Identifier | Name |
---|---|
R-HSA-4719375 | Defective DPM2 does not transfer mannose to DOLP to form DOLPman |
R-HSA-4719354 | Defective DPM3 does not transfer mannose to DOLP to form DOLPman |
R-HSA-3791349 | Defective EPM2A does not dephosphorylate phosphoglycogen (type 2A disease) |
R-HSA-9036285 | Defective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan |
R-HSA-3656257 | Defective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan |
R-HSA-3656261 | Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain |
R-HSA-9036283 | Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue |
R-HSA-3656267 | Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparan |
R-HSA-9036289 | Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparan |
R-HSA-9036290 | Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to heparan |
R-HSA-3656254 | Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain |
R-HSA-5602966 | Defective FMO3 does not N-oxidise TMA |
R-HSA-3274540 | Defective G6PC does not hydrolyze glucose 6-phosphate |
R-HSA-3282876 | Defective G6PC3 does not hydrolyze glucose 6-phosphate |
R-HSA-9036729 | Defective GAA does not hydrolyze lysosomal glycogen |
R-HSA-5610036 | Defective GALE does not epimerise UDP-Gal to UDP-Glc |
R-HSA-5610026 | Defective GALK1 does not phosphorylate Gal |
R-HSA-2263490 | Defective GALNS does not hydrolyse sulfate from Gal6S in keratan sulfate |
R-HSA-5096532 | Defective GALNT12 does not transfer GalNAc to mucins |
R-HSA-5096537 | Defective GALNT3 does not transfer GalNAc to mucins |
R-HSA-5610038 | Defective GALT does not transfer UMP to Gal1P |
R-HSA-3878762 | Defective GBE1 does not catalyze branch formation in growing glycogen chains (liver) |
R-HSA-5621918 | Defective GCK does not phosphorylate Glc to form G6P |
R-HSA-5602892 | Defective GCLC does not ligate L-Glu to L-Cys |
R-HSA-4085027 | Defective GFPT1 does not transfer an amino group from L-Gln to F6P to form GlcN6P |
R-HSA-9035966 | Defective GGT1 does not hydrolyse GSH |
R-HSA-5602984 | Defective GGT1 does not hydrolyse glutamate from AFXBO-SG, AFNBO-SG |
R-HSA-2265534 | Defective GLB1 does not hydrolyse a glycosaminoglycan |
R-HSA-9036061 | Defective GLB1 does not hydrolyse linker chain(2) |
R-HSA-4088338 | Defective GNE does not hydrolyse UDP-GlcNAc |
R-HSA-4088322 | Defective GNE does not phosphorylate ManNAc to ManNAc-6-P |
R-HSA-2263495 | Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S |
R-HSA-5602901 | Defective GSS does not synthesize GSH |
R-HSA-2318373 | Defective GUSB does not hydrolyse (HA)2 |
R-HSA-9036070 | Defective GUSB does not hydrolyse CS/HS precursor |
R-HSA-9036068 | Defective GUSB does not hydrolyse GlcA-β1,3-GlcNAc |
R-HSA-3814838 | Defective GYG1 is not autoglucosyolated |
R-HSA-3828061 | Defective GYS1 does not transfer glucose to growing glycogen chains |
R-HSA-3858506 | Defective GYS2 does not transfer glucose to growing glycogen chains |
R-HSA-3656259 | Defective HEXA does not cleave the terminal GalNAc from DS |
R-HSA-9035978 | Defective HEXA does not cleave the terminal GalNAc from keratan sulfate |
R-HSA-9035976 | Defective HEXA does not cleave the terminall GalNAc from small HA fragments |
R-HSA-3662344 | Defective HEXB does not cleave the terminal GalNAc from DS |
R-HSA-9035982 | Defective HEXB does not cleave the terminal GalNAc from HA fragments |
R-HSA-9035983 | Defective HEXB does not cleave the terminal GalNAc from keratan sulfate |
R-HSA-2263492 | Defective HGSNAT does not acetylate Heparan chain(1) |
R-HSA-9036056 | Defective HGSNAT does not acetylate Heparan sulfate chain(3) |
R-HSA-5621888 | Defective HK1 does not phosphorylate Glc to form G6P |
R-HSA-9035990 | Defective HLCS does not biotinylate 6x(PCCA:PCCB) |
R-HSA-9035987 | Defective HLCS does not biotinylate 6xMCCC1:6xMCCC2 |
R-HSA-3323184 | Defective HLCS does not biotinylate ACACA:Mn2+ |
R-HSA-9035988 | Defective HLCS does not biotinylate PC:Mn2+ |
R-HSA-9734274 | Defective HPRT1 does not convert guanine or hypoxanthine to GMP or IMP |
R-HSA-9036077 | Defective HYAL1 does not hydrolyse (HA)50 |
R-HSA-2318585 | Defective HYAL1 does not hydrolyse Chondroitin chains |
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