H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0026392

TranscriptsHIT000052315
HIT000055976
HIT000194109
HIT000195676
HIT000255654
HIT000258991
HIT000300808
HIT000302090
HIT000306372
HIT000329549
HIT000426698
HIT000431348
UCSC Genome browserchr12:9220304-9268825
G-integrachr12:9220304-9268825
Map position12p13.31

SymbolA2M
OMIM103950 Protein title: ALPHA-2-MACROGLOBULIN
Disease name
  • Emphysema due to alpha-2-macroglobulin deficiency
  • {Alzheimer disease, susceptibility to} (104300)
MutationView103950
(JRE version 1.4.0 or later is required.)

Orphan diseases co-localized with HIX0026392

The number of co-localized H-Inv loci was computed by converting each cytogenetic band into a physical range on the chromosome, with additional 1000000 bp added on each side.

  Symbol OMIM phenotype Entrez Gene GenAtlas Cytogenetic band
(Link to the latest human genome on UCSC Genome Browser)
Number-of co-localized H-Inv loci (Click for list) Description Source
1 MAFD9 612372 100196917 - 12p133 488 Major affective disorder-9, susceptibility to OMIM
2 EDS8 130080 791254 34480 12p13 585 Ehlers-Danlos syndrome, type VIII OMIM
3 SAX1 108600 114610 34111 12p13 585 spastic ataxia 1 (autosomal dominant) OMIM
4 DFNB32 - 113877 34142 12p13-p11 744 neurosensory desfness 32 GenAtlas
5 KAR 107920 8083 - 12p 744 Aromatic alpha-keto acid reductase OMIM
6 TELM 609113 550641 35207 12 2213 telomere length, mean leukocyte OMIM
7 TELM 609113 550641 35208 12 2213 telomere length, mean leukocyte OMIM

This database and viewer were originally developed by Dr. Boris Lenhard at Karolinska Institute.

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