MAGEC3, MAGE family member C3, 139081

N. diseases: 23; N. variants: 1
Disease: Metabolic Bone Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		0.020 GeneticVariation group 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: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		0.020 GeneticVariation group 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