DisGeNET - a database of gene-disease associations

OFD1, OFD1 centriole and centriolar satellite protein, 8481

N. diseases: 261; N. variants: 125

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

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

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

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

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

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C1510460
Disease:

Orofaciodigital Syndrome I

0.800

CausalMutation

CLINVAR

dbSNP:

rs312262818

Entrez Id:	6399;8481
Gene Symbol:	TRAPPC2;OFD1

TRAPPC2;OFD1

CUI:	C0431399
Disease:

Familial aplasia of the vermis

0.700

CausalMutation

CLINVAR

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

28289185

2017

dbSNP:

rs1555907034

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0026827
Disease:

Muscle hypotonia

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

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0026650
Disease:

Movement Disorders

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:

rs1569102786

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0431399
Disease:

Familial aplasia of the vermis

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:

rs312262894

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C2749019
Disease:

JOUBERT SYNDROME 10 (disorder)

0.700

CausalMutation

CLINVAR

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

dbSNP:

rs797044945

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0431399
Disease:

Familial aplasia of the vermis

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:

rs863225211

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C2749019
Disease:

JOUBERT SYNDROME 10 (disorder)

0.700

CausalMutation

CLINVAR

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

dbSNP:

rs863225212

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C2749019
Disease:

JOUBERT SYNDROME 10 (disorder)

0.700

CausalMutation

CLINVAR

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

dbSNP:

rs863225213

Entrez Id:	6399;8481
Gene Symbol:	TRAPPC2;OFD1

TRAPPC2;OFD1

CUI:	C2749019
Disease:

JOUBERT SYNDROME 10 (disorder)

0.700

CausalMutation

CLINVAR

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

dbSNP:

rs1555907034

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Simpson-Golabi-Behmel syndrome types I and II.

25238977

2014

dbSNP:

rs1555907034

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Simpson-Golabi-Behmel syndrome types I and II.

25238977

2014

dbSNP:

rs1555907034

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

24884629

2014

dbSNP:

rs1555907034

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

24884629

2014

dbSNP:

rs1569128307

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0431399
Disease:

Familial aplasia of the vermis

0.700

CausalMutation

CLINVAR

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

24884629

2014

dbSNP:

rs312262830

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C2749019
Disease:

JOUBERT SYNDROME 10 (disorder)

0.700

CausalMutation

CLINVAR

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

24884629

2014

dbSNP:

rs312262830

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C4021085
Disease:

Abnormality of brain morphology

0.700

CausalMutation

CLINVAR

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

24884629

2014

dbSNP:

rs1555907034

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0026650
Disease:

Movement Disorders

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

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0026827
Disease:

Muscle hypotonia

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:

rs797044945

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

CUI:	C0431399
Disease:

Familial aplasia of the vermis

0.700

CausalMutation

CLINVAR

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

23036093

2013