Rett syndrome (WP4312)

Homo sapiens

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Protein - protein interaction between genes that are associated with Rett syndrome like phenotype according to the paper Ehrhart et al. 2018 "current developments in the genetics of Rett and Rett-like syndrome" Curr. Psy.

Authors

Max Van Son , Friederike Ehrhart , Denise Slenter , Finterly Hu , Egon Willighagen , and Eric Weitz

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

Rett syndrome

Cell Type Ontology

neuron

Participants
Query Drugst.One

Label Type Compact URI Comment
EIF2B2 GeneProduct ensembl:ENSG00000119718
MECP2 GeneProduct ensembl:ENSG00000169057
TAF1B GeneProduct ensembl:ENSG00000115750
GABRA3 GeneProduct ensembl:ENSG00000011677
NCOR1 GeneProduct ensembl:ENSG00000141027
SMARCA2 GeneProduct ensembl:ENSG00000080503
MEF2C GeneProduct ensembl:ENSG00000081189
HAP1 GeneProduct ensembl:ENSG00000173805
FOXG1 GeneProduct ensembl:ENSG00000176165
SCN2A GeneProduct ensembl:ENSG00000136531
SATB2 GeneProduct ensembl:ENSG00000119042
TBL1X GeneProduct ensembl:ENSG00000101849
GNAO1 GeneProduct ensembl:ENSG00000087258
SCN1A GeneProduct ensembl:ENSG00000144285
SRRM3 GeneProduct ensembl:ENSG00000177679
HDAC5 GeneProduct ensembl:ENSG00000108840
GABBR2 GeneProduct ensembl:ENSG00000136928
SCN8A GeneProduct ensembl:ENSG00000196876
JARID1B GeneProduct ensembl:ENSG00000117139
CHD4 GeneProduct ensembl:ENSG00000111642
SMC1A GeneProduct ensembl:ENSG00000072501
GRIN2B GeneProduct ensembl:ENSG00000273079
TCF4 GeneProduct ensembl:ENSG00000196628
HDAC8 GeneProduct ensembl:ENSG00000147099
CDKL5 GeneProduct ensembl:ENSG00000008086
SYNGAP1 GeneProduct ensembl:ENSG00000197283
GABRD GeneProduct ensembl:ENSG00000187730
SHANK3 GeneProduct ensembl:ENSG00000251322
SYNE2 GeneProduct ensembl:ENSG00000054654
HDAC1 GeneProduct ensembl:ENSG00000116478
CECR2 GeneProduct ensembl:ENSG00000099954
BRAF GeneProduct ensembl:ENSG00000157764
GPS2 GeneProduct ensembl:ENSG00000132522
HTT GeneProduct ensembl:ENSG00000197386
SMARCA1 GeneProduct ensembl:ENSG00000102038
ACTL6B GeneProduct ensembl:ENSG00000077080
IMPDH2 GeneProduct ensembl:ENSG00000178035
STXBP1 GeneProduct ensembl:ENSG00000136854
TBL1XR1 GeneProduct ensembl:ENSG00000177565
HIVEP2 GeneProduct ensembl:ENSG00000010818
SMARCA4 GeneProduct ensembl:ENSG00000127616
NCOR2 GeneProduct ensembl:ENSG00000196498
KCNJ10 GeneProduct ensembl:ENSG00000177807
GRIN2A GeneProduct ensembl:ENSG00000183454
XAB2 GeneProduct ensembl:ENSG00000076924
TRRAP GeneProduct ensembl:ENSG00000196367
KCNQ2 GeneProduct ensembl:ENSG00000281151
RHOBTB2 GeneProduct ensembl:ENSG00000008853
CRK GeneProduct ensembl:ENSG00000167193

References

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  16. Physical and genetic interactions of yeast Cwc21p, an ortholog of human SRm300/SRRM2, suggest a role at the catalytic center of the spliceosome. Grainger RJ, Barrass JD, Jacquier A, Rain JC, Beggs JD. RNA. 2009 Dec;15(12):2161–73. PubMed Europe PMC Scholia
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