sábado, 3 de noviembre de 2018

Familial hypercholesterolemia - OMIM - NCBI

Familial hypercholesterolemia - OMIM - NCBI



From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.





2.
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2, INCLUDED; LDLCQ2, INCLUDED
Cytogenetic locations: 7p14.3, 1pter-p36.13, 5p13-p12, 1pter-p36.13, 3p21.1, 1pter-p36.13, 19p13.2
3.
CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST, INCLUDED
Cytogenetic locations: 9q31.1
4.
CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO, INCLUDED
Cytogenetic locations: 19q13.32
6.
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED; LDLCQ1, INCLUDED
Cytogenetic locations: 1p32.3
8.
9.
Cytogenetic locations: 9q21.11, 1pter-p36.13, 1q42.12
10.
14.
BREAST CANCER, FAMILIAL MALE, INCLUDED
Cytogenetic locations: 2q33.1, 1pter-p36.13, 22q12.1, 1pter-p36.13, 17q23.2, 1pter-p36.13, 17q23.2, 1pter-p36.13, 17q21.33, 1pter-p36.13, 17p13.1, 1pter-p36.13, 16q22.1, 1pter-p36.13, 16p12.2, 1pter-p36.13, 15q15.1, 1pter-p36.13, 14q32.33,2q33.1, 1pter-p36.13, 22q12.1, 1pter-p36.13, 17q23.2, 1pter-p36.13, 17q23.2, 1pter-p36.13, 17q21.33, 1pter-p36.13, 17p13.1, 1pter-p36.13, 16q22.1, 1pter-p36.13, 16p12.2, 1pter-p36.13, 15q15.1, 1pter-p36.13, 14q32.3
16.
APOLIPOPROTEIN A-II DEFICIENCY, INCLUDED
Cytogenetic locations: 1q23.3
18.
19.

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