FLCN, folliculin, 201163

N. diseases: 160; N. variants: 127
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: C2608055
Disease: Hereditary Renal Cell Carcinoma
Hereditary Renal Cell Carcinoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 8 2 0.010 None 1.000 1 2020 2020
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 533 8 0.010 None 1.000 1 2020 2020
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease
disease Hemic and Lymphatic Diseases Disease or Syndrome 29 2 0.010 None 1.000 1 2019 2019
CUI: C0338573
Disease: Cerebral venous sinus thrombosis
Cerebral venous sinus thrombosis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 17 1 0.010 None 1.000 1 2019 2019
CUI: C0398597
Disease: Histiocytic syndrome
Histiocytic syndrome
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2019 2019
CUI: C2363819
Disease: Paucigranulocytic asthma
Paucigranulocytic asthma
disease Disease or Syndrome 10 0.010 None 1.000 1 2019 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2019 2019
Aspirin exacerbated respiratory disease
disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 94 32 0.010 None 1.000 1 2018 2018
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder
group Hemic and Lymphatic Diseases Disease or Syndrome 288 22 0.010 None 1.000 1 2018 2018
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.010 None 1.000 1 2018 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.010 None 1.000 1 2018 2018
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.010 None 1.000 1 2018 2018
Familial cerebral cavernous malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 4 1 0.010 None 1.000 1 2017 2017
CUI: C0264423
Disease: Asthma, Occupational
Asthma, Occupational
disease Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome 42 2 0.010 None 1.000 1 2017 2017
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.310 limited 1.000 1 2017 2017
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 195 54 0.010 None 1.000 1 2017 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2017 2017
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2017 2017
CUI: C4025027
Disease: Repeated pneumothoraces
Repeated pneumothoraces
disease Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.010 None 1.000 1 2017 2017
CUI: C0023798
Disease: Lipoma
Lipoma
disease Neoplasms Neoplastic Process 87 9 0.300 strong 1.000 1 2016 2016
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2016 2016
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 47 8 0.010 None 1.000 1 2016 2016
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2016 2016
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.010 None 1.000 1 2016 2016