Prader-Willi and Angelman syndrome (WP3998)

Homo sapiens

Prader-Willi syndrome


Kelly Janssen , Martina Summer-Kutmon , Friederike Ehrhart , Susan Coort , Egon Willighagen , Denise Slenter , Alex Pico , Anders Riutta , Kristina Hanspers , Eric Weitz , Finterly Hu , and Lars Willighagen


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Homo sapiens


Diseases Rare Diseases


Disease Ontology

Prader-Willi syndrome Angelman syndrome

Pathway Ontology

disease pathway


Label Type Compact URI Comment
L-dopaquinone Metabolite chebi:16852
L-tyrosine Metabolite chebi:58315
Ca2+ Metabolite chebi:29108
PWRN4 GeneProduct ensembl:ENSG00000260232
PWRN2 GeneProduct ensembl:ENSG00000260551
PWRN3 GeneProduct ensembl:ENSG00000260760
PWRN1 GeneProduct ensembl:ENSG00000259905
TUBGCP2 GeneProduct ensembl:ENSG00000130640
TUBGCP3 GeneProduct ensembl:ENSG00000126216
TUBGCP4 GeneProduct ensembl:ENSG00000137822
TUBGCP5 GeneProduct ensembl:ENSG00000153575
TUBGCP6 GeneProduct ensembl:ENSG00000128159
NUP42 GeneProduct uniprot:O15504
NUP155 GeneProduct uniprot:O75694
TPR GeneProduct uniprot:P12270
NUP214 GeneProduct uniprot:P35658
NUP62 GeneProduct uniprot:P37198
NUP153 GeneProduct uniprot:P49790
RANBP2 GeneProduct uniprot:P49792
NUP98 GeneProduct uniprot:P52948
SEC13 GeneProduct uniprot:P55735
NUP107 GeneProduct uniprot:P57740
RAE1 GeneProduct uniprot:P78406
NUP160 GeneProduct uniprot:Q12769
GLE1 GeneProduct uniprot:Q53GS7
NUP188 GeneProduct uniprot:Q5SRE5
NUP54 GeneProduct uniprot:Q7Z3B4
NUP93 GeneProduct uniprot:Q8N1F7
NUP43 GeneProduct uniprot:Q8NFH3
NUP37 GeneProduct uniprot:Q8NFH4
NUP35 GeneProduct uniprot:Q8NFH5
NUP210 GeneProduct uniprot:Q8TEM1
NUP133 GeneProduct uniprot:Q8WUM0
AHCTF1 GeneProduct uniprot:Q8WYP5
NUP205 GeneProduct uniprot:Q92621
SEH1L GeneProduct uniprot:Q96EE3
POM121 GeneProduct uniprot:Q96HA1
NUP88 GeneProduct uniprot:Q99567
NDC1 GeneProduct uniprot:Q9BTX1
NUP58 GeneProduct uniprot:Q9BVL2
NUP85 GeneProduct uniprot:Q9BW27
AAAS GeneProduct uniprot:Q9NRG9
NUP50 GeneProduct uniprot:Q9UKX7
FMR1 GeneProduct ensembl:ENSG00000102081
GOLGA6L2 GeneProduct ensembl:ENSG00000174450
EIF4E GeneProduct ensembl:ENSG00000151247
GOLGA8S GeneProduct ensembl:ENSG00000261739
UBE2N GeneProduct ensembl:ENSG00000177889
RNF8 GeneProduct ensembl:ENSG00000112130
SLC45A2 GeneProduct ensembl:ENSG00000164175
GABA(A) receptorsubunit delta GeneProduct ensembl:ENSG00000187730
HERC2 GeneProduct ensembl:ENSG00000128731
LHB GeneProduct uniprot:P01229
MDM4 GeneProduct uniprot:O15151
ARF GeneProduct uniprot:Q8N726
FSHB GeneProduct uniprot:P01225
GABA(A) receptor subunit beta-3 GeneProduct uniprot:P28472
CDC6 GeneProduct uniprot:Q99741
CGA GeneProduct uniprot:P01215
MDM2 GeneProduct uniprot:Q00987
GABA(A) receptor subunit alpha-5 GeneProduct uniprot:P31644
IPW GeneProduct ncbigene:3653
SNORD116@ GeneProduct ncbigene:692236
MAGEL2 GeneProduct ensembl:ENSG00000254585
CYFIP1 GeneProduct ensembl:ENSG00000273749
GABRA5 GeneProduct ensembl:ENSG00000186297
GABRB3 GeneProduct ensembl:ENSG00000166206
PCSK1 GeneProduct ensembl:ENSG00000175426
TUBGCP5 GeneProduct ensembl:ENSG00000275835
NHLH2 GeneProduct ensembl:ENSG00000177551
GABRG3 GeneProduct ensembl:ENSG00000182256
SNORD115@ GeneProduct ncbigene:692218
NIPA2 GeneProduct ensembl:ENSG00000140157
NIPA1 GeneProduct ensembl:ENSG00000170113
ATP10A GeneProduct ensembl:ENSG00000206190
SNORD108 GeneProduct ensembl:ENSG00000239014
SNURF GeneProduct ensembl:ENSG00000273173
SNRPN GeneProduct ensembl:ENSG00000128739
NDN GeneProduct ensembl:ENSG00000182636
UBE3A GeneProduct ensembl:ENSG00000114062
MKRN3 GeneProduct ensembl:ENSG00000179455
NPAP1 GeneProduct ensembl:ENSG00000185823
SNORD64 GeneProduct ensembl:ENSG00000276610
SNORD109A GeneProduct ensembl:ENSG00000274640
SNORD109B GeneProduct ensembl:ENSG00000239169
SNURF-SNRPN GeneProduct ensembl:ENSG00000128739
PCSK1 GeneProduct ensembl:ENSG00000175426
CGA GeneProduct uniprot:P01215
E2F1 GeneProduct ensembl:ENSG00000101412
UBE3A GeneProduct ensembl:ENSG00000114062
E2F1 GeneProduct ensembl:ENSG00000101412
OCA2 GeneProduct ensembl:ENSG00000104044
MSX1 GeneProduct ensembl:ENSG00000163132
DLX5 GeneProduct ensembl:ENSG00000105880
MAGEL2 GeneProduct ensembl:ENSG00000254585
NDN GeneProduct ensembl:ENSG00000182636
PCM1 GeneProduct ensembl:ENSG00000078674
FEZ1 GeneProduct ensembl:ENSG00000149557
BBS4 GeneProduct ensembl:ENSG00000140463
NGF GeneProduct ensembl:ENSG00000134259
FEZ1 GeneProduct ensembl:ENSG00000149557
PRKCZ GeneProduct ensembl:ENSG00000067606
BBS4 GeneProduct ensembl:ENSG00000140463
HTR2C GeneProduct ensembl:ENSG00000147246
GABRR1 GeneProduct ncbigene:2569
GABRR2 GeneProduct ncbigene:2570
GABRR3 GeneProduct ncbigene:200959
HTR2C Protein ensembl:ENSG00000147246
CCND1 Protein uniprot:P24385
CCND2 Protein uniprot:P30279
RB1 Protein uniprot:P06400
p16-INK4a Protein uniprot:P42771
CDKN2B Protein uniprot:P42772
NK3R Protein uniprot:P29371
KISS1 Protein uniprot:Q15726
P-protein Protein uniprot:Q04671
Tyrosinase Protein uniprot:P14679
p53 Protein uniprot:P04637
CDK4 Protein uniprot:P11802
NKB Protein uniprot:Q2UVB8
GHRH (1-108) Protein uniprot:P01286
GHRH (32-75) Protein uniprot:P01286
Insulin (25-110) Protein uniprot:P01308
POMC (1-241) Protein uniprot:P01189
Oxytocin-neurophysin 1 (1-125) Protein uniprot:P01178
Ghrelin (24-51) Protein uniprot:Q9UBU3
GNRH1 (24-92) Protein uniprot:P01148
POMC (138-150) Protein uniprot:P01189
Insulin B chain(25-54) Protein uniprot:P01308
GNRH1 (24-33) Protein uniprot:P01148
BDNF (1-247) Protein uniprot:P23560
Oxytocin (20-28) Protein uniprot:P01178
BDNF (129-247) Protein uniprot:P23560
Ghrelin (1-117) Protein uniprot:Q9UBU3
Insulin A chain(90-110) Protein uniprot:P01308
Insulin (57-87) Protein uniprot:P01308
p16-INK4a Protein uniprot:P42771
CDKN2C Protein uniprot:P42773
CCND1 Protein uniprot:P24385
CCND2 Protein uniprot:P30279
CDK6 Protein uniprot:Q00534
FEZ2 Protein ensembl:ENSG00000171055
GNRH1 Protein uniprot:P01148
GABRG2 Protein ensembl:ENSG00000113327
GABRG1 Protein ensembl:ENSG00000163285
GABRG3 Protein ensembl:ENSG00000182256


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