domingo, 20 de mayo de 2018

Cascade screening - OMIM - NCBI

Cascade screening - OMIM - NCBI

a predigree with hearts on a US map

From NIH OMIM

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



3.
COLLAGEN-LIKE ALZHEIMER AMYLOID PLAQUE COMPONENT, INCLUDED; CLAC, INCLUDED
Cytogenetic locations: 4q25
4.
RET/ELKS FUSION GENE, INCLUDED
Cytogenetic locations: 10q11.21
8.
APOB100, INCLUDED
Cytogenetic locations: 2p24.1
9.
TRYPSIN 1, INCLUDED
Cytogenetic locations: 7q34
10.
11.
12.
13.
THROMBOPHILIA DUE TO FACTOR V LEIDEN, INCLUDED
Cytogenetic locations: 1q24.2
16.
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2, INCLUDED; LDLCQ2, INCLUDED
Cytogenetic locations: 7p14.3, 1pter-p36.13, 5p13-p12, 1pter-p36.13, 3p21.1, 1pter-p36.13, 19p13.2
17.
TCF12/NR4A3 FUSION GENE, INCLUDED
Cytogenetic locations: 15q21.3
18.
20.

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