Disease Term Disease ID Gene Symbol Classification References Source
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY C4225254 SLC1A4 Causal Pathogenic evidence from ClinVar 25930971, 26041762, 26138499, 29989513 ClinVar
LINC02245 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 447997 SLC1A4 Causal Pathogenic evidence from ClinVar - ClinVar