MONDO:0001071 |
MONDO:0001071
Disease Name: intellectual disability
Orphanet id: Orphanet:319658
All associated enzymes in DAR:
CYP2U1
DHX16
CBS
POLG
UFSP2
P4HTM
PDIA3
DHX30
TET3
ALG3
NAGLU
CHD3
SMPD1
DHX34
GCH1
CARNMT1
CYP27A1
ABCD1
CHD2
DDX54
INO80
PTPN4
DHX37
CHD3 |
Q12873 |
3.6.4.12
|
R-HSA-6804758
R-HSA-6804758
Reactome Name: Regulation of TP53 Activity through Acetylation
See in Reactome
R-HSA-427389
R-HSA-427389
Reactome Name: ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
See in Reactome
R-HSA-4551638
R-HSA-4551638
Reactome Name: SUMOylation of chromatin organization proteins
See in Reactome
R-HSA-73762
R-HSA-73762
Reactome Name: RNA Polymerase I Transcription Initiation
See in Reactome
R-HSA-3214815
R-HSA-8943724
R-HSA-8943724
Reactome Name: Regulation of PTEN gene transcription
See in Reactome
|
R-HSA-3700989
R-HSA-3700989
Reactome Name: Transcriptional Regulation by TP53
See in Reactome
R-HSA-6807070
R-HSA-5633007
R-HSA-1257604
R-HSA-212436
R-HSA-74160
R-HSA-3108232
R-HSA-3108232
Reactome Name: SUMO E3 ligases SUMOylate target proteins
See in Reactome
R-HSA-392499
R-HSA-5250913
R-HSA-5250913
Reactome Name: Positive epigenetic regulation of rRNA expression
See in Reactome
R-HSA-9006925
R-HSA-9006925
Reactome Name: Intracellular signaling by second messengers
See in Reactome
R-HSA-73864
R-HSA-4839726
R-HSA-2990846
R-HSA-212165
R-HSA-212165
Reactome Name: Epigenetic regulation of gene expression
See in Reactome
R-HSA-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
R-HSA-3247509
R-HSA-73854
R-HSA-73854
Reactome Name: RNA Polymerase I Promoter Clearance
See in Reactome
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism of proteins
Chromatin organization
Signal Transduction
|
R-HSA-3769447
(
R-HSA-3214815
)
R-HSA-3769447
Reaction Name: HDAC1:2-containing complex deacetylate histones
See in Reactome
R-HSA-427336
(
R-HSA-427389
)
R-HSA-427336
Reaction Name: TTF1:rRNA promoter:ERCC6:EHMT2 complex dimethylates histone H3 at lysine-9.
See in Reactome
R-HSA-427404
(
R-HSA-427389
)
R-HSA-427404
Reaction Name: Recruitment of ERCC6 (CSB), EHMT2 (G9a), and NuRD to the promoter of rRNA gene
See in Reactome
R-HSA-6805650
(
R-HSA-6804758
)
R-HSA-6805650
Reaction Name: MTA2-NuRD complex deacetylates TP53
See in Reactome
R-HSA-73739
(
R-HSA-73762
)
R-HSA-73739
Reaction Name: Recruitment of Acetylated SL1 to phosUBF-1:rDNA Promoter
See in Reactome
R-HSA-8943780
(
R-HSA-8943724
)
R-HSA-8943780
Reaction Name: SALL4 recruits NuRD to PTEN gene
See in Reactome
R-HSA-8944104
(
R-HSA-8943724
)
R-HSA-8944104
Reaction Name: PTEN gene transcription is stimulated by TP53, EGR1, PPARG, ATF2, MAF1, and inhibited by NR2E1, SALL4, MECOM, SNAI1, SNAI2, JUN
See in Reactome
R-HSA-8956365
(
R-HSA-4551638
)
R-HSA-8956365
Reaction Name: ZBED1 (DREF) SUMOylates CHD3 with SUMO1
See in Reactome
R-HSA-9679787
(
R-HSA-3214815
)
R-HSA-9679787
Reaction Name: HDAC1:2-containing complex binds HDAC2 Inhibitors
See in Reactome
|
MONDO:0010471 |
HDAC8 |
Q9BY41 |
3.5.1.98
3.5.1.-
|
R-HSA-2500257
R-HSA-2500257
Reactome Name: Resolution of Sister Chromatid Cohesion
See in Reactome
R-HSA-2122947
R-HSA-2122947
Reactome Name: NOTCH1 Intracellular Domain Regulates Transcription
See in Reactome
R-HSA-350054
R-HSA-350054
Reactome Name: Notch-HLH transcription pathway
See in Reactome
R-HSA-2467813
R-HSA-2467813
Reactome Name: Separation of Sister Chromatids
See in Reactome
R-HSA-3214815
|
R-HSA-1980143
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-212436
R-HSA-74160
R-HSA-157118
R-HSA-68886
R-HSA-69278
R-HSA-4839726
R-HSA-68882
R-HSA-1640170
R-HSA-73857
R-HSA-68877
R-HSA-162582
R-HSA-3247509
|
Gene expression (Transcription)
Chromatin organization
Cell Cycle
Signal Transduction
|
R-HSA-1912388
(
R-HSA-2122947
)
R-HSA-1912388
Reaction Name: NICD1 displaces co-repressor complex from RBPJ (CSL)
See in Reactome
R-HSA-350058
(
R-HSA-350054
)
R-HSA-350058
Reaction Name: Formation of CSL NCOR corepressor complex
See in Reactome
R-HSA-3782637
(
R-HSA-3214815
)
|
MONDO:0010665 |
HDAC8 |
Q9BY41 |
3.5.1.98
3.5.1.-
|
R-HSA-2500257
R-HSA-2500257
Reactome Name: Resolution of Sister Chromatid Cohesion
See in Reactome
R-HSA-2122947
R-HSA-2122947
Reactome Name: NOTCH1 Intracellular Domain Regulates Transcription
See in Reactome
R-HSA-350054
R-HSA-350054
Reactome Name: Notch-HLH transcription pathway
See in Reactome
R-HSA-2467813
R-HSA-2467813
Reactome Name: Separation of Sister Chromatids
See in Reactome
R-HSA-3214815
|
R-HSA-1980143
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-212436
R-HSA-74160
R-HSA-157118
R-HSA-68886
R-HSA-69278
R-HSA-4839726
R-HSA-68882
R-HSA-1640170
R-HSA-73857
R-HSA-68877
R-HSA-162582
R-HSA-3247509
|
Gene expression (Transcription)
Chromatin organization
Cell Cycle
Signal Transduction
|
R-HSA-1912388
(
R-HSA-2122947
)
R-HSA-1912388
Reaction Name: NICD1 displaces co-repressor complex from RBPJ (CSL)
See in Reactome
R-HSA-350058
(
R-HSA-350054
)
R-HSA-350058
Reaction Name: Formation of CSL NCOR corepressor complex
See in Reactome
R-HSA-3782637
(
R-HSA-3214815
)
|
MONDO:0014751 |
KDM1A |
O60341 |
1.14.99.66
|
R-HSA-5625886
R-HSA-5625886
Reactome Name: Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
See in Reactome
R-HSA-9018519
R-HSA-9018519
Reactome Name: Estrogen-dependent gene expression
See in Reactome
R-HSA-9029569
R-HSA-9029569
Reactome Name: NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
See in Reactome
R-HSA-3214842
R-HSA-3214815
R-HSA-983231
R-HSA-983231
Reactome Name: Factors involved in megakaryocyte development and platelet production
See in Reactome
R-HSA-8943724
R-HSA-8943724
Reactome Name: Regulation of PTEN gene transcription
See in Reactome
|
R-HSA-195258
R-HSA-1257604
R-HSA-6807070
R-HSA-194315
R-HSA-9006931
R-HSA-9006931
Reactome Name: Signaling by Nuclear Receptors
See in Reactome
R-HSA-9006925
R-HSA-9006925
Reactome Name: Intracellular signaling by second messengers
See in Reactome
R-HSA-8939211
R-HSA-162582
R-HSA-4839726
R-HSA-5625740
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-109582
R-HSA-9024446
R-HSA-9024446
Reactome Name: NR1H2 and NR1H3-mediated signaling
See in Reactome
R-HSA-3247509
|
Signal Transduction
Chromatin organization
Hemostasis
|
R-HSA-3214912
(
R-HSA-3214842
)
R-HSA-3214912
Reaction Name: KDM1A, KDM1B demethylate MeK5-histone H3
See in Reactome
R-HSA-3769447
(
R-HSA-3214815
)
R-HSA-3769447
Reaction Name: HDAC1:2-containing complex deacetylate histones
See in Reactome
R-HSA-5625848
(
R-HSA-5625886
)
R-HSA-5625848
Reaction Name: KDM1A demethylates dimethylated H3K9 (Me2K-10-H3) at KLK2 and KLK3 promoters
See in Reactome
R-HSA-5625849
(
R-HSA-5625886
)
R-HSA-5625849
Reaction Name: Demethylase KDM1A binds KLK2 and KLK3 promoters
See in Reactome
R-HSA-5625870
(
R-HSA-5625886
)
R-HSA-5625870
Reaction Name: KDM1A demethylates monomethylated H3K9 (MeK-10-H3) at KLK2 and KLK3 promoters
See in Reactome
R-HSA-5661123
(
R-HSA-3214842
)
R-HSA-5661123
Reaction Name: KDM1A, KDM1B demethylate Me2K5-histone H3
See in Reactome
R-HSA-6807077
(
R-HSA-8943724
)
R-HSA-6807077
Reaction Name: NR2E1 associated with transcription repressors binds PTEN promoter
See in Reactome
R-HSA-8944104
(
R-HSA-8943724
)
R-HSA-8944104
Reaction Name: PTEN gene transcription is stimulated by TP53, EGR1, PPARG, ATF2, MAF1, and inhibited by NR2E1, SALL4, MECOM, SNAI1, SNAI2, JUN
See in Reactome
R-HSA-9011984
(
R-HSA-9018519
)
R-HSA-9011984
Reaction Name: KDM1A is recruited to MYC and BCL2 genes
See in Reactome
R-HSA-9011985
(
R-HSA-9018519
)
R-HSA-9011985
Reaction Name: KDM1A demethylates H3 on MYC and BCL genes in response to estrogen
See in Reactome
R-HSA-9024361
(
R-HSA-9029569
)
R-HSA-9024361
Reaction Name: Expression of ABCG1 regulated by NR1H2,3
See in Reactome
R-HSA-9024386
(
R-HSA-9029569
)
R-HSA-9024386
Reaction Name: Oxysterol-induced binding of NR1H2,3:RXR to the ABCG1 gene
See in Reactome
R-HSA-9679787
(
R-HSA-3214815
)
R-HSA-9679787
Reaction Name: HDAC1:2-containing complex binds HDAC2 Inhibitors
See in Reactome
R-HSA-996727
(
R-HSA-983231
)
|
MONDO:0014946 |
CHD4 |
Q14839 |
3.6.4.12
|
R-HSA-6804758
R-HSA-6804758
Reactome Name: Regulation of TP53 Activity through Acetylation
See in Reactome
R-HSA-427389
R-HSA-427389
Reactome Name: ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
See in Reactome
R-HSA-9031628
R-HSA-73762
R-HSA-73762
Reactome Name: RNA Polymerase I Transcription Initiation
See in Reactome
R-HSA-3214815
R-HSA-8943724
R-HSA-8943724
Reactome Name: Regulation of PTEN gene transcription
See in Reactome
|
R-HSA-3700989
R-HSA-3700989
Reactome Name: Transcriptional Regulation by TP53
See in Reactome
R-HSA-6807070
R-HSA-5633007
R-HSA-166520
R-HSA-212436
R-HSA-74160
R-HSA-1257604
R-HSA-5250913
R-HSA-5250913
Reactome Name: Positive epigenetic regulation of rRNA expression
See in Reactome
R-HSA-4839726
R-HSA-9006925
R-HSA-9006925
Reactome Name: Intracellular signaling by second messengers
See in Reactome
R-HSA-73864
R-HSA-198725
R-HSA-198725
Reactome Name: Nuclear Events (kinase and transcription factor activation)
See in Reactome
R-HSA-162582
R-HSA-212165
R-HSA-212165
Reactome Name: Epigenetic regulation of gene expression
See in Reactome
R-HSA-9006934
R-HSA-9006934
Reactome Name: Signaling by Receptor Tyrosine Kinases
See in Reactome
R-HSA-3247509
R-HSA-73854
R-HSA-73854
Reactome Name: RNA Polymerase I Promoter Clearance
See in Reactome
R-HSA-187037
R-HSA-73857
|
Gene expression (Transcription)
Chromatin organization
Signal Transduction
|
R-HSA-3769447
(
R-HSA-3214815
)
R-HSA-3769447
Reaction Name: HDAC1:2-containing complex deacetylate histones
See in Reactome
R-HSA-427336
(
R-HSA-427389
)
R-HSA-427336
Reaction Name: TTF1:rRNA promoter:ERCC6:EHMT2 complex dimethylates histone H3 at lysine-9.
See in Reactome
R-HSA-427404
(
R-HSA-427389
)
R-HSA-427404
Reaction Name: Recruitment of ERCC6 (CSB), EHMT2 (G9a), and NuRD to the promoter of rRNA gene
See in Reactome
R-HSA-6805650
(
R-HSA-6804758
)
R-HSA-6805650
Reaction Name: MTA2-NuRD complex deacetylates TP53
See in Reactome
R-HSA-73739
(
R-HSA-73762
)
R-HSA-73739
Reaction Name: Recruitment of Acetylated SL1 to phosUBF-1:rDNA Promoter
See in Reactome
R-HSA-8943780
(
R-HSA-8943724
)
R-HSA-8943780
Reaction Name: SALL4 recruits NuRD to PTEN gene
See in Reactome
R-HSA-8944104
(
R-HSA-8943724
)
R-HSA-8944104
Reaction Name: PTEN gene transcription is stimulated by TP53, EGR1, PPARG, ATF2, MAF1, and inhibited by NR2E1, SALL4, MECOM, SNAI1, SNAI2, JUN
See in Reactome
R-HSA-9612534
(
R-HSA-9031628
)
R-HSA-9612534
Reaction Name: Expression of ID2 and ID4 is repressed by EGR2:NAB
See in Reactome
R-HSA-9613213
(
R-HSA-9031628
)
R-HSA-9613213
Reaction Name: NAB2 and CHD4 bind and repress EGR-mediated RRAD gene expression
See in Reactome
R-HSA-9613219
(
R-HSA-9031628
)
R-HSA-9613476
(
R-HSA-9031628
)
R-HSA-9613476
Reaction Name: EGR2:NAB2 and CHD4 bind the ID2 and ID4 promoter regions
See in Reactome
R-HSA-9679787
(
R-HSA-3214815
)
R-HSA-9679787
Reaction Name: HDAC1:2-containing complex binds HDAC2 Inhibitors
See in Reactome
|
MONDO:0032600 |
CHD3 |
Q12873 |
3.6.4.12
|
R-HSA-6804758
R-HSA-6804758
Reactome Name: Regulation of TP53 Activity through Acetylation
See in Reactome
R-HSA-427389
R-HSA-427389
Reactome Name: ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
See in Reactome
R-HSA-4551638
R-HSA-4551638
Reactome Name: SUMOylation of chromatin organization proteins
See in Reactome
R-HSA-73762
R-HSA-73762
Reactome Name: RNA Polymerase I Transcription Initiation
See in Reactome
R-HSA-3214815
R-HSA-8943724
R-HSA-8943724
Reactome Name: Regulation of PTEN gene transcription
See in Reactome
|
R-HSA-3700989
R-HSA-3700989
Reactome Name: Transcriptional Regulation by TP53
See in Reactome
R-HSA-6807070
R-HSA-5633007
R-HSA-1257604
R-HSA-212436
R-HSA-74160
R-HSA-3108232
R-HSA-3108232
Reactome Name: SUMO E3 ligases SUMOylate target proteins
See in Reactome
R-HSA-392499
R-HSA-5250913
R-HSA-5250913
Reactome Name: Positive epigenetic regulation of rRNA expression
See in Reactome
R-HSA-9006925
R-HSA-9006925
Reactome Name: Intracellular signaling by second messengers
See in Reactome
R-HSA-73864
R-HSA-4839726
R-HSA-2990846
R-HSA-212165
R-HSA-212165
Reactome Name: Epigenetic regulation of gene expression
See in Reactome
R-HSA-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
R-HSA-3247509
R-HSA-73854
R-HSA-73854
Reactome Name: RNA Polymerase I Promoter Clearance
See in Reactome
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism of proteins
Chromatin organization
Signal Transduction
|
R-HSA-3769447
(
R-HSA-3214815
)
R-HSA-3769447
Reaction Name: HDAC1:2-containing complex deacetylate histones
See in Reactome
R-HSA-427336
(
R-HSA-427389
)
R-HSA-427336
Reaction Name: TTF1:rRNA promoter:ERCC6:EHMT2 complex dimethylates histone H3 at lysine-9.
See in Reactome
R-HSA-427404
(
R-HSA-427389
)
R-HSA-427404
Reaction Name: Recruitment of ERCC6 (CSB), EHMT2 (G9a), and NuRD to the promoter of rRNA gene
See in Reactome
R-HSA-6805650
(
R-HSA-6804758
)
R-HSA-6805650
Reaction Name: MTA2-NuRD complex deacetylates TP53
See in Reactome
R-HSA-73739
(
R-HSA-73762
)
R-HSA-73739
Reaction Name: Recruitment of Acetylated SL1 to phosUBF-1:rDNA Promoter
See in Reactome
R-HSA-8943780
(
R-HSA-8943724
)
R-HSA-8943780
Reaction Name: SALL4 recruits NuRD to PTEN gene
See in Reactome
R-HSA-8944104
(
R-HSA-8943724
)
R-HSA-8944104
Reaction Name: PTEN gene transcription is stimulated by TP53, EGR1, PPARG, ATF2, MAF1, and inhibited by NR2E1, SALL4, MECOM, SNAI1, SNAI2, JUN
See in Reactome
R-HSA-8956365
(
R-HSA-4551638
)
R-HSA-8956365
Reaction Name: ZBED1 (DREF) SUMOylates CHD3 with SUMO1
See in Reactome
R-HSA-9679787
(
R-HSA-3214815
)
R-HSA-9679787
Reaction Name: HDAC1:2-containing complex binds HDAC2 Inhibitors
See in Reactome
|