DiseaseInfo Viewer : HIX0011157

Transcripts	HIT000037806 HIT000099652 HIT000196649 HIT000264524 HIT000385096 HIT000432461
UCSC Genome browser	chr13:20761605-20767114
G-integra	chr13:20761605-20767114
Map position	13q12.11
Symbol	GJB2
OMIM	121011 Protein title: GAP JUNCTION PROTEIN, BETA-2
Disease name	Bart-Pumphrey syndrome (149200) Deafness, autosomal dominant 3A (601544) Deafness, autosomal recessive 1A (220290) Hystrix-like ichthyosis with deafness (602540) Keratitis-ichthyosis-deafness syndrome (148210) Keratoderma, palmoplantar, with deafness (148350) Vohwinkel syndrome (124500)
MutationView	121011 (JRE version 1.4.0 or later is required.)

Orphan diseases co-localized with HIX0011157

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	ADHD6	612312	100190791	-	13q1211	151	Attention deficit-hyperactivity disorder, susceptibility to, 6	OMIM
2	MCI2	608557	100233226	-	13q12	416	Myocardial infarction, susceptiblity to, 2	OMIM
3	FECD2	610158	100188278	35392	13pter-q1213	265	corneal dystrophy, Fuchs endothelial 2	OMIM
4	ATOD5	605844	117188	-	13q12-q14	773	Dermatitis, atopic, 5	OMIM
5	CLF	604595	54501	33624	13q	1392	cholesterol-lowering factor	OMIM

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

$Revision: 1.58.2.9.2.46 $