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
CYP27A1 |
Q02318 |
1.14.15.15
|
R-HSA-211976
R-HSA-193807
R-HSA-193807
Reactome Name: Synthesis of bile acids and bile salts via 27-hydroxycholesterol
See in Reactome
R-HSA-193368
R-HSA-193368
Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
See in Reactome
R-HSA-193775
R-HSA-193775
Reactome Name: Synthesis of bile acids and bile salts via 24-hydroxycholesterol
See in Reactome
|
R-HSA-194068
R-HSA-194068
Reactome Name: Bile acid and bile salt metabolism
See in Reactome
R-HSA-211859
R-HSA-211897
R-HSA-211897
Reactome Name: Cytochrome P450 - arranged by substrate type
See in Reactome
R-HSA-211945
R-HSA-211945
Reactome Name: Phase I - Functionalization of compounds
See in Reactome
R-HSA-1430728
R-HSA-192105
R-HSA-192105
Reactome Name: Synthesis of bile acids and bile salts
See in Reactome
R-HSA-556833
R-HSA-8957322
|
Metabolism
|
R-HSA-191999
(
R-HSA-193368
)
R-HSA-191999
Reaction Name: CYP27A1 27-hydroxylates 5bCHOL3a,7a,12a-triol
See in Reactome
R-HSA-192042
(
R-HSA-193368
)
R-HSA-192042
Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,27-tetrol is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-27-al
See in Reactome
R-HSA-192054
(
R-HSA-193368
)
R-HSA-192054
Reaction Name: 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoate (THCA)
See in Reactome
R-HSA-192123
(
R-HSA-193807;
R-HSA-211976
)
R-HSA-193393
(
R-HSA-193368
)
R-HSA-193393
Reaction Name: 5beta-cholestan-3alpha, 7alpha-diol is hydroxylated to 5beta-cholestan-3alpha, 7alpha, 26-triol
See in Reactome
R-HSA-193460
(
R-HSA-193368
)
R-HSA-193460
Reaction Name: 3alpha, 7alpha-dihydroxy-5beta-cholestan-26-al is oxidized to 3alpha, 7alpha-dihydroxy-5beta-cholestanoate (DHCA)
See in Reactome
R-HSA-193497
(
R-HSA-193368
)
R-HSA-193497
Reaction Name: 5beta-cholestan-3alpha, 7alpha, 26-triol is oxidized to 3alpha, 7alpha-dihydroxy-5beta-cholestan-26-al
See in Reactome
R-HSA-193713
(
R-HSA-193775
)
R-HSA-193713
Reaction Name: 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestanoate (TetraHCA)
See in Reactome
R-HSA-193719
(
R-HSA-193775
)
R-HSA-193719
Reaction Name: 5beta-cholestan-3alpha,7alpha,24(S),27-tetrol is oxidized to 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestan-27-al
See in Reactome
R-HSA-193737
(
R-HSA-193775
)
R-HSA-193737
Reaction Name: 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestanoate (3,7,24THCA)
See in Reactome
R-HSA-193780
(
R-HSA-193775
)
R-HSA-193780
Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,24(S),27-pentol is oxidized to 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestan-27-al
See in Reactome
R-HSA-193787
(
R-HSA-193775
)
R-HSA-193787
Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,24(S)-tetrol is hydroxylated to 5beta-cholestan-3alpha,7alpha,12alpha,24(S), 27-pentol
See in Reactome
R-HSA-193792
(
R-HSA-193775
)
R-HSA-193792
Reaction Name: CYP27A1 27-hydroxylates 5β-CHOL3α,7α,24(s)-triol
See in Reactome
|
MONDO:0008948 |
CYP27A1 |
Q02318 |
1.14.15.15
|
R-HSA-211976
R-HSA-193807
R-HSA-193807
Reactome Name: Synthesis of bile acids and bile salts via 27-hydroxycholesterol
See in Reactome
R-HSA-193368
R-HSA-193368
Reactome Name: Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
See in Reactome
R-HSA-193775
R-HSA-193775
Reactome Name: Synthesis of bile acids and bile salts via 24-hydroxycholesterol
See in Reactome
|
R-HSA-194068
R-HSA-194068
Reactome Name: Bile acid and bile salt metabolism
See in Reactome
R-HSA-211859
R-HSA-211897
R-HSA-211897
Reactome Name: Cytochrome P450 - arranged by substrate type
See in Reactome
R-HSA-211945
R-HSA-211945
Reactome Name: Phase I - Functionalization of compounds
See in Reactome
R-HSA-1430728
R-HSA-192105
R-HSA-192105
Reactome Name: Synthesis of bile acids and bile salts
See in Reactome
R-HSA-556833
R-HSA-8957322
|
Metabolism
|
R-HSA-191999
(
R-HSA-193368
)
R-HSA-191999
Reaction Name: CYP27A1 27-hydroxylates 5bCHOL3a,7a,12a-triol
See in Reactome
R-HSA-192042
(
R-HSA-193368
)
R-HSA-192042
Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,27-tetrol is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-27-al
See in Reactome
R-HSA-192054
(
R-HSA-193368
)
R-HSA-192054
Reaction Name: 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoate (THCA)
See in Reactome
R-HSA-192123
(
R-HSA-193807;
R-HSA-211976
)
R-HSA-193393
(
R-HSA-193368
)
R-HSA-193393
Reaction Name: 5beta-cholestan-3alpha, 7alpha-diol is hydroxylated to 5beta-cholestan-3alpha, 7alpha, 26-triol
See in Reactome
R-HSA-193460
(
R-HSA-193368
)
R-HSA-193460
Reaction Name: 3alpha, 7alpha-dihydroxy-5beta-cholestan-26-al is oxidized to 3alpha, 7alpha-dihydroxy-5beta-cholestanoate (DHCA)
See in Reactome
R-HSA-193497
(
R-HSA-193368
)
R-HSA-193497
Reaction Name: 5beta-cholestan-3alpha, 7alpha, 26-triol is oxidized to 3alpha, 7alpha-dihydroxy-5beta-cholestan-26-al
See in Reactome
R-HSA-193713
(
R-HSA-193775
)
R-HSA-193713
Reaction Name: 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestanoate (TetraHCA)
See in Reactome
R-HSA-193719
(
R-HSA-193775
)
R-HSA-193719
Reaction Name: 5beta-cholestan-3alpha,7alpha,24(S),27-tetrol is oxidized to 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestan-27-al
See in Reactome
R-HSA-193737
(
R-HSA-193775
)
R-HSA-193737
Reaction Name: 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestan-27-al is oxidized to 3alpha,7alpha,24(S)-trihydroxy-5beta-cholestanoate (3,7,24THCA)
See in Reactome
R-HSA-193780
(
R-HSA-193775
)
R-HSA-193780
Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,24(S),27-pentol is oxidized to 3alpha,7alpha,12alpha,24(S)-tetrahydroxy-5beta-cholestan-27-al
See in Reactome
R-HSA-193787
(
R-HSA-193775
)
R-HSA-193787
Reaction Name: 5beta-cholestan-3alpha,7alpha,12alpha,24(S)-tetrol is hydroxylated to 5beta-cholestan-3alpha,7alpha,12alpha,24(S), 27-pentol
See in Reactome
R-HSA-193792
(
R-HSA-193775
)
R-HSA-193792
Reaction Name: CYP27A1 27-hydroxylates 5β-CHOL3α,7α,24(s)-triol
See in Reactome
|