DisGeNET - a database of gene-disease associations

Multiple renal cysts, C0431718

Source: ALL

Results per page

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:	7428
Gene Symbol:	VHL

VHL

0.400

Biomarker

disease

GENOMICS_ENGLAND

Genetic predisposition to kidney cancer.

27899189

2016

Entrez Id:	7428
Gene Symbol:	VHL

VHL

0.400

Biomarker

disease

HPO

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

0.110

GeneticVariation

disease

BEFREE

This patient therefore illustrates that clinical manifestations of TSC are sufficiently diverse as to allow a forme fruste of TSC that mimics sporadic LAM and that TSC1 mutation can cause multiple renal cysts resulting in renal failure.

15257730

2004

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

0.110

Biomarker

disease

HPO

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

0.100

CausalMutation

disease

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

26938784

2016

Entrez Id:	2317
Gene Symbol:	FLNB

FLNB

0.100

Biomarker

disease

HPO

Entrez Id:	7353
Gene Symbol:	UFD1

UFD1

0.100

Biomarker

disease

HPO

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	9031
Gene Symbol:	BAZ1B

BAZ1B

0.100

Biomarker

disease

HPO

Entrez Id:	7249
Gene Symbol:	TSC2

TSC2

0.100

Biomarker

disease

HPO

Entrez Id:	5194
Gene Symbol:	PEX13

PEX13

0.100

Biomarker

disease

HPO

Entrez Id:	168667
Gene Symbol:	BMPER

BMPER

0.100

Biomarker

disease

HPO

Entrez Id:	421
Gene Symbol:	ARVCF

ARVCF

0.100

Biomarker

disease

HPO

Entrez Id:	10297
Gene Symbol:	APC2

APC2

0.100

Biomarker

disease

HPO

Entrez Id:	1282
Gene Symbol:	COL4A1

COL4A1

0.100

Biomarker

disease

HPO

Entrez Id:	5982
Gene Symbol:	RFC2

RFC2

0.100

Biomarker

disease

HPO

Entrez Id:	9569
Gene Symbol:	GTF2IRD1

GTF2IRD1

0.100

Biomarker

disease

HPO

Entrez Id:	4952
Gene Symbol:	OCRL

OCRL

0.100

Biomarker

disease

HPO

Entrez Id:	6299
Gene Symbol:	SALL1

SALL1

0.100

Biomarker

disease

HPO

Entrez Id:	221037
Gene Symbol:	JMJD1C

JMJD1C

0.100

Biomarker

disease

HPO

Entrez Id:	7461
Gene Symbol:	CLIP2

CLIP2

0.100

Biomarker

disease

HPO

Entrez Id:	4041
Gene Symbol:	LRP5

LRP5

0.100

Biomarker

disease

HPO

Entrez Id:	5373
Gene Symbol:	PMM2

PMM2

0.100

Biomarker

disease

HPO

Entrez Id:	6899
Gene Symbol:	TBX1

TBX1

0.100

Biomarker

disease

HPO

Entrez Id:	2969
Gene Symbol:	GTF2I

GTF2I

0.100

Biomarker

disease

HPO