Source: BEFREE

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: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		disease 1.000 None 1.000 18 1 1967 2019
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 4 0 1967 2016
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0001916
Disease: Albinism
Albinism 		disease 0.330 None 1.000 3 1 1967 2019
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 22 3 1994 2020
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 16 0 1994 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease 0.200 None 1.000 12 1 1994 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C4310625
Disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		disease 0.710 None 1.000 1 0 1994 2016
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0206138
Disease: CREST Syndrome
CREST Syndrome 		disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		disease 0.310 None 1.000 1 0 1997 2017
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0549567
Disease: Pigmentation Disorders
Pigmentation Disorders 		group 0.310 None 1.000 1 0 1997 2017
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease 0.160 None 1.000 6 1 1998 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C4316813
Disease: Dystopia canthorum
Dystopia canthorum 		disease 0.020 None 1.000 2 0 1998 2007
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group 0.010 None 1.000 1 0 1998 1998
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease 0.030 None 1.000 3 1 2000 2017
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0206633
Disease: Angiomyolipoma
Angiomyolipoma 		disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.700 None 0.974 187 7 2002 2020
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.100 None 1.000 41 1 2002 2020
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue 		disease 0.090 None 1.000 9 0 2002 2020
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.500 None 1.000 14 2 2003 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C4525234
Disease: Xiphophorus Melanoma
Xiphophorus Melanoma 		disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease 0.030 None 1.000 3 0 2004 2017
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		disease 0.030 None 1.000 3 0 2004 2017
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype 0.100 None 1.000 12 0 2005 2020