MONDO:0001149 |
MONDO:0001149
Disease Name: microcephaly
OMIM id: OMIM:612703
All associated enzymes in DAR:
DHCR7
UFSP2
PLA2G6
SLC2A1
RAG1
ALG13
DHX34
ATRX
DHCR7 |
Q9UBM7 |
1.3.1.21
|
R-HSA-6807062
R-HSA-6807062
Reactome Name: Cholesterol biosynthesis via lathosterol
See in Reactome
R-HSA-2426168
R-HSA-2426168
Reactome Name: Activation of gene expression by SREBF (SREBP)
See in Reactome
R-HSA-6807047
R-HSA-6807047
Reactome Name: Cholesterol biosynthesis via desmosterol
See in Reactome
|
R-HSA-556833
R-HSA-1655829
R-HSA-1655829
Reactome Name: Regulation of cholesterol biosynthesis by SREBP (SREBF)
See in Reactome
R-HSA-191273
R-HSA-1430728
R-HSA-8957322
|
Metabolism
|
R-HSA-1655827
(
R-HSA-2426168
)
R-HSA-1655827
Reaction Name: Expression of 7-Dehydrocholesterol Reductase (DHCR7)
See in Reactome
R-HSA-196402
(
R-HSA-6807047
)
R-HSA-196402
Reaction Name: Cholesta-5,7,24-trien-3beta-ol is reduced to desmosterol
See in Reactome
R-HSA-6807055
(
R-HSA-6807062
)
R-HSA-6807055
Reaction Name: DHCR7 reduces 7-dehydroCHOL to CHOL
See in Reactome
|
MONDO:0010035 |
DHCR7 |
Q9UBM7 |
1.3.1.21
|
R-HSA-6807062
R-HSA-6807062
Reactome Name: Cholesterol biosynthesis via lathosterol
See in Reactome
R-HSA-2426168
R-HSA-2426168
Reactome Name: Activation of gene expression by SREBF (SREBP)
See in Reactome
R-HSA-6807047
R-HSA-6807047
Reactome Name: Cholesterol biosynthesis via desmosterol
See in Reactome
|
R-HSA-556833
R-HSA-1655829
R-HSA-1655829
Reactome Name: Regulation of cholesterol biosynthesis by SREBP (SREBF)
See in Reactome
R-HSA-191273
R-HSA-1430728
R-HSA-8957322
|
Metabolism
|
R-HSA-1655827
(
R-HSA-2426168
)
R-HSA-1655827
Reaction Name: Expression of 7-Dehydrocholesterol Reductase (DHCR7)
See in Reactome
R-HSA-196402
(
R-HSA-6807047
)
R-HSA-196402
Reaction Name: Cholesta-5,7,24-trien-3beta-ol is reduced to desmosterol
See in Reactome
R-HSA-6807055
(
R-HSA-6807062
)
R-HSA-6807055
Reaction Name: DHCR7 reduces 7-dehydroCHOL to CHOL
See in Reactome
|
MONDO:0010498 |
EBP |
Q15125 |
5.3.3.5
|
R-HSA-6807062
R-HSA-6807062
Reactome Name: Cholesterol biosynthesis via lathosterol
See in Reactome
R-HSA-6807047
R-HSA-6807047
Reactome Name: Cholesterol biosynthesis via desmosterol
See in Reactome
|
R-HSA-556833
R-HSA-191273
R-HSA-1430728
R-HSA-8957322
|
Metabolism
|
R-HSA-195690
(
R-HSA-6807047
)
R-HSA-195690
Reaction Name: Zymosterol is isomerized to cholesta-7,24-dien-3beta-ol
See in Reactome
R-HSA-6807052
(
R-HSA-6807062
)
R-HSA-6807052
Reaction Name: EBP isomerizes ZYMSTNL to LTHSOL
See in Reactome
|
MONDO:0011217 |
DHCR24 |
Q15392 |
1.3.1.72
|
R-HSA-6807062
R-HSA-6807062
Reactome Name: Cholesterol biosynthesis via lathosterol
See in Reactome
R-HSA-6807047
R-HSA-6807047
Reactome Name: Cholesterol biosynthesis via desmosterol
See in Reactome
|
R-HSA-556833
R-HSA-191273
R-HSA-1430728
R-HSA-8957322
|
Metabolism
|
R-HSA-196417
(
R-HSA-6807047
)
R-HSA-196417
Reaction Name: Reduction of desmosterol to cholesterol
See in Reactome
R-HSA-6807064
(
R-HSA-6807062
)
R-HSA-6807064
Reaction Name: DHCR24 reduces ZYMOL to ZYMSTNL
See in Reactome
R-HSA-9755937
()
R-HSA-9755937
Reaction Name: DHCR24 reduces LAN to 24,25-dhLAN
See in Reactome
|
MONDO:0011816 |
SC5D |
O75845 |
1.14.19.20
|
R-HSA-6807062
R-HSA-6807062
Reactome Name: Cholesterol biosynthesis via lathosterol
See in Reactome
R-HSA-2426168
R-HSA-2426168
Reactome Name: Activation of gene expression by SREBF (SREBP)
See in Reactome
R-HSA-6807047
R-HSA-6807047
Reactome Name: Cholesterol biosynthesis via desmosterol
See in Reactome
|
R-HSA-556833
R-HSA-1655829
R-HSA-1655829
Reactome Name: Regulation of cholesterol biosynthesis by SREBP (SREBF)
See in Reactome
R-HSA-191273
R-HSA-1430728
R-HSA-8957322
|
Metabolism
|
R-HSA-1655852
(
R-HSA-2426168
)
R-HSA-1655852
Reaction Name: Expression of Lathosterol Oxidase (SC5D, SC5DL)
See in Reactome
R-HSA-195664
(
R-HSA-6807047
)
R-HSA-195664
Reaction Name: Cholesta-7,24-dien-3beta-ol is desaturated to form cholesta-5,7,24-trien-3beta-ol
See in Reactome
R-HSA-6807053
(
R-HSA-6807062
)
R-HSA-6807053
Reaction Name: SC5D desaturates LTHSOL to 7-dehydroCHOL
See in Reactome
|
MONDO:0020603 |
EBP |
Q15125 |
5.3.3.5
|
R-HSA-6807062
R-HSA-6807062
Reactome Name: Cholesterol biosynthesis via lathosterol
See in Reactome
R-HSA-6807047
R-HSA-6807047
Reactome Name: Cholesterol biosynthesis via desmosterol
See in Reactome
|
R-HSA-556833
R-HSA-191273
R-HSA-1430728
R-HSA-8957322
|
Metabolism
|
R-HSA-195690
(
R-HSA-6807047
)
R-HSA-195690
Reaction Name: Zymosterol is isomerized to cholesta-7,24-dien-3beta-ol
See in Reactome
R-HSA-6807052
(
R-HSA-6807062
)
R-HSA-6807052
Reaction Name: EBP isomerizes ZYMSTNL to LTHSOL
See in Reactome
|
MONDO:0026782 |
EBP |
Q15125 |
5.3.3.5
|
R-HSA-6807062
R-HSA-6807062
Reactome Name: Cholesterol biosynthesis via lathosterol
See in Reactome
R-HSA-6807047
R-HSA-6807047
Reactome Name: Cholesterol biosynthesis via desmosterol
See in Reactome
|
R-HSA-556833
R-HSA-191273
R-HSA-1430728
R-HSA-8957322
|
Metabolism
|
R-HSA-195690
(
R-HSA-6807047
)
R-HSA-195690
Reaction Name: Zymosterol is isomerized to cholesta-7,24-dien-3beta-ol
See in Reactome
R-HSA-6807052
(
R-HSA-6807062
)
R-HSA-6807052
Reaction Name: EBP isomerizes ZYMSTNL to LTHSOL
See in Reactome
|