Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
0.130 GeneticVariation disease BEFREE To describe the early clinical and electrophysiological features of cone-rod dystrophy due to a mutation of cadherin-related family member 1 (CDHR1). 24265541 2013
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
0.130 GeneticVariation disease BEFREE Here we report a novel splice site mutation of CDHR1, c.1485+2T>G, underlying autosomal recessive cone-rod dystrophy in a consanguineous Israeli Christian Arab family. 23233793 2012
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
0.130 GeneticVariation disease BEFREE Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. 20805371 2010
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
0.130 Biomarker disease HPO