Identifier | Name |
---|---|
R-HSA-9670619 | Defective ATRX does not bind DAXX |
R-HSA-5621425 | Defective AVP mutants do not bind AVPR1A,B |
R-HSA-9035517 | Defective AVP mutants do not bind AVPR2 |
R-HSA-4420365 | Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker |
R-HSA-6785565 | Defective B3GALTL does not transfer glucose to O-fucosyl-proteins |
R-HSA-3560802 | Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker |
R-HSA-4793956 | Defective B4GALT1 does not add Gal to N-glycan |
R-HSA-9035950 | Defective B4GALT1 does not transfer Gal to a branch of keratan |
R-HSA-9035949 | Defective B4GALT1 does not transfer Gal to the N-glycan precursor |
R-HSA-3656230 | Defective B4GALT1 does not transfer Gal to the keratan chain |
R-HSA-3560804 | Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker |
R-HSA-9699163 | Defective BARD1 does not bind BRCA1 |
R-HSA-9709268 | Defective BRCA2 does not translocate to the nucleus |
R-HSA-6785524 | Defective C1GALT1C1 does not bind C1GALT1 |
R-HSA-3315455 | Defective CBLIF does not bind Cbl |
R-HSA-3325546 | Defective CD320 does not transport extracellular TCII:Cbl to endosome |
R-HSA-5678822 | Defective CFTR does not transport Cl- from cytosol to extracellular region |
R-HSA-3636919 | Defective CHST14 does not transfer SO4(2-) to GalNAc in dermatan or DS |
R-HSA-3595175 | Defective CHST3 does not transfer SO4(2-) to chondroitin |
R-HSA-3656269 | Defective CHST6 does not transfer SO4(2-) to GlcNAc residues on keratan-PG |
R-HSA-3595176 | Defective CHSY1 does not transfer GalNAc to chondroitin |
R-HSA-3595178 | Defective CHSY1 does not transfer GlcA to chondroitin |
R-HSA-5621402 | Defective CP does not oxidise Fe2+ to Fe3+ |
R-HSA-5688899 | Defective CSF2RA does not bind SFTPs |
R-HSA-5688884 | Defective CSF2RB does not bind SFTPs |
R-HSA-3296462 | Defective CUBN does not transport GIF:Cbl |
R-HSA-5580269 | Defective CYP11A1 does not cleave 20a,22b-DHCHOL |
R-HSA-5580292 | Defective CYP11B1 does not oxidise 11DCORT |
R-HSA-5600598 | Defective CYP11B2 does not oxidise 11DCORST |
R-HSA-6785244 | Defective CYP11B2 does not oxidise 18HCORST |
R-HSA-6785245 | Defective CYP11B2 does not oxidise CORST |
R-HSA-9035954 | Defective CYP17A1 does not 17-hydroxylate P4 |
R-HSA-5601843 | Defective CYP17A1 does not 17-hydroxylate PREG |
R-HSA-9035956 | Defective CYP17A1 does not cleave 17aHPROG |
R-HSA-5601849 | Defective CYP19A1 does not convert ANDST to E1 |
R-HSA-5605147 | Defective CYP1B1 does not 4-hydroxylate EST17b |
R-HSA-5601976 | Defective CYP21A2 does not 21-hydroxylate PROG |
R-HSA-5602004 | Defective CYP24A1 does not 24-hydroxylate CALTOL |
R-HSA-5602063 | Defective CYP26B1 does not 4-hydroxylate atRA |
R-HSA-5602050 | Defective CYP26C1 does not 4-hydroxylate 9cRA |
R-HSA-9035960 | Defective CYP27A1 does not 27-hydroxylate 5β-CHOL3α,7α,24(s)-triol |
R-HSA-5602186 | Defective CYP27B1 does not hydroxylate CDL |
R-HSA-5602147 | Defective CYP2R1 does not 25-hydroxylate vitamin D |
R-HSA-5602242 | Defective CYP2U1 does not omega-hydroxylate ARA |
R-HSA-5602272 | Defective CYP4F22 does not 20-hydroxylate TrXA3 |
R-HSA-5602885 | Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL |
R-HSA-9701199 | Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of BRCA1 in PALB2 binding |
R-HSA-9704330 | Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in BRCA1 binding |
R-HSA-9704408 | Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in binding to BRCA2/RAD51/RAD51C |
R-HSA-9670620 | Defective DAXX does not bind ATRX |
R-HSA-5662851 | Defective DCXR does not reduce L-xylulose to xylitol |
R-HSA-4755545 | Defective DHDDS does not elongate E,E-FPP |
R-HSA-4755600 | Defective DOLK does not phosphorylate DCHOL |
R-HSA-4549334 | Defective DPAGT1 does not transfer GlcNAc to DOLP |
R-HSA-4717406 | Defective DPM1 does not transfer mannose to DOLP to form DOLPman |
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