22q11.2 copy number variation syndrome (WP4657)
Homo sapiens
22q11 deletion syndrome
Authors
Friederike Ehrhart , Victor Avramov , Egon Willighagen , Lauren J. Dupuis , and Magda M. LatorreCited In
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Organism
Homo sapiensCommunities
Rare DiseasesAnnotations
Pathway Ontology: disease pathway neurological disorder pathway
Disease Ontology: velocardiofacial syndrome
Participants
Label | Type | Compact Identifier | Comment |
---|---|---|---|
Heparin | Metabolite | pubchem.compound:22833565 | |
ornithine | Metabolite | hmdb:HMDB0000214 | |
1-phosphatidyl-1D-myo-inositol(1−) | Metabolite | chebi:57880 | |
1-phosphatidyl-1D-myo-inositol 4-phosphate(3−) | Metabolite | chebi:58178 | |
arginine | Metabolite | chebi:29016 | |
ATP(4−) | Metabolite | chebi:30616 | |
Dermatan sulfate | Metabolite | chembl.compound:CHEMBL1909290 | |
lysine | Metabolite | chebi:25094 | |
ADP(3−) | Metabolite | chebi:456216 | |
ATP | Metabolite | chebi:15422 | |
2-oxoglutaric acid | Metabolite | chebi:30915 | |
citrate | Metabolite | chebi:133748 | mitochondrial matrix citrate |
L-Glutamic gamma-semialdehyde | Metabolite | hmdb:HMDB0002104 | |
proline | Metabolite | chebi:26271 | |
Ornithine | Metabolite | chebi:16176 | |
glutamine | Metabolite | chebi:28300 | |
glutamate | Metabolite | chebi:14321 | |
riluzole | Metabolite | chebi:8863 | |
1-pyrroline-5-carboxylate | Metabolite | chebi:15893 | |
retinal | Metabolite | chebi:15035 | |
Normetanephrine | Metabolite | chebi:89951 | |
Homovanillic acid | Metabolite | chebi:545959 | |
Retinoic acid | Metabolite | chebi:6067 | |
4-oxo-Retinoic acid | Metabolite | hmdb:HMDB0006285 | |
Norepinephrine | Metabolite | chebi:18357 | |
Dopamine | Metabolite | chebi:18243 | |
DL-Metanephrine | Metabolite | chebi:89633 | |
Epinephrine | Metabolite | chebi:33568 | |
Retinoic acid | Metabolite | chebi:6067 | |
4-hydroxyretinoic acid | Metabolite | chebi:63795 | |
DOPAC | Metabolite | chebi:41941 | |
3-Methoxytyramine | Metabolite | chebi:1582 | |
citrate | Metabolite | chebi:133748 | Cytplasm citrate |
Dopamine | Metabolite | chebi:18243 | |
ornithine | Metabolite | hmdb:HMDB0000214 | |
arginine | Metabolite | chebi:29016 | |
lysine | Metabolite | chebi:25094 | |
FAM230E | GeneProduct | ensembl:ENSG00000182824 | |
DGCR10 | GeneProduct | ensembl:ENSG00000273164 | |
CA15P1 | GeneProduct | ensembl:ENSG00000241527 | |
DGCR11 | GeneProduct | ensembl:ENSG00000273311 | |
TSSK1A | GeneProduct | ensembl:ENSG00000231086 | |
BCRP2 | GeneProduct | ensembl:ENSG00000169668 | |
POM121L7P | GeneProduct | ensembl:ENSG00000239511 | |
ABHD17AP4 | GeneProduct | ensembl:ENSG00000229107 | |
TP53 | GeneProduct | ensembl:ENSG00000141510 | |
MAG | GeneProduct | ensembl:ENSG00000105695 | p75 |
RANGAP1 | GeneProduct | ensembl:ENSG00000100401 | |
PLK1 | GeneProduct | ensembl:ENSG00000166851 | |
KRT18P62 | GeneProduct | ensembl:ENSG00000233471 | |
PRKN | GeneProduct | ensembl:ENSG00000185345 | |
BCL2 | GeneProduct | ensembl:ENSG00000171791 | |
LINC01311 | GeneProduct | ensembl:ENSG00000260924 | |
RBX1 | GeneProduct | ensembl:ENSG00000100387 | |
XPO1 | GeneProduct | ensembl:ENSG00000082898 | |
RNY1P9 | GeneProduct | ensembl:ENSG00000255156 | |
POLR2A | GeneProduct | ensembl:ENSG00000181222 | |
P2RX6P | GeneProduct | ensembl:ENSG00000206145 | |
Syntaxin | GeneProduct | pfam:PF00804 | |
RN7SL168P | GeneProduct | ensembl:ENSG00000244296 | |
PAK4 | GeneProduct | ensembl:ENSG00000130669 | |
KRT18P5 | GeneProduct | ensembl:ENSG00000236670 | |
CLDN1 | GeneProduct | ensembl:ENSG00000163347 | |
NCOR1 | GeneProduct | ensembl:ENSG00000141027 | |
RORC | GeneProduct | ensembl:ENSG00000143365 | |
NPRL3 | GeneProduct | ensembl:ENSG00000103148 | |
CLDN3 | GeneProduct | ensembl:ENSG00000165215 | |
CUL3 | GeneProduct | ensembl:ENSG00000036257 | |
DGCR9 | GeneProduct | ensembl:ENSG00000273032 | |
RNU6-225P | GeneProduct | ensembl:ENSG00000207343 | |
RCC1 | GeneProduct | ensembl:ENSG00000180198 | |
POM121L4P | GeneProduct | ensembl:ENSG00000217261 | |
LINC01637 | GeneProduct | ensembl:ENSG00000237476 | |
SMPD4P1 | GeneProduct | ensembl:ENSG00000223553 | |
SREBF1 | GeneProduct | ensembl:ENSG00000072310 | |
TNPO1 | GeneProduct | ensembl:ENSG00000083312 | |
RTN4 | GeneProduct | ensembl:ENSG00000115310 | |
HDAC3 | GeneProduct | ensembl:ENSG00000171720 | |
DEPDC5 | GeneProduct | ensembl:ENSG00000100150 | |
SLC9A3P2 | GeneProduct | ensembl:ENSG00000238125 | |
ARNTL | GeneProduct | ensembl:ENSG00000133794 | |
FAM230G | GeneProduct | ensembl:ENSG00000188280 | |
TUBA3GP | GeneProduct | ensembl:ENSG00000249680 | |
LINC00895 | GeneProduct | ensembl:ENSG00000281548 | |
BCRP5 | GeneProduct | ensembl:ENSG00000235062 | |
RELN | GeneProduct | ensembl:ENSG00000189056 | |
IGLL4P | GeneProduct | ensembl:ENSG00000276427 | |
RAN | GeneProduct | ensembl:ENSG00000132341 | |
SREBF2 | GeneProduct | ensembl:ENSG00000198911 | |
SNORA77B | GeneProduct | ensembl:ENSG00000264346 | |
SEPTIN8 | GeneProduct | ensembl:ENSG00000164402 | KIAA0202 |
TUBA3FP | GeneProduct | ensembl:ENSG00000161149 | |
HIST1H4A | GeneProduct | ensembl:ENSG00000278637 | |
RN7SL812P | GeneProduct | ensembl:ENSG00000242876 | |
MALT1 | GeneProduct | ensembl:ENSG00000172175 | |
TMEM191A | GeneProduct | ensembl:ENSG00000226287 | |
C22orf39 | GeneProduct | ensembl:ENSG00000242259 | |
CCDC74BP1 | GeneProduct | ensembl:ENSG00000250261 | |
NPRL2 | GeneProduct | ensembl:ENSG00000114388 | |
CDH15 | GeneProduct | ensembl:ENSG00000129910 | |
SEPTIN11 | GeneProduct | ensembl:ENSG00000138758 | |
VWF | GeneProduct | ensembl:ENSG00000110799 | |
GP1BB | GeneProduct | ensembl:ENSG00000203618 | |
GP1BA | GeneProduct | ensembl:ENSG00000185245 | |
DRD2 | GeneProduct | ensembl:ENSG00000149295 | |
GP5 | GeneProduct | ensembl:ENSG00000178732 | |
GP9 | GeneProduct | ensembl:ENSG00000169704 | |
SERPIND1 | GeneProduct | ensembl:ENSG00000099937 | |
GLUD1 | GeneProduct | ensembl:ENSG00000148672 | |
CCDC188 | GeneProduct | ensembl:ENSG00000234409 | |
ARVCF | GeneProduct | ensembl:ENSG00000099889 | |
RAF1 | GeneProduct | ensembl:ENSG00000132155 | |
MED15 | GeneProduct | ensembl:ENSG00000099917 | |
ALDH4A1 | GeneProduct | ensembl:ENSG00000159423 | |
KLHL22 | GeneProduct | ensembl:ENSG00000099910 | |
LZTR1 | GeneProduct | ensembl:ENSG00000099949 | |
UFD1 | GeneProduct | ensembl:ENSG00000070010 | |
THAP7 | GeneProduct | ensembl:ENSG00000184436 | |
SLC7A4 | GeneProduct | ensembl:ENSG00000099960 | |
DGCR6L | GeneProduct | ensembl:ENSG00000128185 | |
LRRC74B | GeneProduct | ensembl:ENSG00000187905 | |
OAT | GeneProduct | ensembl:ENSG00000065154 | |
TSSK2 | GeneProduct | ensembl:ENSG00000206203 | |
RAF1 | GeneProduct | ensembl:ENSG00000132155 | |
HIRIP3 | GeneProduct | ensembl:ENSG00000149929 | |
HAND2 | GeneProduct | ensembl:ENSG00000164107 | |
SHOC2 | GeneProduct | ensembl:ENSG00000108061 | |
RTN4R | GeneProduct | ensembl:ENSG00000040608 | also known as Nogo-66 Receptor (NgR) or Nogo receptor 1 |
CDC45 | GeneProduct | ensembl:ENSG00000093009 | |
SLC2A4 | GeneProduct | ensembl:ENSG00000181856 | |
SEPTIN5 | GeneProduct | ensembl:ENSG00000184702 | CDCrel-1 |
TANGO2 | GeneProduct | ensembl:ENSG00000183597 | |
DGCR2 | GeneProduct | ensembl:ENSG00000070413 | |
LINC00896 | GeneProduct | ensembl:ENSG00000236499 | |
GSC2 | GeneProduct | ensembl:ENSG00000063515 | DNA sequence-specific recognition of sites bound by the Drosophila anterior morphogen, Bicoid |
CLDN5 | GeneProduct | ensembl:ENSG00000184113 | |
GNB1L | GeneProduct | ensembl:ENSG00000185838 | |
AIFM3 | GeneProduct | ensembl:ENSG00000183773 | |
TXNRD2 | GeneProduct | ensembl:ENSG00000184470 | |
RANBP1 | GeneProduct | ensembl:ENSG00000099901 | |
RTL10 | GeneProduct | ensembl:ENSG00000215012 | BH3-only, Bop |
ZNF74 | GeneProduct | ensembl:ENSG00000185252 | |
PPP1CB | GeneProduct | ensembl:ENSG00000213639 | |
P2RX6 | GeneProduct | ensembl:ENSG00000099957 | |
ESS2 | GeneProduct | ensembl:ENSG00000100056 | DGCR14 |
CBX5 | GeneProduct | ensembl:ENSG00000094916 | |
TRMT2A | GeneProduct | ensembl:ENSG00000099899 | |
PI4KA | GeneProduct | ensembl:ENSG00000241973 | |
ASF1A | GeneProduct | ensembl:ENSG00000111875 | |
MRPL40 | GeneProduct | ensembl:ENSG00000185608 | |
USP41 | GeneProduct | ensembl:ENSG00000161133 | |
CLTCL1 | GeneProduct | ensembl:ENSG00000070371 | |
HIRA | GeneProduct | ensembl:ENSG00000100084 | |
PAX3 | GeneProduct | ensembl:ENSG00000135903 | |
TSKS | GeneProduct | ensembl:ENSG00000126467 | |
FGF10 | GeneProduct | ensembl:ENSG00000070193 | |
SLC25A1 | GeneProduct | ensembl:ENSG00000100075 | Altered mitochondrial metabolismCausative gene for Combined D-2- and L-2-hydroxyglutaric aciduria |
CRKL | GeneProduct | ensembl:ENSG00000099942 | In epistasis with TBX1 |
SCARF2 | GeneProduct | ensembl:ENSG00000244486 | |
EMC10 | GeneProduct | ensembl:ENSG00000161671 | |
SRF | GeneProduct | ensembl:ENSG00000112658 | |
DROSHA | GeneProduct | ensembl:ENSG00000113360 | |
FOXA2 | GeneProduct | ensembl:ENSG00000125798 | |
PRODH | GeneProduct | ensembl:ENSG00000100033 | |
FGF8 | GeneProduct | ensembl:ENSG00000107831 | |
CYP26B1 | GeneProduct | ensembl:ENSG00000003137 | |
COMT | GeneProduct | ensembl:ENSG00000093010 | |
CHRD | GeneProduct | ensembl:ENSG00000090539 | |
FOXC1 | GeneProduct | ensembl:ENSG00000054598 | |
CRKL | GeneProduct | ensembl:ENSG00000099942 | |
SHH | GeneProduct | ensembl:ENSG00000164690 | |
CYP26A1 | GeneProduct | ensembl:ENSG00000095596 | |
PITX2 | GeneProduct | ensembl:ENSG00000164093 | |
ZDHHC8 | GeneProduct | ensembl:ENSG00000099904 | |
FGF8 | GeneProduct | ensembl:ENSG00000107831 | |
FGFR2 | GeneProduct | ensembl:ENSG00000066468 | |
DGCR8 | GeneProduct | ensembl:ENSG00000128191 | |
TBX1 | GeneProduct | ensembl:ENSG00000184058 | |
CYP26C1 | GeneProduct | ensembl:ENSG00000187553 | |
FOXC2 | GeneProduct | ensembl:ENSG00000176692 | |
FGFR1 | GeneProduct | ensembl:ENSG00000077782 | |
NKX2-5 | GeneProduct | ensembl:ENSG00000183072 | |
ALDH1A2 | GeneProduct | ensembl:ENSG00000128918 | |
SNAP29 | GeneProduct | ensembl:ENSG00000099940 | |
FGFR2 | GeneProduct | ensembl:ENSG00000066468 | |
FGFR1 | GeneProduct | ensembl:ENSG00000077782 | |
CDC42 | GeneProduct | ensembl:ENSG00000070831 | ONLY isoform 2, which is brain-specific; CDC42PALM |
DGCR8 | GeneProduct | ensembl:ENSG00000128191 | |
HES1 | GeneProduct | ensembl:ENSG00000114315 | |
HES1 | GeneProduct | ensembl:ENSG00000114315 | |
GBX2 | GeneProduct | ensembl:ENSG00000168505 | |
GP1BB | GeneProduct | ensembl:ENSG00000203618 | Involved in Macrothrombocytopenia developmentResponsible for Bernard-Soulier syndrome |
RAF1 | GeneProduct | ensembl:ENSG00000132155 | |
ACTA2 | GeneProduct | ensembl:ENSG00000107796 | |
ACTC1 | GeneProduct | ensembl:ENSG00000159251 | |
FOXA2 | GeneProduct | ensembl:ENSG00000125798 | |
FOXC1 | GeneProduct | ensembl:ENSG00000054598 | |
FOXC2 | GeneProduct | ensembl:ENSG00000176692 | |
TBX1 | GeneProduct | ensembl:ENSG00000184058 | |
DGCR5 | GeneProduct | ensembl:ENSG00000237517 | |
EGFR | GeneProduct | ensembl:ENSG00000146648 | |
TSKS | GeneProduct | ensembl:ENSG00000126467 | |
BCRP7 | GeneProduct | ensembl:ENSG00000215544 | |
SEPTIN5 | GeneProduct | ensembl:ENSG00000184702 | CDCrel-1 |
SEPTIN5 | GeneProduct | ensembl:ENSG00000184702 | CDCrel-1 |
RANBP1 | GeneProduct | ensembl:ENSG00000099901 | |
KPNB1 | GeneProduct | ensembl:ENSG00000108424 | |
POLR2A | GeneProduct | ensembl:ENSG00000181222 | |
KLHL22 | GeneProduct | ensembl:ENSG00000099910 | |
PLK1 | GeneProduct | ensembl:ENSG00000166851 | |
DEPDC5 | GeneProduct | ensembl:ENSG00000100150 | |
DEPDC5 | GeneProduct | ensembl:ENSG00000100150 | |
RORC | Protein | uniprot:P51449 | |
P2RX6 | Protein | uniprot:O15547 |
References
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