Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554062562
rs1554062562
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio. 28928363 2017
dbSNP: rs1554062562
rs1554062562
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly. 27418539 2016
dbSNP: rs1554062562
rs1554062562
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. 26721934 2016
dbSNP: rs1554062562
rs1554062562
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs1554062562
rs1554062562
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760 2014
dbSNP: rs1554062562
rs1554062562
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Clinical significance of de novo and inherited copy-number variation. 24038936 2013
dbSNP: rs1554062562
rs1554062562
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs1554062562
rs1554062562
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306 2012
dbSNP: rs1554062562
rs1554062562
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains. 8643598 1996