HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
disease |
|
Disease or Syndrome
|
5
|
4
|
0.800 |
definitive |
1.000 |
12 |
4
|
1991 |
2019 |
Methylenetetrahydrofolate reductase deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
5
|
4
|
0.700 |
definitive |
1.000 |
12 |
4
|
1991 |
2019 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1430
|
290
|
0.600 |
None |
1.000 |
31 |
3
|
1997 |
2019 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
863
|
307
|
0.600 |
None |
1.000 |
11 |
5
|
2006 |
2015 |
Unipolar Depression
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
510
|
137
|
0.600 |
None |
1.000 |
11 |
3
|
1997 |
2020 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1432
|
769
|
0.500 |
None |
0.912 |
110 |
8
|
1991 |
2019 |
Cerebrovascular accident
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1515
|
412
|
0.500 |
None |
0.938 |
87 |
4
|
1997 |
2019 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2217
|
1332
|
0.500 |
None |
0.859 |
61 |
8
|
1997 |
2019 |
Deep Vein Thrombosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
217
|
76
|
0.500 |
None |
0.931 |
28 |
6
|
1997 |
2020 |
Spina Bifida
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
130
|
58
|
0.500 |
None |
0.962 |
24 |
4
|
1995 |
2017 |
Meningomyelocele
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
72
|
23
|
0.470 |
None |
1.000 |
7 |
4
|
1999 |
2015 |
Anencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
31
|
10
|
0.440 |
None |
1.000 |
4 |
2
|
1996 |
2015 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
1052
|
139
|
0.440 |
strong |
1.000 |
4 |
2
|
1998 |
2020 |
Hyperhomocysteinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
225
|
45
|
0.400 |
None |
0.927 |
259 |
6
|
1995 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5011
|
1186
|
0.400 |
None |
0.932 |
113 |
12
|
1996 |
2019 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
291
|
122
|
0.400 |
None |
0.914 |
100 |
5
|
1995 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6481
|
2154
|
0.400 |
None |
0.890 |
99 |
10
|
2002 |
2020 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6500
|
2145
|
0.400 |
None |
0.890 |
99 |
10
|
2002 |
2020 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1551
|
382
|
0.400 |
None |
0.923 |
89 |
6
|
1996 |
2020 |
Childhood Acute Lymphoblastic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1086
|
259
|
0.400 |
None |
0.917 |
71 |
8
|
1999 |
2020 |
Thrombophilia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
149
|
43
|
0.400 |
None |
0.873 |
54 |
6
|
1999 |
2019 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2395
|
676
|
0.400 |
None |
0.923 |
50 |
6
|
2001 |
2018 |
Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
721
|
80
|
0.400 |
None |
0.878 |
44 |
4
|
1999 |
2019 |
Vascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
660
|
40
|
0.400 |
None |
0.977 |
43 |
2
|
1995 |
2016 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3687
|
603
|
0.400 |
None |
0.951 |
40 |
4
|
2001 |
2019 |