Disease ID | Disease name | Source of annotation with SNTA1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
603829 | VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1 | ClinVar | link to OMIM | 13 | DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP |
PS192500 | LONG QT SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 16 | ALG10, KCNJ5, KCNH2, CALM1, CALM2, KCNE1, ANK2, AKAP9, SCN5A, SCN4B, SNTA1, CACNA1C, KCNE2, KCNJ2, KCNQ1, CAV3 |
115000 | CARDIAC ARRHYTHMIA | ClinVar | link to OMIM | 25 | KCNE3, CACNB2, AKAP9, NPPA, KCNE1, SCN4B, CASQ2, KCNJ5, TANGO2, JUP, ANK2, KCNJ2, DSG2, NOS1AP, KCNJ8, LIG3, RYR2, CACNA1C, KCNE2, KCNH2, SCN5A, HCN4, SNTA1, SCN1B, KCNQ1 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
nitric-oxide synthase binding | GO:0050998 | 6.91 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
ATPase binding | GO:0051117 | 5.41 |
enzyme binding | GO:0019899 | 2.27 |
structural molecule activity | GO:0005198 | 3.1 |
actin binding | GO:0003779 | 3.74 |
sodium channel regulator activity | GO:0017080 | 6.3 |
PDZ domain binding | GO:0030165 | 5.22 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
channel regulator activity | GO:0016247 | 4.88 |
ion channel binding | GO:0044325 | 5.02 |
molecular function regulator | GO:0098772 | 2.51 |
protein domain specific binding | GO:0019904 | 3.32 |
calmodulin binding | GO:0005516 | 4.55 |