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: rs312262818
rs312262818
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 0.700 CausalMutation CLINVAR Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 28289185 2017
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: rs797044945
rs797044945
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
dbSNP: rs1569128307
rs1569128307
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		C 0.700 CausalMutation CLINVAR CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24884629 2014
dbSNP: rs797044945
rs797044945
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. 23036093 2013
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: rs312262818
rs312262818
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 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: rs312262845
rs312262845
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		C 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: 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
dbSNP: rs1060500123
rs1060500123
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation 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: rs1555902866
rs1555902866
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1569141500
rs1569141500
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1569163423
rs1569163423
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs1569164733
rs1569164733
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1569164829
rs1569164829
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs312262890
rs312262890
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs769923969
rs769923969
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 0.700 GeneticVariation CLINVAR