COL12A1, collagen type XII alpha 1 chain, 1303

N. diseases: 93; N. variants: 15
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.300 Biomarker disease GENOMICS_ENGLAND Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. 27348394 2017