DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Renal cyst ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.200

GeneticVariation

CLINVAR

Entrez Id:	5314
Gene Symbol:	PKHD1

PKHD1

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.150

CausalMutation

CLINVAR

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.110

GeneticVariation

CLINVAR

Entrez Id:	100506134
Gene Symbol:	TTC21B-AS1

TTC21B-AS1

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.100

CausalMutation

CLINVAR

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

26940125

2017

Entrez Id:	79809
Gene Symbol:	TTC21B

TTC21B

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.100

CausalMutation

CLINVAR

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

26940125

2017

Entrez Id:	100506134
Gene Symbol:	TTC21B-AS1

TTC21B-AS1

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.100

CausalMutation

CLINVAR

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

24876116

2014

Entrez Id:	79809
Gene Symbol:	TTC21B

TTC21B

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.100

CausalMutation

CLINVAR

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

24876116

2014

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.100

GeneticVariation

CLINVAR

Entrez Id:	10847
Gene Symbol:	SRCAP

SRCAP

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.100

CausalMutation

CLINVAR

Entrez Id:	7273
Gene Symbol:	TTN

TTN

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.100

GeneticVariation

CLINVAR

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.100

GeneticVariation

CLINVAR

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.100

GeneticVariation

CLINVAR

Entrez Id:	8239
Gene Symbol:	USP9X

USP9X

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.100

GeneticVariation

CLINVAR