Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461

2014
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745

2014
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096

2014