Disease ID | Disease name | Source of annotation with PAFAH1B1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS607432 | LISSENCEPHALY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 9 | CDK5, APOC3, PAFAH1B1, ARX, DCX, LAMB1, TUBA1A, RELN, KATNB1 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Ether lipid metabolism | hsa00565 | 7.28 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Separation of Sister Chromatids | R-HSA-2467813 | 5.55 |
Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
Loss of Nlp from mitotic centrosomes | R-HSA-380259 | 7.03 |
Cell Cycle | R-HSA-1640170 | 3.89 |
Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
Recruitment of mitotic centrosome proteins and complexes | R-HSA-380270 | 6.68 |
Resolution of Sister Chromatid Cohesion | R-HSA-2500257 | 6.18 |
Mitotic Metaphase and Anaphase | R-HSA-2555396 | 5.45 |
Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
Cell Cycle, Mitotic | R-HSA-69278 | 4.16 |
G2/M Transition | R-HSA-69275 | 6.06 |
RHO GTPases Activate Formins | R-HSA-5663220 | 6.01 |
Loss of proteins required for interphase microtubule organization from the centrosome | R-HSA-380284 | 7.03 |
Centrosome maturation | R-HSA-380287 | 6.68 |
Mitotic G2-G2/M phases | R-HSA-453274 | 6.04 |
M Phase | R-HSA-68886 | 4.87 |
Anchoring of the basal body to the plasma membrane | R-HSA-5620912 | 6.51 |
Mitotic Anaphase | R-HSA-68882 | 5.46 |
RHO GTPase Effectors | R-HSA-195258 | 4.94 |
Regulation of PLK1 Activity at G2/M Transition | R-HSA-2565942 | 6.66 |
Mitotic Prometaphase | R-HSA-68877 | 6.08 |
Signal Transduction | R-HSA-162582 | 1.78 |
GO term | GO ID | GO IC |
---|---|---|
enzyme binding | GO:0019899 | 2.27 |
macromolecular complex binding | GO:0044877 | 2.61 |
binding | GO:0005488 | 0.18 |
sulfur compound binding | GO:1901681 | 4.32 |
protein dimerization activity | GO:0046983 | 2.72 |
dynein binding | GO:0045502 | 6.44 |
dynein intermediate chain binding | GO:0045505 | 8.13 |
protein complex binding | GO:0032403 | 3.09 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |
dynactin binding | GO:0034452 | 7.79 |
hydrolase activity | GO:0016787 | 1.9 |
tubulin binding | GO:0015631 | 4.1 |
microtubule binding | GO:0008017 | 4.42 |
carboxylic ester hydrolase activity | GO:0052689 | 4.81 |
catalytic activity | GO:0003824 | 1.05 |
phospholipase binding | GO:0043274 | 6.91 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
heparin binding | GO:0008201 | 4.68 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
phosphoprotein binding | GO:0051219 | 5.64 |
glycosaminoglycan binding | GO:0005539 | 4.42 |
protein binding | GO:0005515 | 0.46 |
phospholipase A2 activity | GO:0004623 | 6.24 |
phospholipase activity | GO:0004620 | 5.16 |
lipase activity | GO:0016298 | 4.96 |