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GENE - TERM ANNOTATION REPORT

RGD ID: 620021
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ihh
Name: Indian hedgehog signaling molecule
Acc ID: DOID:0110964
Term: brachydactyly type A1
Definition: A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12525541, https://www.ncbi.nlm.nih.gov/pubmed/14043746
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:13503681600032RGDDNA:missense mutations:CDS:p.E95K (283G>A), p.D100E (300C>A), p.E131K (391G>A) (human)

 
 ISORGD:13503687240710OMIM  
 ISORGD:13503688554872ClinVarClinVar Annotator: match by OMIM:112500

PMID:11455389
 ISORGD:13503688554872ClinVarClinVar Annotator: match by OMIM:112500

PMID:11455389, PMID:12525541
 ISORGD:13503688554872ClinVarClinVar Annotator: match by OMIM:112500

PMID:11455389, PMID:18794898, PMID:19252479
 ISORGD:13503688554872ClinVarClinVar Annotator: match by OMIM:112500

PMID:11455389, PMID:19277064
 ISORGD:13503688554872ClinVarClinVar Annotator: match by OMIM:112500

PMID:12384778, PMID:12566523, PMID:14043746, PMID:15886999, PMID:17486609, PMID:19277064
 ISORGD:13503688554872ClinVarClinVar Annotator: match by OMIM:112500

PMID:16871364
 ISORGD:13503688554872ClinVarClinVar Annotator: match by OMIM:112500

PMID:18629882
 ISORGD:13503688554872ClinVarClinVar Annotator: match by OMIM:112500

PMID:19277064
 ISORGD:135036811535949RGDDNA:deletion, missense mutation:exon:p.E95del (c.283_285delGAG), p.D100E (c.300C>G) (human)

 
 ISORGD:135036812910944RGDDNA:missense mutation: :p.T154I (461C>T) (human)

 
 ISORGD:135036812910945RGDDNA:missense mutation: :p.N100D (298G>A) (human)

 
 ISORGD:135036812910964RGDDNA:missense mutations:exon:p.R128Q (c.383G>A), p.T130N (c.389C>A) (human)

 
 ISORGD:135036812910965RGDDNA:deletion:exon:p.E95del (c.283_285delGAG) (human)

 
 ISORGD:135036812910970RGDDNA:missense mutation:exon:p.158R>C (c.472C>T) (human)

 
 ISORGD:135036812910974RGDDNA:missense mutation:exon:p.E95G (284A>G) (human)

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