11p11.2 copy number variation syndrome (WP5348)

Homo sapiens

11p11.2 copy number variation syndrome (homo sapiens)

Authors

Esther Umwamikazi , Friederike Ehrhart , Ash Iyer , and Egon Willighagen

Activity

last edited

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Organisms

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Pathway Ontology

disease pathway

Participants

Label Type Compact Identifier Comment
adenosine 3',5'-bisphosphate Metabolite pubchem.compound:159296
keratan 6'-sulfate Metabolite chebi:18331
Keratan Metabolite pubchem.compound:446715
3'-phospho-5'-adenylyl sulfate Metabolite drugbank:DB02902
GDP-β-L-fucose (in) Metabolite chebi:57273
GMP (out) Metabolite chebi:58115
GDP-β-L-fucose (out) Metabolite chebi:57273
GMP (in) Metabolite chebi:58115
ITGB2 GeneProduct ensembl:ENSG00000160255
RPS29 GeneProduct ensembl:ENSG00000213741
TNIP2 GeneProduct ensembl:ENSG00000168884
TSPAN8 GeneProduct ensembl:ENSG00000127324
USP30 GeneProduct ensembl:ENSG00000135093
INVS GeneProduct ensembl:ENSG00000119509
HLA-DMB GeneProduct ensembl:ENSG00000242574
LONRF3 GeneProduct ensembl:ENSG00000175556
CNTF None GeneProduct
ACCSL GeneProduct ensembl:ENSG00000205126
FHL2 GeneProduct ensembl:ENSG00000115641
PRDM11 GeneProduct ensembl:ENSG00000019485
GSKIP GeneProduct ensembl:ENSG00000100744
RBPJ GeneProduct ensembl:ENSG00000168214
ITGA6 GeneProduct ensembl:ENSG00000091409
CDKN1A GeneProduct ensembl:ENSG00000124762
TIMP1 GeneProduct ensembl:ENSG00000102265
KXD1 GeneProduct ensembl:ENSG00000105700
CD9 GeneProduct ensembl:ENSG00000010278
FOXE1 GeneProduct ensembl:ENSG00000178919
IFNA6 GeneProduct ensembl:ENSG00000120235
DDX39A GeneProduct ensembl:ENSG00000123136
SMN1 GeneProduct ensembl:ENSG00000172062
HLA-DRA GeneProduct ensembl:ENSG00000204287
HLA-DPB1 GeneProduct ensembl:28514442
GNB1 GeneProduct ensembl:ENSG00000078369
GATA4 GeneProduct ensembl:ENSG00000136574
ADAM10 GeneProduct ensembl:ENSG00000137845
HLA-DMA GeneProduct ensembl:ENSG00000204257
HOXB6 GeneProduct ensembl:ENSG00000108511
NUP88 GeneProduct ensembl:ENSG00000108559
RBCK1 GeneProduct ensembl:ENSG00000125826
BDKRB2 GeneProduct ensembl:ENSG00000168398
PARVG GeneProduct ensembl:ENSG00000138964
IQUB GeneProduct ensembl:ENSG00000164675
FABP4 GeneProduct ensembl:ENSG00000170323
RNF4 GeneProduct ensembl:ENSG00000063978
RPS27 GeneProduct ensembl:ENSG00000177954
ESR2 GeneProduct ensembl:ENSG00000140009
ANXA7 GeneProduct ensembl:ENSG00000138279
STK16 GeneProduct ensembl:ENSG00000115661
SLC35C1 GeneProduct ensembl:ENSG00000181830
HYOU1 GeneProduct ensembl:ENSG00000149428
CD4 GeneProduct ensembl:ENSG00000010610
CHST1 GeneProduct ensembl:ENSG00000175264
UQCRB GeneProduct ensembl:ENSG00000156467
ESR1 GeneProduct ensembl:ENSG00000091831
NIPAL1 GeneProduct ensembl:ENSG00000163293
EXT1 GeneProduct ensembl:ENSG00000182197
ALX1 GeneProduct ensembl:ENSG00000180318
VIRMA GeneProduct ensembl:ENSG00000164944
HNF4A GeneProduct ensembl:ENSG00000101076
MANSC1 GeneProduct ensembl:ENSG00000111261
ZNF331 GeneProduct ensembl:ENSG00000130844
TTC19 GeneProduct ensembl:ENSG00000011295
CRB1 GeneProduct ensembl:ENSG00000134376
HBEGF GeneProduct ensembl:ENSG00000113070
FBF1 GeneProduct ensembl:ENSG00000188878
ACP1 GeneProduct ensembl:ENSG00000143727
SYT13 GeneProduct ensembl:ENSG00000019505
ADGRA1 GeneProduct ensembl:ENSG00000197177
CD53 GeneProduct ensembl:ENSG00000143119
FFAR2 GeneProduct ensembl:ENSG00000126262
TK1 GeneProduct ensembl:ENSG00000167900
GFT2H4 GeneProduct ensembl:ENSG00000213780
OBSL1 GeneProduct ensembl:ENSG00000124006
FITM2 GeneProduct ensembl:ENSG00000197296
TNIP1 GeneProduct ensembl:ENSG00000145901
CUX1 GeneProduct ensembl:ENSG00000257923
MAOA GeneProduct ensembl:ENSG00000189221
BIRC2 GeneProduct ensembl:ENSG00000110330
NEK9 GeneProduct ensembl:ENSG00000119638
CRY2 GeneProduct ensembl:ENSG00000121671
GTF2H3 GeneProduct ensembl:ENSG00000111358
GRM2 GeneProduct ensembl:ENSG00000164082
ERCC3 GeneProduct ensembl:ENSG00000163161
HNRNPL GeneProduct ensembl:ENSG00000104824
CD151 GeneProduct ensembl:ENSG00000177697
CD19 GeneProduct ensembl:ENSG00000177455
ITGA4 GeneProduct ensembl:ENSG00000115232
TP53I11 GeneProduct ensembl:ENSG00000175274
VANGL1 GeneProduct ensembl:ENSG00000173218
GTF2H2C GeneProduct ensembl:ENSG00000183474
TMCO5A GeneProduct ensembl:ENSG00000166069
C11orf96 GeneProduct ensembl:ENSG00000187479
MARCH4 GeneProduct ensembl:ENSG00000144583
TCTN3 GeneProduct ensembl:ENSG00000119977
MAPK8IP1 GeneProduct ensembl:ENSG00000121653
FOXA1 GeneProduct ensembl:ENSG00000129514
TCTN2 GeneProduct ensembl:ENSG00000168778
GIMAP5 GeneProduct ensembl:ENSG00000196329
MHC-I GeneProduct ensembl:ENSG00000204520
RAB11A GeneProduct ensembl:ENSG00000103769
HOXA3 GeneProduct ensembl:ENSG00000105997
SOX2 GeneProduct ensembl:ENSG00000181449
LGALS3BP GeneProduct ensembl:ENSG00000108679
CD82 GeneProduct ensembl:ENSG00000085117
TMEM218 GeneProduct ensembl:ENSG00000150433
CD151 GeneProduct ensembl:ENSG00000177697
ACCS GeneProduct ensembl:ENSG00000110455
CD4 GeneProduct ensembl:ENSG00000010610
ACBD5 GeneProduct ensembl:ENSG00000107897
RBFA GeneProduct ensembl:ENSG00000101546
ATXN1 GeneProduct ensembl:ENSG00000124788
CCL1 GeneProduct ensembl:ENSG00000108702
HOXD3 GeneProduct ensembl:ENSG00000128652
OLFM4 GeneProduct ensembl:ENSG00000102837
CREB3 GeneProduct ensembl:ENSG00000107175
SMIM3 GeneProduct ensembl:ENSG00000256235
MS4A1 GeneProduct ensembl:ENSG00000156738
TSPAN18 GeneProduct ensembl:ENSG00000157570
HOXB13 GeneProduct ensembl:ENSG00000159184
RNF31 GeneProduct ensembl:ENSG00000092098
EXT2 GeneProduct ensembl:ENSG00000151348
ATE1 GeneProduct ensembl:ENSG00000107669
PHF21A GeneProduct ensembl:ENSG00000135365
NOP9 GeneProduct ensembl:ENSG00000196943
TMEM120A GeneProduct ensembl:ENSG00000189077
CXCL8 GeneProduct ensembl:ENSG00000169429
PFDN1 GeneProduct ensembl:ENSG00000113068
CHCHD2P9 GeneProduct ensembl:ENSG00000186940
ITGB1 GeneProduct ensembl:ENSG00000150093
TP53 GeneProduct ensembl:ENSG00000141510
ITGA3 GeneProduct ensembl:ENSG00000005884
SNCG GeneProduct ensembl:ENSG00000173267
SLC22A2 GeneProduct ensembl:ENSG00000112499
RIGI GeneProduct ensembl:ENSG00000107201
FOXA3 GeneProduct ensembl:ENSG00000170608
EMX1 GeneProduct ensembl:ENSG00000135638
CXCL9 GeneProduct ensembl:ENSG00000138755
YIPF3 GeneProduct ensembl:ENSG00000137207
H4C1 GeneProduct ensembl:ENSG00000278637
PRMT2 GeneProduct ensembl:ENSG00000160310
AFAP1 GeneProduct ensembl:ENSG00000196526
ELOC GeneProduct ensembl:ENSG00000154582
GNPDA1 GeneProduct ensembl:ENSG00000113552
ALX4 GeneProduct ensembl:ENSG00000052850
CHRM5 GeneProduct ensembl:ENSG00000184984
RBCK1 GeneProduct ensembl:ENSG00000125826
CD63 GeneProduct ensembl:ENSG00000135404
IL1RL1 GeneProduct ensembl:ENSG00000115602
C11orf94 GeneProduct ensembl:ENSG00000234776
PEX16 GeneProduct ensembl:ENSG00000121680
LARGE2 GeneProduct ensembl:ENSG00000165905
TMEM117 Protein ensembl:ENSG00000139173
Carbohydrate sulfotransferase 1 Protein uniprot:O43916
CDCA7L Protein ensembl:ENSG00000164649
Synaptotagmin-like protein 3 Protein uniprot:Q4VX76
Neurexin-1 Protein uniprot:Q9ULB1
Ankyrin repeat domain-containing protein 11 Protein uniprot:Q6UB99
Ras-related protein Rab-27B Protein uniprot:O00194
Ras related protein Rab-27A Protein uniprot:P51159
Ras related protein Rab-10 Protein uniprot:P61026
GDP-fucose transporter 1 Protein uniprot:Q96A29
JIP1 Protein uniprot:Q9UQF2
FREY1 Protein uniprot:C9JXX5
Peroxisomal membrane protein PEX16 Protein uniprot:Q9Y5Y5
PMP34 Protein uniprot:O43808
Pex3 Protein uniprot:P56589
Xylosyl- and glucuronyltransferase LARGE2 Protein uniprot:Q8N3Y3
PHD finger protein 21A Protein uniprot:Q96BD5

References

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