Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		disease 0.940 None 1.000 1 0 1967 2016
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		disease 0.800 definitive 1.000 1 0 1994 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		disease 0.700 None 1.000 2 0 2011 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) 		disease 0.700 None 1.000 1 0 1967 2016
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		disease 0.700 strong 0.971 1 0 1994 2020
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		disease 0.500 None 1.000 1 0 2011 2011
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		disease 0.310 None 1.000 1 0 2019 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C4518333
Disease: Clear cell papillary renal cell carcinoma
Clear cell papillary renal cell carcinoma 		disease 0.300 None 1.000 1 0 2011 2011