7q11.23 copy number variation syndrome
Pathways in the 7q11.23 copy number variation syndrome SuperPath
| # | Name | Source | Genes |
|---|---|---|---|
| 1 | 7q11.23 copy number variation syndrome | WikiPathways |
Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways
| # | Symbol | Description | Category | # Related Pathways |
|---|---|---|---|---|
| 1 | H2AX | H2A.X Variant Histone | Protein Coding | 1 |
| 2 | ABHD11 | Abhydrolase Domain Containing 11 | Protein Coding | 1 |
| 3 | DLST | Dihydrolipoamide S-Succinyltransferase | Protein Coding | 1 |
| 4 | CLIP2 | CAP-Gly Domain Containing Linker Protein 2 | Protein Coding | 1 |
| 5 | LIMK1 | LIM Domain Kinase 1 | Protein Coding | 1 |
| 6 | GRIP1 | Glutamate Receptor Interacting Protein 1 | Protein Coding | 1 |
| 7 | GTF2IRD1 | GTF2I Repeat Domain Containing 1 | Protein Coding | 1 |
| 8 | EIF2AK3 | Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3 | Protein Coding | 1 |
| 9 | UBE2L6 | Ubiquitin Conjugating Enzyme E2 L6 | Protein Coding | 1 |
| 10 | CLDN1 | Claudin 1 | Protein Coding | 1 |
| 11 | BAZ1B | Bromodomain Adjacent To Zinc Finger Domain 1B | Protein Coding | 1 |
| 12 | SQSTM1 | Sequestosome 1 | Protein Coding | 1 |
| 13 | HDAC3 | Histone Deacetylase 3 | Protein Coding | 1 |
| 14 | BECN1 | Beclin 1 | Protein Coding | 1 |
| 15 | EIF2A | Eukaryotic Translation Initiation Factor 2A | Protein Coding | 1 |
| 16 | WNT2 | Wnt Family Member 2 | Protein Coding | 1 |
| 17 | LAT2 | Linker For Activation Of T Cells Family Member 2 | Protein Coding | 1 |
| 18 | USF1 | Upstream Transcription Factor 1 | Protein Coding | 1 |
| 19 | UBE2E1 | Ubiquitin Conjugating Enzyme E2 E1 | Protein Coding | 1 |
| 20 | CLDN5 | Claudin 5 | Protein Coding | 1 |
| 21 | BTK | Bruton Tyrosine Kinase | Protein Coding | 1 |
| 22 | STX1A | Syntaxin 1A | Protein Coding | 1 |
| 23 | SNAP25 | Synaptosome Associated Protein 25 | Protein Coding | 1 |
| 24 | RB1 | RB Transcriptional Corepressor 1 | Protein Coding | 1 |
| 25 | MAPK3 | Mitogen-Activated Protein Kinase 3 | Protein Coding | 1 |
| 26 | PRKG1 | Protein Kinase CGMP-Dependent 1 | Protein Coding | 1 |
| 27 | PKLR | Pyruvate Kinase L/R | Protein Coding | 1 |
| 28 | PCNA | Proliferating Cell Nuclear Antigen | Protein Coding | 1 |
| 29 | MLXIPL | MLX Interacting Protein Like | Protein Coding | 1 |
| 30 | OGDH | Oxoglutarate Dehydrogenase | Protein Coding | 1 |
| 31 | ATF4 | Activating Transcription Factor 4 | Protein Coding | 1 |
| 32 | MYC | MYC Proto-Oncogene, BHLH Transcription Factor | Protein Coding | 1 |
| 33 | FAS | Fas Cell Surface Death Receptor | Protein Coding | 1 |
| 34 | HSPA2 | Heat Shock Protein Family A (Hsp70) Member 2 | Protein Coding | 1 |
| 35 | ACACB | Acetyl-CoA Carboxylase Beta | Protein Coding | 1 |
| 36 | HMGA1 | High Mobility Group AT-Hook 1 | Protein Coding | 1 |
| 37 | ACACA | Acetyl-CoA Carboxylase Alpha | Protein Coding | 1 |
| 38 | NRG1 | Neuregulin 1 | Protein Coding | 1 |
| 39 | HDAC2 | Histone Deacetylase 2 | Protein Coding | 1 |
| 40 | UBIAD1 | UbiA Prenyltransferase Domain Containing 1 | Protein Coding | 1 |
| 41 | GTF2I | General Transcription Factor IIi | Protein Coding | 1 |
| 42 | GAPDH | Glyceraldehyde-3-Phosphate Dehydrogenase | Protein Coding | 1 |
| 43 | NUP62 | Nucleoporin 62 | Protein Coding | 1 |
| 44 | BRD4 | Bromodomain Containing 4 | Protein Coding | 1 |
| 45 | FBN1 | Fibrillin 1 | Protein Coding | 1 |
| 46 | FBLN2 | Fibulin 2 | Protein Coding | 1 |
| 47 | ELN | Elastin | Protein Coding | 1 |
| 48 | DLD | Dihydrolipoamide Dehydrogenase | Protein Coding | 1 |
| 49 | VPS37D | VPS37D Subunit Of ESCRT-I | Protein Coding | 1 |
| 50 | CTNNB1 | Catenin Beta 1 | Protein Coding | 1 |
| 51 | VPS37A | VPS37A Subunit Of ESCRT-I | Protein Coding | 1 |
| 52 | CLDN3 | Claudin 3 | Protein Coding | 1 |
| 53 | CLDN4 | Claudin 4 | Protein Coding | 1 |
| 54 | CLTC | Clathrin Heavy Chain | Protein Coding | 1 |
| 55 | CFL1 | Cofilin 1 | Protein Coding | 1 |
| 56 | FBLN5 | Fibulin 5 | Protein Coding | 1 |
| 57 | CDKN1C | Cyclin Dependent Kinase Inhibitor 1C | Protein Coding | 1 |
| 58 | HDAC6 | Histone Deacetylase 6 | Protein Coding | 1 |
| 59 | METTL27 | Methyltransferase Like 27 | Protein Coding | 1 |
| 60 | MVB12A | Multivesicular Body Subunit 12A | Protein Coding | 1 |
| 61 | BCL7B | BAF Chromatin Remodeling Complex Subunit BCL7B | Protein Coding | 1 |
| 62 | FKBP6 | FKBP Prolyl Isomerase Family Member 6 (Inactive) | Protein Coding | 1 |
| 63 | DNAJC30 | DnaJ Heat Shock Protein Family (Hsp40) Member C30 | Protein Coding | 1 |
| 64 | ULK1 | Unc-51 Like Autophagy Activating Kinase 1 | Protein Coding | 1 |
| 65 | TRIM50 | Tripartite Motif Containing 50 | Protein Coding | 1 |
| 66 | TMEM270 | Transmembrane Protein 270 | Protein Coding | 1 |
| 67 | BUD23 | BUD23 RRNA Methyltransferase And Ribosome Maturation Factor | Protein Coding | 1 |
| 68 | RNU6-1080P | RNA, U6 Small Nuclear 1080, Pseudogene | Pseudogene | 1 |
| 69 | UBE2E3 | Ubiquitin Conjugating Enzyme E2 E3 | Protein Coding | 1 |
| 70 | FZD9 | Frizzled Class Receptor 9 | Protein Coding | 1 |
| 71 | VPS37B | VPS37B Subunit Of ESCRT-I | Protein Coding | 1 |
| 72 | EIF4H | Eukaryotic Translation Initiation Factor 4H | Protein Coding | 1 |
| 73 | TSG101 | Tumor Susceptibility 101 | Protein Coding | 1 |
| 74 | VAMP2 | Vesicle Associated Membrane Protein 2 | Protein Coding | 1 |
| 75 | CHTF18 | Chromosome Transmission Fidelity Factor 18 | Protein Coding | 1 |
| 76 | RFC5 | Replication Factor C Subunit 5 | Protein Coding | 1 |
| 77 | RFC2 | Replication Factor C Subunit 2 | Protein Coding | 1 |
| 78 | VPS37C | VPS37C Subunit Of ESCRT-I | Protein Coding | 1 |
| 79 | VPS28 | VPS28 Subunit Of ESCRT-I | Protein Coding | 1 |
| 80 | HOXC8 | Homeobox C8 | Protein Coding | 1 |
| 81 | GRB2 | Growth Factor Receptor Bound Protein 2 | Protein Coding | 1 |
| 82 | TBL2 | Transducin Beta Like 2 | Protein Coding | 1 |
| 83 | CLASP1 | Cytoplasmic Linker Associated Protein 1 | Protein Coding | 1 |
| 84 | CLASP2 | Cytoplasmic Linker Associated Protein 2 | Protein Coding | 1 |
Disorders associated with 7q11.23 copy number variation syndrome SuperPath
according to GeneCards Suite gene sharing