Disease ID | Disease name | Source of annotation with HGSNAT | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS268000 | RETINITIS PIGMENTOSA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 69 | PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A |
PS607014 | MUCOPOLYSACCHARIDOSES | ClinVar, OMIM, HUMSAVAR | link to OMIM | 11 | ARSB, GLB1, SGSH, GALNS, NAGLU, IDUA, GNPTAB, GUSB, HYAL1, IDS, HGSNAT |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Lysosome | hsa04142 | 5.78 |
Glycosaminoglycan degradation | hsa00531 | 8.45 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Mucopolysaccharidoses | R-HSA-2206281 | 9.52 |
Diseases of carbohydrate metabolism | R-HSA-5663084 | 8.28 |
Heparan sulfate/heparin (HS-GAG) metabolism | R-HSA-1638091 | 7.2 |
Diseases of metabolism | R-HSA-5668914 | 6.57 |
Metabolism | R-HSA-1430728 | 2.34 |
Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
HS-GAG degradation | R-HSA-2024096 | 8.52 |
Disease | R-HSA-1643685 | 3.33 |
MPS IIIC - Sanfilippo syndrome C | R-HSA-2206291 | 12.98 |
GO term | GO ID | GO IC |
---|---|---|
N-acetyltransferase activity | GO:0008080 | 5.27 |
acetyltransferase activity | GO:0016407 | 5.1 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
N-acyltransferase activity | GO:0016410 | 5.08 |
heparan-alpha-glucosaminide N-acetyltransferase activity | GO:0015019 | 9.74 |