Disease ID | Disease name | Source of annotation with SLC33A1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
614482 | CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SLC33A1 |
PS303350 | SPASTIC PARAPLEGIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 47 | KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Glycosphingolipid biosynthesis - ganglio series | hsa00604 | 8.77 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
SLC-mediated transmembrane transport | R-HSA-425407 | 4.95 |
Transport of vitamins, nucleosides, and related molecules | R-HSA-425397 | 7.73 |
Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
GO term | GO ID | GO IC |
---|---|---|
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
cofactor transporter activity | GO:0051184 | 6.69 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
secondary active transmembrane transporter activity | GO:0015291 | 4.29 |
symporter activity | GO:0015293 | 4.78 |
solute:cation symporter activity | GO:0015294 | 5.15 |
acetyl-CoA transporter activity | GO:0008521 | 9.05 |
transporter activity | GO:0005215 | 2.57 |
cation transmembrane transporter activity | GO:0008324 | 3.32 |
ion transmembrane transporter activity | GO:0015075 | 3.04 |
transmembrane transporter activity | GO:0022857 | 2.82 |
solute:proton symporter activity | GO:0015295 | 6.48 |
coenzyme transporter activity | GO:0051185 | 8.13 |
active transmembrane transporter activity | GO:0022804 | 3.85 |