Portal:RareDisease/FeaturedPathways

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List of featured pathways:
List of featured pathways:
-
* [[Pathway:WP3584]] - MECP2 and Associated Rett Syndrome
+
* [[Pathway:WP2059]] - Alzheimers Disease
 +
* [[Pathway:WP2371]] - Parkinsons Disease Pathway
* [[Pathway:WP2447]] - Amyotrophic lateral sclerosis (ALS)
* [[Pathway:WP2447]] - Amyotrophic lateral sclerosis (ALS)
* [[Pathway:WP3569]] - Fanconi Anemia Pathway
* [[Pathway:WP3569]] - Fanconi Anemia Pathway
-
* [[Pathway:WP4320]] - The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome
+
* [[Pathway:WP3584]] - MECP2 and Associated Rett Syndrome
-
* [[Pathway:WP4299]] - Lamin A-processing pathway
+
* [[Pathway:WP3853]] - ERK Pathway in Huntington's Disease
-
* [[Pathway:WP4298]] - Viral Acute Myocarditis
+
* [[Pathway:WP3995]] - Prion disease pathway
-
* [[Pathway:WP4156]] - Disorders of Phenylalanine and Tetrahydrobiopterin
+
* [[Pathway:WP3998]] - Prader-Willi and Angelman Syndrome
-
* [[Pathway:WP4506]] - Tyrosine Metabolism
+
-
* [[Pathway:WP4292]] - Sulphur Amino Acids
+
-
* [[Pathway:WP4259]] - Disorders of Folate Metabolism and Transport
+
-
* [[Pathway:WP4288]] - MTHFR deficiency
+
-
* [[Pathway:WP4228]] - Vitamine B6-Dependent and Responsive Disorders
+
-
* [[Pathway:WP4507]] - Molybdenum (Moco) cofactor biosynthesis
+
-
* [[Pathway:WP4504]] - Cysteine and Methionine catabolism
+
-
* [[Pathway:WP4271]] - Vitamin B12 Disorders
+
-
* [[Pathway:WP4297]] - Thiamine Disorders
+
-
* [[Pathway:WP4236]] - Disorders of the Krebs Cycle
+
* [[Pathway:WP4153]] - Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
* [[Pathway:WP4153]] - Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
 +
* [[Pathway:WP4156]] - Disorders of Phenylalanine and Tetrahydrobiopterin
* [[Pathway:WP4220]] - Neurotransmitter Disorders
* [[Pathway:WP4220]] - Neurotransmitter Disorders
* [[Pathway:WP4224]] - Purine Disorders
* [[Pathway:WP4224]] - Purine Disorders
* [[Pathway:WP4225]] - Pyrimidine Disorder
* [[Pathway:WP4225]] - Pyrimidine Disorder
-
* [[Pathway:WP4540]] - Pathways Regulating Hippo Signaling
+
* [[Pathway:WP4228]] - Vitamine B6-Dependent and Responsive Disorders
-
* [[Pathway:WP4541]] - po-Merlin Signaling Dysregulation
+
* [[Pathway:WP4236]] - Disorders of the Krebs Cycle
 +
* [[Pathway:WP4259]] - Disorders of Folate Metabolism and Transport
 +
* [[Pathway:WP4271]] - Vitamin B12 Disorders
 +
* [[Pathway:WP4288]] - MTHFR deficiency
 +
* [[Pathway:WP4292]] - Sulphur Amino Acids
 +
* [[Pathway:WP4297]] - Thiamine Disorders
 +
* [[Pathway:WP4298]] - Viral Acute Myocarditis
 +
* [[Pathway:WP4299]] - Lamin A-processing pathway
 +
* [[Pathway:WP4312]] - Rett syndrome causing genes
 +
* [[Pathway:WP4320]] - The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome
 +
* [[Pathway:WP4504]] - Cysteine and Methionine catabolism
 +
* [[Pathway:WP4506]] - Tyrosine Metabolism
 +
* [[Pathway:WP4507]] - Molybdenum (Moco) cofactor biosynthesis
* [[Pathway:WP4518]] - Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
* [[Pathway:WP4518]] - Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
* [[Pathway:WP4519]] - Cerebral Organic Acidurias
* [[Pathway:WP4519]] - Cerebral Organic Acidurias
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* [[Pathway:WP4523]] - Classical pathway of steroidogenesis, including diseases
* [[Pathway:WP4523]] - Classical pathway of steroidogenesis, including diseases
* [[Pathway:WP4524]] - The alternative pathway of fetal androgen synthesis
* [[Pathway:WP4524]] - The alternative pathway of fetal androgen synthesis
 +
* [[Pathway:WP4535]] - Envelope proteins and their potential roles in EDMD physiopathology
 +
* [[Pathway:WP4540]] - Pathways Regulating Hippo Signaling
 +
* [[Pathway:WP4541]] - po-Merlin Signaling Dysregulation
 +
* [[Pathway:WP4545]] - Oxysterols derived from cholesterol
* [[Pathway:WP4549]] - Fragile X Syndrome
* [[Pathway:WP4549]] - Fragile X Syndrome
* [[Pathway:WP4577]] - WDR45 autophagy related pathway
* [[Pathway:WP4577]] - WDR45 autophagy related pathway
-
* [[Pathway:WP4312]] - Rett syndrome causing genes
+
* [[Pathway:WP4656]] - Joubert Syndrome
-
* [[Pathway:WP3995]] - Prion disease pathway
+
-
* [[Pathway:WP3853]] - ERK Pathway in Huntington's Disease
+
-
* [[Pathway:WP4535]] - Envelope proteins and their potential roles in EDMD physiopathology
+
-
* [[Pathway:WP2371]] - Parkinsons Disease Pathway
+
-
* [[Pathway:WP2059]] - Alzheimers Disease
+
* [[Pathway:WP4657]] - 22q11.2 Deletion Syndrome
* [[Pathway:WP4657]] - 22q11.2 Deletion Syndrome
-
* [[Pathway:WP4656]] - Joubert Syndrome
 
-
* [[Pathway:WP4746]] - Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
 
* [[Pathway:WP4673]] - Genes involved in male infertility
* [[Pathway:WP4673]] - Genes involved in male infertility
-
* [[Pathway:WP4844]] - The influence of laminopathies on Wnt signaling
+
* [[Pathway:WP4746]] - Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
-
* [[Pathway:WP4842]] - Mammalian disorder of sexual development
+
-
* [[Pathway:WP4871]] - Kisspeptin/Kisspeptin Receptor System in the Ovary
+
-
* [[Pathway:WP4838]] - Regucalcin in proximal tubule epithelial kidney cells
+
-
* [[Pathway:WP4835]] - Peroxiredoxin 2 induced ovarian failure
+
-
* [[Pathway:WP4830]] - GDNF/RET signalling axis
+
-
* [[Pathway:WP4818]] - Conversion of Angiotensinogen to Angiotensin II
+
* [[Pathway:WP4792]] - Purine metabolism
* [[Pathway:WP4792]] - Purine metabolism
-
* [[Pathway:WP4823]] - Genes controlling renal nephrogenesis
 
* [[Pathway:WP4814]] - Somatic Sex determination
* [[Pathway:WP4814]] - Somatic Sex determination
 +
* [[Pathway:WP4818]] - Conversion of Angiotensinogen to Angiotensin II
 +
* [[Pathway:WP4823]] - Genes controlling renal nephrogenesis
 +
* [[Pathway:WP4830]] - GDNF/RET signalling axis
 +
* [[Pathway:WP4835]] - Peroxiredoxin 2 induced ovarian failure
 +
* [[Pathway:WP4838]] - Regucalcin in proximal tubule epithelial kidney cells
 +
* [[Pathway:WP4842]] - Mammalian disorder of sexual development
 +
* [[Pathway:WP4844]] - The influence of laminopathies on Wnt signaling
 +
* [[Pathway:WP4871]] - Kisspeptin/Kisspeptin Receptor System in the Ovary
 +
* [[Pathway:WP4879]] - Interacting Laminopathic Pathways
* [[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:WP4879]] - Interacting Laminopathic Pathways
 
-
* [[Pathway:WP3998]] - Prader-Willi and Angelman Syndrome
 
-
* [[Pathway:WP4545]] - Oxysterols derived from cholesterol
 

Revision as of 07:51, 7 May 2020

Contents

Rare diseases in general

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MECP2 and Associated Rett Syndrome (Homo sapiens)
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Rett syndrome causing genes
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Amyotrophic lateral sclerosis (ALS) (Homo sapiens)
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Fanconi Anemia Pathway (Homo sapiens)
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Fragile X Syndrome
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WDR45 autophagy related pathway
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Viral Acute Myocarditis (Homo sapiens)
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Pathways Regulating Hippo Signaling
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Prion disease pathway
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Envelope proteins and their potential roles in EDMD physiopathology
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Parkinsons Disease Pathway
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Alzheimers Disease
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ERK Pathway in Huntington's Disease
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Joubert Syndrome
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Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
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po-Merlin Signaling Dysregulation

Copy number variation syndromes

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1q21.1 copy number variation syndrome
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3q29 copy number variation syndrome
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22q11.2 Deletion Syndrome
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Prader-Willi and Angelman Syndrome

Laminopathies

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Interacting Laminopathic Pathways
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Lamin A-processing pathway (Homo sapiens)
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The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome (Homo sapiens)
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The influence of laminopathies on Wnt signaling

Inborn errors of metabolism

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Molybdenum (Moco) cofactor biosynthesis
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Cysteine and Methionine catabolism
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Vitamin B12 Disorders
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Thiamine Disorders
Image does not exist
Sulphur Amino Acids
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Disorders of Folate Metabolism and Transport
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MTHFR deficiency (additonal pathway)
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Vitamine B6-Dependent and Responsive Disorders
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Disorders of the Krebs Cycle
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Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses
Image does not exist
Neurotransmitter Disorders
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Purine Disorders
Image does not exist
Pyrimidine Disorders
Image does not exist
Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism
Image does not exist
Tyrosine Metabolism
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Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases
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Cerebral Organic Acidurias
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Glycosylation and related congenital defects
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Metabolic pathway of LDL, HDL and TG
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Classical pathway of steroidogenesis, including diseases
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Purine metabolism
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Oxysterols derived from cholesterol

Disorders of sex development

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The alternative pathway of fetal androgen synthesis
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Genes involved in male infertility
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Mammalian disorder of sexual development
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Kisspeptin/Kisspeptin Receptor System in the Ovary
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Somatic Sex determination
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Peroxiredoxin 2 induced ovarian failure

CAKUT (congenital anomalies of the kidney and urinary tract)

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Regucalcin in proximal tubule epithelial kidney cells
Image does not exist
Genes controlling renal nephrogenesis
Image does not exist
GDNF/RET signalling axis
Image does not exist
Conversion of Angiotensinogen to Angiotensin II

List of featured pathways:

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