H-InvDB x AHG DB
DiseaseInfo Viewer
H-InvDB_8.3 released on March 26, 2013.
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DiseaseInfo Viewer : HIX0020427

TranscriptsHIT000021169
HIT000038131
HIT000052265
HIT000075263
HIT000075264
HIT000078205
HIT000078206
HIT000079673
HIT000080225
HIT000222850
HIT000243889
HIT000276790
HIT000286410
HIT000321942
HIT000385291
HIT000424817
HIT000424856
HIT000429583
UCSC Genome browserchr12:10516368-10562745
G-integrachr12:10516368-10562745
Map position12p13.2

SymbolKLRC4
OMIMNA
Disease nameNA
MutationView-

Orphan diseases co-localized with HIX0020427

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 PCS 168710 8075 - 12p132 226 Parotid proline-rich salivary protein Pc OMIM
2 MAFD9 612372 100196917 - 12p133 488 Major affective disorder-9, susceptibility to OMIM
3 EDS8 130080 791254 34480 12p13 585 Ehlers-Danlos syndrome, type VIII OMIM
4 SAX1 108600 114610 34111 12p13 585 spastic ataxia 1 (autosomal dominant) OMIM
5 DFNB62 610143 692220 35315 12p132-p1123 366 deafness, autosomal recessive 62 OMIM
6 DFNB32 - 113877 34142 12p13-p11 744 neurosensory desfness 32 GenAtlas
7 KAR 107920 8083 - 12p 744 Aromatic alpha-keto acid reductase OMIM
8 IBD2 601458 3378 7615 12p132-q241 1511 inflammatory bowel disease 2 OMIM
9 TELM 609113 550641 35207 12 2213 telomere length, mean leukocyte OMIM
10 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.

$Revision: 1.58.2.9.2.46 $