MAGEC3, MAGE family member C3, 139081

N. diseases: 23; N. variants: 1
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345407
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		0.030 GeneticVariation disease BEFREE Carbonic anhydrase II deficiency syndrome or Marble brain disease (MBD) is caused by autosomal recessive mutations in the human carbonic anhydrase II (HCA II) gene. 19415900 2009
CUI: C0345407
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		0.030 GeneticVariation disease BEFREE Marble brain disease (MBD) also known as Guibaud-Vainsel syndrome is caused by autosomal recessive mutations in the human carbonic anhydrase II (HCA II) gene. 18189416 2008
CUI: C0345407
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 		0.030 GeneticVariation disease BEFREE The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene. 15327960 2004