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
DHX37 |
Q8IY37 |
3.6.4.13
|
R-HSA-6791226
R-HSA-6791226
Reactome Name: Major pathway of rRNA processing in the nucleolus and cytosol
See in Reactome
R-HSA-6790901
R-HSA-6790901
Reactome Name: rRNA modification in the nucleus and cytosol
See in Reactome
|
R-HSA-8953854
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-72312
|
Metabolism of RNA
|
R-HSA-6790906
(
R-HSA-6790901
)
R-HSA-6790906
Reaction Name: EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248
See in Reactome
R-HSA-6791221
(
R-HSA-6791226
)
R-HSA-6791221
Reaction Name: 30S pre-rRNA is nucleolytically processed at site 1 to yield 21S pre-rRNA
See in Reactome
R-HSA-6791222
(
R-HSA-6791226
)
R-HSA-6791222
Reaction Name: 21S pre-rRNA is nucleolytically processed at site E (site2a) to yield 18SE pre-rRNA
See in Reactome
R-HSA-6791227
(
R-HSA-6791226
)
R-HSA-6791227
Reaction Name: 47S pre-rRNA is nucleolytically processed at A' (01,A1), site A0, and site 02 (site 6) to yield 45S pre-rRNA
See in Reactome
R-HSA-6791228
(
R-HSA-6791226
)
R-HSA-6791228
Reaction Name: 45S pre-rRNA is nucleolytically processed at site 2 (site 2b) to yield 30S pre-rRNA and 32S pre-rRNA
See in Reactome
|
MONDO:0007354 |
DHX37 |
Q8IY37 |
3.6.4.13
|
R-HSA-6791226
R-HSA-6791226
Reactome Name: Major pathway of rRNA processing in the nucleolus and cytosol
See in Reactome
R-HSA-6790901
R-HSA-6790901
Reactome Name: rRNA modification in the nucleus and cytosol
See in Reactome
|
R-HSA-8953854
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-72312
|
Metabolism of RNA
|
R-HSA-6790906
(
R-HSA-6790901
)
R-HSA-6790906
Reaction Name: EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248
See in Reactome
R-HSA-6791221
(
R-HSA-6791226
)
R-HSA-6791221
Reaction Name: 30S pre-rRNA is nucleolytically processed at site 1 to yield 21S pre-rRNA
See in Reactome
R-HSA-6791222
(
R-HSA-6791226
)
R-HSA-6791222
Reaction Name: 21S pre-rRNA is nucleolytically processed at site E (site2a) to yield 18SE pre-rRNA
See in Reactome
R-HSA-6791227
(
R-HSA-6791226
)
R-HSA-6791227
Reaction Name: 47S pre-rRNA is nucleolytically processed at A' (01,A1), site A0, and site 02 (site 6) to yield 45S pre-rRNA
See in Reactome
R-HSA-6791228
(
R-HSA-6791226
)
R-HSA-6791228
Reaction Name: 45S pre-rRNA is nucleolytically processed at site 2 (site 2b) to yield 30S pre-rRNA and 32S pre-rRNA
See in Reactome
|
MONDO:0008879 |
EMG1 |
Q92979 |
2.1.1.-
|
R-HSA-6791226
R-HSA-6791226
Reactome Name: Major pathway of rRNA processing in the nucleolus and cytosol
See in Reactome
R-HSA-6790901
R-HSA-6790901
Reactome Name: rRNA modification in the nucleus and cytosol
See in Reactome
|
R-HSA-8953854
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-72312
|
Metabolism of RNA
|
R-HSA-6790906
(
R-HSA-6790901
)
R-HSA-6790906
Reaction Name: EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248
See in Reactome
R-HSA-6791221
(
R-HSA-6791226
)
R-HSA-6791221
Reaction Name: 30S pre-rRNA is nucleolytically processed at site 1 to yield 21S pre-rRNA
See in Reactome
R-HSA-6791222
(
R-HSA-6791226
)
R-HSA-6791222
Reaction Name: 21S pre-rRNA is nucleolytically processed at site E (site2a) to yield 18SE pre-rRNA
See in Reactome
R-HSA-6791227
(
R-HSA-6791226
)
R-HSA-6791227
Reaction Name: 47S pre-rRNA is nucleolytically processed at A' (01,A1), site A0, and site 02 (site 6) to yield 45S pre-rRNA
See in Reactome
R-HSA-6791228
(
R-HSA-6791226
)
R-HSA-6791228
Reaction Name: 45S pre-rRNA is nucleolytically processed at site 2 (site 2b) to yield 30S pre-rRNA and 32S pre-rRNA
See in Reactome
|
MONDO:0009693 |
DIS3 |
Q9Y2L1 |
3.1.13.-
3.1.26.-
|
R-HSA-429958
R-HSA-429958
Reactome Name: mRNA decay by 3' to 5' exoribonuclease
See in Reactome
R-HSA-450385
R-HSA-450385
Reactome Name: Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
See in Reactome
R-HSA-380994
R-HSA-380994
Reactome Name: ATF4 activates genes in response to endoplasmic reticulum stress
See in Reactome
R-HSA-6791226
R-HSA-6791226
Reactome Name: Major pathway of rRNA processing in the nucleolus and cytosol
See in Reactome
R-HSA-450513
R-HSA-450513
Reactome Name: Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
See in Reactome
R-HSA-450604
R-HSA-450604
Reactome Name: KSRP (KHSRP) binds and destabilizes mRNA
See in Reactome
|
R-HSA-381042
R-HSA-381119
R-HSA-381119
Reactome Name: Unfolded Protein Response (UPR)
See in Reactome
R-HSA-8953897
R-HSA-8953854
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-2262752
R-HSA-450531
R-HSA-450531
Reactome Name: Regulation of mRNA stability by proteins that bind AU-rich elements
See in Reactome
R-HSA-429914
R-HSA-429914
Reactome Name: Deadenylation-dependent mRNA decay
See in Reactome
R-HSA-72312
|
Cellular responses to stimuli
Metabolism of RNA
|
R-HSA-430028
(
R-HSA-429958
)
R-HSA-430028
Reaction Name: Exosome Complex hydrolyzes mRNA by 3' to 5' exoribonuclease digestion
See in Reactome
R-HSA-450422
(
R-HSA-450604
)
R-HSA-450422
Reaction Name: KSRP recruits RNA degradation activities
See in Reactome
R-HSA-450431
(
R-HSA-450513
)
R-HSA-450431
Reaction Name: ZFP36 (TTP) recruits RNA degradation activities
See in Reactome
R-HSA-450488
(
R-HSA-450385
)
R-HSA-450488
Reaction Name: BRF1 Complex recruits RNA degradation activities
See in Reactome
R-HSA-517731
(
R-HSA-380994
)
R-HSA-6791218
(
R-HSA-6791226
)
R-HSA-6791218
Reaction Name: 12S pre-rRNA is nucleolytically processed to yield 5.8S rRNA
See in Reactome
|
MONDO:0010107 |
DHX37 |
Q8IY37 |
3.6.4.13
|
R-HSA-6791226
R-HSA-6791226
Reactome Name: Major pathway of rRNA processing in the nucleolus and cytosol
See in Reactome
R-HSA-6790901
R-HSA-6790901
Reactome Name: rRNA modification in the nucleus and cytosol
See in Reactome
|
R-HSA-8953854
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-72312
|
Metabolism of RNA
|
R-HSA-6790906
(
R-HSA-6790901
)
R-HSA-6790906
Reaction Name: EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248
See in Reactome
R-HSA-6791221
(
R-HSA-6791226
)
R-HSA-6791221
Reaction Name: 30S pre-rRNA is nucleolytically processed at site 1 to yield 21S pre-rRNA
See in Reactome
R-HSA-6791222
(
R-HSA-6791226
)
R-HSA-6791222
Reaction Name: 21S pre-rRNA is nucleolytically processed at site E (site2a) to yield 18SE pre-rRNA
See in Reactome
R-HSA-6791227
(
R-HSA-6791226
)
R-HSA-6791227
Reaction Name: 47S pre-rRNA is nucleolytically processed at A' (01,A1), site A0, and site 02 (site 6) to yield 45S pre-rRNA
See in Reactome
R-HSA-6791228
(
R-HSA-6791226
)
R-HSA-6791228
Reaction Name: 45S pre-rRNA is nucleolytically processed at site 2 (site 2b) to yield 30S pre-rRNA and 32S pre-rRNA
See in Reactome
|
MONDO:0014088 |
CSNK1D |
P48730 |
2.7.11.26
2.7.11.1
|
R-HSA-380270
R-HSA-380270
Reactome Name: Recruitment of mitotic centrosome proteins and complexes
See in Reactome
R-HSA-400253
R-HSA-204005
R-HSA-204005
Reactome Name: COPII-mediated vesicle transport
See in Reactome
R-HSA-2565942
R-HSA-2565942
Reactome Name: Regulation of PLK1 Activity at G2/M Transition
See in Reactome
R-HSA-380284
R-HSA-380284
Reactome Name: Loss of proteins required for interphase microtubule organization from the centrosome
See in Reactome
R-HSA-380320
R-HSA-380320
Reactome Name: Recruitment of NuMA to mitotic centrosomes
See in Reactome
R-HSA-6791226
R-HSA-6791226
Reactome Name: Major pathway of rRNA processing in the nucleolus and cytosol
See in Reactome
R-HSA-5620912
R-HSA-5620912
Reactome Name: Anchoring of the basal body to the plasma membrane
See in Reactome
R-HSA-380259
R-HSA-380259
Reactome Name: Loss of Nlp from mitotic centrosomes
See in Reactome
R-HSA-8854518
|
R-HSA-380287
R-HSA-68886
R-HSA-1852241
R-HSA-1852241
Reactome Name: Organelle biogenesis and maintenance
See in Reactome
R-HSA-8953854
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-453274
R-HSA-392499
R-HSA-68877
R-HSA-199991
R-HSA-446203
R-HSA-446203
Reactome Name: Asparagine N-linked glycosylation
See in Reactome
R-HSA-69278
R-HSA-72312
R-HSA-199977
R-HSA-199977
Reactome Name: ER to Golgi Anterograde Transport
See in Reactome
R-HSA-1640170
R-HSA-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
R-HSA-5617833
R-HSA-948021
R-HSA-948021
Reactome Name: Transport to the Golgi and subsequent modification
See in Reactome
R-HSA-69275
R-HSA-5653656
|
Circadian Clock
Organelle biogenesis and maintenance
Metabolism of RNA
Metabolism of proteins
Cell Cycle
Vesicle-mediated transport
|
R-HSA-1856948
(
R-HSA-400253
)
R-HSA-1856948
Reaction Name: Formation of CRY:PER:Kinase complex
See in Reactome
R-HSA-2574840
(
R-HSA-2565942
)
R-HSA-2574840
Reaction Name: AJUBA facilitates AURKA autophosphorylation
See in Reactome
R-HSA-2574845
(
R-HSA-2565942
)
R-HSA-2574845
Reaction Name: AJUBA binds centrosome-associated AURKA
See in Reactome
R-HSA-3000310
(
R-HSA-2565942
)
R-HSA-3000319
(
R-HSA-2565942
)
R-HSA-380272
(
R-HSA-380259;
R-HSA-380284
)
R-HSA-380272
Reaction Name: Plk1-mediated phosphorylation of Nlp
See in Reactome
R-HSA-380283
(
R-HSA-380270
)
R-HSA-380283
Reaction Name: Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
See in Reactome
R-HSA-380294
(
R-HSA-380284
)
R-HSA-380294
Reaction Name: Loss of C-Nap-1 from centrosomes
See in Reactome
R-HSA-380303
(
R-HSA-380259;
R-HSA-380284
)
R-HSA-380303
Reaction Name: Dissociation of Phospho-Nlp from the centrosome
See in Reactome
R-HSA-380311
(
R-HSA-380270
)
R-HSA-380311
Reaction Name: Recruitment of Plk1 to centrosomes
See in Reactome
R-HSA-380316
(
R-HSA-380320
)
R-HSA-380316
Reaction Name: Association of NuMA with microtubules
See in Reactome
R-HSA-380455
(
R-HSA-380270
)
R-HSA-380455
Reaction Name: Recruitment of CDK11p58 to the centrosomes
See in Reactome
R-HSA-380508
(
R-HSA-380320
)
R-HSA-380508
Reaction Name: Translocation of NuMA to the centrosomes
See in Reactome
R-HSA-400256
(
R-HSA-400253
)
R-HSA-400256
Reaction Name: CRY:PER heterodimer binds the BMAL1:CLOCK/NPAS2 heterodimer
See in Reactome
R-HSA-400382
(
R-HSA-400253
)
R-HSA-400382
Reaction Name: CSNK1E,CSNK1D phosphorylate CRY and PER proteins
See in Reactome
R-HSA-549385
(
R-HSA-400253
)
R-HSA-549385
Reaction Name: CRY:PER:Kinase complex translocates to the nucleus
See in Reactome
R-HSA-5617816
(
R-HSA-5620912
)
R-HSA-5617816
Reaction Name: RAB3IP stimulates nucleotide exchange on RAB8A
See in Reactome
R-HSA-5626220
(
R-HSA-5620912
)
R-HSA-5626220
Reaction Name: C2CD3 binds the mother centriole
See in Reactome
R-HSA-5626223
(
R-HSA-5620912
)
R-HSA-5626223
Reaction Name: C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
See in Reactome
R-HSA-5626227
(
R-HSA-5620912
)
R-HSA-5626227
Reaction Name: CP110 and CEP97 dissociate from the centriole
See in Reactome
R-HSA-5626228
(
R-HSA-5620912
)
R-HSA-5626228
Reaction Name: The distal appendage proteins recruit TTBK2
See in Reactome
R-HSA-5626681
(
R-HSA-5620912
)
R-HSA-5626681
Reaction Name: Recruitment of transition zone proteins
See in Reactome
R-HSA-5626699
(
R-HSA-5620912
)
R-HSA-5626699
Reaction Name: MARK4 binds ODF2 in the centriole
See in Reactome
R-HSA-5638009
(
R-HSA-5620912
)
R-HSA-5638009
Reaction Name: CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
See in Reactome
R-HSA-5694441
(
R-HSA-204005
)
R-HSA-6791223
(
R-HSA-6791226
)
R-HSA-6791223
Reaction Name: 18SE pre-rRNA in pre-40S particles is nucleolytically processed during translocation from the nucleus to the cytosol
See in Reactome
R-HSA-8853405
(
R-HSA-8854518
)
R-HSA-8853405
Reaction Name: TPX2 binds AURKA at centrosomes
See in Reactome
R-HSA-8853419
(
R-HSA-8854518
)
R-HSA-8853419
Reaction Name: TPX2 promotes AURKA autophosphorylation
See in Reactome
|
MONDO:0016674 |
DHX37 |
Q8IY37 |
3.6.4.13
|
R-HSA-6791226
R-HSA-6791226
Reactome Name: Major pathway of rRNA processing in the nucleolus and cytosol
See in Reactome
R-HSA-6790901
R-HSA-6790901
Reactome Name: rRNA modification in the nucleus and cytosol
See in Reactome
|
R-HSA-8953854
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-72312
|
Metabolism of RNA
|
R-HSA-6790906
(
R-HSA-6790901
)
R-HSA-6790906
Reaction Name: EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248
See in Reactome
R-HSA-6791221
(
R-HSA-6791226
)
R-HSA-6791221
Reaction Name: 30S pre-rRNA is nucleolytically processed at site 1 to yield 21S pre-rRNA
See in Reactome
R-HSA-6791222
(
R-HSA-6791226
)
R-HSA-6791222
Reaction Name: 21S pre-rRNA is nucleolytically processed at site E (site2a) to yield 18SE pre-rRNA
See in Reactome
R-HSA-6791227
(
R-HSA-6791226
)
R-HSA-6791227
Reaction Name: 47S pre-rRNA is nucleolytically processed at A' (01,A1), site A0, and site 02 (site 6) to yield 45S pre-rRNA
See in Reactome
R-HSA-6791228
(
R-HSA-6791226
)
R-HSA-6791228
Reaction Name: 45S pre-rRNA is nucleolytically processed at site 2 (site 2b) to yield 30S pre-rRNA and 32S pre-rRNA
See in Reactome
|
MONDO:0019438 |
DIS3 |
Q9Y2L1 |
3.1.13.-
3.1.26.-
|
R-HSA-429958
R-HSA-429958
Reactome Name: mRNA decay by 3' to 5' exoribonuclease
See in Reactome
R-HSA-450385
R-HSA-450385
Reactome Name: Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
See in Reactome
R-HSA-380994
R-HSA-380994
Reactome Name: ATF4 activates genes in response to endoplasmic reticulum stress
See in Reactome
R-HSA-6791226
R-HSA-6791226
Reactome Name: Major pathway of rRNA processing in the nucleolus and cytosol
See in Reactome
R-HSA-450513
R-HSA-450513
Reactome Name: Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
See in Reactome
R-HSA-450604
R-HSA-450604
Reactome Name: KSRP (KHSRP) binds and destabilizes mRNA
See in Reactome
|
R-HSA-381042
R-HSA-381119
R-HSA-381119
Reactome Name: Unfolded Protein Response (UPR)
See in Reactome
R-HSA-8953897
R-HSA-8953854
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-2262752
R-HSA-450531
R-HSA-450531
Reactome Name: Regulation of mRNA stability by proteins that bind AU-rich elements
See in Reactome
R-HSA-429914
R-HSA-429914
Reactome Name: Deadenylation-dependent mRNA decay
See in Reactome
R-HSA-72312
|
Cellular responses to stimuli
Metabolism of RNA
|
R-HSA-430028
(
R-HSA-429958
)
R-HSA-430028
Reaction Name: Exosome Complex hydrolyzes mRNA by 3' to 5' exoribonuclease digestion
See in Reactome
R-HSA-450422
(
R-HSA-450604
)
R-HSA-450422
Reaction Name: KSRP recruits RNA degradation activities
See in Reactome
R-HSA-450431
(
R-HSA-450513
)
R-HSA-450431
Reaction Name: ZFP36 (TTP) recruits RNA degradation activities
See in Reactome
R-HSA-450488
(
R-HSA-450385
)
R-HSA-450488
Reaction Name: BRF1 Complex recruits RNA degradation activities
See in Reactome
R-HSA-517731
(
R-HSA-380994
)
R-HSA-6791218
(
R-HSA-6791226
)
R-HSA-6791218
Reaction Name: 12S pre-rRNA is nucleolytically processed to yield 5.8S rRNA
See in Reactome
|
MONDO:0032888 |
DHX37 |
Q8IY37 |
3.6.4.13
|
R-HSA-6791226
R-HSA-6791226
Reactome Name: Major pathway of rRNA processing in the nucleolus and cytosol
See in Reactome
R-HSA-6790901
R-HSA-6790901
Reactome Name: rRNA modification in the nucleus and cytosol
See in Reactome
|
R-HSA-8953854
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-72312
|
Metabolism of RNA
|
R-HSA-6790906
(
R-HSA-6790901
)
R-HSA-6790906
Reaction Name: EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248
See in Reactome
R-HSA-6791221
(
R-HSA-6791226
)
R-HSA-6791221
Reaction Name: 30S pre-rRNA is nucleolytically processed at site 1 to yield 21S pre-rRNA
See in Reactome
R-HSA-6791222
(
R-HSA-6791226
)
R-HSA-6791222
Reaction Name: 21S pre-rRNA is nucleolytically processed at site E (site2a) to yield 18SE pre-rRNA
See in Reactome
R-HSA-6791227
(
R-HSA-6791226
)
R-HSA-6791227
Reaction Name: 47S pre-rRNA is nucleolytically processed at A' (01,A1), site A0, and site 02 (site 6) to yield 45S pre-rRNA
See in Reactome
R-HSA-6791228
(
R-HSA-6791226
)
R-HSA-6791228
Reaction Name: 45S pre-rRNA is nucleolytically processed at site 2 (site 2b) to yield 30S pre-rRNA and 32S pre-rRNA
See in Reactome
|
MONDO:8000015 |
DHX37 |
Q8IY37 |
3.6.4.13
|
R-HSA-6791226
R-HSA-6791226
Reactome Name: Major pathway of rRNA processing in the nucleolus and cytosol
See in Reactome
R-HSA-6790901
R-HSA-6790901
Reactome Name: rRNA modification in the nucleus and cytosol
See in Reactome
|
R-HSA-8953854
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-72312
|
Metabolism of RNA
|
R-HSA-6790906
(
R-HSA-6790901
)
R-HSA-6790906
Reaction Name: EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248
See in Reactome
R-HSA-6791221
(
R-HSA-6791226
)
R-HSA-6791221
Reaction Name: 30S pre-rRNA is nucleolytically processed at site 1 to yield 21S pre-rRNA
See in Reactome
R-HSA-6791222
(
R-HSA-6791226
)
R-HSA-6791222
Reaction Name: 21S pre-rRNA is nucleolytically processed at site E (site2a) to yield 18SE pre-rRNA
See in Reactome
R-HSA-6791227
(
R-HSA-6791226
)
R-HSA-6791227
Reaction Name: 47S pre-rRNA is nucleolytically processed at A' (01,A1), site A0, and site 02 (site 6) to yield 45S pre-rRNA
See in Reactome
R-HSA-6791228
(
R-HSA-6791226
)
R-HSA-6791228
Reaction Name: 45S pre-rRNA is nucleolytically processed at site 2 (site 2b) to yield 30S pre-rRNA and 32S pre-rRNA
See in Reactome
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