Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 Biomarker GENOMICS_ENGLAND Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders. 26748598

2016
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 Biomarker GENOMICS_ENGLAND Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders. 26748598

2016
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 Biomarker GENOMICS_ENGLAND Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033

2013
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 Biomarker GENOMICS_ENGLAND Previous studies have implicated primary cilia abnormalities in Joubert syndrome, yet the role of INPP5E in cilia formation is not well understood. 23022135

2012