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:0008939 |
DKC1 |
O60832 |
5.4.99.-
|
R-HSA-171319
R-HSA-171319
Reactome Name: Telomere Extension By Telomerase
See in Reactome
R-HSA-6790901
R-HSA-6790901
Reactome Name: rRNA modification in the nucleus and cytosol
See in Reactome
|
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-8953854
R-HSA-157579
R-HSA-180786
R-HSA-1640170
R-HSA-73886
R-HSA-72312
|
Metabolism of RNA
Cell Cycle
|
R-HSA-163090
(
R-HSA-171319
)
R-HSA-163090
Reaction Name: Elongation Of The Telomeric Chromosome End
See in Reactome
R-HSA-163096
(
R-HSA-171319
)
R-HSA-163096
Reaction Name: Recruitment of Telomerase RNP to the Telomeric Chromosome End
See in Reactome
R-HSA-163099
(
R-HSA-171319
)
R-HSA-163099
Reaction Name: Alignment Of The RNA Template On The Telomeric Chromosome End
See in Reactome
R-HSA-163120
(
R-HSA-171319
)
R-HSA-163120
Reaction Name: Disassociation of Telomerase RNP and the Chromosome End
See in Reactome
R-HSA-164616
(
R-HSA-171319
)
R-HSA-164616
Reaction Name: Biogenesis and assembly of the telomerase RNP
See in Reactome
R-HSA-164617
(
R-HSA-171319
)
R-HSA-164617
Reaction Name: Elongation of Extended Telomeric Chromosome End
See in Reactome
R-HSA-164620
(
R-HSA-171319
)
R-HSA-164620
Reaction Name: Translocation Of Telomerase RNP And Alignment Of RNA Template (TERC) To Extended Single Stranded Telomeric Chromosome-End
See in Reactome
R-HSA-6790905
(
R-HSA-6790901
)
R-HSA-6790905
Reaction Name: Box H/ACA snoRNP transforms uridine to pseudouridine in pre-rRNA
See in Reactome
R-HSA-9671145
(
R-HSA-171319
)
|
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:0016392 |
DKC1 |
O60832 |
5.4.99.-
|
R-HSA-171319
R-HSA-171319
Reactome Name: Telomere Extension By Telomerase
See in Reactome
R-HSA-6790901
R-HSA-6790901
Reactome Name: rRNA modification in the nucleus and cytosol
See in Reactome
|
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-8953854
R-HSA-157579
R-HSA-180786
R-HSA-1640170
R-HSA-73886
R-HSA-72312
|
Metabolism of RNA
Cell Cycle
|
R-HSA-163090
(
R-HSA-171319
)
R-HSA-163090
Reaction Name: Elongation Of The Telomeric Chromosome End
See in Reactome
R-HSA-163096
(
R-HSA-171319
)
R-HSA-163096
Reaction Name: Recruitment of Telomerase RNP to the Telomeric Chromosome End
See in Reactome
R-HSA-163099
(
R-HSA-171319
)
R-HSA-163099
Reaction Name: Alignment Of The RNA Template On The Telomeric Chromosome End
See in Reactome
R-HSA-163120
(
R-HSA-171319
)
R-HSA-163120
Reaction Name: Disassociation of Telomerase RNP and the Chromosome End
See in Reactome
R-HSA-164616
(
R-HSA-171319
)
R-HSA-164616
Reaction Name: Biogenesis and assembly of the telomerase RNP
See in Reactome
R-HSA-164617
(
R-HSA-171319
)
R-HSA-164617
Reaction Name: Elongation of Extended Telomeric Chromosome End
See in Reactome
R-HSA-164620
(
R-HSA-171319
)
R-HSA-164620
Reaction Name: Translocation Of Telomerase RNP And Alignment Of RNA Template (TERC) To Extended Single Stranded Telomeric Chromosome-End
See in Reactome
R-HSA-6790905
(
R-HSA-6790901
)
R-HSA-6790905
Reaction Name: Box H/ACA snoRNP transforms uridine to pseudouridine in pre-rRNA
See in Reactome
R-HSA-9671145
(
R-HSA-171319
)
|
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:0018045 |
DKC1 |
O60832 |
5.4.99.-
|
R-HSA-171319
R-HSA-171319
Reactome Name: Telomere Extension By Telomerase
See in Reactome
R-HSA-6790901
R-HSA-6790901
Reactome Name: rRNA modification in the nucleus and cytosol
See in Reactome
|
R-HSA-8868773
R-HSA-8868773
Reactome Name: rRNA processing in the nucleus and cytosol
See in Reactome
R-HSA-8953854
R-HSA-157579
R-HSA-180786
R-HSA-1640170
R-HSA-73886
R-HSA-72312
|
Metabolism of RNA
Cell Cycle
|
R-HSA-163090
(
R-HSA-171319
)
R-HSA-163090
Reaction Name: Elongation Of The Telomeric Chromosome End
See in Reactome
R-HSA-163096
(
R-HSA-171319
)
R-HSA-163096
Reaction Name: Recruitment of Telomerase RNP to the Telomeric Chromosome End
See in Reactome
R-HSA-163099
(
R-HSA-171319
)
R-HSA-163099
Reaction Name: Alignment Of The RNA Template On The Telomeric Chromosome End
See in Reactome
R-HSA-163120
(
R-HSA-171319
)
R-HSA-163120
Reaction Name: Disassociation of Telomerase RNP and the Chromosome End
See in Reactome
R-HSA-164616
(
R-HSA-171319
)
R-HSA-164616
Reaction Name: Biogenesis and assembly of the telomerase RNP
See in Reactome
R-HSA-164617
(
R-HSA-171319
)
R-HSA-164617
Reaction Name: Elongation of Extended Telomeric Chromosome End
See in Reactome
R-HSA-164620
(
R-HSA-171319
)
R-HSA-164620
Reaction Name: Translocation Of Telomerase RNP And Alignment Of RNA Template (TERC) To Extended Single Stranded Telomeric Chromosome-End
See in Reactome
R-HSA-6790905
(
R-HSA-6790901
)
R-HSA-6790905
Reaction Name: Box H/ACA snoRNP transforms uridine to pseudouridine in pre-rRNA
See in Reactome
R-HSA-9671145
(
R-HSA-171319
)
|
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
|