HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
9
|
1.000 |
strong |
1.000 |
31 |
7
|
2001 |
2020 |
Familial hypercholesterolemia - homozygous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
23
|
72
|
0.550 |
None |
1.000 |
8 |
|
2001 |
2019 |
Hypercholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
489
|
123
|
0.490 |
strong |
1.000 |
10 |
1
|
2002 |
2013 |
Hypercholesterolemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
203
|
1423
|
0.400 |
strong |
1.000 |
13 |
1
|
2002 |
2019 |
Hyperlipidemia, group A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
1
|
0.200 |
None |
1.000 |
2 |
|
2003 |
2004 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.150 |
None |
1.000 |
5 |
|
2007 |
2019 |
Myocardial Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1800
|
680
|
0.120 |
None |
1.000 |
2 |
1
|
2014 |
2019 |
Premature coronary artery atherosclerosis
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
87
|
43
|
0.120 |
None |
1.000 |
2 |
|
2003 |
2005 |
Hyperlipoproteinemia Type IIa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
201
|
661
|
0.100 |
None |
1.000 |
12 |
1
|
2002 |
2019 |
Platelet Count measurement
|
phenotype |
|
Laboratory Procedure
|
265
|
457
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Platelet mean volume determination (procedure)
|
phenotype |
|
Laboratory Procedure
|
223
|
371
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.100 |
None |
|
0 |
|
|
|
Xanthoma tendinosum
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
15
|
22
|
0.100 |
None |
|
0 |
|
|
|
Myocardial steatosis
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral artery atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Dysfunction, Left
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
88
|
|
0.100 |
None |
|
0 |
|
|
|
Renal Artery Stenosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
37
|
8
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eye physiology
|
phenotype |
|
Pathologic Function
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of nervous system physiology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Pathologic Function
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Low density lipoprotein increased
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
23
|
318
|
0.100 |
None |
|
0 |
|
|
|
Renal steatosis
|
disease |
|
Disease or Syndrome
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Calcification of the aorta
|
phenotype |
|
Pathologic Function
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Premature arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Increased VLDL cholesterol concentration
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Precocious atherosclerosis
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
9
|
|
0.100 |
None |
|
0 |
|
|
|