Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
0.400 Biomarker phenotype GENOMICS_ENGLAND Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. 30014610 2018
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
0.400 Biomarker phenotype HPO
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
0.400 CausalMutation phenotype CLINVAR