wikimedia
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Table
SPARQL
Graphs
1
1
Services
1
1
Assets
0
0
Insights
Schema
BETA
Class frequency
Class hierarchy
Q34896062-35820EF4-5846-4139-B851-2B613CE783D0
Q34896062-35820EF4-5846-4139-B851-2B613CE783D0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34896062-35820EF4-5846-4139-B851-2B613CE783D0
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement
P2860
Q34896062-35820EF4-5846-4139-B851-2B613CE783D0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34896062-35820EF4-5846-4139-B851-2B613CE783D0
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
54a1e37b6e155d8c9b93e0993333d6c182460844
P2860
Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome