ANTICHYMOTRYPSIN BOCHUM 1 PHENOTYPE
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Cholinergic urticaria
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1980 |
1980 |
Urticaria due to cold
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases; Wounds and Injuries
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1980 |
1980 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.030 |
None |
1.000 |
3 |
|
1985 |
1993 |
alpha 1-Antitrypsin Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
73
|
48
|
0.030 |
None |
0.667 |
3 |
|
1985 |
1990 |
Decreased Concentration
|
phenotype |
|
Sign or Symptom
|
27
|
1
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Chronic active hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
122
|
34
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Pseudotumor Cerebri
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
33
|
8
|
0.010 |
None |
1.000 |
1 |
|
1985 |
1985 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.030 |
None |
1.000 |
3 |
|
1987 |
2001 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.100 |
None |
0.926 |
68 |
2
|
1988 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.050 |
None |
1.000 |
5 |
|
1988 |
2019 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
1.000 |
17 |
|
1990 |
2020 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.040 |
None |
1.000 |
4 |
|
1990 |
2019 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Generalized osteoarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
63
|
10
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Idiopathic osteoarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
63
|
12
|
0.010 |
None |
1.000 |
1 |
|
1990 |
1990 |
Cerebrovascular Disorders
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
56
|
0.030 |
None |
1.000 |
3 |
|
1992 |
2001 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.070 |
None |
1.000 |
7 |
1
|
1993 |
2020 |
Lung Diseases, Obstructive
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
104
|
4
|
0.030 |
None |
1.000 |
3 |
1
|
1993 |
1999 |
Inclusion Body Myopathy, Sporadic
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
84
|
5
|
0.020 |
None |
1.000 |
2 |
|
1993 |
2004 |
ALZHEIMER DISEASE 2
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
16
|
2
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Malnutrition
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
417
|
29
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Machado-Joseph Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
135
|
12
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.020 |
None |
1.000 |
2 |
|
1995 |
2006 |