Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750747
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 		0.600 GeneticVariation disease CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
CUI: C2750747
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 		0.600 GeneticVariation disease CLINVAR TRPM1 mutations are associated with the complete form of congenital stationary night blindness. 20300565 2010
CUI: C2750747
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 		0.600 GeneticVariation disease CLINVAR TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. 19896113 2009
CUI: C2750747
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 		0.600 GeneticVariation disease UNIPROT TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. 19896113 2009
CUI: C2750747
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 		0.600 Biomarker disease GENOMICS_ENGLAND TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. 19896113 2009
CUI: C2750747
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 		0.600 GeneticVariation disease UNIPROT Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. 19896109 2009
CUI: C2750747
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 		0.600 GeneticVariation disease UNIPROT Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. 19878917 2009
CUI: C2750747
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 		0.600 CausalMutation disease CLINVAR
CUI: C2750747
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C2750747
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 		0.600 Biomarker disease GENOMICS_ENGLAND