GCOM1, GRINL1A complex locus 1, 145781

N. diseases: 13; N. variants: 3
Disease: Shprintzen syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.010 Biomarker disease BEFREE The autoantibodies colocalized with commercial antibodies to desmoplakins I and II, p0071, armadillo repeat gene deleted in velo-cardio-facial syndrome (ARCVF) and myocardium-enriched zonula occludens-1-associated protein (MYZAP) (P < 0.01). 29768670 2018