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:0009606 |
CYB5R3 |
P00387 |
1.6.2.2
|
R-HSA-6798695
R-HSA-211945
R-HSA-211945
Reactome Name: Phase I - Functionalization of compounds
See in Reactome
R-HSA-196836
R-HSA-196836
Reactome Name: Vitamin C (ascorbate) metabolism
See in Reactome
|
R-HSA-168256
R-HSA-211859
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-168249
R-HSA-1430728
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
|
Immune System
Metabolism
|
R-HSA-198824
(
R-HSA-196836
)
R-HSA-198824
Reaction Name: CYB5R3:FAD reduces CYB5A:ferriheme to CYB5A:heme
See in Reactome
R-HSA-6798751
(
R-HSA-6798695
)
R-HSA-6798751
Reaction Name: Exocytosis of azurophil granule lumen proteins
See in Reactome
R-HSA-8936442
(
R-HSA-211945
)
R-HSA-8936442
Reaction Name: MARC1,MARC2 reduce N-hydroxylated compounds
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: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
|