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:0007781 |
PTGIS |
Q16647 |
4.2.1.152
5.3.99.4
|
R-HSA-197264
R-HSA-193807
R-HSA-193807
Reactome Name: Synthesis of bile acids and bile salts via 27-hydroxycholesterol
See in Reactome
R-HSA-211994
R-HSA-211994
Reactome Name: Sterols are 12-hydroxylated by CYP8B1
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-2162123
R-HSA-2162123
Reactome Name: Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
See in Reactome
R-HSA-211979
|
R-HSA-196807
R-HSA-211897
R-HSA-211897
Reactome Name: Cytochrome P450 - arranged by substrate type
See in Reactome
R-HSA-211859
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-194068
R-HSA-194068
Reactome Name: Bile acid and bile salt metabolism
See in Reactome
R-HSA-211945
R-HSA-211945
Reactome Name: Phase I - Functionalization of compounds
See in Reactome
R-HSA-211976
R-HSA-8978868
R-HSA-192105
R-HSA-192105
Reactome Name: Synthesis of bile acids and bile salts
See in Reactome
R-HSA-2142753
R-HSA-556833
R-HSA-1430728
R-HSA-196849
R-HSA-196849
Reactome Name: Metabolism of water-soluble vitamins and cofactors
See in Reactome
R-HSA-8957322
|
Metabolism
|
R-HSA-192157
(
R-HSA-193368;
R-HSA-211994
)
R-HSA-192157
Reaction Name: CYP8B1 12-hydroxylates 4CHOL7aOLONE
See in Reactome
R-HSA-193709
(
R-HSA-193775;
R-HSA-211994
)
R-HSA-193709
Reaction Name: CYP8B1 12-hydroxylates 4CHOL7a,24(S)DIOL
See in Reactome
R-HSA-193845
(
R-HSA-193807;
R-HSA-211994
)
R-HSA-193845
Reaction Name: CYP8B1 12-hydroxylates 4CHOL7a,27DONE
See in Reactome
R-HSA-76496
(
R-HSA-197264;
R-HSA-211979;
R-HSA-2162123
)
R-HSA-76496
Reaction Name: PTGIS, CYP8A1 isomerise PGH2 to PGI2
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
|
MONDO:0008967 |
AMACR |
Q9UHK6 |
5.1.99.4
|
R-HSA-9033241
R-HSA-389887
R-HSA-389887
Reactome Name: Beta-oxidation of pristanoyl-CoA
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-9609507
R-HSA-390918
R-HSA-1430728
R-HSA-8978868
R-HSA-192105
R-HSA-192105
Reactome Name: Synthesis of bile acids and bile salts
See in Reactome
R-HSA-556833
R-HSA-8957322
|
Protein localization
Metabolism
|
R-HSA-192056
(
R-HSA-193368
)
R-HSA-192056
Reaction Name: Isomerization of 25(R) THCA-CoA to 25(S) THCA-CoA
See in Reactome
R-HSA-193452
(
R-HSA-193368
)
R-HSA-193452
Reaction Name: Isomerization of 25(R) DHCA-CoA to 25(S) DHCA-CoA
See in Reactome
R-HSA-193736
(
R-HSA-193775
)
R-HSA-193736
Reaction Name: Isomerization of 3,7,24THCA-CoA to (24R, 25R) 3alpha,7alpha,24-trihydroxy-5beta-cholestanoyl-CoA
See in Reactome
R-HSA-193763
(
R-HSA-193775
)
R-HSA-193763
Reaction Name: Isomerization of 25(R) TetraHCA-CoA to (24R, 25R) 3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestanoyl-CoA
See in Reactome
R-HSA-389897
(
R-HSA-389887
)
R-HSA-389897
Reaction Name: Isomerization of (2R)-pristanoyl-CoA to (2S)-pristanoyl-CoA
See in Reactome
R-HSA-9033233
(
R-HSA-9033241
)
R-HSA-9033233
(
R-HSA-9033241
)
R-HSA-9033233
Reaction Name: PEX5S,L binds cargo proteins containing PTS1
See in Reactome
R-HSA-9033235
(
R-HSA-9033241
)
R-HSA-9033235
(
R-HSA-9033241
)
R-HSA-9033235
Reaction Name: Cargo of PEX5S,L translocates from the cytosol to the peroxisomal matrix
See in Reactome
R-HSA-9033236
(
R-HSA-9033241
)
R-HSA-9033236
(
R-HSA-9033241
)
R-HSA-9033236
Reaction Name: PEX5S,L:Cargo binds PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Module)
See in Reactome
|
MONDO:0009339 |
AKR1D1 |
P51857 |
1.3.1.3
|
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-556833
R-HSA-194068
R-HSA-194068
Reactome Name: Bile acid and bile salt metabolism
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-8957322
|
Metabolism
|
R-HSA-192033
(
R-HSA-193368
)
R-HSA-192033
Reaction Name: 4-cholesten-7alpha-ol-3-one is reduced to 5beta-cholestan-7alpha-ol-3-one
See in Reactome
R-HSA-192067
(
R-HSA-193368
)
R-HSA-192067
Reaction Name: 4-cholesten-7alpha, 12alpha-diol-3-one is reduced to 5beta-cholesten-7alpha, 12alpha-diol-3-one
See in Reactome
R-HSA-193746
(
R-HSA-193775
)
R-HSA-193746
Reaction Name: 4-cholesten-7alpha,24(S)-diol-3-one is reduced to 5beta-cholestan-7alpha,24(S)-diol-3-one
See in Reactome
R-HSA-193755
(
R-HSA-193775
)
R-HSA-193755
Reaction Name: 4-cholesten-7alpha,12alpha,24(S)-triol-3-one is reduced to 5beta-cholestan-7alpha,12alpha,24(S)-triol-3-one
See in Reactome
R-HSA-193821
(
R-HSA-193807
)
R-HSA-193821
Reaction Name: 4-cholesten-7alpha,12alpha,27-triol-3-one is reduced to 5beta-cholestan-7alpha,12alpha,27-triol-3-one
See in Reactome
R-HSA-193824
(
R-HSA-193807
)
R-HSA-193824
Reaction Name: 4-cholesten-7alpha,27-diol-3-one is reduced to 5beta-cholestan-7alpha,27-diol-3-one
See in Reactome
|
MONDO:0011906 |
HSD3B7 |
Q9H2F3 |
1.1.1.-
1.1.1.181
|
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-556833
R-HSA-194068
R-HSA-194068
Reactome Name: Bile acid and bile salt metabolism
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-8957322
|
Metabolism
|
R-HSA-192097
(
R-HSA-193368
)
R-HSA-192097
Reaction Name: 7alpha-hydroxycholesterol is oxidized and isomerized to 4-cholesten-7alpha-ol-3-one
See in Reactome
R-HSA-193789
(
R-HSA-193775
)
R-HSA-193789
Reaction Name: Cholest-5-ene-3beta,7alpha,24(S)-triol is oxidized and isomerized to 4-cholesten-7alpha,24(S)-diol-3-one
See in Reactome
R-HSA-193816
(
R-HSA-193807
)
R-HSA-193816
Reaction Name: Cholest-5-ene-3beta,7alpha,27-triol is oxidized and isomerized to 4-cholesten-7alpha,27-diol-3-one
See in Reactome
|
MONDO:0013664 |
AKR1C4 |
P17516 |
1.1.1.62
1.1.1.-
1.1.1.357
1.1.1.209
1.1.1.53
1.1.1.51
1.1.1.225
1.1.1.210
|
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-975634
R-HSA-975634
Reactome Name: Retinoid metabolism and transport
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-2187338
R-HSA-6806667
R-HSA-6806667
Reactome Name: Metabolism of fat-soluble vitamins
See in Reactome
R-HSA-196854
R-HSA-196854
Reactome Name: Metabolism of vitamins and cofactors
See in Reactome
R-HSA-9709957
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
|
Sensory Perception
Metabolism
|
R-HSA-192036
(
R-HSA-193368
)
R-HSA-192036
Reaction Name: 5Beta-cholesten-7alpha, 12alpha-diol-3-one is reduced to 5beta-cholestan-3alpha, 7alpha, 12alpha-triol
See in Reactome
R-HSA-192160
(
R-HSA-193368
)
R-HSA-192160
Reaction Name: 5beta-cholestan-7alpha-ol-3-one is reduced to 5beta-cholestan-3alpha, 7alpha-diol
See in Reactome
R-HSA-193758
(
R-HSA-193775
)
R-HSA-193758
Reaction Name: 5beta-cholestan-7alpha,24(S)-diol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,24(S)-triol
See in Reactome
R-HSA-193781
(
R-HSA-193775
)
R-HSA-193781
Reaction Name: 5Beta-cholestan-7alpha,12alpha,24(S)-triol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,12alpha,24(S)-tetrol
See in Reactome
R-HSA-193800
(
R-HSA-193807
)
R-HSA-193800
Reaction Name: 5Beta-cholestan-7alpha,12alpha,27-triol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,12alpha,27-tetrol
See in Reactome
R-HSA-193841
(
R-HSA-193807
)
R-HSA-193841
Reaction Name: 5beta-cholestan-7alpha,27-diol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,27-triol
See in Reactome
R-HSA-2855252
(
R-HSA-975634
)
R-HSA-2855252
Reaction Name: AKRs reduce RBP2:atRAL to RBP2:atROL
See in Reactome
|
MONDO:0013664 |
AKR1C2 |
P52895 |
1.3.1.20
1.1.1.62
1.1.1.357
1.1.1.112
1.-.-.-
1.1.1.209
1.1.1.53
|
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-556833
R-HSA-194068
R-HSA-194068
Reactome Name: Bile acid and bile salt metabolism
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-8957322
|
Metabolism
|
R-HSA-192036
(
R-HSA-193368
)
R-HSA-192036
Reaction Name: 5Beta-cholesten-7alpha, 12alpha-diol-3-one is reduced to 5beta-cholestan-3alpha, 7alpha, 12alpha-triol
See in Reactome
R-HSA-192160
(
R-HSA-193368
)
R-HSA-192160
Reaction Name: 5beta-cholestan-7alpha-ol-3-one is reduced to 5beta-cholestan-3alpha, 7alpha-diol
See in Reactome
R-HSA-193758
(
R-HSA-193775
)
R-HSA-193758
Reaction Name: 5beta-cholestan-7alpha,24(S)-diol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,24(S)-triol
See in Reactome
R-HSA-193781
(
R-HSA-193775
)
R-HSA-193781
Reaction Name: 5Beta-cholestan-7alpha,12alpha,24(S)-triol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,12alpha,24(S)-tetrol
See in Reactome
R-HSA-193800
(
R-HSA-193807
)
R-HSA-193800
Reaction Name: 5Beta-cholestan-7alpha,12alpha,27-triol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,12alpha,27-tetrol
See in Reactome
R-HSA-193841
(
R-HSA-193807
)
R-HSA-193841
Reaction Name: 5beta-cholestan-7alpha,27-diol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,27-triol
See in Reactome
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