Disease ID | Disease name | Source of annotation with JPH1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS118220 | CHARCOT-MARIE-TOOTH DISEASE | OMIM | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, TRIM2, JPH1, PLEKHG5, DNM2, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, NEFH, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, MFN2, YARS, GARS |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
structural constituent of muscle | GO:0008307 | 6.02 |
structural molecule activity | GO:0005198 | 3.1 |