Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 GeneticVariation BEFREE Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations. 27604145

2016
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 GeneticVariation 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
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 GeneticVariation BEFREE On rare occasions, mutations in MITF lead to Tietz syndrome (TS), which is characterized by a severe WS2 phenotype. 20485200

2010
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 GeneticVariation BEFREE This family was reascertained and a missense mutation was found in the basic region of the MITF gene in family members with Tietz syndrome. 10851256

2000