Personal stories or story - OMIM - NCBI

Personal stories or story - 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 "Personal stories or story" 

#601144 - BRUGADA SYNDROME 1; BRGDA1

CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED

Cytogenetic locations: 3p22.2

OMIM:

 

601144

Gene summaries Genetic tests Medical literature

Select item 6103822.

%610382 - PROSOPAGNOSIA, HEREDITARY

OMIM:

 

610382

Gene summaries Genetic tests Medical literature

Select item 6039033.

#603903 - SICKLE CELL ANEMIA

Cytogenetic locations: 11p15.4

OMIM:

 

603903

Gene summaries Genetic tests Medical literature

Select item 1514504.

*151450 - LEUKOCYTE ANTIGEN GROUP FIVE; LAG5

Cytogenetic locations: Chr.4

OMIM:

 

151450

Gene summaries Genetic tests Medical literature

Select item 1914805.

#191480 - UNCOMBABLE HAIR SYNDROME 1; UHS1

Cytogenetic locations: 1p36.13

OMIM:

 

191480

Gene summaries Genetic tests Medical literature

Select item 6023936.

*602393 - HYPOCRETIN RECEPTOR 2; HCRTR2

Cytogenetic locations: 6p12.1

OMIM:

 

602393

Gene summaries Genetic tests Medical literature

Select item 6020797.

#602079 - TRIMETHYLAMINURIA; TMAU

Cytogenetic locations: 1q24.3

OMIM:

 

602079

Gene summaries Genetic tests Medical literature

Select item 6021178.

*602117 - NECDIN; NDN

Cytogenetic locations: 15q11.2

OMIM:

 

602117

Gene summaries Genetic tests Medical literature

Select item 6033819.

*603381 - FILAMIN B; FLNB

TRUNCATED ACTIN-BINDING PROTEIN, INCLUDED; TABP, INCLUDED

Cytogenetic locations: 3p14.3

OMIM:

 

603381

Gene summaries Genetic tests Medical literature

Select item 60004410.

*600044 - THROMBOPOIETIN; THPO

Cytogenetic locations: 3q27.1

OMIM:

 

600044

Gene summaries Genetic tests Medical literature

Select item 14794011.

*147940 - ISLET AMYLOID POLYPEPTIDE; IAPP

Cytogenetic locations: 12p12.1

OMIM:

 

147940

Gene summaries Genetic tests Medical literature

Select item 25100012.

#251000 - METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY

METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED

Cytogenetic locations: 6p12.3

OMIM:

 

251000

Gene summaries Genetic tests Medical literature

Select item 18998013.

*189980 - ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1

ABL1/BCR FUSION GENE, INCLUDED

Cytogenetic locations: 9q34.12

OMIM:

 

189980

Gene summaries Genetic tests Medical literature

Select item 13758014.

#137580 - GILLES DE LA TOURETTE SYNDROME; GTS

CHRONIC MOTOR TICS, INCLUDED

Cytogenetic locations: 15q21.2, 1pter-p36.13, 13q31.1

OMIM:

 

137580

Gene summaries Genetic tests Medical literature

Select item 19243015.

#192430 - VELOCARDIOFACIAL SYNDROME

Cytogenetic locations: 22q11.21

OMIM:

 

192430

Gene summaries Genetic tests Medical literature

Select item 60710216.

*607102 - WT1 GENE; WT1

WT1/EWS FUSION GENE, INCLUDED

Cytogenetic locations: 11p13

OMIM:

 

607102

Gene summaries Genetic tests Medical literature

Select item 60016017.

*600160 - CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

p14(ARF), INCLUDED

Cytogenetic locations: 9p21.3

OMIM:

 

600160

Gene summaries Genetic tests Medical literature

Select item 11448018.

#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 30570019.

305700 - SPERMATOGENIC FAILURE, X-LINKED, 1; SPGFX1

OMIM:

 

305700

Gene summaries Genetic tests Medical literature

Select item 15999120.

*159991 - MYOGENIC FACTOR 6; MYF6

Cytogenetic locations: 12q21.31

OMIM:

 

159991

Gene summaries Genetic tests Medical literature