SERPINA1, serpin family A member 1, 5265

N. diseases: 411; N. variants: 19
Source: BEFREE ×
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: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 1 1 0.350 None 1.000 5 1981 2013
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		group Digestive System Diseases Disease or Syndrome 10 2 0.050 None 1.000 5 2017 2018
CUI: C0030326
Disease: Panniculitis
Panniculitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 19 2 0.040 None 1.000 4 1988 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 895 168 0.040 None 1.000 4 2017 2019
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 151 7 0.040 None 1.000 4 1984 2016
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 359 66 0.240 None 1.000 4 1982 2015
CUI: C2717865
Disease: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis 		disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 86 3 0.040 None 1.000 4 2002 2014
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 937 50 0.040 None 1.000 4 2008 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3882 601 0.040 None 0.750 4 2011 2019
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1241 7 0.040 None 1.000 4 1982 1992
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1052 139 0.040 None 1.000 4 1985 2013
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 372 27 0.040 None 1.000 4 2014 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.040 None 0.750 4 1976 1982
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		group Respiratory Tract Diseases Disease or Syndrome 120 0.040 None 1.000 4 1989 2020
CUI: C4050407
Disease: Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 71 10 0.040 None 1.000 4 1994 2010
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1686 635 0.040 None 1.000 4 1988 2019
CUI: C0019693
Disease: HIV Infections
HIV Infections 		group Infections; Immune System Diseases Disease or Syndrome 721 47 0.340 None 1.000 4 2003 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 721 80 0.040 None 0.750 4 1976 1982
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 1994 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.040 None 1.000 4 2000 2019
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		disease Digestive System Diseases Disease or Syndrome 99 34 0.030 None 1.000 3 1981 1990
CUI: C0019158
Disease: Hepatitis
Hepatitis 		group Digestive System Diseases Disease or Syndrome 582 33 0.140 None 1.000 3 2006 2011
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2640 238 0.030 None 1.000 3 1985 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 1987 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2694 1598 0.030 None 1.000 3 2018 2019