Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker GENOMICS_ENGLAND Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. 22982934

2012
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker GENOMICS_ENGLAND Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. 22982934

2012
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 GermlineCausalMutation ORPHANET Joubert Syndrome and related disorders. 20615230

2010
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker GENOMICS_ENGLAND NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. 15689444

2005
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker GENOMICS_ENGLAND F329L polymorphism in the human PAX8 gene. 9382140

1997
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker GENOMICS_ENGLAND The role of bradykinin in endotoxic shock of intestinal origin. 266900

1977
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker CTD_human

Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker GENOMICS_ENGLAND