Portal:RareDisease/FeaturedPathways

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== Rare diseases in general ==
== Rare diseases in general ==
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px; cell padding=50px|{{#pwImage:Pathway:WP3584|250px||MECP2 and Associated Rett Syndrome (Homo sapiens)}}
+
|width=100px|{{#pwImage:Pathway:WP2059|250px||Alzheimers Disease}}
-
|width=100px|{{#pwImage:Pathway:WP4312|250px||Rett syndrome causing genes}}
+
|width=100px|{{#pwImage:Pathway:WP2447|250px||Amyotrophic lateral sclerosis (ALS) (Homo sapiens)}}
|width=100px|{{#pwImage:Pathway:WP2447|250px||Amyotrophic lateral sclerosis (ALS) (Homo sapiens)}}
-
|width=100px|{{#pwImage:Pathway:WP3569|250px||Fanconi Anemia Pathway (Homo sapiens)}}
+
|width=100px|{{#pwImage:Pathway:WP4535|250px||Envelope proteins and their potential roles in EDMD physiopathology}}
 +
|width=100px|{{#pwImage:Pathway:WP3853|250px||ERK Pathway in Huntington's Disease}}
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP3569|250px||Fanconi Anemia Pathway (Homo sapiens)}}
|width=100px|{{#pwImage:Pathway:WP4549|250px||Fragile X Syndrome}}
|width=100px|{{#pwImage:Pathway:WP4549|250px||Fragile X Syndrome}}
-
|width=100px|{{#pwImage:Pathway:WP4577|250px||WDR45 autophagy related pathway}}
+
|width=100px|{{#pwImage:Pathway:WP4656|250px||Joubert Syndrome}}
-
|width=100px|{{#pwImage:Pathway:WP4298|250px||Viral Acute Myocarditis (Homo sapiens)}}
+
|width=100px; cell padding=50px|{{#pwImage:Pathway:WP3584|250px||MECP2 and Associated Rett Syndrome (Homo sapiens)}}
-
|width=100px|{{#pwImage:Pathway:WP4540|250px||Pathways Regulating Hippo Signaling}}
+
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP3995|250px||Prion disease pathway}}
+
|width=100px|{{#pwImage:Pathway:WP4540|250px||Pathways Regulating Hippo Signaling}}
-
|width=100px|{{#pwImage:Pathway:WP4535|250px||Envelope proteins and their potential roles in EDMD physiopathology}}
+
|width=100px|{{#pwImage:Pathway:WP2371|250px||Parkinsons Disease Pathway}}
|width=100px|{{#pwImage:Pathway:WP2371|250px||Parkinsons Disease Pathway}}
-
|width=100px|{{#pwImage:Pathway:WP2059|250px||Alzheimers Disease}}
+
|width=100px|{{#pwImage:Pathway:WP4541|250px||po-Merlin Signaling Dysregulation}}
 +
|width=100px|{{#pwImage:Pathway:WP3995|250px||Prion disease pathway}}
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP3853|250px||ERK Pathway in Huntington's Disease}}
+
|width=100px|{{#pwImage:Pathway:WP4312|250px||Rett syndrome causing genes}}
-
|width=100px|{{#pwImage:Pathway:WP4656|250px||Joubert Syndrome}}
+
|width=100px|{{#pwImage:Pathway:WP4746|250px||Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism}}
|width=100px|{{#pwImage:Pathway:WP4746|250px||Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism}}
-
|width=100px|{{#pwImage:Pathway:WP4541|250px||po-Merlin Signaling Dysregulation}}
+
|width=100px|{{#pwImage:Pathway:WP4298|250px||Viral Acute Myocarditis (Homo sapiens)}}
 +
|width=100px|{{#pwImage:Pathway:WP4577|250px||WDR45 autophagy related pathway}}
|}
|}
== Copy number variation syndromes ==
== Copy number variation syndromes ==
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== Disorders of sex development ==
== Disorders of sex development ==
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4524|250px||The alternative pathway of fetal androgen synthesis}}
 
|width=100px|{{#pwImage:Pathway:WP4673|250px||Genes involved in male infertility}}
|width=100px|{{#pwImage:Pathway:WP4673|250px||Genes involved in male infertility}}
-
|width=100px|{{#pwImage:Pathway:WP4842|250px||Mammalian disorder of sexual development}}
 
|width=100px|{{#pwImage:Pathway:WP4871|250px||Kisspeptin/Kisspeptin Receptor System in the Ovary}}
|width=100px|{{#pwImage:Pathway:WP4871|250px||Kisspeptin/Kisspeptin Receptor System in the Ovary}}
 +
|width=100px|{{#pwImage:Pathway:WP4842|250px||Mammalian disorder of sexual development}}
 +
|width=100px|{{#pwImage:Pathway:WP4835|250px||Peroxiredoxin 2 induced ovarian failure}}
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
|width=100px|{{#pwImage:Pathway:WP4814|250px||Somatic Sex determination}}
|width=100px|{{#pwImage:Pathway:WP4814|250px||Somatic Sex determination}}
-
|width=100px|{{#pwImage:Pathway:WP4835|250px||Peroxiredoxin 2 induced ovarian failure}}
+
|width=100px|{{#pwImage:Pathway:WP4524|250px||The alternative pathway of fetal androgen synthesis}}
|}
|}
== CAKUT (congenital anomalies of the kidney and urinary tract)==
== CAKUT (congenital anomalies of the kidney and urinary tract)==
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4838|250px||Regucalcin in proximal tubule epithelial kidney cells}}
 
-
|width=100px|{{#pwImage:Pathway:WP4823|250px||Genes controlling renal nephrogenesis}}
 
-
|width=100px|{{#pwImage:Pathway:WP4830|250px||GDNF/RET signalling axis}}
 
|width=100px|{{#pwImage:Pathway:WP4818|250px||Conversion of Angiotensinogen to Angiotensin II}}
|width=100px|{{#pwImage:Pathway:WP4818|250px||Conversion of Angiotensinogen to Angiotensin II}}
 +
|width=100px|{{#pwImage:Pathway:WP4830|250px||GDNF/RET signalling axis}}
 +
|width=100px|{{#pwImage:Pathway:WP4823|250px||Genes controlling renal nephrogenesis}}
 +
|width=100px|{{#pwImage:Pathway:WP4838|250px||Regucalcin in proximal tubule epithelial kidney cells}}
|}
|}

Revision as of 07:58, 7 May 2020

Contents

Rare diseases in general

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Alzheimers Disease
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Amyotrophic lateral sclerosis (ALS) (Homo sapiens)
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Envelope proteins and their potential roles in EDMD physiopathology
Image does not exist
ERK Pathway in Huntington's Disease
Image does not exist
Fanconi Anemia Pathway (Homo sapiens)
Image does not exist
Fragile X Syndrome
Image does not exist
Joubert Syndrome
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MECP2 and Associated Rett Syndrome (Homo sapiens)
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Pathways Regulating Hippo Signaling
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Parkinsons Disease Pathway
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po-Merlin Signaling Dysregulation
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Prion disease pathway
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Rett syndrome causing genes
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Thyroid hormones production and their peripheral downstream signalling effects regarding congenital hypothyroidism
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Viral Acute Myocarditis (Homo sapiens)
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WDR45 autophagy related pathway

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
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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
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Neurotransmitter Disorders
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Purine Disorders
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Pyrimidine Disorders
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Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism
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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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Genes involved in male infertility
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Kisspeptin/Kisspeptin Receptor System in the Ovary
Image does not exist
Mammalian disorder of sexual development
Image does not exist
Peroxiredoxin 2 induced ovarian failure
Image does not exist
Somatic Sex determination
Image does not exist
The alternative pathway of fetal androgen synthesis

CAKUT (congenital anomalies of the kidney and urinary tract)

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

List of featured pathways:

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