Disease-gene associations mined from literature

Literature associating SAMD9 and IMAGe syndrome

SAMD9 [ENSP00000369292]

Sterile alpha motif domain-containing protein 9; May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion; Sterile alpha motif domain containing

Synonyms:  SAMD9,  SAMD9p,  hSAMD9,  C9JKF1,  Q5K651 ...

Linkouts:  STRING  Pharos  UniProt  OMIM