Abnormal enzyme/coenzyme activity
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adult Diffuse Large B-Cell Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
504
|
46
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Adult Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2528
|
98
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Adult Liver Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1377
|
72
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2013 |
Anemia, Hemolytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
154
|
31
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
CUI: |
C0003578 |
Disease: |
Apnea
|
Apnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
262
|
11
|
0.100 |
None |
|
0 |
|
|
|
Apneic episodes in infancy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
6
|
2
|
0.100 |
None |
|
0 |
|
|
|
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
B-Cell Lymphomas
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1408
|
42
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Basal-Like Breast Carcinoma
|
disease |
|
Neoplastic Process
|
245
|
9
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2017 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.050 |
None |
1.000 |
5 |
|
2016 |
2019 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.100 |
None |
0.800 |
10 |
|
2010 |
2019 |
Carcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2462
|
103
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.030 |
None |
0.667 |
3 |
|
2015 |
2018 |
Carcinoma, Ovarian Epithelial
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2841
|
327
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
cervical cancer
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1817
|
268
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cervix carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1881
|
283
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Childhood Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2527
|
98
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Childhood Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2208
|
151
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Cholangiocarcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
877
|
43
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Cicatrix, Hypertrophic
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
185
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Colon Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2832
|
275
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |