Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 1350368
Species: Homo sapiens
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 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/14043746 "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
IHH IAGP 1600032RGDDNA:missense mutations:CDS:p.E95K (283G>A), p.D100E (300C>A), p.E131K (391G>A) (human) 
IHH IAGP 11535949RGDDNA:deletion, missense mutation:exon:p.E95del (c.283_285delGAG), p.D100E (c.300C>G) (human) 
IHH IAGP 12910944RGDDNA:missense mutation: :p.T154I (461C>T) (human) 
IHH IAGP 12910945RGDDNA:missense mutation: :p.N100D (298G>A) (human) 
IHH IAGP 12910964RGDDNA:missense mutations:exon:p.R128Q (c.383G>A), p.T130N (c.389C>A) (human) 
IHH IAGP 12910965RGDDNA:deletion:exon:p.E95del (c.283_285delGAG) (human) 
IHH IAGP 12910970RGDDNA:missense mutation:exon:p.158R>C (c.472C>T) (human) 
IHH IAGP 12910974RGDDNA:missense mutation:exon:p.E95G (284A>G) (human) 
IHH IAGP 7240710OMIM  
IHH EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
IHH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1PMID:28492532
IHH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar Annotator: match by term: IHH-related conditionPMID:25741868 PMID:28492532
IHH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1 
IHH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1PMID:28492532 PMID:35846898
IHH IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1PMID:25741868
IHH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1PMID:11455389 PMID:25741868
IHH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1PMID:11455389 PMID:18794898 PMID:19252479 PMID:28492532
IHH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1PMID:11455389 PMID:19277064
IHH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1PMID:11455389
IHH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly Farabee typePMID:12384778 PMID:12566523 PMID:14043746 PMID:15886999 PMID:17486609 PMID:19277064 PMID:25741868
IHH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1PMID:11455389 PMID:12525541
IHH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1PMID:16871364
IHH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1PMID:19277064 PMID:28492532
IHH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type A1PMID:19277064
IHH ISSIhh (Mus musculus)13592920MouseDOOMIM:112500 
Go Back to source page   Continue to Ontology report