LDLR mutation
|
disease |
|
Congenital Abnormality
|
10
|
21
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
19
|
9
|
1.000 |
strong |
1.000 |
31 |
7
|
2001 |
2020 |
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 |
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 |
Hypercholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
489
|
123
|
0.490 |
strong |
1.000 |
10 |
1
|
2002 |
2013 |
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 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.150 |
None |
1.000 |
5 |
|
2007 |
2019 |
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2011 |
Myocardial Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1800
|
680
|
0.120 |
None |
1.000 |
2 |
1
|
2014 |
2019 |
Lipid Metabolism Disorders
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
95
|
10
|
0.020 |
None |
1.000 |
2 |
|
2009 |
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 |
Premature coronary artery atherosclerosis
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
87
|
43
|
0.120 |
None |
1.000 |
2 |
|
2003 |
2005 |
Cholera
|
disease |
Infections
|
Disease or Syndrome
|
209
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
284
|
46
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Dyslipidemias
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
471
|
184
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Xanthoma
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
29
|
4
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Plasma cell dyscrasia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
36
|
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
PREMATURE CENTROMERE DIVISION
|
disease |
|
Disease or Syndrome
|
66
|
2
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Arteriosclerotic cardiovascular disease, NOS
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
58
|
5
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Primary Ciliary Dyskinesia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
160
|
10
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Supravalvular aortic stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
38
|
0.100 |
None |
|
0 |
|
|
|
Coronary Aneurysm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
75
|
17
|
0.100 |
None |
|
0 |
|
|
|
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.100 |
None |
|
0 |
|
|
|