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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:25741868|PMID:28374925|PMID:30998304 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | RGD:126746440|RGD:13504448|RGD:13520548|RGD:13520598|RGD:13520993|RGD:13528349|RGD:14396601|RGD:14978286|RGD:150430212|RGD:150468256|RGD:151717402|RGD:152033258|RGD:153348569|RGD:155266016|RGD:155645210|RGD:155712763|RGD:155797077|RGD:155800020|RGD:155800205|RGD:156320529|RGD:21069906|RGD:21070717|RGD:243052549|RGD:243060023|RGD:25321518|RGD:329846518|RGD:38461295|RGD:401722789|RGD:401940590|RGD:405257278|RGD:405704173|RGD:405867461|RGD:407429173|RGD:407429360|RGD:407429362|RGD:407429363|RGD:596928361|RGD:597871466|RGD:598223682|RGD:598224408|RGD:616938718 | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:25741868 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | RGD:127274533|RGD:151663541|RGD:151663748|RGD:152982430|RGD:152983049|RGD:401857785|RGD:405853647|RGD:405854283|RGD:597660846|RGD:598127412|RGD:616932952 | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition | ClinVar | | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:25741868|PMID:28492532|PMID:39033378 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | RGD:15145656|RGD:156442108|RGD:405198600 | 8554872 | ClinVar Annotator: match by term: HNRNPK-related condition | ClinVar | PMID:28492532 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:30793470 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:32222014 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:25741868|PMID:26173930|PMID:26220823 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:25741868|PMID:36130591 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:25741868|PMID:26173930|PMID:29904177 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:18414213|PMID:26173930|PMID:26954065 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:25741868|PMID:26173930|PMID:26954065|PMID:28492532 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:25741868|PMID:29904177 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:25741868|PMID:26173930|PMID:26220823|PMID:30998304 | HNRNPK | Human | Au-Kline Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:25741868|PMID:28771707|PMID:30998304 | HNRNPK | Human | brain disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalopathy | ClinVar | PMID:25741868|PMID:26173930|PMID:26954065|PMID:28492532 | HNRNPK | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:26173930 | HNRNPK | Human | genetic disease | | IAGP | RGD:13532753|RGD:156118520|RGD:156290808|RGD:329352450|RGD:405791275|RGD:405791279|RGD:405791285|RGD:407527886|RGD:407527889|RGD:40887311|RGD:40888032|RGD:597691724|RGD:598248862 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | HNRNPK | Human | genetic disease | | IAGP | RGD:401877427|RGD:405152844 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | HNRNPK | Human | genetic disease | | IAGP | RGD:13520993|RGD:329846518 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | HNRNPK | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868|PMID:36130591 | HNRNPK | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:36130591 | HNRNPK | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | HNRNPK | Human | Muscle Hypotonia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar | PMID:25741868 | |