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: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
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: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
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: 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: 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: C0267792
Disease: Hepatobiliary disease
Hepatobiliary disease 		disease Digestive System Diseases Disease or Syndrome 14 0.010 None 1.000 1 1976 1976
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		disease Respiratory Tract Diseases Disease or Syndrome 91 4 0.310 None 1.000 1 1977 1977
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 1977 1977
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: 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: C0019080
Disease: Hemorrhage
Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 47 0.300 None 1.000 1 1978 1978
CUI: C4552766
Disease: Miscarriage
Miscarriage 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56 0.010 None 1.000 1 1978 1978
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.010 None 1.000 1 1980 1980
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 184 59 0.010 None < 0.001 1 1981 1981
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 1981 1981
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: C0042165
Disease: Anterior uveitis
Anterior uveitis 		disease Eye Diseases Disease or Syndrome 53 20 0.010 None 1.000 1 1982 1982
CUI: C0267809
Disease: Cirrhosis, Cryptogenic
Cirrhosis, Cryptogenic 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 15 5 0.020 None 1.000 2 1981 1983
CUI: C0009443
Disease: Common Cold
Common Cold 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 24 0.010 None 1.000 1 1983 1983
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 31 28 0.010 None 1.000 1 1983 1983
CUI: C0241876
Disease: Obstructive emphysema
Obstructive emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 1983 1983
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 28 69 0.010 None 1.000 1 1984 1984
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 105 23 0.010 None 1.000 1 1984 1984