5,457
|
53239 |
TTN-p.Y7621C
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
|
24315344
|
Cardiomyopathy, familial restrictive
|
5,458
|
53253 |
DES-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
|
23143191
|
Cardiomyopathy, dilated
Cardiomyopathy, familial restrictive
Cardiomyopathy
Cardiomyopathy, hypertrophic
Arrhythmogenic right ventricular dysplasia, familial
|
5,459
|
53256 |
DES-p.Arg16Cys
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
this mutation affects only heart function
|
|
16376610
|
Cardiomyopathy, familial restrictive
|
6,531
|
62127 |
TNNI3-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
62128 |
TNNT2-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
62129 |
MYH7-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
62130 |
ACTC1-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
62131 |
TPM1-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
62132 |
MYL3-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
62133 |
PML-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
62134 |
MYBPC3-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
62137 |
MYPN-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
62138 |
TTN-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
62139 |
BAG3-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
62140 |
DES-mut
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
|
26472190
|
Cardiomyopathy, familial restrictive
|
6,619
|
63078 |
FLNC-p.S1624L
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
63080 |
FLNC-p.I2160F
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
63081 |
FLNC-p.S1624L
|
|
increases_activity of
|
heart failure
|
|
63088 |
FLNC-p.I2160F
|
|
increases_activity of
|
heart failure
|
|
63091 |
FLNC-p.S1624L
|
|
increases_activity of
|
diastolic dysfunction
|
|
63092 |
FLNC-p.I2160F
|
|
increases_activity of
|
diastolic dysfunction
|
|
63100 |
FLNC-p.S1624L
|
|
increases_activity of
|
protein aggregate formation
|
|
|
26666891
|
Cardiomyopathy, familial restrictive
|
6,620
|
63116 |
MYBPC3-p.Q463X
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
63123 |
MYBPC3-p.E334K
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
63129 |
MYBPC3-p.E334K
|
|
increases_activity of
|
congestive heart failure
|
|
63131 |
MYBPC3-p.Q463X
|
|
increases_activity of
|
congestive heart failure
|
|
63143 |
MYBPC3-p.Q463X
|
|
increases_activity of
|
decreased diastolic filling velocity
|
|
117299 |
MYBPC3
|
|
affects_activity of
|
Cardiomyopathy, familial restrictive
|
|
117300 |
MYBPC3
|
|
affects_activity of
|
congestive heart failure
|
|
117301 |
MYBPC3
|
|
affects_activity of
|
abnormal diastolic filling velocity
|
|
|
26163040
|
Cardiomyopathy, familial restrictive
|
6,621
|
63147 |
MYPN-p.Q526X
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
63148 |
MYPN-p.Q526X
|
|
increases_activity of
|
cardiac interstitial fibrosis
|
|
63149 |
MYPN-p.Q526X
|
|
increases_activity of
|
perivascular fibrosis
|
|
63398 |
MYPN-p.Q526X
|
|
decreases_activity of
|
diastolic dysfunction
|
|
63399 |
MYPN-p.Q526X
|
|
is localized in
|
nucleus
|
|
63400 |
MYPN-p.Q526X
|
|
decreases_quantity of
|
ANKRD1
|
|
63401 |
MYPN-p.Q526X
|
|
decreases_quantity of
|
MAPK3
|
|
63402 |
MYPN-p.Q526X
|
|
decreases_quantity of
|
MAPK1
|
|
63403 |
MYPN-p.Q526X
|
|
decreases_quantity of
|
SMAD2
|
|
63404 |
MYPN-p.Q526X
|
|
decreases_quantity of
|
AKT1
|
|
63405 |
MYPN-p.Q526X
|
|
increases_quantity of
|
MUC2
|
|
63406 |
MYPN-p.Q526X
|
|
increases_quantity of
|
DES
|
|
63407 |
MYPN-p.Q526X
|
|
increases_quantity of
|
NPPA
|
|
63408 |
MYPN-p.Q526X
|
|
increases_quantity of
|
NPPB
|
|
63409 |
MYPN-p.Q526X
|
|
increases_quantity of
|
MYH6
|
|
63410 |
MYPN-p.Q526X
|
|
increases_quantity of
|
ACTA2
|
|
63411 |
MYPN-p.Q526X
|
|
increases_quantity of
|
SPP1
|
|
|
25541130
|
Cardiomyopathy, familial restrictive
|
6,638
|
63442 |
TNNI3-p.Arg192His
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
63443 |
TNNI3-p.Arg204His
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
63444 |
TNNT2-Arsn100_Glu101del
|
|
increases_activity of
|
Cardiomyopathy, familial restrictive
|
|
|
23906401
|
Cardiomyopathy, familial restrictive
|