DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5979
Gene Symbol:	RET

RET

0.200

GeneticVariation

group

CLINVAR

Entrez Id:	23405
Gene Symbol:	DICER1

DICER1

0.120

GeneticVariation

group

CLINVAR

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

SusceptibilityMutation

group

CLINVAR

Entrez Id:	1019
Gene Symbol:	CDK4

CDK4

0.100

CausalMutation

group

CLINVAR

Entrez Id:	1495
Gene Symbol:	CTNNA1

CTNNA1

0.100

GeneticVariation

group

CLINVAR

Entrez Id:	5965
Gene Symbol:	RECQL

RECQL

0.100

GeneticVariation

group

CLINVAR

Entrez Id:	5890
Gene Symbol:	RAD51B

RAD51B

0.100

GeneticVariation

group

CLINVAR

Entrez Id:	23164
Gene Symbol:	MPRIP

MPRIP

0.100

GeneticVariation

group

CLINVAR

Entrez Id:	6605
Gene Symbol:	SMARCE1

SMARCE1

0.100

CausalMutation

group

CLINVAR

Entrez Id:	3077
Gene Symbol:	HFE

HFE

0.100

CausalMutation

group

CLINVAR

Entrez Id:	7516
Gene Symbol:	XRCC2

XRCC2

0.100

GeneticVariation

group

CLINVAR

Entrez Id:	2132
Gene Symbol:	EXT2

EXT2

0.100

CausalMutation

group

CLINVAR

Entrez Id:	4913
Gene Symbol:	NTHL1

NTHL1

0.100

CausalMutation

group

CLINVAR

Entrez Id:	84142
Gene Symbol:	ABRAXAS1

ABRAXAS1

0.100

CausalMutation

group

CLINVAR

Entrez Id:	4286
Gene Symbol:	MITF

MITF

0.100

GeneticVariation

group

CLINVAR

Entrez Id:	114034
Gene Symbol:	TOE1

TOE1

0.100

CausalMutation

group

CLINVAR

Entrez Id:	100048912
Gene Symbol:	CDKN2B-AS1

CDKN2B-AS1

0.100

CausalMutation

group

CLINVAR

Entrez Id:	201163
Gene Symbol:	FLCN

FLCN

0.100

GeneticVariation

group

CLINVAR

Entrez Id:	51023
Gene Symbol:	MRPS18C

MRPS18C

0.100

CausalMutation

group

CLINVAR

Entrez Id:	2176
Gene Symbol:	FANCC

FANCC

0.100

GeneticVariation

group

CLINVAR

Entrez Id:	5965
Gene Symbol:	RECQL

RECQL

0.100

CausalMutation

group

CLINVAR

Entrez Id:	672
Gene Symbol:	BRCA1

BRCA1

0.150

GeneticVariation

group

CLINVAR

Evaporative water loss in box turtles: effects of rostral brainstem and other temperatures.

1111111

1975

Entrez Id:	4292
Gene Symbol:	MLH1

MLH1

0.150

GeneticVariation

group

CLINVAR

The alpha-helix dipole and the properties of proteins.

661956

1978

Entrez Id:	5892
Gene Symbol:	RAD51D

RAD51D

0.100

GeneticVariation

group

CLINVAR

Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold.

6329717

1982

Entrez Id:	4286
Gene Symbol:	MITF

MITF

0.100

CausalMutation

group

CLINVAR

Conformation of cytoplasmic segments of acetylcholine receptor alpha- and beta-subunits probed by monoclonal antibodies: sensitivity of the antibody competition approach.

2440678

1987