DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 ×

Gene: NPHP3 ×

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:	27031
Gene Symbol:	NPHP3

NPHP3

CUI:	C3715199
Disease:	RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

0.700

Biomarker

GENOMICS_ENGLAND

Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation.

23686967

2013

Entrez Id:	27031
Gene Symbol:	NPHP3

NPHP3

CUI:	C3715199
Disease:	RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

0.700

Biomarker

GENOMICS_ENGLAND

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

12872122

2003

Entrez Id:	27031
Gene Symbol:	NPHP3

NPHP3

CUI:	C3715199
Disease:	RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

0.700

Biomarker

GENOMICS_ENGLAND

Entrez Id:	27031
Gene Symbol:	NPHP3

NPHP3

CUI:	C3715199
Disease:	RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

0.700

Biomarker

GENOMICS_ENGLAND