Portal:RareDisease/News

From WikiPathways

Revision as of 07:47, 23 April 2020

Explore rare disease pathways on WikiPathways:

• MECP2 and Associated Rett Syndrome
• Amyotrophic lateral sclerosis (ALS)
• Fanconi Anemia Pathway
• The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome
• Lamin A-processing pathway
• Viral Acute Myocarditis
• Disorders of Phenylalanine and Tetrahydrobiopterin
• Tyrosine Metabolism
• Sulphur Amino Acids
• Disorders of Folate Metabolism and Transport
• MTHFR deficiency
• Vitamine B6-Dependent and Responsive Disorders
• Molybdenum (Moco) cofactor biosynthesis
• Cysteine and Methionine catabolism disorders
• Vitamin B12 Disorders
• Thiamine Disorders
• Disorders of the Krebs Cycle
• Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
• Neurotransmitter Disorders
• Purine Disorders
• Pyrimidine Disorder
• Pathways Regulating Hippo Signaling
• po-Merlin Signaling Dysregulation
• Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
• Cerebral Organic Acidurias
• Glycosylation and related congenital defects
• Metabolic pathway of LDL, HDL and TG
• Classical pathway of steroidogenesis, including diseases
• The alternative pathway of fetal androgen synthesis
• Fragile X Syndrome
• WDR45 autophagy related pathway
• Rett syndrome causing genes
• Prion disease pathway
• ERK Pathway in Huntington's Disease
• Envelope proteins and their potential roles in EDMD physiopathology
• Parkinsons Disease Pathway
• Alzheimers Disease
• 22q11.2 Deletion Syndrome
• Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
• Joubert Syndrome
• Genes involved in male infertility
• The influence of laminopathies on Wnt signaling
• Mammalian disorder of sexual development
• Kisspeptin/Kisspeptin Receptor System in the Ovary
• Regucalcin in proximal tubule epithelial kidney cells
• Peroxiredoxin 2 induced ovarian failure
• GDNF/RET signalling axis
• Conversion of Angiotensinogen to Angiotensin II
• Purine metabolism
• Genes controlling renal nephrogenesis
• Somatic Sex determination
• 1q21.1 copy number variation syndrome
• 3q29 copy number variation syndrome