H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0006647

TranscriptsHIT000033143
HIT000068300
HIT000082053
HIT000099998
HIT000222787
HIT000267839
HIT000268877
HIT000331268
HIT000431488
HIT000487530
HIT000487660
HIT000493782
UCSC Genome browserchr7:44240567-44253893
G-integrachr7:44240567-44253893
Map position7p13

SymbolYKT6
OMIMNA
Disease nameNA
MutationView-

Orphan diseases co-localized with HIX0006647

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 DUP7P - - 32415 7p13-p121 219 duplication of 7p13-p12.1,including GRB10A and IGFB1 in a mother and a daughter with features of Silver-Russell syndrome GenAtlas
2 HHT4 610655 791087 35551 7p14 303 Telangiectasia, hereditary hemorrhagic, type 4 OMIM
3 DFNB44 610154 449484 34816 7p141-q1122 714 deafness, autosomal recessive 44 OMIM
4 UD7PA - - 19343 7 2979 uniparental disomy,paternal,with cystic fibrosis,complete situs inversus,immotile cilia,including any cases of congenital chloride diarrhea GenAtlas

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

$Revision: 1.58.2.9.2.46 $