Disease ID | Disease name | Source of annotation with NOTCH1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
130020 | EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE | ClinVar | link to OMIM | 3 | TNXB, NOTCH1, COL3A1 |
234750 | HEART, MALFORMATION OF | ClinVar | link to OMIM | 3 | MYH6, TBX5, NOTCH1 |
PS109730 | AORTIC VALVE DISEASE | ClinVar, OMIM | link to OMIM | 4 | NOTCH1, GATA5, SMAD6, COL5A1 |
154700 | MARFAN SYNDROME | ClinVar | link to OMIM | 8 | NOTCH1, LTBP2, FBN2, FBN1, COL5A1, COL5A2, MYH11, COL3A1 |
140500 | HEART, MALFORMATION OF | ClinVar | link to OMIM | 3 | MYH6, TBX5, NOTCH1 |
PS100300 | ADAMS-OLIVER SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | NOTCH1, DLL4, EOGT, DOCK6, RBPJ, ARHGAP31 |
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 |
Prion diseases | hsa05020 | 7.48 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells | R-HSA-210744 | 10.18 |
Signaling by NOTCH | R-HSA-157118 | 6.2 |
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant | R-HSA-2660826 | 10.18 |
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant | R-HSA-2660825 | 10.18 |
Pre-NOTCH Processing in the Endoplasmic Reticulum | R-HSA-1912399 | 10.4 |
Notch-HLH transcription pathway | R-HSA-350054 | 9.28 |
Developmental Biology | R-HSA-1266738 | 3.48 |
Generic Transcription Pathway | R-HSA-212436 | 3.86 |
Gene Expression | R-HSA-74160 | 2.72 |
Disease | R-HSA-1643685 | 3.33 |
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants | R-HSA-2894862 | 7.15 |
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 |
Diseases of signal transduction | R-HSA-5663202 | 4.89 |
NOTCH1 Intracellular Domain Regulates Transcription | R-HSA-2122947 | 7.43 |
Pre-NOTCH Processing in Golgi | R-HSA-1912420 | 8.81 |
Pre-NOTCH Expression and Processing | R-HSA-1912422 | 7.49 |
Activated NOTCH1 Transmits Signal to the Nucleus | R-HSA-2122948 | 8.08 |
Signaling by NOTCH1 | R-HSA-1980143 | 6.81 |
Regulation of beta-cell development | R-HSA-186712 | 7.98 |
Signaling by NOTCH1 in Cancer | R-HSA-2644603 | 7.15 |
Signaling by NOTCH1 PEST Domain Mutants in Cancer | R-HSA-2644602 | 7.15 |
FBXW7 Mutants and NOTCH1 in Cancer | R-HSA-2644605 | 10.66 |
Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling | R-HSA-2644607 | 10.66 |
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 |
Pre-NOTCH Transcription and Translation | R-HSA-1912408 | 8.12 |
Signal Transduction | R-HSA-162582 | 1.78 |
GO term | GO ID | GO IC |
---|---|---|
enzyme binding | GO:0019899 | 2.27 |
molecular transducer activity | GO:0060089 | 2.32 |
transcription factor activity, RNA polymerase II transcription factor binding | GO:0001076 | 4.84 |
macromolecular complex binding | GO:0044877 | 2.61 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
DNA binding | GO:0003677 | 1.92 |
enzyme inhibitor activity | GO:0004857 | 3.78 |
molecular function regulator | GO:0098772 | 2.51 |
heterocyclic compound binding | GO:1901363 | 1.06 |
sequence-specific DNA binding | GO:0043565 | 2.79 |
structure-specific DNA binding | GO:0043566 | 4.98 |
transcriptional activator activity, RNA polymerase II transcription factor binding | GO:0001190 | 5.77 |
ion binding | GO:0043167 | 1.36 |
calcium ion binding | GO:0005509 | 3.17 |
transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
transcription factor activity, protein binding | GO:0000988 | 3.35 |
metal ion binding | GO:0046872 | 1.41 |
Notch binding | GO:0005112 | 6.85 |
cation binding | GO:0043169 | 1.4 |
enzyme regulator activity | GO:0030234 | 2.85 |
regulatory region DNA binding | GO:0000975 | 3.03 |
regulatory region nucleic acid binding | GO:0001067 | 3.03 |
transcriptional repressor activity, RNA polymerase II transcription factor binding | GO:0001191 | 5.28 |
core promoter binding | GO:0001047 | 4.71 |
protein dimerization activity | GO:0046983 | 2.72 |
transcription regulatory region DNA binding | GO:0044212 | 3.03 |
chromatin binding | GO:0003682 | 3.64 |
chromatin DNA binding | GO:0031490 | 5.37 |
transcription factor activity, sequence-specific DNA binding | GO:0003700 | 2.65 |
organic cyclic compound binding | GO:0097159 | 1.05 |
nucleic acid binding transcription factor activity | GO:0001071 | 2.65 |
protein binding | GO:0005515 | 0.46 |
transcriptional repressor activity, RNA polymerase II activating transcription factor binding | GO:0098811 | 5.77 |
receptor binding | GO:0005102 | 2.43 |
protein heterodimerization activity | GO:0046982 | 3.64 |
receptor activity | GO:0004872 | 2.32 |