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Update communities in frontmatter .md files
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actions-user committed Nov 30, 2024
1 parent 965c9aa commit 8383832
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1 change: 0 additions & 1 deletion pathways/WP5343/WP5343.md
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Expand Up @@ -28,7 +28,6 @@ authors:
- Egonw
communities:
- Diseases
- RareDiseases
description: Abnormal calcium handling and its effects on muscle contraction in DMD
last-edited: 2023-05-01
organisms:
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3 changes: 2 additions & 1 deletion pathways/WP5355/WP5355.md
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Expand Up @@ -31,7 +31,8 @@ citedin:
- link: 10.1097/md.0000000000039057
title: Investigation of the relationship between COVID-19 and pancreatic cancer
using bioinformatics and systems biology approaches (2024)
communities: []
communities:
- RareDiseases
description: A network pathway of nine metabolic epileptic disorders
last-edited: 2024-04-24
ndex: null
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3 changes: 2 additions & 1 deletion pathways/WP5362/WP5362.md
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Expand Up @@ -18,7 +18,8 @@ authors:
- Eweitz
- Egonw
citedin: ''
communities: []
communities:
- RareDiseases
description: 'The TAR syndrome (Thrombocytopenia with Absent Radius) is a rare genetic
disorder caused by a deletion on the chromosome 1 (GRCh37: chr1:145,394,955-145,807,817
according to Kirov et al. 2014 10.1016/j.biopsych.2013.07.022). The most notable
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3 changes: 2 additions & 1 deletion pathways/WP5365/WP5365.md
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Expand Up @@ -15,7 +15,8 @@ authors:
- Eweitz
- Egonw
citedin: ''
communities: []
communities:
- RareDiseases
description: The Wolf-Hirschhorn syndrome is a rare genetic disorder caused by a microdeletion
in the chromosomal region 4p16.3. Typical symptoms are a distinct facial morphology,
intellectual disability, psychiatric disorders, seizures, and heart defects. The
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3 changes: 2 additions & 1 deletion pathways/WP5366/WP5366.md
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Expand Up @@ -15,7 +15,8 @@ authors:
- Khanspers
- Eweitz
citedin: ''
communities: []
communities:
- RareDiseases
description: 'The NF1 deletion and NF1 duplication, ranging from chr17: 29,100,000
to chr17: 30,280,000 can result in a loss of up to 14 protein coding genes, including
NF1. '
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3 changes: 2 additions & 1 deletion pathways/WP5376/WP5376.md
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Expand Up @@ -17,7 +17,8 @@ authors:
- Eweitz
- Egonw
citedin: ''
communities: []
communities:
- RareDiseases
description: 'The 17p13.3 deletion or duplication ranging from chr17:1250000 to chr17:1300000,
affects YWHAE gene. The YWHAE gene plays a role in a lot of different processes
and is closely related to many diseases. '
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3 changes: 2 additions & 1 deletion pathways/WP5380/WP5380.md
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Expand Up @@ -20,7 +20,8 @@ authors:
- Khanspers
- Eweitz
citedin: ''
communities: []
communities:
- RareDiseases
description: 'A deletion in the chromosomal region 5q35 can cause the rare genetic
disorder Sotos syndrome. Sotos syndrome is characterised by psychiatric disorders
(autism, intellectual disability, developmental delay) and excessive growth. Also,
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3 changes: 2 additions & 1 deletion pathways/WP5381/WP5381.md
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Expand Up @@ -21,7 +21,8 @@ authors:
- Larsgw
- Eweitz
citedin: ''
communities: []
communities:
- RareDiseases
description: 'The Smith-Magenis syndrome, is the result from a deletion of chr17:chr17:16,82-18,28,
while the Potocki-Lupski syndrome is the result of a duplication of this area. '
last-edited: 2024-07-22
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3 changes: 2 additions & 1 deletion pathways/WP5399/WP5399.md
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Expand Up @@ -32,7 +32,8 @@ authors:
- Eweitz
- Egonw
citedin: ''
communities: []
communities:
- RareDiseases
description: 'Mutations or loss of NPHP1 cause nephronophthisis (NPHP), a rare genetic
disorder. Due to the involvement of NPHP1 in ciliary function and cellular orientation
in kidney, the main symptoms of the disorder are found in kidney development and
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3 changes: 2 additions & 1 deletion pathways/WP5402/WP5402.md
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Expand Up @@ -18,7 +18,8 @@ authors:
- Eweitz
- Egonw
citedin: ''
communities: []
communities:
- RareDiseases
description: '10q22q23 copy number variation syndrome is a rare genetic syndrome caused
by a deletion or duplication in the region 10q22q23 of chromosome 10. The exact
position (chr10:82,045,472-88,931,651, GRCh37) was taken from Kirov et al. 2014
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3 changes: 2 additions & 1 deletion pathways/WP5405/WP5405.md
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Expand Up @@ -20,7 +20,8 @@ authors:
- Fehrhart
- Eweitz
citedin: ''
communities: []
communities:
- RareDiseases
description: 'Deletion or duplication of the CRYL1 gene located at chromosome 13q12
(chr13:20977806-21100012 (GRCh37)) is a risk factor for psychiatric disorders (Kirov
et al. 2014). '
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3 changes: 2 additions & 1 deletion pathways/WP5406/WP5406.md
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Expand Up @@ -17,7 +17,8 @@ authors:
- Eweitz
- Egonw
citedin: ''
communities: []
communities:
- RareDiseases
description: 'Copy number variations in the region 13q12.12 (exact position: chr13:23555358-24884622
(GRCh37), numbers from Kirov et al. 2014 10.1016/j.biopsych.2013.07.022 and literature
cited there) are rare, pathological mutations in the human genome. It is a risk
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3 changes: 2 additions & 1 deletion pathways/WP5407/WP5407.md
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Expand Up @@ -18,7 +18,8 @@ authors:
- Pklemmer
- Eweitz
citedin: ''
communities: []
communities:
- RareDiseases
description: 'Deletions or duplications of the region 15q11q13 are rare genetic copy
number variations that have an increased risk of neuropsychiatric disorders. The
most reported breakpoints are between chr15:29161368-30375967 (BP3-4) or chr15:29161368-32462776
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3 changes: 2 additions & 1 deletion pathways/WP5408/WP5408.md
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Expand Up @@ -15,7 +15,8 @@ authors:
- Eweitz
- Egonw
citedin: ''
communities: []
communities:
- RareDiseases
description: '15q25.2 or generally 15q25 copy number variations are rare genetic disorders
that cause neuropsychiatric disorders, developmental delay and cardiac abnormalities.
The exact chromosomal position for this pathway (chr15:83219735-85722039, GRCh37)
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3 changes: 2 additions & 1 deletion pathways/WP5409/WP5409.md
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Expand Up @@ -12,7 +12,8 @@ authors:
- Fehrhart
- Eweitz
citedin: ''
communities: []
communities:
- RareDiseases
description: 'PAFAH1B1 located on chromosome 17p13.3 (exact position chr17:2496923-2588909,
GRCh37, position from Kirov et al. 2014 10.1016/j.biopsych.2013.07.022) is responsible
for the rare genetic disorder Miller-Dieker syndrome (MIM # 247200). The most common
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3 changes: 2 additions & 1 deletion pathways/WP5412/WP5412.md
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Expand Up @@ -21,7 +21,8 @@ authors:
- Eweitz
- Egonw
citedin: ''
communities: []
communities:
- RareDiseases
description: 'RB1CC1, located on chromosome 8q11.23, is mainly involved in autophagy
regulation. A loss of function or mutation in the gene can result in increased risk
for schizophrenia (Degenhardt et al. 2013). '
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