Portal:RareDisease/FeaturedPathways

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== 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; cell padding=50px|{{#pwImage:Pathway:WP3584|250px||MECP2 and Associated Rett Syndrome (Homo sapiens)}}
 +
|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:WP3569|250px||Fanconi Anemia Pathway (Homo sapiens)}}
-
|width=100px|{{#pwImage:Pathway:WP4320|250px||The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome (Homo sapiens)}}
+
|}
-
|-
+
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4299|250px||Lamin A-processing pathway (Homo sapiens)}}
+
|width=100px|{{#pwImage:Pathway:WP4549|250px||Fragile X Syndrome}}
 +
|width=100px|{{#pwImage:Pathway:WP4577|250px||WDR45 autophagy related pathway}}
|width=100px|{{#pwImage:Pathway:WP4298|250px||Viral Acute Myocarditis (Homo sapiens)}}
|width=100px|{{#pwImage:Pathway:WP4298|250px||Viral Acute Myocarditis (Homo sapiens)}}
-
|width=100px|{{#pwImage:Pathway:WP4156|250px||Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism}}
+
|width=100px|{{#pwImage:Pathway:WP4540|250px||Pathways Regulating Hippo Signaling}}
-
|width=100px|{{#pwImage:Pathway:WP4506|250px||Tyrosine Metabolism}}
+
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4292|250px||Sulphur Amino Acids}}
+
|width=100px|{{#pwImage:Pathway:WP4541|250px||po-Merlin Signaling Dysregulation}}
-
|width=100px|{{#pwImage:Pathway:WP4259|250px||Disorders of Folate Metabolism and Transport}}
+
|}
-
|width=100px|{{#pwImage:Pathway:WP4288|250px||MTHFR deficiency (additonal pathway)}}
+
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4228|250px||Vitamine B6-Dependent and Responsive Disorders}}
+
|width=100px|{{#pwImage:Pathway:WP3995|250px||Prion disease pathway}}
 +
|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:WP2059|250px||Alzheimers Disease}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP3853|250px||ERK Pathway in Huntington's Disease}}
 +
|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}}
 +
|}
 +
== Copy number variations ==
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4905|250px||1q21.1 copy number variation syndrome}}
 +
|width=100px|{{#pwImage:Pathway:WP4906|250px||3q29 copy number variation syndrome}}
 +
|width=100px|{{#pwImage:Pathway:WP4657|250px||22q11.2 Deletion Syndrome}}
 +
|width=100px|{{#pwImage:Pathway:WP3998|250px||Prader-Willi and Angelman Syndrome}}
 +
|}
 +
== Laminopathies ==
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4879|250px||Interacting Laminopathic Pathways}}
 +
|width=100px|{{#pwImage:Pathway:WP4299|250px||Lamin A-processing pathway (Homo sapiens)}}
 +
|width=100px|{{#pwImage:Pathway:WP4320|250px||The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome (Homo sapiens)}}
 +
|width=100px|{{#pwImage:Pathway:WP4844|250px||The influence of laminopathies on Wnt signaling}}
|}
|}
 +
== Inborn errors of metabolism ==
{| style="margin: 10px"
{| style="margin: 10px"
|width=100px|{{#pwImage:Pathway:WP4507|250px||Molybdenum (Moco) cofactor biosynthesis}}
|width=100px|{{#pwImage:Pathway:WP4507|250px||Molybdenum (Moco) cofactor biosynthesis}}
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|width=100px|{{#pwImage:Pathway:WP4271|250px||Vitamin B12 Disorders}}
|width=100px|{{#pwImage:Pathway:WP4271|250px||Vitamin B12 Disorders}}
|width=100px|{{#pwImage:Pathway:WP4297|250px||Thiamine Disorders}}
|width=100px|{{#pwImage:Pathway:WP4297|250px||Thiamine Disorders}}
 +
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4292|250px||Sulphur Amino Acids}}
 +
|width=100px|{{#pwImage:Pathway:WP4259|250px||Disorders of Folate Metabolism and Transport}}
 +
|width=100px|{{#pwImage:Pathway:WP4288|250px||MTHFR deficiency (additonal pathway)}}
 +
|width=100px|{{#pwImage:Pathway:WP4228|250px||Vitamine B6-Dependent and Responsive Disorders}}
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
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{| style="margin: 10px"
{| style="margin: 10px"
|width=100px|{{#pwImage:Pathway:WP4225|250px||Pyrimidine Disorders}}
|width=100px|{{#pwImage:Pathway:WP4225|250px||Pyrimidine Disorders}}
-
|width=100px|{{#pwImage:Pathway:WP4540|250px||Pathways Regulating Hippo Signaling}}
+
|width=100px|{{#pwImage:Pathway:WP4156|250px||Disorders of Phenylalanine and Tetrahydrobiopterin (BH4) Metabolism}}
-
|width=100px|{{#pwImage:Pathway:WP4541|250px||po-Merlin Signaling Dysregulation}}
+
|width=100px|{{#pwImage:Pathway:WP4506|250px||Tyrosine Metabolism}}
|width=100px|{{#pwImage:Pathway:WP4518|250px||Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases}}
|width=100px|{{#pwImage:Pathway:WP4518|250px||Gamma-Glutamyl Cycle for the biosynthesis and degradation of glutathione, including diseases}}
|}
|}
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|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4524|250px||The alternative pathway of fetal androgen synthesis}}
+
|width=100px|{{#pwImage:Pathway:WP4792|250px||Purine metabolism}}
-
|width=100px|{{#pwImage:Pathway:WP4549|250px||Fragile X Syndrome}}
+
|width=100px|{{#pwImage:Pathway:WP4545|250px||Oxysterols derived from cholesterol}}
-
|width=100px|{{#pwImage:Pathway:WP4577|250px||WDR45 autophagy related pathway}}
+
-
|width=100px|{{#pwImage:Pathway:WP4312|250px||Rett syndrome causing genes}}
+
-
|}
+
-
{| style="margin: 10px"
+
-
|width=100px|{{#pwImage:Pathway:WP3995|250px||Prion disease pathway}}
+
-
|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:WP2059|250px||Alzheimers Disease}}
+
-
|}
+
-
{| style="margin: 10px"
+
-
|width=100px|{{#pwImage:Pathway:WP3853|250px||ERK Pathway in Huntington's Disease}}
+
-
|width=100px|{{#pwImage:Pathway:WP4657|250px||22q11.2 Deletion Syndrome}}
+
-
|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}}
+
|}
|}
 +
== 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:WP4844|250px||The influence of laminopathies on Wnt signaling}}
 
|width=100px|{{#pwImage:Pathway:WP4842|250px||Mammalian disorder of sexual development}}
|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}}
|}
|}
 +
{| style="margin: 10px"
 +
|width=100px|{{#pwImage:Pathway:WP4814|250px||Somatic Sex determination}}
 +
|}
 +
== CAKUT ==
{| style="margin: 10px"
{| style="margin: 10px"
|width=100px|{{#pwImage:Pathway:WP4838|250px||Regucalcin in proximal tubule epithelial kidney cells}}
|width=100px|{{#pwImage:Pathway:WP4838|250px||Regucalcin in proximal tubule epithelial kidney cells}}
|width=100px|{{#pwImage:Pathway:WP4835|250px||Peroxiredoxin 2 induced ovarian failure}}
|width=100px|{{#pwImage:Pathway:WP4835|250px||Peroxiredoxin 2 induced ovarian failure}}
|width=100px|{{#pwImage:Pathway:WP4830|250px||GDNF/RET signalling axis}}
|width=100px|{{#pwImage:Pathway:WP4830|250px||GDNF/RET signalling axis}}
-
|width=100px|{{#pwImage:Pathway:WP4792|250px||Purine metabolism}}
 
-
|}
 
-
{| style="margin: 10px"
 
|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:WP4823|250px||Genes controlling renal nephrogenesis}}
 
-
|width=100px|{{#pwImage:Pathway:WP4814|250px||Somatic Sex determination}}
 
-
|width=100px|{{#pwImage:Pathway:WP4905|250px||1q21.1 copy number variation syndrome}}
 
|}
|}
{| style="margin: 10px"
{| style="margin: 10px"
-
|width=100px|{{#pwImage:Pathway:WP4906|250px||3q29 copy number variation syndrome}}
+
|width=100px|{{#pwImage:Pathway:WP4823|250px||Genes controlling renal nephrogenesis}}
-
|width=100px|{{#pwImage:Pathway:WP4879|250px||Interacting Laminopathic Pathways}}
+
-
|width=100px|{{#pwImage:Pathway:WP3998|250px||Prader-Willi and Angelman Syndrome}}
+
-
|width=100px|{{#pwImage:Pathway:WP4545|250px||Oxysterols derived from cholesterol}}
+
|}
|}
 +
List of featured pathways:
List of featured pathways:

Revision as of 07:34, 7 May 2020

Contents

Rare diseases in general

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

Copy number variations

Image does not exist
1q21.1 copy number variation syndrome
Image does not exist
3q29 copy number variation syndrome
Image does not exist
22q11.2 Deletion Syndrome
Image does not exist
Prader-Willi and Angelman Syndrome

Laminopathies

Image does not exist
Interacting Laminopathic Pathways
Image does not exist
Lamin A-processing pathway (Homo sapiens)
Image does not exist
The effect of progerin on the involved genes in Hutchinson-Gilford Progeria Syndrome (Homo sapiens)
Image does not exist
The influence of laminopathies on Wnt signaling

Inborn errors of metabolism

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

Disorders of sex development

Image does not exist
The alternative pathway of fetal androgen synthesis
Image does not exist
Genes involved in male infertility
Image does not exist
Mammalian disorder of sexual development
Image does not exist
Kisspeptin/Kisspeptin Receptor System in the Ovary
Image does not exist
Somatic Sex determination

CAKUT

Image does not exist
Regucalcin in proximal tubule epithelial kidney cells
Image does not exist
Peroxiredoxin 2 induced ovarian failure
Image does not exist
GDNF/RET signalling axis
Image does not exist
Conversion of Angiotensinogen to Angiotensin II
Image does not exist
Genes controlling renal nephrogenesis


List of featured pathways:

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