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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
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Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
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Rare Disease
Retinitis Pigmentosa 93 (RP93)
Alias:
Rp93
Retinitis Pigmentosa, Type 93
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Description
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 93, is also known as rp93. An important gene associated with Retinitis Pigmentosa 93 is CC2D2A (Coiled-Coil And C2 Domain Containing 2A). Related phenotypes are reduced visual acuity and rod-cone dystrophy
Related ID:
MALACARDS:RTN239
OMIM:619845
MESH:D012174
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
1
6
1
RTN239
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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
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