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GENE - TERM ANNOTATION REPORT

RGD ID: 1309452
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nipal4
Name: NIPA-like domain containing 4
Acc ID: DOID:0060715
Term: autosomal recessive congenital ichthyosis 6
Definition: An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16436457 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17557927 "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)
Nipal4 ISONIPAL4 (Homo sapiens)7240710OMIM  
Nipal4 ISONIPAL4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Nipal4 ISONIPAL4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 PMID:22098531 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29444371 PMID:29453417 PMID:31046801 PMID:31168818 PMID:31347739 PMID:31532840 PMID:33786896 PMID:34908195 PMID:35412663 PMID:35734965
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