Ataxia-Telangiectasia Variant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
5
|
0.100 |
None |
|
0 |
4
|
|
|
ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
|
disease |
|
Finding
|
2
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
response to metformin
|
phenotype |
|
Cell Function
|
3
|
14
|
0.100 |
None |
1.000 |
2 |
7
|
2011 |
2011 |
Osteoma
|
disease |
Neoplasms
|
Neoplastic Process
|
6
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
BREAST CANCER, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
11
|
24
|
0.100 |
None |
|
0 |
3
|
|
|
Elevated alpha-fetoprotein
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
bilateral breast cancer
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
31
|
17
|
0.100 |
None |
|
0 |
2
|
|
|
Malignant melanoma of skin of upper limb
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
32
|
42
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Malignant melanoma of skin of lower limb
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
32
|
42
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Plexiform leiomyoma
|
disease |
|
Neoplastic Process
|
41
|
103
|
0.100 |
None |
1.000 |
2 |
1
|
2018 |
2019 |
T-Cell Prolymphocytic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
52
|
4
|
0.100 |
None |
|
0 |
2
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
Neoplastic Process
|
74
|
2117
|
0.100 |
None |
1.000 |
1 |
4
|
2016 |
2016 |
Decreased antibody level in blood
|
phenotype |
|
Finding
|
75
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Lipoma
|
disease |
Neoplasms
|
Neoplastic Process
|
87
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Neoplastic Syndromes, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
88
|
6387
|
0.100 |
None |
1.000 |
159 |
220
|
1996 |
2018 |
Nonmedullary Thyroid Carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
89
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Granulocyte count
|
phenotype |
|
Laboratory Procedure
|
100
|
150
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Islet Cell Tumor
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
108
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.100 |
None |
|
0 |
1
|
|
|
Neutrophil count (procedure)
|
phenotype |
|
Laboratory Procedure
|
145
|
234
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Adrenal Cortical Adenoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
156
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Paraganglioma
|
disease |
Neoplasms
|
Neoplastic Process
|
165
|
36
|
0.100 |
None |
|
0 |
1
|
|
|
Platelet Count measurement
|
phenotype |
|
Laboratory Procedure
|
265
|
457
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Mean Corpuscular Volume (result)
|
phenotype |
|
Laboratory or Test Result
|
269
|
549
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Blood basophil count (lab test)
|
phenotype |
|
Laboratory Procedure
|
272
|
452
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |