DisGeNET - a database of gene-disease associations

MITF, melanocyte inducing transcription factor, 4286

N. diseases: 244; N. variants: 50

Disease: Papillary Renal Cell Carcinoma ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1306837
Disease:	Papillary Renal Cell Carcinoma

Papillary Renal Cell Carcinoma

0.500

SusceptibilityMutation

disease

ORPHANET

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

22012259

2011

CUI:	C1306837
Disease:	Papillary Renal Cell Carcinoma