Implementation - OMIM - NCBI

Implementation - 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 "Implementation" 

*603494 - PREFOLDIN-LIKE CHAPERONE URI1; URI1

Cytogenetic locations: 19q12

OMIM:

 

603494

Gene summaries Genetic tests Medical literature

Select item 2435002.

#243500 - ISOVALERIC ACIDEMIA; IVA

Cytogenetic locations: 15q15.1

OMIM:

 

243500

Gene summaries Genetic tests Medical literature

Select item 1438803.

#143880 - HYPERCALCEMIA, INFANTILE, 1; HCINF1

Cytogenetic locations: 20q13.2

OMIM:

 

143880

Gene summaries Genetic tests Medical literature

Select item 2721204.

#272120 - SUDDEN INFANT DEATH SYNDROME

Cytogenetic locations: 3p22.2

OMIM:

 

272120

Gene summaries Genetic tests Medical literature

Select item 3113605.

#311360 - PREMATURE OVARIAN FAILURE 1; POF1

Cytogenetic locations: Xq27.3

OMIM:

 

311360

Gene summaries Genetic tests Medical literature

Select item 1733506.

*173350 - PLASMINOGEN; PLG

ANGIOSTATIN, INCLUDED

Cytogenetic locations: 6q26

OMIM:

 

173350

Gene summaries Genetic tests Medical literature

Select item 6070087.

*607008 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Cytogenetic locations: 1p31.1

OMIM:

 

607008

Gene summaries Genetic tests Medical literature

Select item 2180408.

#218040 - COSTELLO SYNDROME; CSTLO

MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED; CMEMS, INCLUDED

Cytogenetic locations: 11p15.5

OMIM:

 

218040

Gene summaries Genetic tests Medical literature

Select item 1254809.

%125480 - MAJOR AFFECTIVE DISORDER 1; MAFD1

Cytogenetic locations: 18p

OMIM:

 

125480

Gene summaries Genetic tests Medical literature

Select item 18020010.

#180200 - RETINOBLASTOMA; RB1

Cytogenetic locations: 13q14.2

OMIM:

 

180200

Gene summaries Genetic tests Medical literature

Select item 23520011.

#235200 - HEMOCHROMATOSIS, TYPE 1; HFE1

Cytogenetic locations: 1pter-p36.13, 20p12.3

OMIM:

 

235200

Gene summaries Genetic tests Medical literature

Select item 14190012.

+141900 - HEMOGLOBIN--BETA LOCUS; HBB

METHEMOGLOBINEMIA, BETA-GLOBIN TYPE, INCLUDED

Cytogenetic locations: 11p15.4

OMIM:

 

141900

Gene summaries Genetic tests Medical literature

Select item 61693413.

*616934 - MEIOSIS-SPECIFIC PROTEIN WITH COILED-COIL DOMAIN; MEIOC

Cytogenetic locations: 17q21.31

OMIM:

 

616934

Gene summaries Genetic tests Medical literature

Select item 60372014.

#603720 - DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16

Cytogenetic locations: 15q15.3

OMIM:

 

603720

Gene summaries Genetic tests Medical literature

Select item 61110215.

#611102 - DEAFNESS-INFERTILITY SYNDROME; DIS

Cytogenetic locations: 15q15.3

OMIM:

 

611102

Gene summaries Genetic tests Medical literature

Select item 60644016.

*606440 - STEREOCILIN; STRC

Cytogenetic locations: 15q15.3

OMIM:

 

606440

Gene summaries Genetic tests Medical literature

Select item 61177517.

#611775 - KAWASAKI DISEASE

Cytogenetic locations: 19q13.2

OMIM:

 

611775

Gene summaries Genetic tests Medical literature