NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Disease: JOUBERT SYNDROME 4 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. 22982934 2012
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. 22982934 2012
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 GermlineCausalMutation disease ORPHANET Joubert Syndrome and related disorders. 20615230 2010
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. 15689444 2005
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND F329L polymorphism in the human PAX8 gene. 9382140 1997
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND The role of bradykinin in endotoxic shock of intestinal origin. 266900 1977
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker disease CTD_human
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder) 		0.600 Biomarker disease GENOMICS_ENGLAND