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: C0010201
Disease: Chronic cough
Chronic cough 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 14 1 0.100 None 0 1
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 2 0.100 None 0 1
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.010 None < 0.001 1 1975 1975
CUI: C0004626
Disease: Pneumonia, Bacterial
Pneumonia, Bacterial 		group Infections; Respiratory Tract Diseases Disease or Syndrome 66 2 0.010 None < 0.001 1 2017 2017
CUI: C0018081
Disease: Gonorrhea
Gonorrhea 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 261 7 0.010 None < 0.001 1 1989 1989
CUI: C0275518
Disease: Acute infectious disease
Acute infectious disease 		group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 198 5 0.010 None < 0.001 1 2006 2006
CUI: C0009088
Disease: Cluster Headache
Cluster Headache 		disease Nervous System Diseases Disease or Syndrome 38 13 0.010 None < 0.001 1 2010 2010
CUI: C0030848
Disease: Peyronie Disease
Peyronie Disease 		disease Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 41 1 0.010 None < 0.001 1 2004 2004
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 30 39 0.010 None < 0.001 1 1996 1996
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 184 59 0.010 None < 0.001 1 1981 1981
CUI: C0815120
Disease: liver scarring
liver scarring 		disease Disease or Syndrome 2 0.010 None < 0.001 1 2018 2018
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.020 None 0.500 2 1994 2012
CUI: C0042164
Disease: Uveitis
Uveitis 		disease Eye Diseases Disease or Syndrome 247 43 0.020 None 0.500 2 1981 2005
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		disease Digestive System Diseases Disease or Syndrome 102 33 0.030 None 0.667 3 1988 1994
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: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.040 None 0.750 4 1976 1982
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.040 None 0.750 4 2011 2019
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.480 None 0.778 9 2 1995 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.100 None 0.846 13 1986 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.400 None 0.857 14 1986 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.100 None 0.857 14 1986 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.070 None 0.857 7 1996 2011