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 Weitz

Activity

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Organisms

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Disease Ontology

chromosomal deletion syndrome congenital diaphragmatic hernia chromosomal duplication syndrome

Pathway Ontology

disease pathway

Participants

Label 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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