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GENE - TERM ANNOTATION REPORT

RGD ID: 2318759
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ift140
Name: intraflagellar transport 140
Acc ID: DOID:0110097
Term: short-rib thoracic dysplasia 9 with or without polydactyly
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22503633
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:16054137240710OMIM  
 ISORGD:16054138554872ClinVarClinVar Annotator: match by OMIM:266920

 
 ISORGD:16054138554872ClinVarClinVar Annotator: match by OMIM:266920

PMID:23418020
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

PMID:22503633
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

PMID:22503633, PMID:23418020, PMID:26968735
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

PMID:22503633, PMID:24698627, PMID:26359340
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

PMID:22503633, PMID:28288023, PMID:28492532, PMID:28724397, PMID:29068549, PMID:29688594
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

PMID:22503633, PMID:29068549
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

PMID:23418020, PMID:25741868
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

PMID:23418020, PMID:29068549, PMID:29688594
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

PMID:26216056, PMID:28492532
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

PMID:28288023
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

PMID:28492532
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

PMID:29688594
 ISORGD:16054138554872ClinVarClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly

PMID:23418020, PMID:29688594
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.