HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 698; N. variants: 29
Disease: Cardio-facio-cutaneous syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.010 GeneticVariation BEFREE We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). 17324647 2007
dbSNP: rs1434040739
rs1434040739
Entrez Id: 3265;115399;101059906
Gene Symbol: HRAS;LRRC56;LOC101059906
HRAS;LRRC56;LOC101059906
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.010 GeneticVariation BEFREE We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. 17875937 2007