Search Results : Cancer

1954 interactions found:

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Novel Symbols Name 1 Name 2
Pathways 1
Pathways 2
Drugs 1
Drugs 2
Diseases 1
Diseases 2
Novel
Novel
Symbols
LMNA and NINJ2
Name 1
lamin A/C
Name2
ninjurin 2
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and TFRC
Name 1
lamin A/C
Name2
transferrin receptor
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Golgi Associated Vesicle Biogenesis
  • Cargo recognition for clathrin-mediated endocytosis
  • Clathrin-mediated endocytosis
  • RHOA GTPase cycle
  • RHOB GTPase cycle
  • RHOC GTPase cycle
  • CDC42 GTPase cycle
  • RAC1 GTPase cycle
  • RAC2 GTPase cycle
  • RHOQ GTPase cycle
  • RHOH GTPase cycle
  • RHOG GTPase cycle
  • RHOJ GTPase cycle
  • RAC3 GTPase cycle
  • Transferrin endocytosis and recycling
  • RND2 GTPase cycle
  • RND1 GTPase cycle
  • Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
Drugs 1
Drugs 2
  • Iron
  • Ferrous sulfate anhydrous
  • Ferric cation
  • Ferrous gluconate
  • Ferrous succinate
  • Ferrous ascorbate
  • Ferrous fumarate
  • Ferrous glycine sulfate
  • Tetraferric tricitrate decahydrate
  • Ferric derisomaltose
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and UPK1B
Name 1
lamin A/C
Name2
uroplakin 1B
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and SYNGR1
Name 1
lamin A/C
Name2
synaptogyrin 1
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Neutrophil degranulation
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and ZSCAN12
Name 1
lamin A/C
Name2
zinc finger and SCAN domain containing 12
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and VAMP5
Name 1
lamin A/C
Name2
vesicle associated membrane protein 5
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and ADGRE2
Name 1
lamin A/C
Name2
adhesion G protein-coupled receptor E2
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Class B/2 (Secretin family receptors)
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and SLC38A7
Name 1
lamin A/C
Name2
solute carrier family 38 member 7
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and RPRM
Name 1
lamin A/C
Name2
reprimo, TP53 dependent G2 arrest mediator homolog
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and FA2H
Name 1
lamin A/C
Name2
fatty acid 2-hydroxylase
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Sphingolipid de novo biosynthesis
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and TMEM243
Name 1
lamin A/C
Name2
transmembrane protein 243
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and CNIH3
Name 1
lamin A/C
Name2
cornichon family AMPA receptor auxiliary protein 3
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • COPII-mediated vesicle transport
  • Cargo concentration in the ER
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and SLC30A8
Name 1
lamin A/C
Name2
solute carrier family 30 member 8
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Insulin processing
  • Zinc efflux and compartmentalization by the SLC30 family
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
  • Type II diabetes mellitus
Novel
Novel
Symbols
LMNA and TMEM218
Name 1
lamin A/C
Name2
transmembrane protein 218
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
LMNA and NALCN
Name 1
lamin A/C
Name2
sodium leak channel, non-selective
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Stimuli-sensing channels
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Novel
Symbols
BCL2 and BMF
Name 1
BCL2 apoptosis regulator
Name2
Bcl2 modifying factor
Pathway 1
  • Activation of BAD and translocation to mitochondria
  • BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
  • Interleukin-4 and Interleukin-13 signaling
  • The NLRP1 inflammasome
  • Estrogen-dependent gene expression
  • Estrogen-dependent nuclear events downstream of ESR-membrane signaling
  • NFE2L2 regulating tumorigenic genes
  • Regulation of MITF-M-dependent genes involved in apoptosis
Pathway 2
  • BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
  • Activation of BMF and translocation to mitochondria
Drugs 1
  • Ibuprofen
  • Paclitaxel
  • Docetaxel
  • Rasagiline
  • AN-9
  • Paclitaxel docosahexaenoic acid
  • Apoptone
  • Eribulin
  • Dexibuprofen
  • Venetoclax
  • Obatoclax
  • Navitoclax
  • Terpinen-4-ol
  • Oleandrin
Drugs 2
Diseases 1
  • Cervical cancer
  • Kaposi's sarcoma
  • Chronic lymphocytic leukemia (CLL)
  • Gastric cancer
  • Nasopharyngeal cancer
  • Choriocarcinoma
  • Small cell lung cancer
Diseases 2
Novel
Novel
Symbols
PTPRC and ANP32A
Name 1
protein tyrosine phosphatase receptor type C
Name2
acidic nuclear phosphoprotein 32 family member A
Pathway 1
  • Phosphorylation of CD3 and TCR zeta chains
  • Other semaphorin interactions
  • Neutrophil degranulation
Pathway 2
  • HuR (ELAVL1) binds and stabilizes mRNA
Drugs 1
Drugs 2
Diseases 1
  • T-B+Severe combined immunodeficiencies (SCIDs), including the following eight diseases: X-linked SCID; Janus kinase-3 (Jak3) deficiency; IL-7 receptor alpha (IL7R alpha) deficiency; IL-2 receptor alpha (IL2R alpha) deficiency; CD45 deficiency; CD3 deficiency; Winged Helix Nude (WHN) deficiency; Immunodeficiency with thynoma
Diseases 2
Novel
Novel
Symbols
ALOX5 and ALOX5AP
Name 1
arachidonate 5-lipoxygenase
Name2
arachidonate 5-lipoxygenase activating protein
Pathway 1
  • Synthesis of 5-eicosatetraenoic acids
  • Synthesis of Leukotrienes (LT) and Eoxins (EX)
  • Biosynthesis of Lipoxins (LX)
  • Interleukin-4 and Interleukin-13 signaling
  • Neutrophil degranulation
  • Interleukin-18 signaling
  • Biosynthesis of D-series resolvins
  • Biosynthesis of maresins
  • Biosynthesis of E-series 18(S)-resolvins
  • Biosynthesis of aspirin-triggered D-series resolvins
  • Biosynthesis of E-series 18(R)-resolvins
  • Biosynthesis of DPAn-3-derived protectins and resolvins
  • Biosynthesis of DPAn-3-derived maresins
  • Biosynthesis of DPAn-3-derived 13-series resolvins
  • Biosynthesis of electrophilic ω-3 PUFA oxo-derivatives
Pathway 2
  • Synthesis of 5-eicosatetraenoic acids
  • Synthesis of Leukotrienes (LT) and Eoxins (EX)
  • Biosynthesis of Lipoxins (LX)
Drugs 1
  • Icosapent
  • Vitamin E
  • Masoprocol
  • Aminosalicylic acid
  • Mesalazine
  • Montelukast
  • Diethylcarbamazine
  • Zileuton
  • Sulfasalazine
  • Meclofenamic acid
  • Balsalazide
  • Minocycline
  • Hyperforin
  • Resveratrol
  • Licofelone
  • MLN-977
  • Morniflumate
  • Diacerein
  • Fostamatinib
  • Rhein
  • alpha-Tocopherol succinate
  • D-alpha-Tocopherol acetate
Drugs 2
  • DG031
  • AM103
  • Fiboflapon
  • Veliflapon
  • MK-886
Diseases 1
Diseases 2
Novel
Novel
Symbols
XRCC6 and PDX1
Name 1
X-ray repair cross complementing 6
Name2
pancreatic and duodenal homeobox 1
Pathway 1
  • 2-LTR circle formation
  • Cytosolic sensors of pathogen-associated DNA
  • IRF3-mediated induction of type I IFN
  • Nonhomologous End-Joining (NHEJ)
  • Neutrophil degranulation
Pathway 2
  • Regulation of gene expression in beta cells
  • Regulation of gene expression in early pancreatic precursor cells
  • Developmental Lineage of Pancreatic Acinar Cells
  • Developmental Lineage of Pancreatic Ductal Cells
  • Developmental Lineage of Multipotent Pancreatic Progenitor Cells
Drugs 1
Drugs 2
Diseases 1
Diseases 2
  • Permanent neonatal diabetes mellitus (PNDM)
  • Pancreatic agenesis
  • Maturity onset diabetes of the young (MODY)
Novel
Novel
Symbols
XRCC6 and BAZ1A
Name 1
X-ray repair cross complementing 6
Name2
bromodomain adjacent to zinc finger domain 1A
Pathway 1
  • 2-LTR circle formation
  • Cytosolic sensors of pathogen-associated DNA
  • IRF3-mediated induction of type I IFN
  • Nonhomologous End-Joining (NHEJ)
  • Neutrophil degranulation
Pathway 2
Drugs 1
Drugs 2
Diseases 1
Diseases 2
Novel
Symbols
LMNA and NINJ2
Name 1
lamin A/C
Name2
ninjurin 2
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and TFRC
Name 1
lamin A/C
Name2
transferrin receptor
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Golgi Associated Vesicle Biogenesis
  • Cargo recognition for clathrin-mediated endocytosis
  • Clathrin-mediated endocytosis
  • RHOA GTPase cycle
  • RHOB GTPase cycle
  • RHOC GTPase cycle
  • CDC42 GTPase cycle
  • RAC1 GTPase cycle
  • RAC2 GTPase cycle
  • RHOQ GTPase cycle
  • RHOH GTPase cycle
  • RHOG GTPase cycle
  • RHOJ GTPase cycle
  • RAC3 GTPase cycle
  • Transferrin endocytosis and recycling
  • RND2 GTPase cycle
  • RND1 GTPase cycle
  • Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
Drugs 1
Drugs 2
  • Iron
  • Ferrous sulfate anhydrous
  • Ferric cation
  • Ferrous gluconate
  • Ferrous succinate
  • Ferrous ascorbate
  • Ferrous fumarate
  • Ferrous glycine sulfate
  • Tetraferric tricitrate decahydrate
  • Ferric derisomaltose
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and UPK1B
Name 1
lamin A/C
Name2
uroplakin 1B
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and SYNGR1
Name 1
lamin A/C
Name2
synaptogyrin 1
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Neutrophil degranulation
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and ZSCAN12
Name 1
lamin A/C
Name2
zinc finger and SCAN domain containing 12
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and VAMP5
Name 1
lamin A/C
Name2
vesicle associated membrane protein 5
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and ADGRE2
Name 1
lamin A/C
Name2
adhesion G protein-coupled receptor E2
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Class B/2 (Secretin family receptors)
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and SLC38A7
Name 1
lamin A/C
Name2
solute carrier family 38 member 7
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and RPRM
Name 1
lamin A/C
Name2
reprimo, TP53 dependent G2 arrest mediator homolog
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and FA2H
Name 1
lamin A/C
Name2
fatty acid 2-hydroxylase
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Sphingolipid de novo biosynthesis
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and TMEM243
Name 1
lamin A/C
Name2
transmembrane protein 243
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and CNIH3
Name 1
lamin A/C
Name2
cornichon family AMPA receptor auxiliary protein 3
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • COPII-mediated vesicle transport
  • Cargo concentration in the ER
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and SLC30A8
Name 1
lamin A/C
Name2
solute carrier family 30 member 8
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Insulin processing
  • Zinc efflux and compartmentalization by the SLC30 family
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
  • Type II diabetes mellitus
Novel
Symbols
LMNA and TMEM218
Name 1
lamin A/C
Name2
transmembrane protein 218
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
LMNA and NALCN
Name 1
lamin A/C
Name2
sodium leak channel, non-selective
Pathway 1
  • XBP1(S) activates chaperone genes
  • Signaling by BRAF and RAF1 fusions
Pathway 2
  • Stimuli-sensing channels
Drugs 1
Drugs 2
Diseases 1
  • 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
Diseases 2
Novel
Symbols
BCL2 and BMF
Name 1
BCL2 apoptosis regulator
Name2
Bcl2 modifying factor
Pathway 1
  • Activation of BAD and translocation to mitochondria
  • BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
  • Interleukin-4 and Interleukin-13 signaling
  • The NLRP1 inflammasome
  • Estrogen-dependent gene expression
  • Estrogen-dependent nuclear events downstream of ESR-membrane signaling
  • NFE2L2 regulating tumorigenic genes
  • Regulation of MITF-M-dependent genes involved in apoptosis
Pathway 2
  • BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
  • Activation of BMF and translocation to mitochondria
Drugs 1
  • Ibuprofen
  • Paclitaxel
  • Docetaxel
  • Rasagiline
  • AN-9
  • Paclitaxel docosahexaenoic acid
  • Apoptone
  • Eribulin
  • Dexibuprofen
  • Venetoclax
  • Obatoclax
  • Navitoclax
  • Terpinen-4-ol
  • Oleandrin
Drugs 2
Diseases 1
  • Cervical cancer
  • Kaposi's sarcoma
  • Chronic lymphocytic leukemia (CLL)
  • Gastric cancer
  • Nasopharyngeal cancer
  • Choriocarcinoma
  • Small cell lung cancer
Diseases 2
Novel
Symbols
PTPRC and ANP32A
Name 1
protein tyrosine phosphatase receptor type C
Name2
acidic nuclear phosphoprotein 32 family member A
Pathway 1
  • Phosphorylation of CD3 and TCR zeta chains
  • Other semaphorin interactions
  • Neutrophil degranulation
Pathway 2
  • HuR (ELAVL1) binds and stabilizes mRNA
Drugs 1
Drugs 2
Diseases 1
  • T-B+Severe combined immunodeficiencies (SCIDs), including the following eight diseases: X-linked SCID; Janus kinase-3 (Jak3) deficiency; IL-7 receptor alpha (IL7R alpha) deficiency; IL-2 receptor alpha (IL2R alpha) deficiency; CD45 deficiency; CD3 deficiency; Winged Helix Nude (WHN) deficiency; Immunodeficiency with thynoma
Diseases 2
Novel
Symbols
ALOX5 and ALOX5AP
Name 1
arachidonate 5-lipoxygenase
Name2
arachidonate 5-lipoxygenase activating protein
Pathway 1
  • Synthesis of 5-eicosatetraenoic acids
  • Synthesis of Leukotrienes (LT) and Eoxins (EX)
  • Biosynthesis of Lipoxins (LX)
  • Interleukin-4 and Interleukin-13 signaling
  • Neutrophil degranulation
  • Interleukin-18 signaling
  • Biosynthesis of D-series resolvins
  • Biosynthesis of maresins
  • Biosynthesis of E-series 18(S)-resolvins
  • Biosynthesis of aspirin-triggered D-series resolvins
  • Biosynthesis of E-series 18(R)-resolvins
  • Biosynthesis of DPAn-3-derived protectins and resolvins
  • Biosynthesis of DPAn-3-derived maresins
  • Biosynthesis of DPAn-3-derived 13-series resolvins
  • Biosynthesis of electrophilic ω-3 PUFA oxo-derivatives
Pathway 2
  • Synthesis of 5-eicosatetraenoic acids
  • Synthesis of Leukotrienes (LT) and Eoxins (EX)
  • Biosynthesis of Lipoxins (LX)
Drugs 1
  • Icosapent
  • Vitamin E
  • Masoprocol
  • Aminosalicylic acid
  • Mesalazine
  • Montelukast
  • Diethylcarbamazine
  • Zileuton
  • Sulfasalazine
  • Meclofenamic acid
  • Balsalazide
  • Minocycline
  • Hyperforin
  • Resveratrol
  • Licofelone
  • MLN-977
  • Morniflumate
  • Diacerein
  • Fostamatinib
  • Rhein
  • alpha-Tocopherol succinate
  • D-alpha-Tocopherol acetate
Drugs 2
  • DG031
  • AM103
  • Fiboflapon
  • Veliflapon
  • MK-886
Diseases 1
Diseases 2
Novel
Symbols
XRCC6 and PDX1
Name 1
X-ray repair cross complementing 6
Name2
pancreatic and duodenal homeobox 1
Pathway 1
  • 2-LTR circle formation
  • Cytosolic sensors of pathogen-associated DNA
  • IRF3-mediated induction of type I IFN
  • Nonhomologous End-Joining (NHEJ)
  • Neutrophil degranulation
Pathway 2
  • Regulation of gene expression in beta cells
  • Regulation of gene expression in early pancreatic precursor cells
  • Developmental Lineage of Pancreatic Acinar Cells
  • Developmental Lineage of Pancreatic Ductal Cells
  • Developmental Lineage of Multipotent Pancreatic Progenitor Cells
Drugs 1
Drugs 2
Diseases 1
Diseases 2
  • Permanent neonatal diabetes mellitus (PNDM)
  • Pancreatic agenesis
  • Maturity onset diabetes of the young (MODY)
Novel
Symbols
XRCC6 and BAZ1A
Name 1
X-ray repair cross complementing 6
Name2
bromodomain adjacent to zinc finger domain 1A
Pathway 1
  • 2-LTR circle formation
  • Cytosolic sensors of pathogen-associated DNA
  • IRF3-mediated induction of type I IFN
  • Nonhomologous End-Joining (NHEJ)
  • Neutrophil degranulation
Pathway 2
Drugs 1
Drugs 2
Diseases 1
Diseases 2

Page 38 out of 98 pages

© Madhavi K. Ganapathiraju 2012-2025