Genitourinary and/or Brain Malformation Syndrome (GUBS)

Alias:
Genitourinary and/or/brain Malformation Syndrome
Gubs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Genitourinary and/or Brain Malformation Syndrome, also known as genitourinary and/or/brain malformation syndrome, is related to pseudovaginal perineoscrotal hypospadias. An important gene associated with Genitourinary and/or Brain Malformation Syndrome is PPP1R12A (Protein Phosphatase 1 Regulatory Subunit 12A). Affiliated tissues include brain and uterus, and related phenotypes are hypospadias and cryptorchidism
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
9
2

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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