Thin-cap fibroatheroma
|
phenotype |
Cardiovascular Diseases
|
Acquired Abnormality
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Biliary calculi
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Body Substance
|
48
|
31
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Nuchal bleb, familial
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
24
|
9
|
0.070 |
None |
1.000 |
7 |
|
1998 |
2008 |
LDLR mutation
|
disease |
|
Congenital Abnormality
|
10
|
21
|
0.040 |
None |
1.000 |
4 |
1
|
2006 |
2018 |
Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
83
|
29
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Spina Bifida Cystica
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
21
|
5
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Spina Bifida
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
179
|
61
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Sitosterolemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
Congenital Abnormality
|
11
|
20
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Hypercholesterolemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
203
|
1423
|
0.700 |
strong |
0.986 |
140 |
36
|
1979 |
2019 |
Hyperlipoproteinemia Type IIa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
201
|
661
|
0.500 |
None |
0.992 |
130 |
8
|
1988 |
2019 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.100 |
None |
0.950 |
100 |
8
|
1986 |
2019 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.500 |
None |
0.960 |
99 |
4
|
1986 |
2019 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.100 |
None |
0.989 |
87 |
1
|
1986 |
2019 |
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.100 |
None |
0.987 |
78 |
1
|
1986 |
2019 |
Coronary Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1282
|
440
|
0.200 |
None |
0.973 |
75 |
|
1986 |
2019 |
Hyperlipoproteinemia Type IIb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
16
|
0.800 |
definitive |
0.986 |
74 |
14
|
1978 |
2018 |
Hypobetalipoproteinemias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
11
|
0.200 |
None |
0.986 |
71 |
7
|
1987 |
2019 |
Familial hypercholesterolemia - homozygous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
23
|
72
|
0.200 |
None |
1.000 |
71 |
3
|
1989 |
2020 |
Hypercholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
489
|
123
|
0.900 |
strong |
0.985 |
66 |
5
|
1987 |
2019 |
Familial hypobetalipoproteinemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
12
|
24
|
0.500 |
None |
0.955 |
66 |
19
|
1987 |
2018 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.500 |
None |
1.000 |
52 |
5
|
1995 |
2020 |
Hyperlipidemia, Familial Combined
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
91
|
28
|
0.100 |
None |
0.921 |
38 |
1
|
1989 |
2020 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.100 |
None |
0.944 |
36 |
2
|
1989 |
2020 |
Abetalipoproteinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
65
|
19
|
0.200 |
None |
0.971 |
34 |
|
1985 |
2019 |