| CLK1 and HADH |
CDC like kinase 1 |
hydroxyacyl-CoA dehydrogenase |
|
- Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
- Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
- Beta oxidation of octanoyl-CoA to hexanoyl-CoA
- Beta oxidation of hexanoyl-CoA to butanoyl-CoA
- Beta oxidation of butanoyl-CoA to acetyl-CoA
|
- Debromohymenialdisine
- ethyl 3-[(E)-2-amino-1-cyanoethenyl]-6,7-dichloro-1-methyl-1H-indole-2-carboxylate
|
- NADH
- Acetoacetyl-CoA
- 3-Hydroxybutyryl-Coenzyme A
|
|
- Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
|
| CLTC and GRIN1 |
clathrin heavy chain |
glutamate ionotropic receptor NMDA type subunit 1 |
- Entry of Influenza Virion into Host Cell via Endocytosis
- Retrograde neurotrophin signalling
- Retrograde neurotrophin signalling
- Gap junction degradation
- Formation of annular gap junctions
- MHC class II antigen presentation
- EPH-ephrin mediated repulsion of cells
- Lysosome Vesicle Biogenesis
- Recycling pathway of L1
- Recycling pathway of L1
- WNT5A-dependent internalization of FZD4
- WNT5A-dependent internalization of FZD2, FZD5 and ROR2
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- VLDLR internalisation and degradation
- LDL clearance
|
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Synaptic adhesion-like molecules
- Assembly and cell surface presentation of NMDA receptors
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
|
- Glutamic Acid
- Atomoxetine
- Pentobarbital
- Secobarbital
- Pethidine
- Acamprosate
- Gabapentin
- Memantine
- Orphenadrine
- Phenobarbital
- Prasterone
- Dcka, 5,7-Dichlorokynurenic Acid
- D-Serine
- Cycloleucine
- Milnacipran
- CNS-5161
- Acetylcysteine
- Ketobemidone
- Gavestinel
- Agmatine
- Ifenprodil
- Magnesium acetate tetrahydrate
- Magnesium carbonate
- Fluciclovine (18F)
|
|
|
| CMA1 and EDN1 |
chymase 1 |
endothelin 1 |
- Signaling by SCF-KIT
- Activation of Matrix Metalloproteinases
- Metabolism of Angiotensinogen to Angiotensins
|
- Peptide ligand-binding receptors
- G alpha (q) signalling events
|
- Benzylsulfinic Acid
- 2-(N-Morpholino)-Ethanesulfonic Acid
- 2-[3-({Methyl[1-(2-Naphthoyl)Piperidin-4-Yl]Amino}Carbonyl)-2-Naphthyl]-1-(1-Naphthyl)-2-Oxoethylphosphonic Acid
- [(1S)-1-(5-CHLORO-1-BENZOTHIEN-3-YL)-2-(2-NAPHTHYLAMINO)-2-OXOETHYL]PHOSPHONIC ACID
|
|
|
|
| CCR3 and HCK |
C-C motif chemokine receptor 3 |
HCK proto-oncogene, Src family tyrosine kinase |
- Chemokine receptors bind chemokines
- G alpha (i) signalling events
|
- Nef and signal transduction
- FCGR activation
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- FLT3 Signaling
- FCGR3A-mediated IL10 synthesis
- FCGR3A-mediated phagocytosis
|
|
- 1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- Phosphonotyrosine
- Quercetin
- Bosutinib
|
|
|
| CNN1 and ECSIT |
calponin 1 |
ECSIT signaling integrator |
|
- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- Complex I biogenesis
- TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
- MyD88 cascade initiated on plasma membrane
|
|
|
|
|
| COL2A1 and COL6A1 |
collagen type II alpha 1 chain |
collagen type VI alpha 1 chain |
- Collagen degradation
- Collagen degradation
- Extracellular matrix organization
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- Integrin cell surface interactions
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- MET activates PTK2 signaling
- Collagen chain trimerization
|
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- Collagenase clostridium histolyticum
|
|
- Type II collagenopathies, including: Achondrogenesis II; Hypochondrogenesis; SED congenita; SMED Strudwick type; Kniest dysplasia; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Stickler syndrome 1; Platyspondylic skeletal dysplasia, Torrance type; Epiphyseal dysplasia, multiple, with myopia and deafness; Czech dysplasia
- Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC)
- Osteoarthritis with mild chondrodysplasia
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
| COL6A1 and MAG |
collagen type VI alpha 1 chain |
myelin associated glycoprotein |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- Axonal growth inhibition (RHOA activation)
- Basigin interactions
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
|
| COL6A1 and DNAJB11 |
collagen type VI alpha 1 chain |
DnaJ heat shock protein family (Hsp40) member B11 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- XBP1(S) activates chaperone genes
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
|
| COL6A1 and PDGFA |
collagen type VI alpha 1 chain |
platelet derived growth factor subunit A |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- Non-integrin membrane-ECM interactions
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
- Malignant pleural mesothelioma
- Glioma
|
| COL6A1 and PDGFB |
collagen type VI alpha 1 chain |
platelet derived growth factor subunit B |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- Platelet degranulation
- PIP3 activates AKT signaling
- Downstream signal transduction
- Signaling by PDGF
- Constitutive Signaling by Aberrant PI3K in Cancer
- Non-integrin membrane-ECM interactions
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
- Malignant pleural mesothelioma
- Glioma
|
| COL6A1 and PDK1 |
collagen type VI alpha 1 chain |
pyruvate dehydrogenase kinase 1 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- Regulation of pyruvate dehydrogenase (PDH) complex
- Signaling by Retinoic Acid
|
|
- 4-[(3-CHLORO-4-{[(2R)-3,3,3-TRIFLUORO-2-HYDROXY-2-METHYLPROPANOYL]AMINO}PHENYL)SULFONYL]-N,N-DIMETHYLBENZAMIDE
- Dichloroacetic Acid
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
|
| COL6A1 and PIGS |
collagen type VI alpha 1 chain |
phosphatidylinositol glycan anchor biosynthesis class S |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- Attachment of GPI anchor to uPAR
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
|
| COL6A1 and CSTB |
collagen type VI alpha 1 chain |
cystatin B |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
- Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD)
|
| COL6A1 and LAMB1 |
collagen type VI alpha 1 chain |
laminin subunit beta 1 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- Degradation of the extracellular matrix
- Laminin interactions
- Laminin interactions
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- L1CAM interactions
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- MET activates PTK2 signaling
- Post-translational protein phosphorylation
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
|
| COL6A1 and FGF7 |
collagen type VI alpha 1 chain |
fibroblast growth factor 7 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- PI3K Cascade
- PIP3 activates AKT signaling
- FGFR2b ligand binding and activation
- Activated point mutants of FGFR2
- Constitutive Signaling by Aberrant PI3K in Cancer
- Phospholipase C-mediated cascade; FGFR2
- PI-3K cascade:FGFR2
- SHC-mediated cascade:FGFR2
- FRS-mediated FGFR2 signaling
- Negative regulation of FGFR2 signaling
- Signaling by FGFR2 in disease
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
|
| COL6A1 and FAM3B |
collagen type VI alpha 1 chain |
FAM3 metabolism regulating signaling molecule B |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
|
| COL6A1 and HCFC2 |
collagen type VI alpha 1 chain |
host cell factor C2 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
|
| COL6A1 and LCMT2 |
collagen type VI alpha 1 chain |
leucine carboxyl methyltransferase 2 |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- Synthesis of wybutosine at G37 of tRNA(Phe)
- Synthesis of wybutosine at G37 of tRNA(Phe)
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
|
| COL6A1 and DCN |
collagen type VI alpha 1 chain |
decorin |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- Degradation of the extracellular matrix
- A tetrasaccharide linker sequence is required for GAG synthesis
- Chondroitin sulfate biosynthesis
- Dermatan sulfate biosynthesis
- CS/DS degradation
- ECM proteoglycans
- ECM proteoglycans
- Defective B4GALT7 causes EDS, progeroid type
- Defective B3GAT3 causes JDSSDHD
- Defective CHST3 causes SEDCJD
- Defective CHST14 causes EDS, musculocontractural type
- Defective CHSY1 causes TPBS
- Defective B3GALT6 causes EDSP2 and SEMDJL1
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
- Congenital stromal corneal dystrophy (CSCD); Congenital hereditary stromal dystrophy; Witschel dystrophy
|
| COL6A1 and MPRIP |
collagen type VI alpha 1 chain |
myosin phosphatase Rho interacting protein |
- Collagen degradation
- Collagen biosynthesis and modifying enzymes
- Signaling by PDGF
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- ECM proteoglycans
- ECM proteoglycans
- NCAM1 interactions
- Collagen chain trimerization
|
- Signaling by BRAF and RAF fusions
|
|
|
- Ossification of the posterior longitudinal ligament of spine (OPLL)
- 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
|
|