Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4286
Gene Symbol: MITF
MITF
0.020 GeneticVariation disease BEFREE MITF point mutations have been identified in 10-15% of individuals affected with WS Type 2 (lacking dystopia canthorum). 17627390 2007
Entrez Id: 4286
Gene Symbol: MITF
MITF
0.020 Biomarker disease BEFREE Presence of dystopia canthorum is indicative of WS type 1 and results from defects in the PAX3 gene, whereas normally located medial canthi is characteristic of type 2 WS (WS2) and is associated with defects in the microphthalmia-associated transcription factor (MIFT) gene. 9584079 1998