|
Entry |
Name |
Definition |
|
N91290
|
TNNT2 gain-of-function mutation to Actin thin filament, muscle contraction
|
TNNT2* -^
|
|
N91291
|
TPM3 mutation to Myosin thick filament
|
TPM3*
|
|
N91292
|
TPM3 gain-of-function mutation to Myosin thick filament
|
TPM3* -^
|
|
N91293
|
NEB mutation to Actin thin filament, length regulation
|
NEB*
|
|
N91294
|
ACTA1 mutation to Actin thin filament
|
ACTA1*
|
|
N91295
|
TPM2 mutation to Myosin thick filament
|
TPM2*
|
|
N91296
|
TPM2 gain-of-function mutation to Myosin thick filament
|
TPM2*-^
|
|
N91297
|
ACTC1 mutation to Actin thin filament
|
ACTC1*
|
|
N91298
|
ACTC1 gain-of-function mutation to Actin thin filament
|
ACTC1* -^
|
|
N91299
|
TPM1 mutation to Myosin thick filament
|
TPM1*
|
|
N91300
|
TPM1 gain-of-function mutation to Myosin thick filament
|
TPM1* -^
|
|
N91301
|
LMOD2 mutation to Actin thin filament, length regulation
|
LMOD2*
|
|
N91302
|
LMOD1 mutation to Actin thin filament, length regulation
|
LMOD1*
|
|
N91303
|
MYOT mutation to Sarcomere, Z-disc
|
MYOT*
|
|
N91304
|
FHOD3 mutation to Sarcomere, Z-disc
|
FHOD3*
|
|
N91305
|
MYPN mutation to Sarcomere, Z-disc
|
MYPN*
|
|
N91306
|
MYOZ2 mutation to Sarcomere, Z-disc
|
MYOZ2*
|
|
N91307
|
CAPN1 mutation to Sarcomere, M-band
|
CAPN1*
|
|
N91308
|
CFL2 mutation to Sarcomere, M-band
|
CFL2*
|
|
N91309
|
CAPN3 mutation to Sarcomere, M-band
|
CAPN3*
|
|
N91310
|
EMD mutation to LINC complex
|
EMD*
|
|
N91311
|
LMNA mutation to LINC complex
|
LMNA*
|
|
N91312
|
SYNE2 mutation to LINC complex
|
SYNE2*
|
|
N91313
|
LMNB1 overexpression to LINC complex
|
LMNB1* -^
|
|
N91314
|
LMNB1 mutation to LINC complex
|
LMNB1*
|
|
N91315
|
LMNB2 mutation to LINC complex
|
LMNB2*
|
|
N91316
|
LBR mutation to LINC complex
|
LBR*
|
|
N91317
|
PLEC mutation to LINC complex
|
PLEC*
|
|
N91318
|
FGF23 gain-of-function mutation in FGF23-NCC/NPT signaling pathway
|
FGF23* -^
|
|
N91319
|
FGF23 mutation in FGF23-NCC/NPT signaling pathway
|
FGF23*
|
|
N91320
|
WNK1 gain-of-function mutation in FGF23-NCC/NPT signaling pathway
|
WNK1* -^
|
|
N91321
|
WNK1 mutation in FGF23-NCC/NPT signaling pathway
|
WNK1*
|
|
N91322
|
WNK4 gain-of-function mutation in FGF23-NCC/NPT signaling pathway
|
WNK4* -^
|
|
N91323
|
NHERF1 mutation in FGF23-NCC/NPT signaling pathway
|
NHERF1*
|
|
N91324
|
SLC34A1 mutation in FGF23-NCC/NPT signaling pathway
|
SLC34A1*
|
|
N91325
|
SLC34A3 mutation in FGF23-NCC/NPT signaling pathway
|
SLC34A3*
|
|
N91326
|
SLC12A3 mutation in FGF23-NCC/NPT signaling pathway
|
SLC12A3*
|
|
N91327
|
KL mutation in FGF23-NCC/NPT signaling pathway
|
KL*
|
|
N91328
|
ACTN2 mutation to Vinculin-talin-integrin macromolecular complex
|
ACTN2*
|
|
N91329
|
ACTB mutation to Vinculin-talin-integrin macromolecular complex
|
ACTB*
|