Disease-gene associations mined from literature

Literature associating ADPRM and Kabuki syndrome

ADPRM [ENSP00000369099]

ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent; Hydrolyzes ADP-ribose, IDP-ribose, CDP-glycerol, CDP- choline and CDP-ethanolamine, but not other non-reducing ADP- sugars or CDP-glucose. May be involved in immune cell signaling as suggested by the second-messenger role of ADP-ribose, which activates TRPM2 as a mediator of oxidative/nitrosative stress (By similarity).

Synonyms:  ADPRM,  Q3LIE5,  V9GYR6,  W0NWJ0,  C17orf48 ...

Linkouts:  STRING  Pharos  UniProt