Disease ID | Disease name | Source of annotation with GJC2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS153100 | LYMPHEDEMA, HEREDITARY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | FLT4, VEGFC, GJC2 |
PS312080 | LEUKODYSTROPHY, HYPOMYELINATING | ClinVar, OMIM, HUMSAVAR | link to OMIM | 13 | PYCR2, POLR3B, HIKESHI, AIMP1, GJC2, POLR3A, VPS11, PLP1, HSPD1, POLR1C, FAM126A, RARS, TUBB4A |
PS303350 | SPASTIC PARAPLEGIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 47 | KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ARL6IP1, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, VPS37A, L1CAM, TFG, RTN2, CYP7B1, ERLIN2, KIF1A, AP4M1, AMPD2, SPAST, SPG20, AP4S1, HSPD1, SPG21, PLP1, REEP1, ALDH18A1, TECPR2, BSCL2, PNPLA6, SPG7, CYP2U1, NT5C2, NIPA1, DDHD1, CPT1C, ZFYVE27, AP4B1, FA2H |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Membrane Trafficking | R-HSA-199991 | 5.26 |
Gap junction trafficking | R-HSA-190828 | 7.59 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
Gap junction trafficking and regulation | R-HSA-157858 | 7.52 |
Gap junction assembly | R-HSA-190861 | 8.03 |
GO term | GO ID | GO IC |
---|---|---|
transporter activity | GO:0005215 | 2.57 |
transmembrane transporter activity | GO:0022857 | 2.82 |
channel activity | GO:0015267 | 3.6 |
wide pore channel activity | GO:0022829 | 6.6 |
passive transmembrane transporter activity | GO:0022803 | 3.6 |
gap junction channel activity | GO:0005243 | 7.1 |