Down syndrome - OMIM - NCBI

Down syndrome - 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 "Down syndrome" 

1.

*605298 - DOWN SYNDROME CRITICAL REGION GENE 3; DSCR3

Cytogenetic locations: 21q22.13

OMIM:

 

605298

Gene summaries Genetic tests Medical literature

Select item 6098922.

*609892 - DOWN SYNDROME CRITICAL REGION GENE 6; DSCR6

Cytogenetic locations: 21q22.13

OMIM:

 

609892

Gene summaries Genetic tests Medical literature

Select item 6048763.

*604876 - REGULATOR OF CALCINEURIN 2; RCAN2

Cytogenetic locations: 6p12.3

OMIM:

 

604876

Gene summaries Genetic tests Medical literature

Select item 6048294.

*604829 - DOWN SYNDROME CRITICAL REGION GENE 4; DSCR4

Cytogenetic locations: 21q22.13

OMIM:

 

604829

Gene summaries Genetic tests Medical literature

Select item 6052965.

*605296 - PROTEASOME ASSEMBLY CHAPERONE 1; PSMG1

Cytogenetic locations: 21q22.2

OMIM:

 

605296

Gene summaries Genetic tests Medical literature

Select item 6058606.

*605860 - RCAN FAMILY MEMBER 3; RCAN3

Cytogenetic locations: 1p36.11

OMIM:

 

605860

Gene summaries Genetic tests Medical literature

Select item 6059387.

*605938 - PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS P PROTEIN; PIGP

Cytogenetic locations: 21q22.13

OMIM:

 

605938

Gene summaries Genetic tests Medical literature

Select item 6010888.

#601088 - AYME-GRIPP SYNDROME; AYGRP

Cytogenetic locations: 16q23.2

OMIM:

 

601088

Gene summaries Genetic tests Medical literature

Select item 1906859.

#190685 - DOWN SYNDROME

DOWN SYNDROME CHROMOSOME REGION, INCLUDED; DCR, INCLUDED

Cytogenetic locations: 1pter-p36.13, 21q22.3

OMIM:

 

190685

Gene summaries Genetic tests Medical literature

Select item 60225910.

*602259 - TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 3; TTC3

Cytogenetic locations: 21q22.13

OMIM:

 

602259

Gene summaries Genetic tests Medical literature

Select item 60566811.

*605668 - BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 2; BACE2

Cytogenetic locations: 21q22.2-q22.3

OMIM:

 

605668

Gene summaries Genetic tests Medical literature

Select item 61339612.

*613396 - DOWN SYNDROME CRITICAL REGION GENE 8; DSCR8

Cytogenetic locations: 21q22.13

OMIM:

 

613396

Gene summaries Genetic tests Medical literature

Select item 61178213.

*611782 - DOWN SYNDROME CELL ADHESION MOLECULE-LIKE 1; DSCAML1

Cytogenetic locations: 11q23.3

OMIM:

 

611782

Gene summaries Genetic tests Medical literature

Select item 60252314.

*602523 - DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM

Cytogenetic locations: 21q22.2

OMIM:

 

602523

Gene summaries Genetic tests Medical literature

Select item 60291715.

*602917 - REGULATOR OF CALCINEURIN 1; RCAN1

Cytogenetic locations: 21q22.12

OMIM:

 

602917

Gene summaries Genetic tests Medical literature

Select item 15959516.

%159595 - MYELOPROLIFERATIVE SYNDROME, TRANSIENT

Cytogenetic locations: 21q11.2

OMIM:

 

159595

Gene summaries Genetic tests Medical literature

Select item 31145017.

311450 - PALLISTER W SYNDROME

OMIM:

 

311450

Gene summaries Genetic tests Medical literature

Select item 61417518.

#614175 - MECKEL SYNDROME, TYPE 10; MKS10

JOUBERT SYNDROME 34, INCLUDED; JBTS34, INCLUDED

Cytogenetic locations: 19q13.2

OMIM:

 

614175

Gene summaries Genetic tests Medical literature

Select item 10005019.

100050 - AARSKOG SYNDROME, AUTOSOMAL DOMINANT

OMIM:

 

100050

Gene summaries Genetic tests Medical literature

Select item 14175020.

#141750 - ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED

Cytogenetic locations: 16pter-p13.3

OMIM:

 

141750

Gene summaries Genetic tests Medical literature