Disease: Tietz syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 27889061 2016
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 27889061 2016
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 CausalMutation disease CLINVAR Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. 27473757 2016
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 GeneticVariation disease BEFREE Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations. 27604145 2016
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 CausalMutation disease CLINVAR MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. 23787126 2013
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 CausalMutation disease CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872 2013
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 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
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 CausalMutation disease CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 CausalMutation disease CLINVAR A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 GeneticVariation disease BEFREE On rare occasions, mutations in MITF lead to Tietz syndrome (TS), which is characterized by a severe WS2 phenotype. 20485200 2010
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 Biomarker disease MGD Novel ENU-induced eye mutations in the mouse: models for human eye disease. 11929848 2002
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 Biomarker disease MGD Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus. 10886015 2000
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 GeneticVariation disease 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
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 GermlineCausalMutation disease ORPHANET Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. 10851256 2000
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 GeneticVariation disease UNIPROT Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. 10851256 2000
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 Biomarker disease MGD Mitfmi-enu122 is a missense mutation in the HLH dimerization domain. 9501313 1998
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 Biomarker disease MGD Mast cells in spotted mutant mice (W Ph mi). 6127714 1982
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 Biomarker disease MGD The relationship between abnormalities of pigmentation and of the inner ear. 4392283 1970
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 Biomarker disease MGD The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus. 4963367 1967
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 Biomarker disease CTD_human
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		0.940 GeneticVariation disease CLINVAR