DISEASES

Disease-gene associations mined from literature

Literature associating RHBDL1 and Leber hereditary optic neuropathy

RHBDL1 [ENSP00000344206]

Rhomboid, veinlet-like 1 (Drosophila); May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors; Rhomboid family

Synonyms:  RHBDL1,  RHBDL1p,  hRHBDL1,  H3BQ51,  O75783 ...

Linkouts:  STRING  Pharos  UniProt