Disease: Overgrowth ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. 26944241 2016
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. 23644463 2013
dbSNP: rs946006593
rs946006593
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012