PathWhiz

PathWhiz ID	Pathway	Meta Data
PW121769 View Pathway	disease Smith-Lemli-Opitz Syndrome (SLOS) Mus musculus The autosomal recessive disorder Smith-Lemli-Opitz Syndrome (SLOS; SLO Syndrome; RSH; Rutledge Lethal Multiple Congenital Anomaly, Syndrome; Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung; Lethal Acrodysgenital Syndrome) is characterized by disordered steroid biosynthesis. It results from a mutation in the DHCR7 gene coding for the enzyme sterol delta-7-reducatase. This enzyme catalyzes the production of cholesterol by reducing the C7-C8 double bond of 7-dehydrocholesterol (7-DHC). SLOS causes the accumulation of 7-dehydrocholesterol and 8-dehydrocholesterol, and a decrease of cholesterol in plasma; and 3-methylglutaconic acid in urine. All patients with SLOS have mental retardation, and symptoms include ambiguous genitalia, hypotonia, microcephaly, syndactyly, limb abnormalities and deformities and polydactyly. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:49 Last Updated: September 10, 2018 at 15:49
PW121994 View Pathway	disease Smith-Lemli-Opitz Syndrome (SLOS) Rattus norvegicus The autosomal recessive disorder Smith-Lemli-Opitz Syndrome (SLOS; SLO Syndrome; RSH; Rutledge Lethal Multiple Congenital Anomaly, Syndrome; Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung; Lethal Acrodysgenital Syndrome) is characterized by disordered steroid biosynthesis. It results from a mutation in the DHCR7 gene coding for the enzyme sterol delta-7-reducatase. This enzyme catalyzes the production of cholesterol by reducing the C7-C8 double bond of 7-dehydrocholesterol (7-DHC). SLOS causes the accumulation of 7-dehydrocholesterol and 8-dehydrocholesterol, and a decrease of cholesterol in plasma; and 3-methylglutaconic acid in urine. All patients with SLOS have mental retardation, and symptoms include ambiguous genitalia, hypotonia, microcephaly, syndactyly, limb abnormalities and deformities and polydactyly. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51
PW127199 View Pathway	disease Smith-Lemli-Opitz Syndrome (SLOS) Homo sapiens The autosomal recessive disorder Smith-Lemli-Opitz Syndrome (SLOS; SLO Syndrome; RSH; Rutledge Lethal Multiple Congenital Anomaly, Syndrome; Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung; Lethal Acrodysgenital Syndrome) is characterized by disordered steroid biosynthesis. It results from a mutation in the DHCR7 gene coding for the enzyme sterol delta-7-reducatase. This enzyme catalyzes the production of cholesterol by reducing the C7-C8 double bond of 7-dehydrocholesterol (7-DHC). SLOS causes the accumulation of 7-dehydrocholesterol and 8-dehydrocholesterol, and a decrease of cholesterol in plasma; and 3-methylglutaconic acid in urine. All patients with SLOS have mental retardation, and symptoms include ambiguous genitalia, hypotonia, microcephaly, syndactyly, limb abnormalities and deformities and polydactyly. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: November 07, 2022 at 14:40 Last Updated: November 07, 2022 at 14:40
PW000095 View Pathway	disease Smith-Lemli-Opitz Syndrome (SLOS) Homo sapiens The autosomal recessive disorder Smith-Lemli-Opitz Syndrome (SLOS; SLO Syndrome; RSH; Rutledge Lethal Multiple Congenital Anomaly, Syndrome; Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung; Lethal Acrodysgenital Syndrome) is characterized by disordered steroid biosynthesis. It results from a mutation in the DHCR7 gene coding for the enzyme sterol delta-7-reducatase. This enzyme catalyzes the production of cholesterol by reducing the C7-C8 double bond of 7-dehydrocholesterol (7-DHC). SLOS causes the accumulation of 7-dehydrocholesterol and 8-dehydrocholesterol, and a decrease of cholesterol in plasma; and 3-methylglutaconic acid in urine. All patients with SLOS have mental retardation, and symptoms include ambiguous genitalia, hypotonia, microcephaly, syndactyly, limb abnormalities and deformities and polydactyly. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52
PW126929 View Pathway	physiological Smooth muscle contraction - relaxation Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Guest: Anonymous Created On: May 16, 2022 at 05:03 Last Updated: May 16, 2022 at 05:03
PW132336 View Pathway	metabolic Sodium 1,2-Dipalmitoyl-sn-glycero-3-phospho-(1'-rac-glycerol) Drug Metabolism Homo sapiens Sodium 1,2-Dipalmitoyl-sn-glycero-3-phospho-(1'-rac-glycerol) is a drug that is not metabolized by the human body as determined by current research and biotransformer analysis. Sodium 1,2-Dipalmitoyl-sn-glycero-3-phospho-(1'-rac-glycerol) passes through the liver and is then excreted from the body mainly through the kidney. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: September 21, 2023 at 20:58 Last Updated: September 21, 2023 at 20:58
PW146755 View Pathway	drug action Sodium 1,2-Dipalmitoyl-sn-glycero-3-phospho-(1'-rac-glycerol) Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 18:57 Last Updated: October 07, 2023 at 18:57
PW132162 View Pathway	metabolic Sodium acetate Drug Metabolism Homo sapiens Sodium acetate is a drug that is not metabolized by the human body as determined by current research and biotransformer analysis. Sodium acetate passes through the liver and is then excreted from the body mainly through the kidney. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: September 21, 2023 at 19:46 Last Updated: September 21, 2023 at 19:46
PW146134 View Pathway	drug action Sodium acetate Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 17:29 Last Updated: October 07, 2023 at 17:29
PW132248 View Pathway	metabolic Sodium ascorbate Drug Metabolism Homo sapiens Sodium ascorbate is a drug that is not metabolized by the human body as determined by current research and biotransformer analysis. Sodium ascorbate passes through the liver and is then excreted from the body mainly through the kidney. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: September 21, 2023 at 20:24 Last Updated: September 21, 2023 at 20:24