10q22q23 copy number variation (WP5402)

Homo sapiens

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10q22q23 copy number variation syndrome is a rare genetic syndrome caused by a deletion or duplication in the region 10q22q23 of chromosome 10. The exact position (chr10:82,045,472-88,931,651, GRCh37) was taken from Kirov et al. 2014 and literature cited there. Patients usually suffer from developmental delay and psychiatric disorders as well as facial dyspmorphisms, and cardiac abnormalities.

Authors

Friederike Ehrhart , Pierre Klemmer , Eric Weitz , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

chromosomal deletion syndrome chromosomal duplication syndrome

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
K+ Metabolite chebi:29103
Ca2+ Metabolite chebi:29108
L-glutamate Metabolite chebi:29985
H+ Metabolite chebi:15378
ATP Metabolite chebi:30616
H2O Metabolite chebi:15377
L-methionine Metabolite chebi:57844
11-cis-Retinaldehyde Metabolite hmdb:HMDB0002152 11-cis-retinal
2-oxoglutarate Metabolite chebi:16810
Retinal Metabolite hmdb:HMDB0001358 all-trans-retinal
Mg2+ Metabolite chebi:18420
Diphosphate Metabolite chebi:33019
Phosphate Metabolite chebi:43474
S-adenosyl-L-methionine Metabolite chebi:59789
LINC00858 GeneProduct ensembl:ENSG00000229404
MIR346 GeneProduct ensembl:ENSG00000199104
RSPH1 GeneProduct ensembl:ENSG00000160188
RSPH3 GeneProduct ensembl:ENSG00000130363
RSPH9 GeneProduct ensembl:ENSG00000172426
RSPH4A GeneProduct ensembl:ENSG00000111834
RSPH6A GeneProduct ensembl:ENSG00000104941
RSPH14 GeneProduct ensembl:ENSG00000100218
DNAJB13 GeneProduct ensembl:ENSG00000187726
ROPN1L GeneProduct ensembl:ENSG00000145491
NME5 GeneProduct ensembl:ENSG00000112981
IQUB GeneProduct ensembl:ENSG00000164675
DYDC1 GeneProduct ensembl:ENSG00000170788
SHLD3 GeneProduct ensembl:ENSG00000253251
MMRN2 GeneProduct ensembl:ENSG00000173269
PDS5A GeneProduct ensembl:ENSG00000121892
CCSER2 GeneProduct ensembl:ENSG00000107771
SH2D4B GeneProduct ensembl:ENSG00000178217
ACTN2 GeneProduct ensembl:ENSG00000077522
CEBPA GeneProduct ensembl:ENSG00000245848
SNCG GeneProduct ensembl:ENSG00000173267
BUB1B GeneProduct ensembl:ENSG00000156970
SUSD2 GeneProduct ensembl:ENSG00000099994
C10orf99 GeneProduct ensembl:ENSG00000188373
SMC3 GeneProduct ensembl:ENSG00000108055
SHLD1 GeneProduct ensembl:ENSG00000171984
MAS1 GeneProduct ensembl:ENSG00000130368
BMPR1A GeneProduct ensembl:ENSG00000107779 CD292
STAG1 GeneProduct ensembl:ENSG00000118007
GHITM GeneProduct ensembl:ENSG00000165678
TSPAN14 GeneProduct ensembl:ENSG00000108219
GLUD1 GeneProduct ensembl:ENSG00000148672
RAD21 GeneProduct ensembl:ENSG00000164754
MAT1A GeneProduct ensembl:ENSG00000151224
DYDC2 GeneProduct ensembl:ENSG00000133665
ERBB4 GeneProduct ensembl:ENSG00000178568
LRIT1 GeneProduct ensembl:ENSG00000148602
PRXL2A GeneProduct ensembl:ENSG00000122378 FAM213A
SMC1A GeneProduct ensembl:ENSG00000072501
NRG3 GeneProduct ensembl:ENSG00000185737
MAD2L2 GeneProduct ensembl:ENSG00000116670
OPN4 GeneProduct ensembl:ENSG00000122375
SIRT4 GeneProduct ensembl:ENSG00000089163
ZMYND11 GeneProduct ensembl:ENSG00000015171
LDB3 GeneProduct ensembl:ENSG00000122367
WAPAL GeneProduct ensembl:ENSG00000062650
SHLD2 GeneProduct ensembl:ENSG00000122376 FAM35A
BMP2 GeneProduct ensembl:ENSG00000125845
VEGFA GeneProduct ensembl:ENSG00000112715
ADIRF GeneProduct ensembl:ENSG00000148671
SF3B4 GeneProduct ensembl:ENSG00000143368
AFG3L2 GeneProduct ensembl:ENSG00000141385
PPARG GeneProduct ensembl:ENSG00000132170
SH3GL3 GeneProduct ensembl:ENSG00000140600 SH3P13
GRID1 GeneProduct ensembl:ENSG00000182771
GPR15 GeneProduct ensembl:ENSG00000154165
ADAM10 GeneProduct ensembl:ENSG00000137845
FAM25A GeneProduct ensembl:ENSG00000188100
RGR GeneProduct ensembl:ENSG00000148604
TNFSF11 GeneProduct ensembl:ENSG00000120659
LRIT2 GeneProduct ensembl:ENSG00000204033
NFKB1 GeneProduct ensembl:ENSG00000109320
PDS5B GeneProduct ensembl:ENSG00000083642
CDHR1 GeneProduct ensembl:ENSG00000148600

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