SMP0028534
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Cardiolipin Biosynthesis CL(18:1(11Z)/18:0/22:5(7Z,10Z,13Z,16Z,19Z)/22:5(7Z,10Z,13Z,16Z,19Z))
Homo sapiens
Matched Description: enzyme glycerol-3-phosphate acyltransferase esterifies an acyl-group to the sn-1 position of sn … -glycerol 3-phosphate to form 1-acyl-sn-glycerol 3-phosphate (lysophosphatidic acid or LPA). Third, the … enzyme 1-acyl-sn-glycerol-3-phosphate acyltransferase converts LPA into phosphatidic acid (PA or 1,2
Matched Compounds: LysoPA(18:1(11Z)/0:0) … PA(18:1(11Z)/18:0) … CDP-DG(18:1(11Z)/18:0) … PGP(18:1(11Z)/18:0) … PG(18:1(11Z)/18:0)
Matched Proteins: Glycerol-3-phosphate acyltransferase 1, mitochondrial … 1-Acyl-sn-glycerol-3-phosphate acyltransferase epsilon … Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1
Matched Protein Synonyms: GPAT-1 … 1-AGP acyltransferase 5 … 1-AGPAT 5 … 1-acylglycerol-3-phosphate O-acyltransferase 5 … PGP synthase 1
Matched Compound Synonyms: 1-hydroxy-3-(phosphonooxy)-2-propanone … 1-hydroxy-3-(phosphonooxy)acetone … 1,3-dihydroxyacetone 1-phosphoric acid … 3-carbamoyl-1-beta-d-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate inner salt … 3-carbamoyl-1-beta-delta-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate inner salt
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SMP0027516
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Cardiolipin Biosynthesis CL(16:1(9Z)/16:0/22:5(4Z,7Z,10Z,13Z,16Z)/22:5(4Z,7Z,10Z,13Z,16Z))
Homo sapiens
Matched Description: enzyme glycerol-3-phosphate acyltransferase esterifies an acyl-group to the sn-1 position of sn … -glycerol 3-phosphate to form 1-acyl-sn-glycerol 3-phosphate (lysophosphatidic acid or LPA). Third, the … enzyme 1-acyl-sn-glycerol-3-phosphate acyltransferase converts LPA into phosphatidic acid (PA or 1,2
Matched Compounds: LysoPA(16:1(9Z)/0:0) … PA(16:1(9Z)/16:0) … CDP-DG(16:1(9Z)/16:0) … PGP(16:1(9Z)/16:0) … PG(16:1(9Z)/16:0)
Matched Proteins: Glycerol-3-phosphate acyltransferase 1, mitochondrial … 1-Acyl-sn-glycerol-3-phosphate acyltransferase epsilon … Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1
Matched Protein Synonyms: GPAT-1 … 1-AGP acyltransferase 5 … 1-AGPAT 5 … 1-acylglycerol-3-phosphate O-acyltransferase 5 … PGP synthase 1
Matched Compound Synonyms: 1-hydroxy-3-(phosphonooxy)-2-propanone … 1-hydroxy-3-(phosphonooxy)acetone … 1,3-dihydroxyacetone 1-phosphoric acid … 3-carbamoyl-1-beta-d-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate inner salt … 3-carbamoyl-1-beta-delta-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate inner salt
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SMP0027521
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Cardiolipin Biosynthesis CL(16:1(9Z)/16:0/22:5(7Z,10Z,13Z,16Z,19Z)/22:5(7Z,10Z,13Z,16Z,19Z))
Homo sapiens
Matched Description: enzyme glycerol-3-phosphate acyltransferase esterifies an acyl-group to the sn-1 position of sn … -glycerol 3-phosphate to form 1-acyl-sn-glycerol 3-phosphate (lysophosphatidic acid or LPA). Third, the … enzyme 1-acyl-sn-glycerol-3-phosphate acyltransferase converts LPA into phosphatidic acid (PA or 1,2
Matched Compounds: LysoPA(16:1(9Z)/0:0) … PA(16:1(9Z)/16:0) … CDP-DG(16:1(9Z)/16:0) … PGP(16:1(9Z)/16:0) … PG(16:1(9Z)/16:0)
Matched Proteins: Glycerol-3-phosphate acyltransferase 1, mitochondrial … 1-Acyl-sn-glycerol-3-phosphate acyltransferase epsilon … Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1
Matched Protein Synonyms: GPAT-1 … 1-AGP acyltransferase 5 … 1-AGPAT 5 … 1-acylglycerol-3-phosphate O-acyltransferase 5 … PGP synthase 1
Matched Compound Synonyms: 1-hydroxy-3-(phosphonooxy)-2-propanone … 1-hydroxy-3-(phosphonooxy)acetone … 1,3-dihydroxyacetone 1-phosphoric acid … 3-carbamoyl-1-beta-d-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate inner salt … 3-carbamoyl-1-beta-delta-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate inner salt
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SMP0000718
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3-beta-Hydroxysteroid Dehydrogenase Deficiency
Homo sapiens
Matched Description: affects less than 1 in 1,000,000 individuals, with around 60 cases reported.
Matched Proteins: Aldo-keto reductase family 1 member C4 … Corticosteroid 11-beta-dehydrogenase isozyme 1 … 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1
Matched Protein Synonyms: Aldo-keto reductase family 1 member D1 … 11-beta-hydroxysteroid dehydrogenase 1 … Aldo-keto reductase family 1 member D1 … Aldo-keto reductase family 1 member D1 … Aldo-keto reductase family 1 member D1
Matched Compound Synonyms: 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-d-ribofuranosyl-3-pyridinecarboxamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide … 11-hydroxy-17-(2-hydroxyacetyl)-10-methyl-3-oxo-1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-13-carbaldehyde … 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-d-ribofuranosylnicotinamide
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SMP0000575
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11-beta-Hydroxylase Deficiency (CYP11B1)
Homo sapiens
Matched Description: menstrual cycle. It is estimated that 11-beta-hydroxylase deficiency affects 1 in 100,000 to 200,000 newborns.
Matched Proteins: Aldo-keto reductase family 1 member C4 … Corticosteroid 11-beta-dehydrogenase isozyme 1 … 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1
Matched Protein Synonyms: Aldo-keto reductase family 1 member D1 … 11-beta-hydroxysteroid dehydrogenase 1 … Aldo-keto reductase family 1 member D1 … Aldo-keto reductase family 1 member D1 … Aldo-keto reductase family 1 member D1
Matched Compound Synonyms: 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-d-ribofuranosyl-3-pyridinecarboxamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide … 11-hydroxy-17-(2-hydroxyacetyl)-10-methyl-3-oxo-1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-13-carbaldehyde … 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-d-ribofuranosylnicotinamide
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SMP0120859
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21-Hydroxylase Deficiency (CYP21)
Rattus norvegicus
Matched Proteins: Corticosteroid 11-beta-dehydrogenase isozyme 1
Matched Compound Synonyms: 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-d-ribofuranosyl-3-pyridinecarboxamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide … 11-hydroxy-17-(2-hydroxyacetyl)-10-methyl-3-oxo-1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-13-carbaldehyde … 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-d-ribofuranosylnicotinamide
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SMP0120630
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17-alpha-Hydroxylase Deficiency (CYP17)
Mus musculus
Matched Description: blood potassium levels. It is estimated that 17-alpha-hydroxylase deficiency affects 1 in 1,000,000 individuals.
Matched Proteins: Short-chain dehydrogenase/reductase family 42E member 1
Matched Compound Synonyms: 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-d-ribofuranosyl-3-pyridinecarboxamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide … 11-hydroxy-17-(2-hydroxyacetyl)-10-methyl-3-oxo-1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-13-carbaldehyde … 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-d-ribofuranosylnicotinamide
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SMP0120642
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Corticosterone Methyl Oxidase II Deficiency (CMO II)
Mus musculus
Matched Proteins: Short-chain dehydrogenase/reductase family 42E member 1
Matched Compound Synonyms: 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-d-ribofuranosyl-3-pyridinecarboxamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide … 11-hydroxy-17-(2-hydroxyacetyl)-10-methyl-3-oxo-1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-13-carbaldehyde … 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-d-ribofuranosylnicotinamide
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SMP0120650
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3-beta-Hydroxysteroid Dehydrogenase Deficiency
Mus musculus
Matched Description: affects less than 1 in 1,000,000 individuals, with around 60 cases reported.
Matched Proteins: Short-chain dehydrogenase/reductase family 42E member 1
Matched Compound Synonyms: 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-d-ribofuranosyl-3-pyridinecarboxamide … Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide … 11-hydroxy-17-(2-hydroxyacetyl)-10-methyl-3-oxo-1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-13-carbaldehyde … 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-d-ribofuranosylnicotinamide
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SMP0069905
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Cardiolipin Biosynthesis CL(18:1(11Z)/16:0/22:5(4Z,7Z,10Z,13Z,16Z)/22:5(4Z,7Z,10Z,13Z,16Z))
Mus musculus
Matched Description: enzyme glycerol-3-phosphate acyltransferase esterifies an acyl-group to the sn-1 position of sn … -glycerol 3-phosphate to form 1-acyl-sn-glycerol 3-phosphate (lysophosphatidic acid or LPA). Third, the … enzyme 1-acyl-sn-glycerol-3-phosphate acyltransferase converts LPA into phosphatidic acid (PA or 1,2
Matched Compounds: LysoPA(18:1(11Z)/0:0) … PA(18:1(11Z)/16:0) … CDP-DG(18:1(11Z)/16:0) … PGP(18:1(11Z)/16:0) … PG(18:1(11Z)/16:0)
Matched Compound Synonyms: 1-hydroxy-3-(phosphonooxy)-2-propanone … 1-hydroxy-3-(phosphonooxy)acetone … 1,3-dihydroxyacetone 1-phosphoric acid … 3-carbamoyl-1-beta-d-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate inner salt … 3-carbamoyl-1-beta-delta-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate inner salt
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