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.

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• Search OMIM for "Familial hypercholesterolemia" 

1.

#144010 - HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

Cytogenetic locations: 2p24.1

OMIM:

 

144010

Gene summaries Genetic tests Medical literature

Select item 1438902.

#143890 - HYPERCHOLESTEROLEMIA, FAMILIAL

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

OMIM:

 

143890

Gene summaries Genetic tests Medical literature

Select item 6000463.

+600046 - ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1

CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST, INCLUDED

Cytogenetic locations: 9q31.1

OMIM:

 

600046

Gene summaries Genetic tests Medical literature

Select item 6173474.

#617347 - HYPERLIPOPROTEINEMIA, TYPE III

CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO, INCLUDED

Cytogenetic locations: 19q13.32

OMIM:

 

617347

Gene summaries Genetic tests Medical literature

Select item 1440205.

144020 - HYPERCHOLESTEROLEMIA SUPPRESSOR

OMIM:

 

144020

Gene summaries Genetic tests Medical literature

Select item 6037766.

#603776 - HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3

LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED; LDLCQ1, INCLUDED

Cytogenetic locations: 1p32.3

OMIM:

 

603776

Gene summaries Genetic tests Medical literature

Select item 6038137.

#603813 - HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH

Cytogenetic locations: 1p36.11

OMIM:

 

603813

Gene summaries Genetic tests Medical literature

Select item 2386008.

#238600 - HYPERLIPOPROTEINEMIA, TYPE I

Cytogenetic locations: 8p21.3

OMIM:

 

238600

Gene summaries Genetic tests Medical literature

Select item 6077489.

#607748 - HYPERCHOLANEMIA, FAMILIAL; FHCA

Cytogenetic locations: 9q21.11, 1pter-p36.13, 1q42.12

OMIM:

 

607748

Gene summaries Genetic tests Medical literature

Select item 60249110.

#602491 - HYPERLIPIDEMIA, COMBINED, 1

Cytogenetic locations: 1q23.3

OMIM:

 

602491

Gene summaries Genetic tests Medical literature

Select item 61599911.

#615999 - HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH

Cytogenetic locations: 4q13.3

OMIM:

 

615999

Gene summaries Genetic tests Medical literature

Select item 14425012.

#144250 - HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL

Cytogenetic locations: 8p21.3

OMIM:

 

144250

Gene summaries Genetic tests Medical literature

Select item 27746013.

#277460 - VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED

Cytogenetic locations: 8q12.3

OMIM:

 

277460

Gene summaries Genetic tests Medical literature

Select item 11448014.

#114480 - BREAST CANCER

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

OMIM:

 

114480

Gene summaries Genetic tests Medical literature

Select item 60224715.

%602247 - XANTHOMATOSIS, SUSCEPTIBILITY TO

OMIM:

 

602247

Gene summaries Genetic tests Medical literature

Select item 10767016.

+107670 - APOLIPOPROTEIN A-II; APOA2

APOLIPOPROTEIN A-II DEFICIENCY, INCLUDED

Cytogenetic locations: 1q23.3

OMIM:

 

107670

Gene summaries Genetic tests Medical literature

Select item 60574717.

*605747 - LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1

Cytogenetic locations: 1p36.11

OMIM:

 

605747

Gene summaries Genetic tests Medical literature

Select item 13281118.

*132811 - EPOXIDE HYDROLASE 2, CYTOSOLIC; EPHX2

Cytogenetic locations: 8p21.2-p21.1

OMIM:

 

132811

Gene summaries Genetic tests Medical literature

Select item 60694519.

*606945 - LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

Cytogenetic locations: 19p13.2

OMIM:

 

606945

Gene summaries Genetic tests Medical literature

Select item 60778620.

*607786 - PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9

Cytogenetic locations: 1p32.3

OMIM:

 

607786

Gene summaries Genetic tests Medical literature