Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24884629 2014
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026827
Disease:
Muscle hypotonia 		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 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: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). 22619378 2012
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: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Are the oral-facial-digital syndromes ciliopathies? 19396822 2009
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 19800048 2009
dbSNP: rs1555907034
rs1555907034
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0026827
Disease:
Muscle hypotonia 		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 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: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. 16311594 2006
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
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