Liquid biopsy - OMIM - NCBI

Liquid biopsy - OMIM - NCBI

 

Caption: DNA (blue) loops around nucleosomes (gray) and is bound by transcription factors (red), proteins that switch genes on and off and act in a tissue-specific manner. When cells die, enzymes (scissors) chop up areas between the nucleosomes and transcription factors, releasing DNA fragments in unique patterns. By gathering the released DNA fragments in blood, researchers can tell which types of cells produced them.
Credit: Shendure Lab/University of Washington

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 "Liquid biopsy" 

#301500 - FABRY DISEASE

FABRY DISEASE, CARDIAC VARIANT, INCLUDED

Cytogenetic locations: Xq22.1

OMIM:

 

301500

Gene summaries Genetic tests Medical literature

Select item 2560302.

#256030 - NEMALINE MYOPATHY 2; NEM2

Cytogenetic locations: 2q23.3

OMIM:

 

256030

Gene summaries Genetic tests Medical literature

Select item 6076063.

*607606 - KERATIN 9, TYPE I; KRT9

Cytogenetic locations: 17q21.2

OMIM:

 

607606

Gene summaries Genetic tests Medical literature

Select item 3003774.

*300377 - DYSTROPHIN; DMD

APO-DYSTROPHIN 1, INCLUDED

Cytogenetic locations: Xp21.2-p21.1

OMIM:

 

300377

Gene summaries Genetic tests Medical literature

Select item 1786205.

*178620 - SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC

Cytogenetic locations: 8p21.3

OMIM:

 

178620

Gene summaries Genetic tests Medical literature

Select item 2197006.

#219700 - CYSTIC FIBROSIS; CF

Cytogenetic locations: 19q13.2, 1pter-p36.13, 1q23.3

OMIM:

 

219700

Gene summaries Genetic tests Medical literature

Select item 3020607.

#302060 - BARTH SYNDROME; BTHS

Cytogenetic locations: Xq28

OMIM:

 

302060

Gene summaries Genetic tests Medical literature

Select item 6074268.

#607426 - COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Cytogenetic locations: 4q21.22-q21.23

OMIM:

 

607426

Gene summaries Genetic tests Medical literature

Select item 4000059.

*400005 - UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y

Cytogenetic locations: Yq11.221

OMIM:

 

400005

Gene summaries Genetic tests Medical literature

Select item 60474110.

*604741 - ALDO-KETO REDUCTASE FAMILY 1, MEMBER D1; AKR1D1

Cytogenetic locations: 7q33

OMIM:

 

604741

Gene summaries Genetic tests Medical literature

Select item 61527611.

*615276 - CERAMIDE SYNTHASE 3; CERS3

Cytogenetic locations: 15q26.3

OMIM:

 

615276

Gene summaries Genetic tests Medical literature

Select item 21470012.

#214700 - DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1

Cytogenetic locations: 7q22.3-q31.1

OMIM:

 

214700

Gene summaries Genetic tests Medical literature

Select item 10072013.

*100720 - CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; CHRND

Cytogenetic locations: 2q37.1

OMIM:

 

100720

Gene summaries Genetic tests Medical literature

Select item 13803014.

*138030 - GLUCAGON; GCG

GLUCAGON-LIKE PEPTIDE 1, INCLUDED; GLP1, INCLUDED

Cytogenetic locations: 2q24.2

OMIM:

 

138030

Gene summaries Genetic tests Medical literature

Select item 20147015.

#201470 - ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD

Cytogenetic locations: 12q24.31

OMIM:

 

201470

Gene summaries Genetic tests Medical literature

Select item 22660016.

#226600 - EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED

Cytogenetic locations: 1pter-p36.13, 3p21.31

OMIM:

 

226600

Gene summaries Genetic tests Medical literature

Select item 10072517.

*100725 - CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE

Cytogenetic locations: 17p13.2

OMIM:

 

100725

Gene summaries Genetic tests Medical literature

Select item 19131518.

*191315 - NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

TRK ONCOGENE, INCLUDED

Cytogenetic locations: 1q23.1

OMIM:

 

191315

Gene summaries Genetic tests Medical literature

Select item 17183419.

*171834 - PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA

Cytogenetic locations: 3q26.32

OMIM:

 

171834

Gene summaries Genetic tests Medical literature

Select item 60016320.

*600163 - SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A

Cytogenetic locations: 3p22.2

OMIM:

 

600163

Gene summaries Genetic tests Medical literature