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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Rare Disease
Colonic Atresia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Colonic Atresia is related to hirschsprung disease 1 and gastroschisis. Affiliated tissues include colon and spinal cord, and related phenotypes are peptic ulcer and colonic atresia
Related ID:
MALACARDS:CLN022
OMIM:303650
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Antenatal
1-9/100000
--
--
2
CLN022
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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