| Disease ID | Disease name | Source of annotation with FIG4 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 216340 | YUNIS-VARON SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FIG4 |
| PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS |
| PS105400 | AMYOTROPHIC LATERAL SCLEROSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | CHCHD10, FIG4, ERBB4, SQSTM1, ATXN2, UBQLN2, DCTN1, FUS, NEFH, PFN1, VAPB, MATR3, ALS2, TBK1, SPG11, TARDBP, TUBA4A, SIGMAR1, SOD1, CHMP2B, PRPH, ANG, VCP, OPTN, C9orf72, HNRNPA1, SETX |
| 612691 | POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FIG4 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Synthesis of PIPs at the Golgi membrane | R-HSA-1660514 | 8.81 |
| Synthesis of PIPs at the early endosome membrane | R-HSA-1660516 | 9.28 |
| Synthesis of PIPs at the late endosome membrane | R-HSA-1660517 | 9.66 |
| Phospholipid metabolism | R-HSA-1483257 | 5.83 |
| PI Metabolism | R-HSA-1483255 | 7.31 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| GO term | GO ID | GO IC |
|---|---|---|
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| phosphatase activity | GO:0016791 | 4.11 |
| phosphatidylinositol-4-phosphate phosphatase activity | GO:0043812 | 8.64 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| phosphatidylinositol phosphate 5-phosphatase activity | GO:0034595 | 7.17 |
| hydrolase activity | GO:0016787 | 1.9 |
| phosphatidylinositol monophosphate phosphatase activity | GO:0052744 | 7.1 |
| phosphatidylinositol-3-phosphatase activity | GO:0004438 | 7.1 |
| phosphatidylinositol bisphosphate phosphatase activity | GO:0034593 | 6.44 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity | GO:0043813 | 8.35 |
| phosphatidylinositol phosphate phosphatase activity | GO:0052866 | 6.34 |
| phosphatidylinositol phosphate 4-phosphatase activity | GO:0034596 | 7.54 |