Search Results for: C5

Novel Symbol Description Pathways Hide Drugs Hide Diseases Hide
CREB3L1 cAMP responsive element binding protein 3 like 1
  • CREB3 factors activate genes
EBP EBP cholestenol delta-isomerase
  • Cholesterol biosynthesis via desmosterol
  • Cholesterol biosynthesis via lathosterol
  • Tamoxifen
KEL Kell metallo-endopeptidase (Kell blood group)
  • Peptide ligand-binding receptors
  • Phosphoramidon
KIR3DL3 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3
LMNA lamin A/C
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
  • Mandibuloacral dysplasia
  • Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
  • Emery-Dreifuss muscular dystrophy
  • Dilated cardiomyopathy (DCM)
  • Limb-girdle muscular dystrophy (LGMD)
  • Hutchinson-Gilford progeria syndrome
  • Restrictive dermopathy
  • Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
  • Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
MMGT1 membrane magnesium transporter 1
  • Miscellaneous transport and binding events
NEMP1 nuclear envelope integral membrane protein 1
PGRMC2 progesterone receptor membrane component 2
  • RHOA GTPase cycle
  • RAC2 GTPase cycle
  • RHOD GTPase cycle
  • RHOG GTPase cycle
  • RAC3 GTPase cycle
  • Heme signaling
POU6F2 POU class 6 homeobox 2
SSMEM1 serine rich single-pass membrane protein 1
VEZT vezatin, adherens junctions transmembrane protein

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