Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151752
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED
NYSTAGMUS 6, CONGENITAL, X-LINKED
0.700 Biomarker disease GENOMICS_ENGLAND A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. 19390656 2009
CUI: C3151752
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED
NYSTAGMUS 6, CONGENITAL, X-LINKED
0.700 GeneticVariation disease UNIPROT Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. 17516023 2007
CUI: C3151752
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED
NYSTAGMUS 6, CONGENITAL, X-LINKED
0.700 CausalMutation disease CLINVAR
CUI: C3151752
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED
NYSTAGMUS 6, CONGENITAL, X-LINKED
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151752
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED
NYSTAGMUS 6, CONGENITAL, X-LINKED
0.700 Biomarker disease CTD_human
CUI: C3151752
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED
NYSTAGMUS 6, CONGENITAL, X-LINKED
0.700 Biomarker disease GENOMICS_ENGLAND Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. 21541274 2011