DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Abnormal renal function ×

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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:	55083
Gene Symbol:	KIF26B

KIF26B

CUI:	C0151746
Disease:	Abnormal renal function

Abnormal renal function

0.100

CausalMutation

CLINVAR

Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.

26571382

2015

Entrez Id:	5076
Gene Symbol:	PAX2

PAX2

CUI:	C0151746
Disease:	Abnormal renal function

Abnormal renal function

0.100

CausalMutation

CLINVAR

Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.

26571382

2015

Entrez Id:	9949
Gene Symbol:	AMMECR1

AMMECR1

CUI:	C0151746
Disease:	Abnormal renal function

Abnormal renal function

0.100

CausalMutation

CLINVAR