H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0008549

TranscriptsHIT000002487
HIT000076953
HIT000088044
HIT000092645
HIT000095542
HIT000098268
HIT000099092
HIT000196289
HIT000261052
HIT000268071
HIT000329808
UCSC Genome browserchr9:139388896-139440238
G-integrachr9:139388896-139440238
Map position9q34.3

SymbolNOTCH1
OMIM190198 Protein title: NOTCH, DROSOPHILA, HOMOLOG OF, 1
Disease name
  • Aortic valve disease (109730)
  • Leukemia, T-cell acute lymphoblastic
MutationView190198
(JRE version 1.4.0 or later is required.)

Orphan diseases co-localized with HIX0008549

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 JBTS1 213300 50955 33180 9q343 211 Joubert syndrome 1 OMIM
2 SCAR2 213200 1165 34060 9q343 211 spinocerebellar ataxia, autosomal recessive 2 OMIM
3 DFNB33 607239 170508 34144 9q34 469 deafness, autosomal recessive 33 OMIM
4 SPDA2 183840 791255 - 9q31-q34 955 Spondyloarthropathy, susceptibility to, 2 OMIM
5 HCHGQ2 609320 100381205 34875 9q 1739 Hematocrit/hemoglobin quantitative trait locus 2 OMIM
6 SPG19 607152 140907 34669 9q 1739 spastic paraplegia 19 (autosomal dominant) OMIM

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

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