rs104894226, LRRC56;HRAS

N. diseases: 29
Disease: Noonan syndrome-like disorder with loose anagen hair ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan syndrome-like disorder with loose anagen hair
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
0.010 GeneticVariation BEFREE The facial and hair abnormalities of the HRAS p.Gly13Asp individuals differ from the typical pattern observed in those showing the common HRAS (p.Gly12Ser) mutation, with less coarse facial features and slow growing, sparse hair with abnormal texture, the latter resembling the pattern observed in Noonan syndrome-like disorder with loose anagen hair and individuals harboring another amino acid substitution in HRAS (p.Gly13Cys). 28371260 2017