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 , and Alex Pico

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Disease Ontology

chromosomal duplication syndrome chromosomal deletion 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
H+ Metabolite chebi:15378
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
H+ Metabolite chebi:15378
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
TERF1 GeneProduct ensembl:ENSG00000147601
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
FCGR2A GeneProduct ensembl:ENSG00000143226
FCGR2B GeneProduct ensembl:ENSG00000072694
FCGR2C GeneProduct ensembl:ENSG00000244682
CGAS GeneProduct ensembl:ENSG00000164430

References

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