Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.300 Biomarker CLINGEN Novel mutations in the USH1C gene in Usher syndrome patients. 21203349

2010
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.300 Biomarker CLINGEN Two families from New England with usher syndrome type IC with distinct haplotypes. 11239869

2001
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.300 Biomarker CLINGEN A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 10973248

2000
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.300 Biomarker 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