Disease: Orofaciodigital Syndrome I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039860
rs886039860
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		0.800 GeneticVariation UNIPROT Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. 23033313 2013
dbSNP: rs886039860
rs886039860
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		0.800 GeneticVariation UNIPROT Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. 16397067 2006
dbSNP: rs886039860
rs886039860
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		0.800 GeneticVariation UNIPROT OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. 12595504 2003
dbSNP: rs886039860
rs886039860
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		0.800 GeneticVariation UNIPROT Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. 11950863 2002
dbSNP: rs886039860
rs886039860
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		0.800 GeneticVariation UNIPROT Identification of the gene for oral-facial-digital type I syndrome. 11179005 2001
dbSNP: rs886039860
rs886039860
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		G 0.800 CausalMutation CLINVAR