MONDO:0018770 |
MONDO:0018770
Disease Name: Jeune syndrome
OMIM id: OMIM:617088
Orphanet id: Orphanet:474
All associated enzymes in DAR:
LBR
. The disease is also associated to other non-enzyme proteins (not in DAR).
LBR |
Q14739 |
1.3.1.70
|
R-HSA-191273
R-HSA-9013106
R-HSA-2995383
R-HSA-2995383
Reactome Name: Initiation of Nuclear Envelope (NE) Reformation
See in Reactome
R-HSA-9022692
R-HSA-9022692
Reactome Name: Regulation of MECP2 expression and activity
See in Reactome
R-HSA-8980692
R-HSA-9013408
R-HSA-9013423
R-HSA-9013404
R-HSA-9013405
R-HSA-9013149
R-HSA-9013148
|
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-9012999
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-68886
R-HSA-212436
R-HSA-74160
R-HSA-194315
R-HSA-2995410
R-HSA-2995410
Reactome Name: Nuclear Envelope (NE) Reassembly
See in Reactome
R-HSA-556833
R-HSA-69278
R-HSA-1430728
R-HSA-68882
R-HSA-8986944
R-HSA-8986944
Reactome Name: Transcriptional Regulation by MECP2
See in Reactome
R-HSA-1640170
R-HSA-8957322
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
Cell Cycle
Signal Transduction
|
R-HSA-194674
(
R-HSA-191273
)
R-HSA-194674
Reaction Name: 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]
See in Reactome
R-HSA-9013004
(
R-HSA-8980692
)
R-HSA-9013004
Reaction Name: RHOA binds effectors at the ER membrane
See in Reactome
R-HSA-9013438
(
R-HSA-9013405
)
R-HSA-9013438
Reaction Name: RHOD binds effectors at the endosome membrane
See in Reactome
R-HSA-9014467
(
R-HSA-9013408
)
R-HSA-9014467
Reaction Name: RHOG binds effectors at the ER membrane
See in Reactome
R-HSA-9018594
(
R-HSA-9022692
)
R-HSA-9624798
(
R-HSA-2995383
)
R-HSA-9624800
(
R-HSA-2995383
)
R-HSA-9691174
(
R-HSA-9013149
)
R-HSA-9691174
Reaction Name: RAC1 binds effectors at the ER membrane
See in Reactome
R-HSA-9692809
(
R-HSA-9013148
)
R-HSA-9692809
Reaction Name: CDC42 binds effectors at the ER membrane
See in Reactome
R-HSA-9714361
(
R-HSA-9013106
)
R-HSA-9714361
Reaction Name: RHOC activates endoplasmic reticulum effectors
See in Reactome
R-HSA-9714481
(
R-HSA-9013404
)
R-HSA-9714481
Reaction Name: RAC2 binds effectors at the ER membrane
See in Reactome
R-HSA-9714691
(
R-HSA-9013423
)
|
MONDO:0008214 |
LBR |
Q14739 |
1.3.1.70
|
R-HSA-191273
R-HSA-9013106
R-HSA-2995383
R-HSA-2995383
Reactome Name: Initiation of Nuclear Envelope (NE) Reformation
See in Reactome
R-HSA-9022692
R-HSA-9022692
Reactome Name: Regulation of MECP2 expression and activity
See in Reactome
R-HSA-8980692
R-HSA-9013408
R-HSA-9013423
R-HSA-9013404
R-HSA-9013405
R-HSA-9013149
R-HSA-9013148
|
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-9012999
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-68886
R-HSA-212436
R-HSA-74160
R-HSA-194315
R-HSA-2995410
R-HSA-2995410
Reactome Name: Nuclear Envelope (NE) Reassembly
See in Reactome
R-HSA-556833
R-HSA-69278
R-HSA-1430728
R-HSA-68882
R-HSA-8986944
R-HSA-8986944
Reactome Name: Transcriptional Regulation by MECP2
See in Reactome
R-HSA-1640170
R-HSA-8957322
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
Cell Cycle
Signal Transduction
|
R-HSA-194674
(
R-HSA-191273
)
R-HSA-194674
Reaction Name: 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]
See in Reactome
R-HSA-9013004
(
R-HSA-8980692
)
R-HSA-9013004
Reaction Name: RHOA binds effectors at the ER membrane
See in Reactome
R-HSA-9013438
(
R-HSA-9013405
)
R-HSA-9013438
Reaction Name: RHOD binds effectors at the endosome membrane
See in Reactome
R-HSA-9014467
(
R-HSA-9013408
)
R-HSA-9014467
Reaction Name: RHOG binds effectors at the ER membrane
See in Reactome
R-HSA-9018594
(
R-HSA-9022692
)
R-HSA-9624798
(
R-HSA-2995383
)
R-HSA-9624800
(
R-HSA-2995383
)
R-HSA-9691174
(
R-HSA-9013149
)
R-HSA-9691174
Reaction Name: RAC1 binds effectors at the ER membrane
See in Reactome
R-HSA-9692809
(
R-HSA-9013148
)
R-HSA-9692809
Reaction Name: CDC42 binds effectors at the ER membrane
See in Reactome
R-HSA-9714361
(
R-HSA-9013106
)
R-HSA-9714361
Reaction Name: RHOC activates endoplasmic reticulum effectors
See in Reactome
R-HSA-9714481
(
R-HSA-9013404
)
R-HSA-9714481
Reaction Name: RAC2 binds effectors at the ER membrane
See in Reactome
R-HSA-9714691
(
R-HSA-9013423
)
|
MONDO:0018663 |
LBR |
Q14739 |
1.3.1.70
|
R-HSA-191273
R-HSA-9013106
R-HSA-2995383
R-HSA-2995383
Reactome Name: Initiation of Nuclear Envelope (NE) Reformation
See in Reactome
R-HSA-9022692
R-HSA-9022692
Reactome Name: Regulation of MECP2 expression and activity
See in Reactome
R-HSA-8980692
R-HSA-9013408
R-HSA-9013423
R-HSA-9013404
R-HSA-9013405
R-HSA-9013149
R-HSA-9013148
|
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-9012999
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-68886
R-HSA-212436
R-HSA-74160
R-HSA-194315
R-HSA-2995410
R-HSA-2995410
Reactome Name: Nuclear Envelope (NE) Reassembly
See in Reactome
R-HSA-556833
R-HSA-69278
R-HSA-1430728
R-HSA-68882
R-HSA-8986944
R-HSA-8986944
Reactome Name: Transcriptional Regulation by MECP2
See in Reactome
R-HSA-1640170
R-HSA-8957322
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
Cell Cycle
Signal Transduction
|
R-HSA-194674
(
R-HSA-191273
)
R-HSA-194674
Reaction Name: 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]
See in Reactome
R-HSA-9013004
(
R-HSA-8980692
)
R-HSA-9013004
Reaction Name: RHOA binds effectors at the ER membrane
See in Reactome
R-HSA-9013438
(
R-HSA-9013405
)
R-HSA-9013438
Reaction Name: RHOD binds effectors at the endosome membrane
See in Reactome
R-HSA-9014467
(
R-HSA-9013408
)
R-HSA-9014467
Reaction Name: RHOG binds effectors at the ER membrane
See in Reactome
R-HSA-9018594
(
R-HSA-9022692
)
R-HSA-9624798
(
R-HSA-2995383
)
R-HSA-9624800
(
R-HSA-2995383
)
R-HSA-9691174
(
R-HSA-9013149
)
R-HSA-9691174
Reaction Name: RAC1 binds effectors at the ER membrane
See in Reactome
R-HSA-9692809
(
R-HSA-9013148
)
R-HSA-9692809
Reaction Name: CDC42 binds effectors at the ER membrane
See in Reactome
R-HSA-9714361
(
R-HSA-9013106
)
R-HSA-9714361
Reaction Name: RHOC activates endoplasmic reticulum effectors
See in Reactome
R-HSA-9714481
(
R-HSA-9013404
)
R-HSA-9714481
Reaction Name: RAC2 binds effectors at the ER membrane
See in Reactome
R-HSA-9714691
(
R-HSA-9013423
)
|
MONDO:0008974 |
LBR |
Q14739 |
1.3.1.70
|
R-HSA-191273
R-HSA-9013106
R-HSA-2995383
R-HSA-2995383
Reactome Name: Initiation of Nuclear Envelope (NE) Reformation
See in Reactome
R-HSA-9022692
R-HSA-9022692
Reactome Name: Regulation of MECP2 expression and activity
See in Reactome
R-HSA-8980692
R-HSA-9013408
R-HSA-9013423
R-HSA-9013404
R-HSA-9013405
R-HSA-9013149
R-HSA-9013148
|
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-9012999
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-68886
R-HSA-212436
R-HSA-74160
R-HSA-194315
R-HSA-2995410
R-HSA-2995410
Reactome Name: Nuclear Envelope (NE) Reassembly
See in Reactome
R-HSA-556833
R-HSA-69278
R-HSA-1430728
R-HSA-68882
R-HSA-8986944
R-HSA-8986944
Reactome Name: Transcriptional Regulation by MECP2
See in Reactome
R-HSA-1640170
R-HSA-8957322
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
Cell Cycle
Signal Transduction
|
R-HSA-194674
(
R-HSA-191273
)
R-HSA-194674
Reaction Name: 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]
See in Reactome
R-HSA-9013004
(
R-HSA-8980692
)
R-HSA-9013004
Reaction Name: RHOA binds effectors at the ER membrane
See in Reactome
R-HSA-9013438
(
R-HSA-9013405
)
R-HSA-9013438
Reaction Name: RHOD binds effectors at the endosome membrane
See in Reactome
R-HSA-9014467
(
R-HSA-9013408
)
R-HSA-9014467
Reaction Name: RHOG binds effectors at the ER membrane
See in Reactome
R-HSA-9018594
(
R-HSA-9022692
)
R-HSA-9624798
(
R-HSA-2995383
)
R-HSA-9624800
(
R-HSA-2995383
)
R-HSA-9691174
(
R-HSA-9013149
)
R-HSA-9691174
Reaction Name: RAC1 binds effectors at the ER membrane
See in Reactome
R-HSA-9692809
(
R-HSA-9013148
)
R-HSA-9692809
Reaction Name: CDC42 binds effectors at the ER membrane
See in Reactome
R-HSA-9714361
(
R-HSA-9013106
)
R-HSA-9714361
Reaction Name: RHOC activates endoplasmic reticulum effectors
See in Reactome
R-HSA-9714481
(
R-HSA-9013404
)
R-HSA-9714481
Reaction Name: RAC2 binds effectors at the ER membrane
See in Reactome
R-HSA-9714691
(
R-HSA-9013423
)
|
MONDO:0013276 |
LBR |
Q14739 |
1.3.1.70
|
R-HSA-191273
R-HSA-9013106
R-HSA-2995383
R-HSA-2995383
Reactome Name: Initiation of Nuclear Envelope (NE) Reformation
See in Reactome
R-HSA-9022692
R-HSA-9022692
Reactome Name: Regulation of MECP2 expression and activity
See in Reactome
R-HSA-8980692
R-HSA-9013408
R-HSA-9013423
R-HSA-9013404
R-HSA-9013405
R-HSA-9013149
R-HSA-9013148
|
R-HSA-9716542
R-HSA-9716542
Reactome Name: Signaling by Rho GTPases, Miro GTPases and RHOBTB3
See in Reactome
R-HSA-9012999
R-HSA-2555396
R-HSA-2555396
Reactome Name: Mitotic Metaphase and Anaphase
See in Reactome
R-HSA-68886
R-HSA-212436
R-HSA-74160
R-HSA-194315
R-HSA-2995410
R-HSA-2995410
Reactome Name: Nuclear Envelope (NE) Reassembly
See in Reactome
R-HSA-556833
R-HSA-69278
R-HSA-1430728
R-HSA-68882
R-HSA-8986944
R-HSA-8986944
Reactome Name: Transcriptional Regulation by MECP2
See in Reactome
R-HSA-1640170
R-HSA-8957322
R-HSA-162582
R-HSA-73857
|
Gene expression (Transcription)
Metabolism
Cell Cycle
Signal Transduction
|
R-HSA-194674
(
R-HSA-191273
)
R-HSA-194674
Reaction Name: 4,4-dimethylcholesta-8(9),14,24-trien-3beta-ol is reduced to 4,4-dimethylcholesta-8(9),24-dien-3beta-ol [LBR]
See in Reactome
R-HSA-9013004
(
R-HSA-8980692
)
R-HSA-9013004
Reaction Name: RHOA binds effectors at the ER membrane
See in Reactome
R-HSA-9013438
(
R-HSA-9013405
)
R-HSA-9013438
Reaction Name: RHOD binds effectors at the endosome membrane
See in Reactome
R-HSA-9014467
(
R-HSA-9013408
)
R-HSA-9014467
Reaction Name: RHOG binds effectors at the ER membrane
See in Reactome
R-HSA-9018594
(
R-HSA-9022692
)
R-HSA-9624798
(
R-HSA-2995383
)
R-HSA-9624800
(
R-HSA-2995383
)
R-HSA-9691174
(
R-HSA-9013149
)
R-HSA-9691174
Reaction Name: RAC1 binds effectors at the ER membrane
See in Reactome
R-HSA-9692809
(
R-HSA-9013148
)
R-HSA-9692809
Reaction Name: CDC42 binds effectors at the ER membrane
See in Reactome
R-HSA-9714361
(
R-HSA-9013106
)
R-HSA-9714361
Reaction Name: RHOC activates endoplasmic reticulum effectors
See in Reactome
R-HSA-9714481
(
R-HSA-9013404
)
R-HSA-9714481
Reaction Name: RAC2 binds effectors at the ER membrane
See in Reactome
R-HSA-9714691
(
R-HSA-9013423
)
|