MEGF8, multiple EGF like domains 8, 1954

N. diseases: 89; N. variants: 5
Disease: CARPENTER SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554247
Disease: CARPENTER SYNDROME 2
CARPENTER SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. 23063620 2012
CUI: C3554247
Disease: CARPENTER SYNDROME 2
CARPENTER SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. 23063620 2012
CUI: C3554247
Disease: CARPENTER SYNDROME 2
CARPENTER SYNDROME 2 		0.600 CausalMutation disease CLINVAR