8p23.1 copy number variation syndrome (WP5346)
Homo sapiens
Pathways of relevant genes on the chromosome 8p23.1 duplication / deletion syndrome. Patients with a deletion often suffer from diaphragmatic hernia (CDH) and cardiac defects.
Authors
Rens Eikelboom , Egon Willighagen , Friederike Ehrhart , Alex Pico , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Diseases Rare DiseasesAnnotations
Disease Ontology
chromosomal deletion syndrome congenital diaphragmatic hernia chromosomal duplication syndromePathway Ontology
disease pathwayLabel | Type | Compact URI | Comment |
---|---|---|---|
ADP | Metabolite | chebi:456216 | |
[thioredoxin]-disulfide | Metabolite | chebi:50058 | |
L-methionyl-[protein] | Metabolite | chebi:16044 | |
NADPH | Metabolite | chebi:57783 | |
[thioredoxin]-dithiol | Metabolite | chebi:44120 | |
Lipopolysaccharide | Metabolite | hmdb:HMDB0254119 | |
2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA | Metabolite | chebi:167181 | |
L-tyrosyl-[protein] | Metabolite | chebi:46858 | |
H2O | Metabolite | chebi:15377 | |
nicotinamide | Metabolite | chebi:17154 | |
O-phospho-L-tyrosyl-[protein] | Metabolite | chebi:82620 | |
Talazoparib | Metabolite | chembl.compound:3137320 | |
H+ | Metabolite | chebi:15378 | |
Squalene | Metabolite | chebi:15440 | |
Mg2+ | Metabolite | chebi:18420 | |
NAD+ | Metabolite | chebi:15846 | |
ATP | Metabolite | chebi:30616 | |
NADP+ | Metabolite | chebi:58349 | |
Diphosphate | Metabolite | chebi:33019 | |
2 (2E,6E)-farnesyl diphosphate | Metabolite | chebi:175763 | |
3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA | Metabolite | chebi:157695 | |
L-methionyl-(S)-S-oxide-[protein] | Metabolite | chebi:29950 | |
4-O-(ADP-D-ribosyl)-L-aspartyl residue | Metabolite | chebi:138102 | |
RNA | Metabolite | chebi:33697 | |
XAV939 | Metabolite | wikidata:Q27132250 | |
5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA | Metabolite | chebi:136412 | |
L-aspartyl | Metabolite | chebi:29958 | |
TERF1 | GeneProduct | ensembl:ENSG00000147601 | |
CTNNB1 | GeneProduct | ensembl:ENSG00000168036 | |
MFHAS1 | GeneProduct | ensembl:ENSG00000147324 | |
PPP1R3B | GeneProduct | ensembl:ENSG00000173281 | |
CSTA | GeneProduct | ensembl:ENSG00000121552 | |
MTMR6 | GeneProduct | ensembl:ENSG00000139505 | |
MTMR7 | GeneProduct | ensembl:ENSG00000003987 | |
TBX5 | GeneProduct | ensembl:ENSG00000089225 | |
SGPL1 | GeneProduct | ensembl:ENSG00000166224 | |
NKX6-1 | GeneProduct | ensembl:ENSG00000163623 | |
PRSS51 | GeneProduct | ensembl:ENSG00000253649 | |
C8orf49 | GeneProduct | ensembl:ENSG00000255394 | |
GATA4 | GeneProduct | ensembl:ENSG00000136574 | |
HEPACAM2 | GeneProduct | ensembl:ENSG00000188175 | |
FAM167A | GeneProduct | ensembl:ENSG00000154319 | |
MCRS1 | GeneProduct | ensembl:ENSG00000187778 | |
MEPE | GeneProduct | ensembl:ENSG00000152595 | |
C8orf74 | GeneProduct | ensembl:ENSG00000171060 | |
MTMR9 | GeneProduct | ensembl:ENSG00000104643 | |
TLR2 | GeneProduct | ensembl:ENSG00000137462 | |
MTMR8 | GeneProduct | ensembl:ENSG00000102043 | |
TNKS | GeneProduct | ensembl:ENSG00000173273 | |
XKR6 | GeneProduct | ensembl:ENSG00000171044 | |
TLR4 | GeneProduct | ensembl:ENSG00000136869 | |
RP1L1 | GeneProduct | ensembl:ENSG00000183638 | |
BMP1 | GeneProduct | ensembl:ENSG00000168487 | |
CLDN23 | GeneProduct | ensembl:ENSG00000253958 | |
SLC35G5 | GeneProduct | ensembl:ENSG00000177710 | |
BLK | GeneProduct | ensembl:ENSG00000136573 | |
NEIL2 | GeneProduct | ensembl:ENSG00000154328 | |
MSRA | GeneProduct | ensembl:ENSG00000175806 | |
MAPK1 | GeneProduct | ensembl:ENSG00000100030 | |
FDFT1 | GeneProduct | ensembl:ENSG00000079459 | |
SLC2A4 | GeneProduct | ensembl:ENSG00000181856 | |
DEFB136 | GeneProduct | ensembl:ENSG00000205884 | |
FCGR2A | GeneProduct | ensembl:ENSG00000143226 | |
CTSB | GeneProduct | ensembl:ENSG00000164733 | |
NUMA1 | GeneProduct | ensembl:ENSG00000137497 | |
SOX7 | GeneProduct | ensembl:ENSG00000171056 | |
TERT | GeneProduct | ensembl:ENSG00000164362 | |
AP-1 | GeneProduct | interpro:IPR000837 | |
FCGR2B | GeneProduct | ensembl:ENSG00000072694 | |
MAPK3 | GeneProduct | ensembl:ENSG00000102882 | |
ERI1 | GeneProduct | ensembl:ENSG00000104626 | |
C8orf12 | GeneProduct | ensembl:ENSG00000184608 | |
S100A10 | GeneProduct | ensembl:ENSG00000197747 | |
PINX1 | GeneProduct | ensembl:ENSG00000258724 | |
FCGR2C | GeneProduct | ensembl:ENSG00000244682 | |
CTSD | GeneProduct | ensembl:ENSG00000117984 | |
SLBP | GeneProduct | ensembl:ENSG00000163950 | |
RAF1 | GeneProduct | ensembl:ENSG00000132155 | |
AXIN1 | GeneProduct | ensembl:ENSG00000103126 | |
PRSS55 | GeneProduct | ensembl:ENSG00000184647 | |
PDX1 | GeneProduct | ensembl:ENSG00000139515 | |
HSPD1 | GeneProduct | ensembl:ENSG00000144381 | |
CGAS | GeneProduct | ensembl:ENSG00000164430 | |
DEFB135 | GeneProduct | ensembl:ENSG00000205883 | |
DEFB134 | GeneProduct | ensembl:ENSG00000205882 |
References
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