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GENE - TERM ANNOTATION REPORT

RGD ID: 734186
Species: Mus musculus
RGD Object: Gene
Symbol: Nrxn1
Name: neurexin I
Acc ID: DOID:0111332
Term: Pitt-Hopkins-like syndrome 2
Definition: A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19896112 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22617343 "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)
Nrxn1 ISONRXN1 (Homo sapiens)7240710OMIM  
Nrxn1 ISONRXN1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Nrxn1 ISONRXN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NRXN1-related condition | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2PMID:16199547 PMID:17034946 PMID:17576681 PMID:18179900 PMID:18414213 PMID:18490107 PMID:19896112 PMID:20347009 PMID:20468056 PMID:20848651 PMID:21288692 PMID:21424692 PMID:21681106 PMID:21827697 PMID:21964664 PMID:22405623 PMID:22504536 PMID:22617343 PMID:23207424 PMID:23472757 PMID:23495017 PMID:23533028 PMID:23849776 PMID:24832020 PMID:25149956 PMID:25326635 PMID:25408897 PMID:25418537 PMID:25533962 PMID:25614873 PMID:25640679 PMID:25661985 PMID:25741868 PMID:26185613 PMID:26325558 PMID:26350204 PMID:26467025 PMID:26742492 PMID:27195815 PMID:28289584 PMID:28492532 PMID:29221905 PMID:29924869 PMID:30031152 PMID:30564305 PMID:30709877 PMID:31130284 PMID:32942984 PMID:33004838 PMID:33739554 PMID:36703223 PMID:9536098
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