Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schizoaffective Disorder
CUI: C0036337
Disease: Schizoaffective Disorder
0.010 GeneticVariation BEFREE Following screening of the gene in 60 independent cases of schizoaffective disorder, we report novel germ-line mutations at positions -205 C > T and the conserved exon 5 (c: 682 C > T, pro228ser) in two unrelated cases of schizoaffective disorder. 19760677 2010
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
0.010 GeneticVariation BEFREE Histological analysis of skin sections from a cutis laxa patient with a homozygous S227P mutation showed a lack of fibulin-5 in the extracellular matrix and a concomitant disorganization of dermal elastic fibers. 17035250 2006