6-pyruvoyl-tetrahydropterin synthase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
38
|
0.900 |
definitive |
1.000 |
41 |
37
|
1987 |
2017 |
Hyperphenylalaninaemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
38
|
0.160 |
None |
1.000 |
6 |
6
|
1992 |
2019 |
Hyperphenylalaninemia, Non-Phenylketonuric
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
2
|
0.050 |
None |
1.000 |
5 |
2
|
1996 |
2015 |
Deep Vein Thrombosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
230
|
93
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Classical phenylketonuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
42
|
385
|
0.020 |
None |
1.000 |
2 |
|
1992 |
2002 |
Amnesia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
173
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Primary Hyperoxaluria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
16
|
11
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Post-Traumatic Stress Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
418
|
117
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
TOXOPLASMOSIS, CHRONIC
|
disease |
Infections
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Transient hyperphenylalaninemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
1997 |
1997 |
Phenylketonuria II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
16
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
10
|
9
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Familial Alzheimer Disease (FAD)
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
260
|
95
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Brucella melitensis infection
|
disease |
Infections
|
Disease or Syndrome
|
17
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mixed anxiety and depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
146
|
13
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Aromatic amino acid decarboxylase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Familial Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Deficiency of aromatic-L-amino-acid decarboxylase
|
disease |
|
Disease or Syndrome
|
7
|
16
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
164
|
139
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
ALZHEIMER DISEASE, FAMILIAL, 1
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |