S-adenosylhomocysteine hydrolase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
5
|
0.700 |
moderate |
1.000 |
13 |
5
|
1959 |
2018 |
Hypermethioninemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
3
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hepatolenticular Degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
146
|
349
|
0.320 |
None |
1.000 |
2 |
|
2013 |
2018 |
Nonalcoholic Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
434
|
17
|
0.310 |
None |
1.000 |
1 |
|
2018 |
2018 |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
|
0.300 |
moderate |
1.000 |
10 |
|
1959 |
2018 |
Hypoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
59
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Amino Acid Metabolism, Inherited Disorders
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hypoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
52
|
7
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hepatic methionine adenosyltransferase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
15
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hypermethioninemia due to deficiency of glycine N-methyltransferase
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
3
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Non-alcoholic Fatty Liver Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1058
|
222
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hepatic Form of Wilson Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Anoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
287
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Anoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
33
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Amino Acid Metabolism, Inborn Errors
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hyperhomocysteinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
246
|
45
|
0.220 |
None |
1.000 |
3 |
|
2002 |
2019 |
Vitamin B 6 Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
11
|
|
0.200 |
None |
1.000 |
1 |
|
2001 |
2001 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.120 |
None |
1.000 |
2 |
|
2018 |
2018 |
Hydrops Fetalis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
14
|
0.110 |
None |
1.000 |
1 |
2
|
2010 |
2010 |
Overgrowth
|
phenotype |
|
Finding
|
103
|
93
|
0.100 |
None |
1.000 |
5 |
1
|
2006 |
2016 |
Protein C antigen measurement
|
phenotype |
|
Laboratory Procedure
|
62
|
522
|
0.100 |
None |
1.000 |
1 |
29
|
2010 |
2010 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Protein C measurement
|
phenotype |
|
Laboratory Procedure
|
62
|
522
|
0.100 |
None |
1.000 |
1 |
29
|
2010 |
2010 |
Rhabdomyolysis
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
36
|
15
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |