Disease ID | Disease name | Source of annotation with NPPA | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS608583 | ATRIAL FIBRILLATION, FAMILIAL | ClinVar, OMIM | link to OMIM | 13 | SCN3B, NUP155, SCN2B, KCNQ1, GJA5, ABCC9, SCN4B, KCNE2, KCNJ2, KCNA5, SCN5A, NPPA, SCN1B |
615745 | ATRIAL STANDSTILL 2 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | NPPA |
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
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
HIF-1 signaling pathway | hsa04066 | 5.9 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Generic Transcription Pathway | R-HSA-212436 | 3.86 |
Gene Expression | R-HSA-74160 | 2.72 |
Amyloids | R-HSA-977225 | 7.37 |
Disease | R-HSA-1643685 | 3.33 |
YAP1- and WWTR1 (TAZ)-stimulated gene expression | R-HSA-2032785 | 8.12 |
GO term | GO ID | GO IC |
---|---|---|
hormone activity | GO:0005179 | 4.95 |
neuropeptide hormone activity | GO:0005184 | 6.34 |
peptide hormone receptor binding | GO:0051428 | 6.91 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
G-protein coupled receptor binding | GO:0001664 | 4.18 |
neuropeptide receptor binding | GO:0071855 | 6.37 |
hormone receptor binding | GO:0051427 | 4.57 |
receptor binding | GO:0005102 | 2.43 |