SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
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: C0030328
Disease: Panniculitis, Nodular Nonsuppurative
Panniculitis, Nodular Nonsuppurative 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.320 None 1.000 3 1982 1988
CUI: C0006542
Disease: Byssinosis
Byssinosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 1 0.020 None 1.000 2 1993 1994
CUI: C0241876
Disease: Obstructive emphysema
Obstructive emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 1983 1983
CUI: C0343972
Disease: Schistosomal splenomegaly
Schistosomal splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1 0.010 None 1.000 1 1978 1978
CUI: C0743188
Disease: diarrhea persistent
diarrhea persistent 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C4087121
Disease: Non-cirrhotic portal hypertension
Non-cirrhotic portal hypertension 		disease Digestive System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0337437
Disease: Glucagon measurement
Glucagon measurement 		phenotype Laboratory Procedure 2 2 0.100 None 1.000 1 1 2017 2017
CUI: C0409667
Disease: Juvenile Chronic Polyarthritis
Juvenile Chronic Polyarthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1977 1977
CUI: C0747708
Disease: Pneumothorax, recurrent
Pneumothorax, recurrent 		disease Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C0815120
Disease: liver scarring
liver scarring 		disease Disease or Syndrome 2 0.010 None < 0.001 1 2018 2018
CUI: C3501835
Disease: alpha-1-Antitrypsin Deficiency, Autosomal Recessive
alpha-1-Antitrypsin Deficiency, Autosomal Recessive 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C1394290
Disease: Cyanotic heart disease
Cyanotic heart disease 		disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C1717804
Disease: Emphysema or COPD
Emphysema or COPD 		disease Disease or Syndrome 3 0.010 None 1.000 1 2013 2013
CUI: C2827436
Disease: Liver Disease Associated with Cystic Fibrosis
Liver Disease Associated with Cystic Fibrosis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		disease Disease or Syndrome 3 7 0.010 None 1.000 1 2019 2019
CUI: C0014849
Disease: Esophageal and Gastric Varices
Esophageal and Gastric Varices 		disease Digestive System Diseases Acquired Abnormality 4 0.010 None 1.000 1 2007 2007
CUI: C0012819
Disease: Diverticular disease of colon
Diverticular disease of colon 		disease Digestive System Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2019 2019
CUI: C0518989
Disease: Acute diverticulitis
Acute diverticulitis 		disease Digestive System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0685682
Disease: Single naris
Single naris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 5 0.010 None 1.000 1 2000 2000
CUI: C1859648
Disease: Asthma, Nasal Polyps, And Aspirin Intolerance
Asthma, Nasal Polyps, And Aspirin Intolerance 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 5 0.010 None 1.000 1 1995 1995
CUI: C0086181
Disease: Intravenous Drug Abuse
Intravenous Drug Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2001 2001
CUI: C0334489
Disease: Pancreatoblastoma
Pancreatoblastoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 6 0.010 None 1.000 1 1992 1992
CUI: C1608955
Disease: Mycobacterium abscessus Infection
Mycobacterium abscessus Infection 		disease Infections Disease or Syndrome 6 0.010 None 1.000 1 2007 2007
CUI: C1858680
Disease: Familial encephalopathy with neuroserpin inclusion bodies
Familial encephalopathy with neuroserpin inclusion bodies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 2011 2011
CUI: C0948120
Disease: Hepatic siderosis
Hepatic siderosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2015 2015