Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280974
Disease: TRIGONOCEPHALY 2
TRIGONOCEPHALY 2
0.600 GeneticVariation disease UNIPROT Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 21931569 2011
CUI: C3280974
Disease: TRIGONOCEPHALY 2
TRIGONOCEPHALY 2
0.600 Biomarker disease GENOMICS_ENGLAND Micro-ablepharon of the upper eyelids and vaginal atresia. 11332973 2001
CUI: C3280974
Disease: TRIGONOCEPHALY 2
TRIGONOCEPHALY 2
0.600 CausalMutation disease CLINVAR