MONDO:0001149 |
MONDO:0001149
Disease Name: microcephaly
OMIM id: OMIM:612703
All associated enzymes in DAR:
DHCR7
UFSP2
PLA2G6
SLC2A1
RAG1
ALG13
DHX34
ATRX
SLC2A1 |
P11166 |
-
|
R-HSA-189200
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-196836
R-HSA-196836
Reactome Name: Vitamin C (ascorbate) metabolism
See in Reactome
R-HSA-5653890
|
R-HSA-71387
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-382551
R-HSA-1430728
R-HSA-425407
R-HSA-425407
Reactome Name: SLC-mediated transmembrane transport
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
|
Transport of small molecules
Metabolism
|
R-HSA-198818
(
R-HSA-196836
)
R-HSA-198818
Reaction Name: SLC2A1,3 transports DeHA from extracellular region to cytosol
See in Reactome
R-HSA-450088
(
R-HSA-189200
)
R-HSA-450092
(
R-HSA-189200
)
R-HSA-450092
Reaction Name: GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP
See in Reactome
R-HSA-499981
(
R-HSA-422356
)
R-HSA-499981
Reaction Name: Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2
See in Reactome
R-HSA-5339524
(
R-HSA-189200
)
R-HSA-5339524
Reaction Name: GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol
See in Reactome
R-HSA-5653873
(
R-HSA-5653890
)
R-HSA-5653873
Reaction Name: SLC2A1 tetramer transports Glc from cytosol to Golgi lumen
See in Reactome
|
MONDO:0007295 |
SLC2A1 |
P11166 |
-
|
R-HSA-189200
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-196836
R-HSA-196836
Reactome Name: Vitamin C (ascorbate) metabolism
See in Reactome
R-HSA-5653890
|
R-HSA-71387
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-382551
R-HSA-1430728
R-HSA-425407
R-HSA-425407
Reactome Name: SLC-mediated transmembrane transport
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
|
Transport of small molecules
Metabolism
|
R-HSA-198818
(
R-HSA-196836
)
R-HSA-198818
Reaction Name: SLC2A1,3 transports DeHA from extracellular region to cytosol
See in Reactome
R-HSA-450088
(
R-HSA-189200
)
R-HSA-450092
(
R-HSA-189200
)
R-HSA-450092
Reaction Name: GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP
See in Reactome
R-HSA-499981
(
R-HSA-422356
)
R-HSA-499981
Reaction Name: Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2
See in Reactome
R-HSA-5339524
(
R-HSA-189200
)
R-HSA-5339524
Reaction Name: GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol
See in Reactome
R-HSA-5653873
(
R-HSA-5653890
)
R-HSA-5653873
Reaction Name: SLC2A1 tetramer transports Glc from cytosol to Golgi lumen
See in Reactome
|
MONDO:0010826 |
SLC2A1 |
P11166 |
-
|
R-HSA-189200
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-196836
R-HSA-196836
Reactome Name: Vitamin C (ascorbate) metabolism
See in Reactome
R-HSA-5653890
|
R-HSA-71387
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-382551
R-HSA-1430728
R-HSA-425407
R-HSA-425407
Reactome Name: SLC-mediated transmembrane transport
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
|
Transport of small molecules
Metabolism
|
R-HSA-198818
(
R-HSA-196836
)
R-HSA-198818
Reaction Name: SLC2A1,3 transports DeHA from extracellular region to cytosol
See in Reactome
R-HSA-450088
(
R-HSA-189200
)
R-HSA-450092
(
R-HSA-189200
)
R-HSA-450092
Reaction Name: GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP
See in Reactome
R-HSA-499981
(
R-HSA-422356
)
R-HSA-499981
Reaction Name: Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2
See in Reactome
R-HSA-5339524
(
R-HSA-189200
)
R-HSA-5339524
Reaction Name: GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol
See in Reactome
R-HSA-5653873
(
R-HSA-5653890
)
R-HSA-5653873
Reaction Name: SLC2A1 tetramer transports Glc from cytosol to Golgi lumen
See in Reactome
|
MONDO:0010983 |
SLC2A1 |
P11166 |
-
|
R-HSA-189200
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-196836
R-HSA-196836
Reactome Name: Vitamin C (ascorbate) metabolism
See in Reactome
R-HSA-5653890
|
R-HSA-71387
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-382551
R-HSA-1430728
R-HSA-425407
R-HSA-425407
Reactome Name: SLC-mediated transmembrane transport
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
|
Transport of small molecules
Metabolism
|
R-HSA-198818
(
R-HSA-196836
)
R-HSA-198818
Reaction Name: SLC2A1,3 transports DeHA from extracellular region to cytosol
See in Reactome
R-HSA-450088
(
R-HSA-189200
)
R-HSA-450092
(
R-HSA-189200
)
R-HSA-450092
Reaction Name: GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP
See in Reactome
R-HSA-499981
(
R-HSA-422356
)
R-HSA-499981
Reaction Name: Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2
See in Reactome
R-HSA-5339524
(
R-HSA-189200
)
R-HSA-5339524
Reaction Name: GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol
See in Reactome
R-HSA-5653873
(
R-HSA-5653890
)
R-HSA-5653873
Reaction Name: SLC2A1 tetramer transports Glc from cytosol to Golgi lumen
See in Reactome
|
MONDO:0011724 |
SLC2A1 |
P11166 |
-
|
R-HSA-189200
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-196836
R-HSA-196836
Reactome Name: Vitamin C (ascorbate) metabolism
See in Reactome
R-HSA-5653890
|
R-HSA-71387
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-382551
R-HSA-1430728
R-HSA-425407
R-HSA-425407
Reactome Name: SLC-mediated transmembrane transport
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
|
Transport of small molecules
Metabolism
|
R-HSA-198818
(
R-HSA-196836
)
R-HSA-198818
Reaction Name: SLC2A1,3 transports DeHA from extracellular region to cytosol
See in Reactome
R-HSA-450088
(
R-HSA-189200
)
R-HSA-450092
(
R-HSA-189200
)
R-HSA-450092
Reaction Name: GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP
See in Reactome
R-HSA-499981
(
R-HSA-422356
)
R-HSA-499981
Reaction Name: Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2
See in Reactome
R-HSA-5339524
(
R-HSA-189200
)
R-HSA-5339524
Reaction Name: GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol
See in Reactome
R-HSA-5653873
(
R-HSA-5653890
)
R-HSA-5653873
Reaction Name: SLC2A1 tetramer transports Glc from cytosol to Golgi lumen
See in Reactome
|
MONDO:0011772 |
B4GALT1 |
P15291 |
2.4.1.90
2.4.1.-
2.4.1.275
2.4.1.38
2.4.1.22
|
R-HSA-2022854
R-HSA-5653890
R-HSA-6798695
R-HSA-1912420
R-HSA-2534343
R-HSA-2534343
Reactome Name: Interaction With Cumulus Cells And The Zona Pellucida
See in Reactome
R-HSA-975577
|
R-HSA-71387
R-HSA-1638074
R-HSA-1638074
Reactome Name: Keratan sulfate/keratin metabolism
See in Reactome
R-HSA-168249
R-HSA-168256
R-HSA-392499
R-HSA-157118
R-HSA-1187000
R-HSA-446203
R-HSA-446203
Reactome Name: Asparagine N-linked glycosylation
See in Reactome
R-HSA-1430728
R-HSA-1630316
R-HSA-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
R-HSA-948021
R-HSA-948021
Reactome Name: Transport to the Golgi and subsequent modification
See in Reactome
R-HSA-1474165
R-HSA-1912422
R-HSA-1912422
Reactome Name: Pre-NOTCH Expression and Processing
See in Reactome
R-HSA-162582
R-HSA-975576
R-HSA-975576
Reactome Name: N-glycan antennae elongation in the medial/trans-Golgi
See in Reactome
|
Immune System
Metabolism of proteins
Metabolism
Reproduction
Signal Transduction
|
R-HSA-1297338
(
R-HSA-2534343
)
R-HSA-1297338
Reaction Name: Association of ADAM and B4GALT1 With ZP3
See in Reactome
R-HSA-1912352
(
R-HSA-1912420
)
R-HSA-2025723
(
R-HSA-2022854
)
R-HSA-2025723
Reaction Name: B4GALTs transfer Gal to the N-glycan precursor
See in Reactome
R-HSA-2046265
(
R-HSA-2022854
)
R-HSA-2046265
Reaction Name: B4GALTs transfer Gal to the keratan chain
See in Reactome
R-HSA-2046298
(
R-HSA-2022854
)
R-HSA-2046298
Reaction Name: B4GALTs transfer Gal to a branch of keratan
See in Reactome
R-HSA-5653878
(
R-HSA-5653890
)
R-HSA-5653878
Reaction Name: B4GALT1:LALBA transfers Gal from UDP-Gal to Glc to form Lac
See in Reactome
R-HSA-5653886
(
R-HSA-5653890
)
R-HSA-6798739
(
R-HSA-6798695
)
R-HSA-6798739
Reaction Name: Exocytosis of azurophil granule membrane proteins
See in Reactome
R-HSA-6798743
(
R-HSA-6798695
)
R-HSA-6798743
Reaction Name: Exocytosis of secretory granule membrane proteins
See in Reactome
R-HSA-975919
(
R-HSA-975577
)
R-HSA-975919
Reaction Name: Addition of galactose by beta 4-galactosyltransferases
See in Reactome
|
MONDO:0012143 |
SLC2A1 |
P11166 |
-
|
R-HSA-189200
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-196836
R-HSA-196836
Reactome Name: Vitamin C (ascorbate) metabolism
See in Reactome
R-HSA-5653890
|
R-HSA-71387
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-382551
R-HSA-1430728
R-HSA-425407
R-HSA-425407
Reactome Name: SLC-mediated transmembrane transport
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
|
Transport of small molecules
Metabolism
|
R-HSA-198818
(
R-HSA-196836
)
R-HSA-198818
Reaction Name: SLC2A1,3 transports DeHA from extracellular region to cytosol
See in Reactome
R-HSA-450088
(
R-HSA-189200
)
R-HSA-450092
(
R-HSA-189200
)
R-HSA-450092
Reaction Name: GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP
See in Reactome
R-HSA-499981
(
R-HSA-422356
)
R-HSA-499981
Reaction Name: Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2
See in Reactome
R-HSA-5339524
(
R-HSA-189200
)
R-HSA-5339524
Reaction Name: GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol
See in Reactome
R-HSA-5653873
(
R-HSA-5653890
)
R-HSA-5653873
Reaction Name: SLC2A1 tetramer transports Glc from cytosol to Golgi lumen
See in Reactome
|
MONDO:0012805 |
SLC2A1 |
P11166 |
-
|
R-HSA-189200
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-196836
R-HSA-196836
Reactome Name: Vitamin C (ascorbate) metabolism
See in Reactome
R-HSA-5653890
|
R-HSA-71387
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-382551
R-HSA-1430728
R-HSA-425407
R-HSA-425407
Reactome Name: SLC-mediated transmembrane transport
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
|
Transport of small molecules
Metabolism
|
R-HSA-198818
(
R-HSA-196836
)
R-HSA-198818
Reaction Name: SLC2A1,3 transports DeHA from extracellular region to cytosol
See in Reactome
R-HSA-450088
(
R-HSA-189200
)
R-HSA-450092
(
R-HSA-189200
)
R-HSA-450092
Reaction Name: GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP
See in Reactome
R-HSA-499981
(
R-HSA-422356
)
R-HSA-499981
Reaction Name: Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2
See in Reactome
R-HSA-5339524
(
R-HSA-189200
)
R-HSA-5339524
Reaction Name: GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol
See in Reactome
R-HSA-5653873
(
R-HSA-5653890
)
R-HSA-5653873
Reaction Name: SLC2A1 tetramer transports Glc from cytosol to Golgi lumen
See in Reactome
|
MONDO:0013919 |
SLC2A1 |
P11166 |
-
|
R-HSA-189200
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-196836
R-HSA-196836
Reactome Name: Vitamin C (ascorbate) metabolism
See in Reactome
R-HSA-5653890
|
R-HSA-71387
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-382551
R-HSA-1430728
R-HSA-425407
R-HSA-425407
Reactome Name: SLC-mediated transmembrane transport
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
|
Transport of small molecules
Metabolism
|
R-HSA-198818
(
R-HSA-196836
)
R-HSA-198818
Reaction Name: SLC2A1,3 transports DeHA from extracellular region to cytosol
See in Reactome
R-HSA-450088
(
R-HSA-189200
)
R-HSA-450092
(
R-HSA-189200
)
R-HSA-450092
Reaction Name: GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP
See in Reactome
R-HSA-499981
(
R-HSA-422356
)
R-HSA-499981
Reaction Name: Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2
See in Reactome
R-HSA-5339524
(
R-HSA-189200
)
R-HSA-5339524
Reaction Name: GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol
See in Reactome
R-HSA-5653873
(
R-HSA-5653890
)
R-HSA-5653873
Reaction Name: SLC2A1 tetramer transports Glc from cytosol to Golgi lumen
See in Reactome
|
MONDO:0016025 |
SLC2A1 |
P11166 |
-
|
R-HSA-189200
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-196836
R-HSA-196836
Reactome Name: Vitamin C (ascorbate) metabolism
See in Reactome
R-HSA-5653890
|
R-HSA-71387
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-382551
R-HSA-1430728
R-HSA-425407
R-HSA-425407
Reactome Name: SLC-mediated transmembrane transport
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
|
Transport of small molecules
Metabolism
|
R-HSA-198818
(
R-HSA-196836
)
R-HSA-198818
Reaction Name: SLC2A1,3 transports DeHA from extracellular region to cytosol
See in Reactome
R-HSA-450088
(
R-HSA-189200
)
R-HSA-450092
(
R-HSA-189200
)
R-HSA-450092
Reaction Name: GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP
See in Reactome
R-HSA-499981
(
R-HSA-422356
)
R-HSA-499981
Reaction Name: Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2
See in Reactome
R-HSA-5339524
(
R-HSA-189200
)
R-HSA-5339524
Reaction Name: GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol
See in Reactome
R-HSA-5653873
(
R-HSA-5653890
)
R-HSA-5653873
Reaction Name: SLC2A1 tetramer transports Glc from cytosol to Golgi lumen
See in Reactome
|
MONDO:0019487 |
SLC2A1 |
P11166 |
-
|
R-HSA-189200
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-196836
R-HSA-196836
Reactome Name: Vitamin C (ascorbate) metabolism
See in Reactome
R-HSA-5653890
|
R-HSA-71387
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-382551
R-HSA-1430728
R-HSA-425407
R-HSA-425407
Reactome Name: SLC-mediated transmembrane transport
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
|
Transport of small molecules
Metabolism
|
R-HSA-198818
(
R-HSA-196836
)
R-HSA-198818
Reaction Name: SLC2A1,3 transports DeHA from extracellular region to cytosol
See in Reactome
R-HSA-450088
(
R-HSA-189200
)
R-HSA-450092
(
R-HSA-189200
)
R-HSA-450092
Reaction Name: GLUT1:ATP tetramer dissociates to GLUT1 tetramer and 4xATP
See in Reactome
R-HSA-499981
(
R-HSA-422356
)
R-HSA-499981
Reaction Name: Transport of Extracellular Glucose to the Cytosol by GLUT1 and GLUT2
See in Reactome
R-HSA-5339524
(
R-HSA-189200
)
R-HSA-5339524
Reaction Name: GLUT1 (SLC2A1) tetramer transports Glc from extracellular region to cytosol
See in Reactome
R-HSA-5653873
(
R-HSA-5653890
)
R-HSA-5653873
Reaction Name: SLC2A1 tetramer transports Glc from cytosol to Golgi lumen
See in Reactome
|