Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency. 29073591 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. 28390077 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. 25914166 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome. 22317973 2012
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 18470943 2008
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR HRAS and the Costello syndrome. 17250658 2007
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. 16155195 2006
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316 2005
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Costello syndrome and neurological abnormalities. 14608654 2003
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Further delineation of cardiac abnormalities in Costello syndrome. 12210337 2002