Portal:RareDisease/News
From WikiPathways
(Difference between revisions)
Line 38: | Line 38: | ||
* [[Pathway:WP2371|Parkinsons Disease Pathway]] | * [[Pathway:WP2371|Parkinsons Disease Pathway]] | ||
* [[Pathway:WP2059|Alzheimers Disease]] | * [[Pathway:WP2059|Alzheimers Disease]] | ||
- | |||
* [[Pathway:WP4746|Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism]] | * [[Pathway:WP4746|Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism]] | ||
* [[Pathway:WP4656|Joubert Syndrome]] | * [[Pathway:WP4656|Joubert Syndrome]] | ||
Line 52: | Line 51: | ||
* [[Pathway:WP4823|Genes controlling renal nephrogenesis]] | * [[Pathway:WP4823|Genes controlling renal nephrogenesis]] | ||
* [[Pathway:WP4814|Somatic Sex determination]] | * [[Pathway:WP4814|Somatic Sex determination]] | ||
+ | * [[Pathway:WP4879|Interacting Laminopathic Pathways]] | ||
+ | Copy number variation syndromes (CNVs) - duplications or deletions | ||
* [[Pathway:WP4905|1q21.1 copy number variation syndrome]] | * [[Pathway:WP4905|1q21.1 copy number variation syndrome]] | ||
* [[Pathway:WP4906|3q29 copy number variation syndrome]] | * [[Pathway:WP4906|3q29 copy number variation syndrome]] | ||
- | * [[Pathway: | + | * [[Pathway:WP4657|22q11.2 Deletion Syndrome]] |
+ | * [[Pathway:WP3998|Prader-Willi and Angelman Syndrome]] |
Revision as of 15:07, 30 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
- 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
- Interacting Laminopathic Pathways
Copy number variation syndromes (CNVs) - duplications or deletions