Details of Disease

General Information of Disease (ID: DISE1NJQ)

Disease Name Global developmental delay with speech and behavioral abnormalities
Synonyms GDSBA
Disease Hierarchy
DISYKSRF: Genetic disease
DISE1NJQ: Global developmental delay with speech and behavioral abnormalities
Disease Identifiers
MONDO ID
MONDO_0030995
UMLS CUI
C5543226
OMIM ID
619243
MedGen ID
1787991

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TNRC6B OTGVT0SH Strong Autosomal dominant [1]
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References

1 Evaluation of GWAS candidate susceptibility loci for uterine leiomyoma in the multi-ethnic NIEHS uterine fibroid study. Front Genet. 2015 Jul 14;6:241. doi: 10.3389/fgene.2015.00241. eCollection 2015.