sábado, 24 de noviembre de 2018

Genomic medicine - OMIM - NCBI

Genomic medicine - OMIM - NCBI

Genomic Medicine

From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.



2.
METHEMOGLOBINEMIA, BETA-GLOBIN TYPE, INCLUDED
Cytogenetic locations: 11p15.4
3.
HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED
Cytogenetic locations: 12q23.2
4.
5.
CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED; sCJD, INCLUDED
Cytogenetic locations: 1pter-p36.13, 20p13
6.
THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED; NAIT, INCLUDED
Cytogenetic locations: 17q21.32
7.
8.
9.
10.
11.
CONGESTIVE HEART FAILURE AND BETA-BLOCKER RESPONSE, MODIFIER OF, INCLUDED
Cytogenetic locations: 10q25.3
13.
Cytogenetic locations: 1pter-p36.13, Xq24, 1pter-p36.13, 17q21.31, 1pter-p36.13, 12q24.12
15.
HUMORAL HYPERCALCEMIA OF MALIGNANCY, INCLUDED; HHM, INCLUDED
Cytogenetic locations: 12p11.22
16.
POU5F1/EWS FUSION GENE, INCLUDED
Cytogenetic locations: 6p21.33
17.
LEUKEMIA, CHRONIC MYELOID, ATYPICAL, INCLUDED; ACML, INCLUDED
Cytogenetic locations: 22q11.23
18.
20.
BECKWITH-WIEDEMANN SYNDROME CRITICAL REGION, INCLUDED
Cytogenetic locations: 11p15.4

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