Disease: USHER SYNDROME, TYPE IA, FORMERLY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker disease CLINGEN Novel mutations in the USH1C gene in Usher syndrome patients. 21203349 2010
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker disease CLINGEN Two families from New England with usher syndrome type IC with distinct haplotypes. 11239869 2001
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker disease CLINGEN A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 10973248 2000
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker disease CLINGEN A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. 10973247 2000