Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.480 Biomarker GENOMICS_ENGLAND Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.480 Biomarker GENOMICS_ENGLAND Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010