Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes
0.020 GeneticVariation disease BEFREE Some limited pyramidal involvement also occurs in patients with an autosomal recessive neurocutaneous syndrome due to ALDH18A1 mutations. 26026163 2015
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes
0.020 GeneticVariation disease BEFREE A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 18478038 2008