Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.430 GeneticVariation disease BEFREE Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. 26199944 2016
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.430 Biomarker disease LHGDN FGF and FGFR may have a role in cleft lip and cleft palate 17963255 2008
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.430 Biomarker disease CTD_human Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. 17963255 2008
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.430 Biomarker disease LHGDN FGF3, FGF7, FGF10, FGF18, and FGFR1 may have roles in nonsyndromic cleft lip and palate 17360555 2007
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.430 Biomarker disease HPO