Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GeneticVariation UNIPROT Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysplasia (CED). 29220510

2018
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GeneticVariation BEFREE Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. 29134781

2018
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GeneticVariation BEFREE Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. 28332779

2017
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GeneticVariation CLINVAR Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. 26792575

2016
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GeneticVariation BEFREE Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. 26792575

2016
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GeneticVariation UNIPROT Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. 26792575

2016
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GeneticVariation CLINVAR Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. 23826986

2014
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GeneticVariation UNIPROT Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. 24689072

2014
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GeneticVariation UNIPROT Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. 23826986

2014
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 Biomarker GENOMICS_ENGLAND Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. 23826986

2014
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GermlineCausalMutation ORPHANET Ciliary disorder of the skeleton. 22791528

2012
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GermlineCausalMutation ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135

2011
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 Biomarker GENOMICS_ENGLAND Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 20493458

2010
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GeneticVariation CLINVAR Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 20493458

2010
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 GeneticVariation UNIPROT Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 20493458

2010
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 Biomarker GENOMICS_ENGLAND Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4. 19000668

2009
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 CausalMutation CLINVAR

Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 Biomarker GENOMICS_ENGLAND

Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 Biomarker GENOMICS_ENGLAND

Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 Biomarker CTD_human

Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1 		0.730 Biomarker GENOMICS_ENGLAND

Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.400 Biomarker CTD_human Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 20493458

2010
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.400 Biomarker CTD_human Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 20493458

2010
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.400 Biomarker HPO

Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.400 Biomarker HPO