Disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554689313
rs1554689313
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
CUI: C4693546
Disease:
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 		0.800 GeneticVariation UNIPROT A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype. 29369404 2018
dbSNP: rs1554689313
rs1554689313
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
CUI: C4693546
Disease:
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 		0.800 GeneticVariation UNIPROT GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. 28856709 2017
dbSNP: rs1554689313
rs1554689313
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
CUI: C4693546
Disease:
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 		0.800 GeneticVariation UNIPROT Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
dbSNP: rs1554689313
rs1554689313
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
CUI: C4693546
Disease:
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 		T 0.800 CausalMutation CLINVAR