| Disease ID | Disease name | Source of annotation with NEFH | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM | 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 | OMIM | 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 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | hsa05014 | 7.01 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein binding, bridging | GO:0030674 | 4.68 |
| structural constituent of cytoskeleton | GO:0005200 | 5.12 |
| toxic substance binding | GO:0015643 | 7.25 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| microtubule binding | GO:0008017 | 4.42 |
| tubulin binding | GO:0015631 | 4.1 |
| enzyme binding | GO:0019899 | 2.27 |
| structural molecule activity | GO:0005198 | 3.1 |
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| kinesin binding | GO:0019894 | 6.24 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein heterodimerization activity | GO:0046982 | 3.64 |
| dynein binding | GO:0045502 | 6.44 |
| binding, bridging | GO:0060090 | 4.57 |