Pathway Human Homo sapiens
Diseases associated with glycosaminoglycan metabolism
R-HSA-3560782 in Reactome release 97: under Diseases of glycosylation, with 41 genes placed in it by the mapping files and 15 child pathways in the hierarchy.
The same number in the other species
Reactome writes the mouse and rat events it infers from a human pathway under the human number with the species token. A door opens only where that species' own list in this release holds the id; neither of the other two lists holds it. Whether the event was inferred from this one is what the record says.
01The record
Reactome's own record of this pathway
What this tells you
The pathway list, the hierarchy and the genes on this page are read from the files Reactome publishes for Reactome release 97, built into this site on 2026-09-09: the pathway list, the hierarchy relationship file and the two gene mapping files. The record card is the one live read, Reactome's own record of this pathway.
Reactome's download page describes the mapping files: Mapping files link the source database identifier to the lowest level pathway diagram or subset of the pathway, all levels of the pathway hierarchy or database identifier to all reactions.
[R13] The gene list here is the all-levels mapping of NCBI Gene ids, filled from the all-levels mapping of Ensembl ids where the NCBI file has no row for a gene; each row names which file it came from by the shape of its source id. Each row carries the evidence codes the file writes for it, as written and unranked, and both where the file writes both; no page of Reactome's documentation the survey read defines the codes, so this page does not expand them. A gene id the identity files do not name is kept as the source's own id with no door rather than turned into a symbol.
On citing what a search finds, Reactome says: It should be remembered that while we strive to contain the most current and accurate data, Reactome should not be used in citations where other primary sources of information are available.
[R12] The record card prints the literature Reactome attaches to a curated pathway for that reason. The data are public domain: All data in the Reactome database and files derived from that data are licensed under the Creative Commons Public Domain Dedication (CC0). User may copy, modify, and distribute these data, even for commercial purposes, without asking for permission. Attribution is encouraged but not required.
[R10] The pathway illustrations are licensed apart, under CC BY 4.0, and none is shown here.
A gene on this list is one Reactome places in this pathway in this release, and that is all the row says: it does not say the gene is expressed in a tissue or associated with a disease, which are the other two explorers' questions, read from other sources. Reactome's papers of record are [R01] [R02].
- [R01] Ragueneau E, Gong C, Sinquin P, Sevilla C, Beavers D, Grentner A, et al. (2026). The Reactome Knowledgebase 2026. Nucleic Acids Research 54:D673-D681. PMID 41251150, doi 10.1093/nar/gkaf1223.
- [R02] Milacic M, Beavers D, Conley P, Gong C, Gillespie M, Griss J, et al. (2024). The Reactome Pathway Knowledgebase 2024. Nucleic Acids Research 52:D672-D678. PMID 37941124, doi 10.1093/nar/gkad1025.
- [R10] Reactome, reactome.org. License Agreement. https://reactome.org/license, read 2026-09-09.
- [R12] Reactome, reactome.org. Citing us. https://reactome.org/cite, read 2026-09-09.
- [R13] Reactome, reactome.org. Download. https://reactome.org/download-data, read 2026-09-09.
02The genes
Genes Reactome places in this human pathway
The mapping files place 41 genes in this human pathway; showing 1 to 41, in pages of 100, sorted by symbol for reading. The order carries no ranking.
| Gene | Authority id | Mapping file id | Evidence codes |
|---|---|---|---|
| GeneACAN | AuthorityHGNC:319 | Mapping file id176 NCBI file | EvidenceTAS |
| GeneAGRN | AuthorityHGNC:329 | Mapping file id375790 NCBI file | EvidenceTAS |
| GeneB3GALT6 | AuthorityHGNC:17978 | Mapping file id126792 NCBI file | EvidenceTAS |
| GeneB3GAT3 | AuthorityHGNC:923 | Mapping file id26229 NCBI file | EvidenceTAS |
| GeneB4GALT1 | AuthorityHGNC:924 | Mapping file id2683 NCBI file | EvidenceTAS |
| GeneB4GALT7 | AuthorityHGNC:930 | Mapping file id11285 NCBI file | EvidenceTAS |
| GeneBCAN | AuthorityHGNC:23059 | Mapping file id63827 NCBI file | EvidenceTAS |
| GeneBGN | AuthorityHGNC:1044 | Mapping file id633 NCBI file | EvidenceTAS |
| GeneCHST14 | AuthorityHGNC:24464 | Mapping file id113189 NCBI file | EvidenceTAS |
| GeneCHST3 | AuthorityHGNC:1971 | Mapping file id9469 NCBI file | EvidenceTAS |
| GeneCHST6 | AuthorityHGNC:6938 | Mapping file id4166 NCBI file | EvidenceTAS |
| GeneCHSY1 | AuthorityHGNC:17198 | Mapping file id22856 NCBI file | EvidenceTAS |
| GeneCSPG4 | AuthorityHGNC:2466 | Mapping file id1464 NCBI file | EvidenceTAS |
| GeneCSPG5 | AuthorityHGNC:2467 | Mapping file id10675 NCBI file | EvidenceTAS |
| GeneDCN | AuthorityHGNC:2705 | Mapping file id1634 NCBI file | EvidenceTAS |
| GeneEXT1 | AuthorityHGNC:3512 | Mapping file id2131 NCBI file | EvidenceTAS |
| GeneEXT2 | AuthorityHGNC:3513 | Mapping file id2132 NCBI file | EvidenceTAS |
| GeneFMOD | AuthorityHGNC:3774 | Mapping file id2331 NCBI file | EvidenceTAS |
| GeneGPC1 | AuthorityHGNC:4449 | Mapping file id2817 NCBI file | EvidenceTAS |
| GeneGPC2 | AuthorityHGNC:4450 | Mapping file id221914 NCBI file | EvidenceTAS |
| GeneGPC3 | AuthorityHGNC:4451 | Mapping file id2719 NCBI file | EvidenceTAS |
| GeneGPC4 | AuthorityHGNC:4452 | Mapping file id2239 NCBI file | EvidenceTAS |
| GeneGPC5 | AuthorityHGNC:4453 | Mapping file id2262 NCBI file | EvidenceTAS |
| GeneGPC6 | AuthorityHGNC:4454 | Mapping file id10082 NCBI file | EvidenceTAS |
| GeneHEXA | AuthorityHGNC:4878 | Mapping file id3073 NCBI file | EvidenceTAS |
| GeneHEXB | AuthorityHGNC:4879 | Mapping file id3074 NCBI file | EvidenceTAS |
| GeneHSPG2 | AuthorityHGNC:5273 | Mapping file id3339 NCBI file | EvidenceTAS |
| GeneKERA | AuthorityHGNC:6309 | Mapping file id11081 NCBI file | EvidenceTAS |
| GeneLUM | AuthorityHGNC:6724 | Mapping file id4060 NCBI file | EvidenceTAS |
| GeneNCAN | AuthorityHGNC:2465 | Mapping file id1463 NCBI file | EvidenceTAS |
| GeneOGN | AuthorityHGNC:8126 | Mapping file id4969 NCBI file | EvidenceTAS |
| GeneOMD | AuthorityHGNC:8134 | Mapping file id4958 NCBI file | EvidenceTAS |
| GenePAPSS2 | AuthorityHGNC:8604 | Mapping file id9060 NCBI file | EvidenceTAS |
| GenePRELP | AuthorityHGNC:9357 | Mapping file id5549 NCBI file | EvidenceTAS |
| GeneSDC1 | AuthorityHGNC:10658 | Mapping file id6382 NCBI file | EvidenceTAS |
| GeneSDC2 | AuthorityHGNC:10659 | Mapping file id6383 NCBI file | EvidenceTAS |
| GeneSDC3 | AuthorityHGNC:10660 | Mapping file id9672 NCBI file | EvidenceTAS |
| GeneSDC4 | AuthorityHGNC:10661 | Mapping file id6385 NCBI file | EvidenceTAS |
| GeneSLC26A2 | AuthorityHGNC:10994 | Mapping file id1836 NCBI file | EvidenceTAS |
| GeneST3GAL3 | AuthorityHGNC:10866 | Mapping file id6487 NCBI file | EvidenceTAS |
| GeneVCAN | AuthorityHGNC:2464 | Mapping file id1462 NCBI file | EvidenceTAS |
Evidence codes on this page: TAS, as the mapping file writes them; a row carrying two was written twice by the file, once under each. The mapping file id says which file placed the gene: an NCBI Gene id from NCBI2Reactome_All_Levels.txt, an Ensembl gene id from Ensembl2Reactome_All_Levels.txt. The two files can disagree about a code, so a row's codes are the one file's view. Measured by this site's build over this release on 2026-09-09: of the 138,908 human pathway-gene pairs both files place, 207 (0.149 per cent, over 47 genes) carry TAS in the Ensembl file where the NCBI rows carry IEA alone.
- Reactome mapping files, the human rows for this pathway · Reactome release 97 · read · Reactome downloads"NCBI2Reactome_All_Levels.txt" and "Ensembl2Reactome_All_Levels.txt", Reactome, release 97, https://reactome.org/download-data/ (date of access 2026-09-09). Data CC0; attribution encouraged.
03The hierarchy
Parents and children in this release's hierarchy
Children
- Defective B3GALT6 causes EDSP2 and SEMDJL1R-HSA-442033220 genes
- Defective B3GAT3 causes JDSSDHDR-HSA-356080120 genes
- Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)R-HSA-36562448 genes
- Defective B4GALT7 causes EDS, progeroid typeR-HSA-356078320 genes
- Defective CHST14 causes EDS, musculocontractural typeR-HSA-35951748 genes
- Defective CHST3 causes SEDCJDR-HSA-35951728 genes
- Defective CHST6 causes MCDC1R-HSA-36562258 genes
- Defective CHSY1 causes TPBSR-HSA-35951778 genes
- Defective EXT1 causes exostoses 1, TRPS2 and CHDSR-HSA-365625314 genes
- Defective EXT2 causes exostoses 2R-HSA-365623714 genes
- Defective HEXA causes GM2G1 (Hyaluronan metabolism)R-HSA-36562341 genes
- Defective HEXB causes GM2G2 (Hyaluronan metabolism)R-HSA-36562481 genes
- Defective PAPSS2 causes SEMD-PAR-HSA-35607961 genes
- Defective SLC26A2 causes chondrodysplasiasR-HSA-35607921 genes
- Defective ST3GAL3 causes MCT12 and EIEE15R-HSA-36562438 genes
Reactome's hierarchy is a graph rather than a tree: a pathway can sit under more than one parent, and the gene counts are each pathway's own placements at every level under it, so a parent's count is not the sum of its children's.
- Reactome, the human pathway list and hierarchy relationship file · Reactome release 97 · read · Reactome downloads"ReactomePathways.txt" and "ReactomePathwaysRelation.txt", Reactome, release 97, https://reactome.org/download-data/ (date of access 2026-09-09). Data CC0; attribution encouraged.