DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Nephrotic Syndrome ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	57107
Gene Symbol:	PDSS2

PDSS2

CUI:	C0027726
Disease:	Nephrotic Syndrome

Nephrotic Syndrome

0.110

GeneticVariation

BEFREE

Here, we describe for the first time detailed kidney morphology features in a patient with nephrotic syndrome carrying mutations in the PDSS2 gene.

2018

Entrez Id:	57107
Gene Symbol:	PDSS2

PDSS2

CUI:	C0027726
Disease:	Nephrotic Syndrome

Nephrotic Syndrome

0.110

Biomarker

HPO