DisGeNET - a database of gene-disease associations

MITF, melanocyte inducing transcription factor, 4286

N. diseases: 244; N. variants: 50

Disease: Constipation ×

Variant: rs149617956 ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs149617956

Entrez Id:	4286
Gene Symbol:	MITF

MITF

CUI:	C0009806
Disease:

Constipation

0.700

CausalMutation

CLINVAR

Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

26650189

2016

dbSNP:

rs149617956

Entrez Id:	4286
Gene Symbol:	MITF

MITF

CUI:	C0009806
Disease:

Constipation

0.700

CausalMutation

CLINVAR

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

25803691

2015

dbSNP:

rs149617956

Entrez Id:	4286
Gene Symbol:	MITF

MITF

CUI:	C0009806
Disease:

Constipation

0.700

CausalMutation

CLINVAR

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

23167872

2013

dbSNP:

rs149617956

Entrez Id:	4286
Gene Symbol:	MITF

MITF

CUI:	C0009806
Disease:

Constipation

0.700

CausalMutation

CLINVAR

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

22012259

2011