Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4286
Gene Symbol: MITF
MITF
0.030 GeneticVariation disease BEFREE Besides hypopigmentation and bilateral HL, the homozygous mutant pig (MITF <sup>L247S/L247S</sup>) and CRISPR/Cas9-mediated MITF bi-allelic knockout pigs both exhibited anophthalmia. 29094203 2017
Entrez Id: 4286
Gene Symbol: MITF
MITF
0.030 GeneticVariation disease BEFREE Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS). 23787126 2013
Entrez Id: 4286
Gene Symbol: MITF
MITF
0.030 GeneticVariation disease BEFREE Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. 10851256 2000