H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0077693

TranscriptsHIT000383124
UCSC Genome browserchr2:232321155-232321234
G-integrachr2:232321155-232321234
Map position2q37.1

SymbolRNU20
OMIMNA
Disease nameNA
MutationView-

Orphan diseases co-localized with HIX0077693

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 HPE6 605934 117190 35176 2q371 149 holoprosencephaly 6 OMIM
2 MYP12 609995 664780 - 2q371 149 myopia 12 (high grade, autosomal dominant) OMIM
3 BDMR 600430 626 12271 2q37 347 brachydactyly-mental retardation syndrome OMIM
4 BDMR 600430 626 31482 2q37 347 brachydactyly-mental retardation syndrome OMIM
5 BDMR 600430 626 34564 2q37 347 brachydactyly-mental retardation syndrome OMIM
6 AUTS5 606053 94313 34014 2q 2627 Autism, susceptibility to, 5 OMIM
7 COPD 606963 260431 - 2q 2627 Pulmonary disease, chronic obstructive, severe early-onset OMIM

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

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