Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 25846457

2015
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461

2015
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751

2014
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 22236771

2012
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360

2012
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. 21679365

2011