Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
0.400 Biomarker phenotype CTD_human Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. 17704776 2007
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
0.400 Biomarker phenotype HPO