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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:0050592
Term: asphyxiating thoracic dystrophy
Definition: A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.
Definition Source(s): MESH:D012779, https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy
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:16054138554872ClinVarClinVar Annotator: match by term: Jeune thoracic dystrophy

PMID:29068549
 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:29068549, PMID:29688594
 ISORGD:160541311554173CTDCTD Direct Evidence: marker/mechanism

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