FBRS, fibrosin, 64319

N. diseases: 47; N. variants: 2
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: C0031144
Disease: Chronic peritoneal effusion (disorder)
Chronic peritoneal effusion (disorder) 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 0.010 None 1.000 1 2004 2004
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 17 0.020 None 1.000 2 2017 2017
CUI: C0011389
Disease: Dental Plaque
Dental Plaque 		phenotype Stomatognathic Diseases Disease or Syndrome 27 0.010 None 1.000 1 2000 2000
CUI: C0085593
Disease: Chills
Chills 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 34 0.010 None 1.000 1 2017 2017
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 41 12 0.010 None 1.000 1 2013 2013
CUI: C0003175
Disease: Anthrax disease
Anthrax disease 		disease Infections Disease or Syndrome 66 3 0.010 None 1.000 1 2011 2011
CUI: C0036323
Disease: Schistosomiasis
Schistosomiasis 		disease Infections Disease or Syndrome 152 4 0.010 None 1.000 1 1996 1996
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.010 None 1.000 1 2013 2013
CUI: C0016059
Disease: Fibrosis
Fibrosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 184 0.010 None 1.000 1 1999 1999
CUI: C0730328
Disease: Central Serous Chorioretinopathy
Central Serous Chorioretinopathy 		disease Eye Diseases Disease or Syndrome 211 10 0.010 None 1.000 1 2019 2019
CUI: C0342649
Disease: Vascular calcification
Vascular calcification 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 257 3 0.010 None 1.000 1 2019 2019
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 1996 1996
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 645 213 0.010 None 1.000 1 2018 2018
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 649 224 0.020 None 1.000 2 2019 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.010 None 1.000 1 2015 2015
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 1996 1996
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.010 None 1.000 1 2016 2016
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.010 None 1.000 1 2017 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.010 None 1.000 1 2019 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2019 2019
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 2
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 1999 1999
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2019 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2018 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.020 None 1.000 2 2017 2020