Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly
0.300 Biomarker disease CTD_human Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 16740914 2006
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly
0.300 Biomarker disease CTD_human Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. 15024694 2004
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly
0.300 Biomarker disease CTD_human Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 14634649 2003