Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.310 Biomarker GENOMICS_ENGLAND Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family. 29377742

2018
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.310 Biomarker GENOMICS_ENGLAND Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461

2014