Liquid biopsy - OMIM - NCBI

Liquid biopsy - 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 "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: 7q31.2, 1pter-p36.13, 19q13.2

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 60016319.

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

Cytogenetic locations: 3p22.2

OMIM:

 

600163

Gene summaries Genetic tests Medical literature

Select item 60035420.

*600354 - SURVIVAL OF MOTOR NEURON 1; SMN1

Cytogenetic locations: 5q13.2

OMIM:

 

600354

Gene summaries Genetic tests Medical literature