Disease ID | Disease name | Source of annotation with MIB1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS604169 | LEFT VENTRICULAR NONCOMPACTION | ClinVar, OMIM, HUMSAVAR | link to OMIM | 9 | TPM1, PRDM16, LDB3, MYH7, TNNT2, MYBPC3, ACTC1, DTNA, MIB1 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Constitutive Signaling by NOTCH1 HD Domain Mutants | R-HSA-2691232 | 9.08 |
Signaling by NOTCH1 HD Domain Mutants in Cancer | R-HSA-2691230 | 9.08 |
Signaling by NOTCH1 | R-HSA-1980143 | 6.81 |
Signaling by NOTCH2 | R-HSA-1980145 | 7.98 |
Diseases of signal transduction | R-HSA-5663202 | 4.89 |
Signaling by NOTCH1 in Cancer | R-HSA-2644603 | 7.15 |
Signaling by NOTCH1 PEST Domain Mutants in Cancer | R-HSA-2644602 | 7.15 |
Constitutive Signaling by NOTCH1 PEST Domain Mutants | R-HSA-2644606 | 7.15 |
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer | R-HSA-2894858 | 7.15 |
Signal Transduction | R-HSA-162582 | 1.78 |
Signaling by NOTCH | R-HSA-157118 | 6.2 |
Activated NOTCH1 Transmits Signal to the Nucleus | R-HSA-2122948 | 8.08 |
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants | R-HSA-2894862 | 7.15 |
Disease | R-HSA-1643685 | 3.33 |
NOTCH2 Activation and Transmission of Signal to the Nucleus | R-HSA-2979096 | 8.59 |
GO term | GO ID | GO IC |
---|---|---|
ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
cation binding | GO:0043169 | 1.4 |
transition metal ion binding | GO:0046914 | 2.48 |
ubiquitin-protein transferase activity | GO:0004842 | 3.73 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
ligase activity | GO:0016874 | 3.72 |
zinc ion binding | GO:0008270 | 2.66 |