Disease: Familial aplasia of the vermis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569102786
rs1569102786
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 GeneticVariation CLINVAR Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly. 27081566 2016
dbSNP: rs1569102786
rs1569102786
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 GeneticVariation CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297 2008
dbSNP: rs1569102786
rs1569102786
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 GeneticVariation CLINVAR A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. 16783569 2006