Osteopetrosis

At a minimum, these SNPs are known to be related, and others may also be

	Max Magnitude
rs1054016	0
rs119460973	0
rs12926089	0
rs1805034	0
rs2277439	0
rs35211496	0
rs398123011	5.8
rs587777490	5.8
rs794727287	0

Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.GHR

Mutations in at least ten genes cause the various types of osteopetrosis. Mutations in the CLCN7 gene are responsible for about 75 percent of cases of autosomal dominant osteopetrosis, 10 to 15 percent of cases of autosomal recessive osteopetrosis, and all known cases of intermediate autosomal osteopetrosis. TCIRG1 gene mutations cause about 50 percent of cases of autosomal recessive osteopetrosis. Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. In about 30 percent of all cases of osteopetrosis, the cause of the condition is unknown. Other genes that may harbor osteopetrosis mutations include the following: CA2, ITGB3, OSTM1,PLEKHM1, SNX10, TNFRSF11A, TNFSF11.GHR

A celebrity cat with osteopetrosis, Lil Bub, has been sequenced and determined to have a mutation in the TNFRSF11A gene, said to have been found in fifteen humans so far.10.1101/556761