PathWhiz

PathWhiz ID	Pathway	Meta Data
PW122010 View Pathway	disease Refsum Disease Rattus norvegicus Adult Refsum Disease (Classic Refsum Disease; Phytanic Acid Oxidase Deficiency; Heredopathia Atactica Polyneurtiformis; Hereditary Motor and Sensory Neuropathy IV; HSMN4; Adult Refsum Disease I; Adult Refsum Disease II), can be caused by mutations in the PHYH (or PAHX) gene, which encodes Phytanoyl-CoA hydroxylase (, the first enzyme in the Phytanic Acid Peroxisomal Oxidation pathway) on chromosome 10 (adult Refsum disease I), and by mutation of the PEX7 gene. A defect in phytanoyl-CoA hydroxylase results in accumulation of phytanic acid in the plasma, as well as low levels of pristanic acid due to the inability for phytanic acid to undergo alpha and beta oxidation. Symptoms include anosmia, ataxia, nystagmus, neurological deterioration and peripheral neuropathy. Adult Refsum disease is distinctly different from Infantile Refsum disease both genetically and phenotypically. Infantile Refsum disease involves mutations of the PEX1, PEX2 and PEX26 genes. 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
PW121785 View Pathway	disease Refsum Disease Mus musculus Adult Refsum Disease (Classic Refsum Disease; Phytanic Acid Oxidase Deficiency; Heredopathia Atactica Polyneurtiformis; Hereditary Motor and Sensory Neuropathy IV; HSMN4; Adult Refsum Disease I; Adult Refsum Disease II), can be caused by mutations in the PHYH (or PAHX) gene, which encodes Phytanoyl-CoA hydroxylase (, the first enzyme in the Phytanic Acid Peroxisomal Oxidation pathway) on chromosome 10 (adult Refsum disease I), and by mutation of the PEX7 gene. A defect in phytanoyl-CoA hydroxylase results in accumulation of phytanic acid in the plasma, as well as low levels of pristanic acid due to the inability for phytanic acid to undergo alpha and beta oxidation. Symptoms include anosmia, ataxia, nystagmus, neurological deterioration and peripheral neuropathy. Adult Refsum disease is distinctly different from Infantile Refsum disease both genetically and phenotypically. Infantile Refsum disease involves mutations of the PEX1, PEX2 and PEX26 genes. 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
PW000122 View Pathway	disease Refsum Disease Homo sapiens Adult Refsum Disease (Classic Refsum Disease; Phytanic Acid Oxidase Deficiency; Heredopathia Atactica Polyneurtiformis; Hereditary Motor and Sensory Neuropathy IV; HSMN4; Adult Refsum Disease I; Adult Refsum Disease II), can be caused by mutations in the PHYH (or PAHX) gene, which encodes Phytanoyl-CoA hydroxylase (, the first enzyme in the Phytanic Acid Peroxisomal Oxidation pathway) on chromosome 10 (adult Refsum disease I), and by mutation of the PEX7 gene. A defect in phytanoyl-CoA hydroxylase results in accumulation of phytanic acid in the plasma, as well as low levels of pristanic acid due to the inability for phytanic acid to undergo alpha and beta oxidation. Symptoms include anosmia, ataxia, nystagmus, neurological deterioration and peripheral neuropathy. Adult Refsum disease is distinctly different from Infantile Refsum disease both genetically and phenotypically. Infantile Refsum disease involves mutations of the PEX1, PEX2 and PEX26 genes. 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
PW127373 View Pathway	disease Refsum Disease Homo sapiens Adult Refsum Disease (Classic Refsum Disease; Phytanic Acid Oxidase Deficiency; Heredopathia Atactica Polyneurtiformis; Hereditary Motor and Sensory Neuropathy IV; HSMN4; Adult Refsum Disease I; Adult Refsum Disease II), can be caused by mutations in the PHYH (or PAHX) gene, which encodes Phytanoyl-CoA hydroxylase (, the first enzyme in the Phytanic Acid Peroxisomal Oxidation pathway) on chromosome 10 (adult Refsum disease I), and by mutation of the PEX7 gene. A defect in phytanoyl-CoA hydroxylase results in accumulation of phytanic acid in the plasma, as well as low levels of pristanic acid due to the inability for phytanic acid to undergo alpha and beta oxidation. Symptoms include anosmia, ataxia, nystagmus, neurological deterioration and peripheral neuropathy. Adult Refsum disease is distinctly different from Infantile Refsum disease both genetically and phenotypically. Infantile Refsum disease involves mutations of the PEX1, PEX2 and PEX26 genes. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: December 19, 2022 at 17:59 Last Updated: December 19, 2022 at 17:59
PW132457 View Pathway	metabolic Regadenoson Drug Metabolism Homo sapiens Regadenoson is a drug that is not metabolized by the human body as determined by current research and biotransformer analysis. Regadenoson 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 21:53 Last Updated: September 21, 2023 at 21:53
PW145682 View Pathway	drug action Regadenoson Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 16:22 Last Updated: October 07, 2023 at 16:22
PW128522 View Pathway	drug action Regorafenib Action Pathway Homo sapiens Regorafenib is an oral kinase inhibitor with a broad spectrum of activity. It is used to treat metastatic colorectal cancer, advanced gastrointestinal stromal tumors, and hepatocellular carcinoma. Initially approved by the FDA on September 27, 2012, it was later expanded in April 2017 to include the treatment of hepatocellular carcinoma. Regorafenib is indicated for patients with metastatic colorectal cancer who have previously undergone various chemotherapy regimens, anti-VEGF therapy, and, if they have wild-type KRAS, anti-EGFR therapy. It is also used for patients with locally advanced, unresectable, or metastatic gastrointestinal stromal tumors who have been previously treated with imatinib mesylate and sunitinib malate. Additionally, it's prescribed for patients with hepatocellular carcinoma who have received prior treatment with sorafenib. Regorafenib functions as an inhibitor of multiple kinases, playing a role in normal cellular processes and pathological conditions like oncogenesis, tumor angiogenesis, and the maintenance of the tumor microenvironment. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Dorsa Yahya Rayat Created On: September 01, 2023 at 12:52 Last Updated: September 01, 2023 at 12:52
PW145875 View Pathway	drug action Regorafenib Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 16:52 Last Updated: October 07, 2023 at 16:52
PW123857 View Pathway	signaling Regulatory T cell in Pregnancy Mus musculus BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Guest: Anonymous Created On: April 14, 2020 at 13:13 Last Updated: April 14, 2020 at 13:13
PW146522 View Pathway	drug action Relebactam Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 18:24 Last Updated: October 07, 2023 at 18:24