HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
disease |
|
Disease or Syndrome
|
1
|
75
|
0.800 |
definitive |
1.000 |
16 |
75
|
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
|
1
|
|
0.700 |
definitive |
1.000 |
7 |
|
1991 |
2019 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
477
|
552
|
0.600 |
None |
1.000 |
6 |
|
2006 |
2015 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
289
|
7
|
0.600 |
None |
1.000 |
6 |
|
1997 |
2019 |
Unipolar Depression
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
259
|
88
|
0.600 |
None |
1.000 |
6 |
|
1997 |
2020 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
883
|
1629
|
0.500 |
None |
0.859 |
3 |
1
|
1997 |
2019 |
Cerebrovascular accident
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
62
|
198
|
0.500 |
None |
0.938 |
3 |
|
1997 |
2019 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
24
|
469
|
0.500 |
None |
0.912 |
1 |
1
|
1991 |
2019 |
Deep Vein Thrombosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
21
|
18
|
0.500 |
None |
0.931 |
1 |
|
1997 |
2020 |
Spina Bifida
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
12
|
3
|
0.500 |
None |
0.962 |
1 |
|
1995 |
2017 |
Neural tube defect, folate-sensitive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
4
|
2
|
0.500 |
None |
1.000 |
0 |
|
2001 |
2001 |
Meningomyelocele
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
4
|
4
|
0.470 |
None |
1.000 |
1 |
1
|
1999 |
2015 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
218
|
417
|
0.440 |
strong |
1.000 |
1 |
|
1998 |
2020 |
Anencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
4
|
|
0.440 |
None |
1.000 |
1 |
|
1996 |
2015 |
Hyperhomocysteinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
11
|
|
0.400 |
None |
0.927 |
11 |
|
1995 |
2019 |
Colorectal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
277
|
586
|
0.400 |
None |
1.000 |
8 |
|
2002 |
2014 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
702
|
856
|
0.400 |
None |
0.932 |
8 |
|
1996 |
2019 |
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
243
|
1103
|
0.400 |
None |
1.000 |
5 |
|
1997 |
2020 |
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
254
|
|
0.400 |
None |
1.000 |
5 |
|
1997 |
2019 |
Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
19
|
|
0.400 |
None |
0.878 |
4 |
|
1999 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
538
|
763
|
0.400 |
None |
0.890 |
2 |
|
2002 |
2020 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
300
|
14
|
0.400 |
None |
0.951 |
2 |
|
2001 |
2019 |
Stomach Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
297
|
47
|
0.400 |
None |
1.000 |
2 |
|
2002 |
2015 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
1074
|
1390
|
0.400 |
None |
0.890 |
2 |
|
2002 |
2020 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
36
|
342
|
0.400 |
None |
0.923 |
2 |
|
1996 |
2020 |