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
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.450 Biomarker disease BEFREE Here, we demonstrate, using vascular endothelial-specific and inducible vascular endothelial-specific deletion of Mfsd2a in mice, that Mfsd2a is uniquely required postnatally at the BBB for normal brain growth and DHA accretion, with DHA deficiency preceding the onset of microcephaly. 30074985 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.450 GeneticVariation disease BEFREE Recent studies have implicated MFSD2A mutations in lethal and non-lethal microcephaly syndromes, with the severity correlating to the residual activity of the transporter. 30043326 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.450 Biomarker disease CTD_human Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. 26005868 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.450 GeneticVariation disease BEFREE Here we show that a homozygous mutation affecting a highly conserved MFSD2A residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech. 26005865 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.450 GeneticVariation disease BEFREE Two new studies show that inactivating mutations in MFSD2A, known to be expressed specifically at the blood-brain barrier, lead to microcephaly, thereby offering a simple and surprising solution to an old enigma. 26111510 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.450 Biomarker disease CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.450 GeneticVariation disease BEFREE Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. 26005868 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.450 Biomarker disease HPO
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.310 AlteredExpression disease BEFREE Second, the protein levels of MFSD2A in 11 paired HCC and nontumorous tissues were investigated by western blotting (WB). 31584009 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.310 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 GeneticVariation group BEFREE Here we show that a homozygous mutation affecting a highly conserved MFSD2A residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech. 26005865 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group CTD_human Here we show that a homozygous mutation affecting a highly conserved MFSD2A residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech. 26005865 2015
CUI: C0009090
Disease: Cluttering
Cluttering 		0.300 Biomarker phenotype CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.300 Biomarker group CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
CUI: C0233726
Disease: Aprosodia
Aprosodia 		0.300 Biomarker phenotype CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
CUI: C0751512
Disease: Dysglossia
Dysglossia 		0.300 Biomarker phenotype CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015