KIAA0556, KIAA0556, 23247

N. diseases: 60; N. variants: 4
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		0.010 GeneticVariation disease BEFREE Via exome sequencing, we identified homozygous truncating mutations in both ADGRG1/GPR56 and KIAA0556, which are known to cause BFPP and mild brain-specific JBTS, respectively. 30982090 2019