Condition: Tumoral Calcinosis, Normophosphatemic, Familial
rs121918554
in
SAMD9
gene and
Tumoral Calcinosis, Normophosphatemic, Familial
PMID 16960814
2006 A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
PMID 18094730
2008 Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
PMID 28346228
2017 Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.