Disease ID | Disease name | Source of annotation with CAV1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS178600 | PULMONARY HYPERTENSION, PRIMARY | OMIM | link to OMIM | 5 | SMAD9, KCNK3, KCNA5, CAV1, BMPR2 |
606721 | PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME | OMIM | link to OMIM | 1 | CAV1 |
PS608594 | LIPODYSTROPHY, CONGENITAL GENERALIZED | ClinVar, OMIM | link to OMIM | 4 | BSCL2, PTRF, AGPAT2, CAV1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Proteoglycans in cancer | hsa05205 | 5.02 |
Viral myocarditis | hsa05416 | 6.45 |
Bacterial invasion of epithelial cells | hsa05100 | 6.34 |
Endocytosis | hsa04144 | 4.92 |
Focal adhesion | hsa04510 | 4.92 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
eNOS activation | R-HSA-203615 | 9.98 |
VEGFA-VEGFR2 Pathway | R-HSA-4420097 | 4.7 |
Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis | R-HSA-163560 | 8.66 |
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Basigin interactions | R-HSA-210991 | 8.34 |
Signaling by VEGF | R-HSA-194138 | 4.66 |
eNOS activation and regulation | R-HSA-203765 | 8.81 |
Metabolism of nitric oxide | R-HSA-202131 | 8.81 |
disassembly of the destruction complex and recruitment of AXIN to the membrane | R-HSA-4641262 | 8.03 |
Signaling by Wnt | R-HSA-195721 | 4.79 |
Metabolism | R-HSA-1430728 | 2.34 |
NOSTRIN mediated eNOS trafficking | R-HSA-203641 | 10.66 |
Lipid digestion, mobilization, and transport | R-HSA-73923 | 7.2 |
TCF dependent signaling in response to WNT | R-HSA-201681 | 5.36 |
VEGFR2 mediated vascular permeability | R-HSA-5218920 | 8.28 |
Cell surface interactions at the vascular wall | R-HSA-202733 | 6.32 |
Hemostasis | R-HSA-109582 | 3.98 |
Signal Transduction | R-HSA-162582 | 1.78 |
GO term | GO ID | GO IC |
---|---|---|
RNA polymerase I transcription factor binding | GO:0001179 | 9.05 |
Rho GTPase binding | GO:0017048 | 5.36 |
small GTPase binding | GO:0031267 | 4.13 |
GTPase binding | GO:0051020 | 4.05 |
small molecule binding | GO:0036094 | 1.89 |
binding | GO:0005488 | 0.18 |
ion channel binding | GO:0044325 | 5.02 |
molecular function regulator | GO:0098772 | 2.51 |
potassium channel inhibitor activity | GO:0019870 | 7.66 |
SNARE binding | GO:0000149 | 4.87 |
structural molecule activity | GO:0005198 | 3.1 |
protein complex scaffold | GO:0032947 | 5.5 |
channel inhibitor activity | GO:0016248 | 6.13 |
channel regulator activity | GO:0016247 | 4.88 |
patched binding | GO:0005113 | 7.66 |
potassium channel regulator activity | GO:0015459 | 5.93 |
identical protein binding | GO:0042802 | 2.63 |
sterol binding | GO:0032934 | 5.98 |
ATPase binding | GO:0051117 | 5.41 |
enzyme regulator activity | GO:0030234 | 2.85 |
peptidase regulator activity | GO:0061134 | 4.37 |
inward rectifier potassium channel inhibitor activity | GO:0070320 | 9.74 |
lipid binding | GO:0008289 | 3.26 |
Ras GTPase binding | GO:0017016 | 4.2 |
protein kinase binding | GO:0019901 | 3.44 |
kinase binding | GO:0019900 | 3.32 |
syntaxin binding | GO:0019905 | 5.19 |
enzyme binding | GO:0019899 | 2.27 |
steroid binding | GO:0005496 | 5.24 |
ion channel inhibitor activity | GO:0008200 | 6.15 |
receptor binding | GO:0005102 | 2.43 |
transcription factor binding | GO:0008134 | 3.46 |
binding, bridging | GO:0060090 | 4.57 |
nitric-oxide synthase binding | GO:0050998 | 6.91 |
protein binding, bridging | GO:0030674 | 4.68 |
cholesterol binding | GO:0015485 | 6.1 |
alcohol binding | GO:0043178 | 5.53 |
organic cyclic compound binding | GO:0097159 | 1.05 |
Rac GTPase binding | GO:0048365 | 6.05 |
protein binding | GO:0005515 | 0.46 |
MDM2/MDM4 family protein binding | GO:0097371 | 7.95 |
peptidase activator activity | GO:0016504 | 6.13 |
protein dimerization activity | GO:0046983 | 2.72 |
protein heterodimerization activity | GO:0046982 | 3.64 |
enzyme activator activity | GO:0008047 | 3.56 |