Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease intermediate type | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease | ClinVar | PMID:17932099 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:26467025, PMID:28492532 | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:11840191 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:15311340 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:23113340 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:23739125 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:10215406, PMID:28492532 | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:22649220 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:16629771 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:17932099 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:16199547 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:12390967 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:11408615 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:10430417 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:21221019 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:12661046 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:111113225 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:16027167 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:10737121 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:10467912 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:25741868, PMID:28492532 | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:26467025 | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:12456816 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:11933197 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:10430417 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:12661046 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:24349310 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:10430417 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:17932099 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:21221019 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:25741868 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:11113225 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:10215406 | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:25741868 | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:17932099 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:21221019, PMID:22521272 | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:26467025 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:10051520 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:10690989 more ... | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:28492532 | congenital myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar | PMID:12390967 more ... | endomyocardial fibrosis | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Becker's disease | ClinVar | PMID:10690989 more ... | endomyocardial fibrosis | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Becker's disease | ClinVar | PMID:10430417 more ... | endomyocardial fibrosis | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Becker's disease | ClinVar | PMID:10360989 more ... | genetic disease | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23810313 | genetic disease | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | migraine | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Migraine | ClinVar | PMID:10737121 more ... | myopathy | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Myopathy | ClinVar | PMID:10430417 more ... | Myotonia | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Myotonia | ClinVar | PMID:25741868 | Myotonia | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Myotonia | ClinVar | PMID:10051520 more ... | Myotonia | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Myotonia | ClinVar | PMID:10690989 more ... | Myotonia | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Myotonia | ClinVar | PMID:18337100 more ... | myotonia congenita | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Myotonia generalized | ClinVar | PMID:10430417 more ... | myotonia congenita | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Myotonia congenita | ClinVar | PMID:10690989 more ... | myotonia congenita | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Myotonia levior | ClinVar | PMID:12456816 more ... | myotonia congenita | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Myotonia generalized | ClinVar | PMID:10360989 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:25741868 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Thomsen's disease | ClinVar | PMID:10430417 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:10467912 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:25741868, PMID:28492532 | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:23739125 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:18263754 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:10051520 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:10690989 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:25741868 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:32117034 | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:25741868, PMID:26467025 | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:12456816 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:10737121 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:25741868 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:21045501 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:18337100 | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:25741868 | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:10360989 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:12661046 more ... | Myotonia Congenita, Autosomal Dominant | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar | PMID:11933197 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10430417 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:22641783, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:25741868 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:26260254, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Myotonia generalized | ClinVar | PMID:10430417 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:23739125 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:26467025 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17576681 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10467912 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:18263754 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10051520 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:22790975 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10533075 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:26467025 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:26467025 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:22094069 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:12661046 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:18337730 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:11408615 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:12456816 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10533075 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10430417 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10690989 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:18337100 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10737121 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:11840191 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:25741868 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17576681 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:19697366 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:12390967 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:11113225 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:28492532, PMID:9736777 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:23152584, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:16629771 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:18337730, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:18337100 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:20047568 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:23933576, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:23739125, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:27614575, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:16027167 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:22094069 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:26467025 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:21045501 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:21520333 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10644771 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:12566541, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:11840191 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:22094069 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10644771 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:12390967 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:12390967 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:20398785, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:15311340 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:23113340 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:24349310 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:18337100 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:22649220, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:25741868 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:11933197 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10619717 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10690989 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:27653901, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:22649220 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:23739125 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10215406, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:23739125 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10360989 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:15311340 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:16199547 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:16199547 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:23456831, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10215406 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10644771 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:11113225 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:24349310 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:11840191 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:22094069 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:28492532, PMID:29935101 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:26096614 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17717708 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:26502825, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:22094069 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:15241802 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10051520 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:28492532, PMID:29480456 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:11933197 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:23152584 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:15311340 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:22094069, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:16199547 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10533075 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:16199547 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:12661046 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:12661046 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:15116370 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:11933197 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:21221019 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:16199547 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10644771, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:21045501 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:25741868, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:21221019 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:111113225 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:11933197 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:23113340 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:17932099 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:21221019 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:10619717, PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:18337100 more ... | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:22649220 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:7951242 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:28492532 | Myotonia Congenita, Autosomal Recessive | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar | PMID:26467025, PMID:28492532 | Smith-Lemli-Opitz syndrome | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome | ClinVar | PMID:12390967 more ... | Smith-Lemli-Opitz syndrome | | ISO | RGD:734112 | 8554872 | ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome | ClinVar | PMID:17932099 more ... | |
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Analyze GeneStrainQTL List |
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Cellular Component
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Molecular Function
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References
References - curated
Additional References at PubMed
| PMID:2453798 | PMID:7721815 | PMID:15139012 | PMID:19220292 | PMID:19786584 | PMID:22521272 | PMID:26007199 | PMID:26021757 | PMID:26502825 |
Genomics
Candidate Gene Status
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Clcn1 is a candidate Gene for QTL Bp116 |
Comparative Map Data
| Clcn1 (Rattus norvegicus - Norway rat) |
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| CLCN1 (Homo sapiens - human) |
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| Clcn1 (Mus musculus - house mouse) |
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| Clcn1 (Chinchilla lanigera - long-tailed chinchilla) |
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| CLCN1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CLCN1 (Canis lupus familiaris - dog) |
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| Clcn1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CLCN1 (Sus scrofa - pig) |
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| CLCN1 (Chlorocebus sabaeus - green monkey) |
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| Clcn1 (Heterocephalus glaber - naked mole-rat) |
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Position Markers
| RH94644 |
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QTLs in Region (mRatBN7.2)
| The following QTLs overlap with this region. | | Full Report | | CSV | | TAB | | Printer | | Gviewer |
The following Strains have been annotated to Clcn1