Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. 26005868 2015
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of microcephalin, a protein implicated in determining the size of the human brain. 12046007 2002
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR