H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
Search by for Advanced Search
Home Quick guide Navi BLAST Site map Download Contact us Help

DiseaseInfo Viewer : HIX0016056

TranscriptsHIT000030086
HIT000083850
HIT000099596
HIT000254743
HIT000267264
HIT000268614
HIT000273215
HIT000279581
HIT000293045
HIT000300832
HIT000303538
HIT000320916
HIT000394954
HIT000430982
UCSC Genome browserchr21:32999440-33041244
G-integrachr21:32999440-33041244
Map position21q22.11

SymbolSOD1
OMIM147450 Protein title: SUPEROXIDE DISMUTASE 1
Disease name
  • Amyotrophic lateral sclerosis, due to SOD1 deficiency (105400)
MutationView147450
(JRE version 1.4.0 or later is required.)

Orphan diseases co-localized with HIX0016056

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 FEB7 611515 100049160 - 21q22 650 febrile convulsions 7 OMIM
2 HSCRM1 600156 404720 - 21q22 650 Hirschsprung disease modifier 1 OMIM
3 IBD25 612567 100270799 - 21q22 650 Inflammatory bowel disease-25 OMIM
4 TUKLS 609428 574049 34960 21q22 650 Tukel syndrome OMIM

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

$Revision: 1.58.2.9.2.46 $