Disease: OROFACIODIGITAL SYNDROME VI ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141153181
rs141153181
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		0.700 GeneticVariation UNIPROT Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies. 27081551 2015
dbSNP: rs141153181
rs141153181
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		0.700 GeneticVariation UNIPROT Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 25846457 2015
dbSNP: rs141153181
rs141153181
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C2745997
Disease:
OROFACIODIGITAL SYNDROME VI 		0.700 GeneticVariation UNIPROT C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014