Genomic medicine - OMIM - NCBI

Genomic medicine - 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 "Genomic medicine" 

*308000 - HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1

Cytogenetic locations: Xq26.2-q26.3

OMIM:

 

308000

Gene summaries Genetic tests Medical literature

Select item 1419002.

+141900 - HEMOGLOBIN--BETA LOCUS; HBB

METHEMOGLOBINEMIA, BETA-GLOBIN TYPE, INCLUDED

Cytogenetic locations: 11p15.4

OMIM:

 

141900

Gene summaries Genetic tests Medical literature

Select item 2616003.

#261600 - PHENYLKETONURIA; PKU

HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED

Cytogenetic locations: 12q23.2

OMIM:

 

261600

Gene summaries Genetic tests Medical literature

Select item 3102004.

#310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

Cytogenetic locations: Xp21.2-p21.1

OMIM:

 

310200

Gene summaries Genetic tests Medical literature

Select item 1234005.

#123400 - CREUTZFELDT-JAKOB DISEASE; CJD

CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED; sCJD, INCLUDED

Cytogenetic locations: 1pter-p36.13, 20p13

OMIM:

 

123400

Gene summaries Genetic tests Medical literature

Select item 1734706.

+173470 - INTEGRIN, BETA-3; ITGB3

THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED; NAIT, INCLUDED

Cytogenetic locations: 17q21.32

OMIM:

 

173470

Gene summaries Genetic tests Medical literature

Select item 6066727.

*606672 - GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA

GLYCOCALICIN, INCLUDED

Cytogenetic locations: 17p13.2

OMIM:

 

606672

Gene summaries Genetic tests Medical literature

Select item 6136098.

*613609 - HFE GENE; HFE

Cytogenetic locations: 6p22.2

OMIM:

 

613609

Gene summaries Genetic tests Medical literature

Select item 6013739.

*601373 - CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5

Cytogenetic locations: 3p21.31

OMIM:

 

601373

Gene summaries Genetic tests Medical literature

Select item 17520010.

#175200 - PEUTZ-JEGHERS SYNDROME; PJS

Cytogenetic locations: 19p13.3

OMIM:

 

175200

Gene summaries Genetic tests Medical literature

Select item 10963011.

+109630 - BETA-1-ADRENERGIC RECEPTOR; ADRB1

CONGESTIVE HEART FAILURE AND BETA-BLOCKER RESPONSE, MODIFIER OF, INCLUDED

Cytogenetic locations: 10q25.3

OMIM:

 

109630

Gene summaries Genetic tests Medical literature

Select item 15560012.

%155600 - MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1

Cytogenetic locations: 1p36

OMIM:

 

155600

Gene summaries Genetic tests Medical literature

Select item 16860013.

#168600 - PARKINSON DISEASE, LATE-ONSET; PD

Cytogenetic locations: 1pter-p36.13, Xq24, 1pter-p36.13, 17q21.31, 1pter-p36.13, 12q24.12

OMIM:

 

168600

Gene summaries Genetic tests Medical literature

Select item 61388314.

*613883 - KELL BLOOD GROUP METALLOENDOPEPTIDASE; KEL

Cytogenetic locations: 7q34

OMIM:

 

613883

Gene summaries Genetic tests Medical literature

Select item 16847015.

+168470 - PARATHYROID HORMONE-LIKE HORMONE; PTHLH

HUMORAL HYPERCALCEMIA OF MALIGNANCY, INCLUDED; HHM, INCLUDED

Cytogenetic locations: 12p11.22

OMIM:

 

168470

Gene summaries Genetic tests Medical literature

Select item 16417716.

*164177 - POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1

POU5F1/EWS FUSION GENE, INCLUDED

Cytogenetic locations: 6p21.33

OMIM:

 

164177

Gene summaries Genetic tests Medical literature

Select item 60823217.

#608232 - LEUKEMIA, CHRONIC MYELOID; CML

LEUKEMIA, CHRONIC MYELOID, ATYPICAL, INCLUDED; ACML, INCLUDED

Cytogenetic locations: 22q11.23

OMIM:

 

608232

Gene summaries Genetic tests Medical literature

Select item 18442918.

*184429 - SRY-BOX 2; SOX2

Cytogenetic locations: 3q26.33

OMIM:

 

184429

Gene summaries Genetic tests Medical literature

Select item 19008019.

*190080 - V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC

Cytogenetic locations: 8q24.21

OMIM:

 

190080

Gene summaries Genetic tests Medical literature

Select item 60263120.

*602631 - SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 18; SLC22A18

BECKWITH-WIEDEMANN SYNDROME CRITICAL REGION, INCLUDED

Cytogenetic locations: 11p15.4

OMIM:

 

602631

Gene summaries Genetic tests Medical literature