Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A
0.310 GeneticVariation disease BEFREE Our study revealed a likely association between homozygous mutations in MITF and WS4, which implies a dosage effect for the underlying pathogenesis mechanism. 30549420 2019
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A
0.310 GermlineCausalMutation disease ORPHANET De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. 30612693 2019