KEAP1, kelch like ECH associated protein 1, 9817

N. diseases: 251; N. variants: 4
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: C4020704
Disease: Sertoli cell neoplasm
Sertoli cell neoplasm 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 3 0.100 None 0
CUI: C0022594
Disease: Keratosis Blennorrhagica
Keratosis Blennorrhagica 		disease Skin and Connective Tissue Diseases Disease or Syndrome 5 0.300 None 1.000 1 2010 2010
CUI: C0086501
Disease: Keratoma
Keratoma 		disease Skin and Connective Tissue Diseases Acquired Abnormality 5 0.300 None 1.000 1 2010 2010
CUI: C0521622
Disease: Bilateral hydronephrosis
Bilateral hydronephrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2017 2017
CUI: C0302859
Disease: Euthyroid Goiter
Euthyroid Goiter 		disease Endocrine System Diseases Disease or Syndrome 7 1 0.300 None 1.000 1 2013 2013
CUI: C1847973
Disease: Persistent Polyclonal B-Cell Lymphocytosis
Persistent Polyclonal B-Cell Lymphocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C0152014
Disease: Atrophy of pancreas
Atrophy of pancreas 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C0001420
Disease: Papillary adenocarcinoma
Papillary adenocarcinoma 		disease Neoplasms Neoplastic Process 11 3 0.010 None 1.000 1 2011 2011
CUI: C1565321
Disease: Cholera Infantum
Cholera Infantum 		disease Digestive System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2010 2010
CUI: C4534309
Disease: Acute lung injury/Acute respiratory distress syndrome (ARDS)
Acute lung injury/Acute respiratory distress syndrome (ARDS) 		disease Disease or Syndrome 12 0.010 None 1.000 1 2010 2010
CUI: C1306571
Disease: Hepatic Insufficiency
Hepatic Insufficiency 		phenotype Digestive System Diseases Pathologic Function 13 0.300 None 1.000 1 2018 2018
CUI: C0334596
Disease: Medulloepithelioma
Medulloepithelioma 		disease Neoplasms Neoplastic Process 13 0.100 None 0
CUI: C4024934
Disease: Cerebellar medulloblastoma
Cerebellar medulloblastoma 		disease Neoplasms Neoplastic Process 13 0.100 None 0
CUI: C0039584
Disease: Testicular Diseases
Testicular Diseases 		group Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2019 2019
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		disease Neoplasms Neoplastic Process 20 133 0.100 None 0
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		disease Neoplasms Neoplastic Process 24 14 0.100 None 0
CUI: C0559031
Disease: Functional Gastrointestinal Disorders
Functional Gastrointestinal Disorders 		disease Digestive System Diseases Disease or Syndrome 33 0.300 None 1.000 1 2010 2010
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 37 12 0.010 None 1.000 1 2018 2018
CUI: C0238065
Disease: Secondary Biliary Cholangitis
Secondary Biliary Cholangitis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 42 0.300 None 1.000 1 2018 2018
CUI: C4551595
Disease: Biliary Cirrhosis, Primary, 1
Biliary Cirrhosis, Primary, 1 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 42 0.300 None 1.000 1 2018 2018
CUI: C0022593
Disease: Keratosis
Keratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 43 10 0.300 None 1.000 1 2010 2010
CUI: C0016978
Disease: gallbladder neoplasm
gallbladder neoplasm 		disease Digestive System Diseases; Neoplasms Neoplastic Process 51 6 0.310 None 1.000 1 2008 2008
CUI: C0342208
Disease: Multinodular goiter
Multinodular goiter 		disease Neoplasms; Endocrine System Diseases Disease or Syndrome 51 6 0.110 None 1.000 1 2013 2013
CUI: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 52 0.200 None 1.000 1 2011 2011
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 52 14 0.010 None 1.000 1 2020 2020