Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Polyuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Sign or Symptom
|
73
|
3
|
0.100 |
None |
|
0 |
|
|
|
Polydipsia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
61
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hyperphagia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
60
|
3
|
0.100 |
None |
|
0 |
|
|
|
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2019 |
Primary malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3894
|
981
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2019 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2019 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Glycosuria, Renal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
11
|
17
|
0.800 |
strong |
1.000 |
14 |
14
|
2002 |
2020 |
Familial renal glucosuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
3
|
2
|
0.400 |
None |
0.952 |
21 |
2
|
2004 |
2019 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.300 |
None |
0.944 |
18 |
|
2004 |
2020 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
0.977 |
488 |
3
|
2005 |
2020 |
Aminoaciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.010 |
None |
< 0.001 |
1 |
|
2005 |
2005 |
Hyperglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1098
|
108
|
0.100 |
None |
1.000 |
48 |
|
2009 |
2020 |
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.100 |
None |
0.975 |
40 |
|
2010 |
2020 |
Congenital glucose-galactose malabsorption
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
19
|
12
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2018 |
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2019 |
Fanconi-Bickel Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
15
|
17
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Lipoid nephrosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
3
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.100 |
None |
0.978 |
134 |
|
2012 |
2020 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.100 |
None |
0.971 |
104 |
|
2013 |
2020 |
Diabetic Nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1189
|
238
|
0.100 |
None |
0.955 |
44 |
|
2013 |
2020 |
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.100 |
None |
0.971 |
34 |
|
2013 |
2019 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Non-alcoholic Fatty Liver Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1058
|
222
|
0.100 |
None |
1.000 |
10 |
|
2016 |
2020 |