SLC1A4, solute carrier family 1 member 4, 6509

N. diseases: 40; N. variants: 17
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 Biomarker disease GENOMICS_ENGLAND A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study. 29989513 2018
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 GermlineCausalMutation disease ORPHANET A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. 25930971 2015
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 GeneticVariation disease UNIPROT A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. 25930971 2015
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 Biomarker disease GENOMICS_ENGLAND A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. 25930971 2015
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 GeneticVariation disease UNIPROT Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. 26041762 2015
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 GermlineCausalMutation disease ORPHANET Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. 26041762 2015
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 GeneticVariation disease UNIPROT SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. 26138499 2015
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 Biomarker disease GENOMICS_ENGLAND A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. 25930971 2015
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 GermlineCausalMutation disease ORPHANET SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. 26138499 2015
CUI: C4225254
Disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 		0.700 CausalMutation disease CLINVAR