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GENE - TERM ANNOTATION REPORT

RGD ID: 11681032
Species: Pan paniscus
RGD Object: Gene
Symbol: SHH
Name: sonic hedgehog signaling molecule
Acc ID: DOID:0110875
Term: holoprosencephaly 3
Definition: A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8896572 "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)
SHH ISOSHH (Homo sapiens)7240710OMIM  
SHH ISOSHH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Holoprosencephaly 3PMID:10479723 PMID:10556296 PMID:10631160 PMID:10749657 PMID:11471164 PMID:11479728 PMID:11857543 PMID:11919111 PMID:12503095 PMID:12567406 PMID:12709790 PMID:15107988 PMID:15292211 PMID:15942944 PMID:15942952 PMID:16199547 PMID:16254195 PMID:16282375 PMID:18655123 PMID:19057928 PMID:19478089 PMID:19533790 PMID:19561609 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:21940735 PMID:21976454 PMID:22354285 PMID:22683912 PMID:22791840 PMID:22859937 PMID:22897141 PMID:23370340 PMID:23476075 PMID:24033266 PMID:24095820 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28284480 PMID:28492532 PMID:28518168 PMID:28588853 PMID:29205322 PMID:29983323 PMID:29992659 PMID:31334757 PMID:32022405 PMID:32461654 PMID:32677110 PMID:32939873 PMID:8896572 PMID:9302262 PMID:9600232
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