ANO1, anoctamin 1, 55107

N. diseases: 175; 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: C0948779
Disease: Gastrointestinal hypomotility
Gastrointestinal hypomotility 		disease Digestive System Diseases Disease or Syndrome 1 0.020 None 1.000 2 2017 2019
CUI: C0010626
Disease: Embryonic cyst
Embryonic cyst 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Congenital Abnormality 1 0.010 None 1.000 1 2014 2014
CUI: C1266014
Disease: Canalicular adenoma
Canalicular adenoma 		disease Neoplasms Neoplastic Process 1 0.010 None < 0.001 1 2019 2019
CUI: C0013288
Disease: Dumping Syndrome
Dumping Syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C2750076
Disease: Miyoshi Muscular Dystrophy 3
Miyoshi Muscular Dystrophy 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 8 0.010 None 1.000 1 2010 2010
CUI: C0206673
Disease: Syringoma
Syringoma 		disease Neoplasms Neoplastic Process 3 0.010 None < 0.001 1 2017 2017
CUI: C0334392
Disease: Epithelial-myoepithelial carcinoma
Epithelial-myoepithelial carcinoma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C1882972
Disease: Salivary Gland Low Grade Cribriform Cystadenocarcinoma
Salivary Gland Low Grade Cribriform Cystadenocarcinoma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 9 28 0.010 None 1.000 1 2014 2014
CUI: C1275282
Disease: Low-grade fibromyxoid sarcoma
Low-grade fibromyxoid sarcoma 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2017 2017
CUI: C1333768
Disease: Gastric Gastrointestinal Stromal Tumor
Gastric Gastrointestinal Stromal Tumor 		disease Digestive System Diseases; Neoplasms Neoplastic Process 11 1 0.030 None 1.000 3 2012 2017
CUI: C1333500
Disease: Extragastrointestinal Gastrointestinal Stromal Tumor
Extragastrointestinal Gastrointestinal Stromal Tumor 		disease Digestive System Diseases; Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2012 2012
CUI: C0235394
Disease: Wasting
Wasting 		disease Nutritional and Metabolic Diseases Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C0796149
Disease: Scott Syndrome
Scott Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 15 0.010 None 1.000 1 2011 2011
CUI: C4042906
Disease: Mammary Analogue Secretory Carcinoma
Mammary Analogue Secretory Carcinoma 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2015 2015
CUI: C0334347
Disease: Eccrine spiradenoma
Eccrine spiradenoma 		disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2017 2017
CUI: C0267176
Disease: Gastroparesis with diabetes mellitus
Gastroparesis with diabetes mellitus 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 21 0.010 None 1.000 1 2011 2011
CUI: C1266086
Disease: Polymorphous low grade adenocarcinoma
Polymorphous low grade adenocarcinoma 		disease Neoplastic Process 23 1 0.010 None 1.000 1 2017 2017
CUI: C0152132
Disease: Hypertensive Retinopathy
Hypertensive Retinopathy 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 24 2 0.010 None 1.000 1 2019 2019
CUI: C0006266
Disease: Bronchospasm
Bronchospasm 		disease Respiratory Tract Diseases Disease or Syndrome 29 0.010 None 1.000 1 2020 2020
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 30 5 0.020 None 1.000 2 2008 2011
CUI: C0585186
Disease: Cutaneous hypersensitivity
Cutaneous hypersensitivity 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 31 0.010 None 1.000 1 2019 2019
CUI: C1300127
Disease: Perivascular Epithelioid Cell Neoplasms
Perivascular Epithelioid Cell Neoplasms 		group Neoplasms Neoplastic Process 31 0.010 None 1.000 1 2018 2018
CUI: C0037036
Disease: Sialorrhea
Sialorrhea 		disease Stomatognathic Diseases Disease or Syndrome 32 1 0.010 None 1.000 1 2018 2018
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 35 0.010 None 1.000 1 2019 2019