Decreased activity of the pyruvate dehydrogenase complex
|
phenotype |
|
Finding
|
35
|
3
|
0.100 |
None |
|
0 |
|
|
|
Increased serum pyruvate
|
phenotype |
|
Finding
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Poor fine motor coordination
|
phenotype |
|
Finding
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2004 |
2004 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
None |
1.000 |
1 |
|
2011 |
2011 |
Pancreatic carcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2689
|
322
|
0.100 |
None |
0.917 |
12 |
|
2004 |
2018 |
Malignant neoplasm of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2667
|
277
|
0.100 |
None |
0.917 |
12 |
|
2004 |
2018 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.050 |
None |
0.800 |
5 |
|
2008 |
2017 |
Pancreatic Ductal Adenocarcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
970
|
22
|
0.050 |
None |
1.000 |
5 |
|
2004 |
2019 |
Pancreatic intraepithelial neoplasia
|
disease |
Neoplasms
|
Neoplastic Process
|
186
|
11
|
0.040 |
None |
0.750 |
4 |
|
2015 |
2018 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.030 |
None |
1.000 |
3 |
|
2006 |
2018 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.030 |
None |
0.667 |
3 |
|
2005 |
2015 |
insulinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
258
|
8
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2011 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.030 |
None |
1.000 |
3 |
|
2011 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.030 |
None |
1.000 |
3 |
|
2006 |
2018 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.030 |
None |
0.667 |
3 |
|
2005 |
2015 |
Adenocarcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2235
|
168
|
0.020 |
None |
0.500 |
2 |
|
2008 |
2018 |
Pancreatic Neoplasm
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
764
|
20
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2017 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |