10q11.21q11.23 copy number variation syndrome (WP5352)
Homo sapiens
10q11.21q11.23 copy number variation (CNV) syndrome is a rare genetic disorder caused by a deletion or duplication of genetic material on chromosome 10. The exact genetic location chr10:49,390,199-51,058,796 (GRCh37) was taken from Kirov et al. 2014 and literature cited there.
Authors
Julivana , Friederike Ehrhart , Egon Willighagen , Alex Pico , and Eric WeitzActivity
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Cited In
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Organisms
Homo sapiensCommunities
Diseases Rare DiseasesAnnotations
Pathway Ontology
disease pathwayLabel | Type | Compact URI | Comment |
---|---|---|---|
Acetylcholine | Metabolite | chebi:15355 | |
Phosphatidylinositol 3,4-bisphosphate | Metabolite | pubchem.compound:643960 | |
CoA | Metabolite | chebi:57287 | |
Acetyl CoA | Metabolite | hmdb:HMDB0247926 | |
CO2 | Metabolite | chebi:16526 | |
Choline | Metabolite | chebi:15354 | |
Serotonin | Metabolite | chebi:350546 | |
H+ | Metabolite | chebi:15378 | |
(R)-N6-(S8-succinyldihydrolipoyl)-L-lysine residue | Metabolite | chebi:83120 | |
2-oxoglutarate | Metabolite | chebi:16810 | |
(R)-N6-lipoyl-L-lysine residue | Metabolite | chebi:83099 | |
H2O | Metabolite | chebi:15377 | |
ADP-D-ribose | Metabolite | chebi:57967 | |
poly[(1''→2')-ADP-α-D-ribose] | Metabolite | chebi:142512 | |
poly[(1''→2')-ADP-α-D-ribose] | Metabolite | chebi:16923 | |
MIR4294 | GeneProduct | ensembl:ENSG00000264800 | |
UVSSA | GeneProduct | ensembl:ENSG00000163945 | KIAA1530 |
FAM170B | GeneProduct | ensembl:ENSG00000172538 | |
ITCH | GeneProduct | ensembl:ENSG00000078747 | |
SIRT1 | GeneProduct | ensembl:ENSG00000096717 | |
NOG | GeneProduct | ensembl:ENSG00000183691 | |
HSF1 | GeneProduct | ensembl:ENSG00000185122 | |
MEN1 | GeneProduct | ensembl:ENSG00000133895 | |
BCL2 | GeneProduct | ensembl:ENSG00000171791 | |
SMAD1 | GeneProduct | ensembl:ENSG00000170365 | |
SMARCA5 | GeneProduct | ensembl:ENSG00000153147 | |
LRRC18 | GeneProduct | ensembl:ENSG00000165383 | |
MYO1C | GeneProduct | ensembl:ENSG00000197879 | |
MAPK8 | GeneProduct | ensembl:ENSG00000107643 | JNK1 |
BAZ1B | GeneProduct | ensembl:ENSG00000009954 | |
RGMB | GeneProduct | ensembl:ENSG00000174136 | |
KDM4D | GeneProduct | ensembl:ENSG00000186280 | |
RIF1 | GeneProduct | ensembl:ENSG00000080345 | |
GDF5 | GeneProduct | ensembl:ENSG00000125965 | |
NEO1 | GeneProduct | ensembl:ENSG00000067141 | |
MYBBP1A | GeneProduct | ensembl:ENSG00000132382 | |
BMPR1A | GeneProduct | ensembl:ENSG00000107779 | |
PCNA | GeneProduct | ensembl:ENSG00000132646 | |
SF3B1 | GeneProduct | ensembl:ENSG00000115524 | |
EIF4ENIF1 | GeneProduct | ensembl:ENSG00000184708 | |
ARHGAP22 | GeneProduct | ensembl:ENSG00000128805 | |
SMARCC2 | GeneProduct | ensembl:ENSG00000139613 | |
DDX21 | GeneProduct | ensembl:ENSG00000165732 | |
C10orf53 | GeneProduct | ensembl:ENSG00000178645 | |
WDFY4 | GeneProduct | ensembl:ENSG00000128815 | |
OGDHL | GeneProduct | ensembl:ENSG00000197444 | |
CLOCK | GeneProduct | ensembl:ENSG00000134852 | |
NLRP3 | GeneProduct | ensembl:ENSG00000162711 | |
PARG | GeneProduct | ensembl:ENSG00000227345 | |
C10orf128 | GeneProduct | ensembl:ENSG00000204161 | TMEM273 |
ERCC5 | GeneProduct | ensembl:ENSG00000134899 | |
C10orf71 | GeneProduct | ensembl:ENSG00000177354 | CEFIP |
ARNTL | GeneProduct | ensembl:ENSG00000133794 | |
DEK | GeneProduct | ensembl:ENSG00000124795 | |
ERCC6 | GeneProduct | ensembl:ENSG00000225830 | |
SMAD5 | GeneProduct | ensembl:ENSG00000113658 | |
ELOA | GeneProduct | ensembl:ENSG00000011007 | |
ERCC8 | GeneProduct | ensembl:ENSG00000049167 | |
JUND | GeneProduct | ensembl:ENSG00000130522 | |
DLST | GeneProduct | ensembl:ENSG00000119689 | |
CHAT | GeneProduct | ensembl:ENSG00000070748 | |
SLC18A3 | GeneProduct | ensembl:ENSG00000187714 | |
SIRT6 | GeneProduct | ensembl:ENSG00000077463 | |
CDH1 | GeneProduct | ensembl:ENSG00000039068 | |
CUL5 | GeneProduct | ensembl:ENSG00000166266 | |
VSTM4 | GeneProduct | ensembl:ENSG00000165633 | |
HSF4 | GeneProduct | ensembl:ENSG00000102878 | |
FRMPD2 | GeneProduct | ensembl:ENSG00000170324 | |
BMP2 | GeneProduct | ensembl:ENSG00000125845 | |
BMPR1B | GeneProduct | ensembl:ENSG00000138696 | |
DRGX | GeneProduct | ensembl:ENSG00000165606 | |
SMAD9 | GeneProduct | ensembl:ENSG00000120693 | |
SMARCB1 | GeneProduct | ensembl:ENSG00000099956 | |
ELK1 | GeneProduct | ensembl:ENSG00000126767 | |
ATF2 | GeneProduct | ensembl:ENSG00000115966 | |
DLD | GeneProduct | ensembl:ENSG00000091140 |
References
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