Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500123
rs1060500123
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060500123
rs1060500123
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs122460150
rs122460150
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555900675
rs1555900675
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555900734
rs1555900734
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		TTAAAAGAGCTGC 0.700 GeneticVariation CLINVAR
dbSNP: rs1555901137
rs1555901137
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555901146
rs1555901146
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555901169
rs1555901169
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555902640
rs1555902640
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1555902640
rs1555902640
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1555902866
rs1555902866
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555902866
rs1555902866
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555904480
rs1555904480
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly. 27081566 2016
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation 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
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR The molecular basis of oral-facial-digital syndrome, type 1. 19876934 2009
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. 22353940 2012
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR 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: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Evidence for a new locus for X-linked retinitis pigmentosa (RP23). 10892847 2000
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The molecular basis of oral-facial-digital syndrome, type 1. 19876934 2009
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297 2008
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Simpson-Golabi-Behmel syndrome types I and II. 25238977 2014
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation 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
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. 15466260 2004
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis. 15466260 2004