rs555821491, LOXL3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Stickler syndrome (disorder)
CUI: C0265253
Disease: Stickler syndrome (disorder)
0.010 GeneticVariation BEFREE In this report, we describe a child and his father who had clinical features consistent with Stickler syndrome and found to have a homozygous novel mutation c.1036C>T (p.Arg346Trp) in LOXL3. 30362103 2019
Stickler syndrome, type 1
CUI: C2020284
Disease: Stickler syndrome, type 1
0.010 GeneticVariation BEFREE In this report, we describe a child and his father who had clinical features consistent with Stickler syndrome and found to have a homozygous novel mutation c.1036C>T (p.Arg346Trp) in LOXL3. 30362103 2019