrophicus
Lichen Sclerosus et Atrophicus 		disease Skin and Connective Tissue Diseases Disease or Syndrome 64 2 0.010 None 1.000 1 1998 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 1991 1991
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		phenotype Infections; Skin and Connective Tissue Diseases Disease or Syndrome 95 2 0.010 None 1.000 1 2012 2012
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1718 245 0.010 None 1.000 1 2015 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 2011 2011
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.010 None < 0.001 1 2015 2015
CUI: C0006849
Disease: Oral candidiasis
Oral candidiasis 		disease Infections; Stomatognathic Diseases Disease or Syndrome 58 2 0.010 None 1.000 1 1 2017 2017
CUI: C2004493
Disease: Leukemia, B-Cell
Leukemia, B-Cell 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 239 2 0.010 None 1.000 1 1995 1995
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 1991 1991
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2008 2008