KEGG VARIANT: 9180v1

VARIANT: 9180v1

Entry

9180v1                      Variant

Name

OSMR mutation

Type

Loss of function

Gene

OSMR oncostatin M receptor [KO:K05057]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 601743

Network

nt06518 JAK-STAT signaling

Disease

Primary localized cutaneous amyloidosis

Reference

Authors

Arita K, Abe R, Baba K, McGrath JA, Akiyama M, Shimizu H

Title

A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family.

Journal

J Dermatol Sci 55:64-5 (2009)
DOI:10.1016/j.jdermsci.2009.03.003

LinkDB

DBGET integrated database retrieval system