Disease ID | Disease name | Source of annotation with NOTCH3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
125310 | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | NOTCH3 |
130720 | LATERAL MENINGOCELE SYNDROME | ClinVar, OMIM | link to OMIM | 1 | NOTCH3 |
PS228550 | INFANTILE MYOFIBROMATOSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | PDGFRB, NOTCH3 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Notch signaling pathway | hsa04330 | 7.12 |
Thyroid hormone signaling pathway | hsa04919 | 5.82 |
Dorso-ventral axis formation | hsa04320 | 8.01 |
MicroRNAs in cancer | hsa05206 | 5.38 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Signaling by NOTCH3 | R-HSA-1980148 | 9.52 |
Gene Expression | R-HSA-74160 | 2.72 |
Pre-NOTCH Transcription and Translation | R-HSA-1912408 | 8.12 |
Pre-NOTCH Processing in the Endoplasmic Reticulum | R-HSA-1912399 | 10.4 |
Generic Transcription Pathway | R-HSA-212436 | 3.86 |
Pre-NOTCH Processing in Golgi | R-HSA-1912420 | 8.81 |
Pre-NOTCH Expression and Processing | R-HSA-1912422 | 7.49 |
Signaling by NOTCH | R-HSA-157118 | 6.2 |
Notch-HLH transcription pathway | R-HSA-350054 | 9.28 |
Signal Transduction | R-HSA-162582 | 1.78 |
GO term | GO ID | GO IC |
---|---|---|
binding | GO:0005488 | 0.18 |
cation binding | GO:0043169 | 1.4 |
enzyme binding | GO:0019899 | 2.27 |
ion binding | GO:0043167 | 1.36 |
molecular transducer activity | GO:0060089 | 2.32 |
receptor activity | GO:0004872 | 2.32 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
calcium ion binding | GO:0005509 | 3.17 |