Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive hypercholesterolemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypercholesterolemia more ... | ClinVar | PMID:11326085 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:15792869 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:18414213 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:25741868 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:28492532 | congenital myopathy 4A | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | | congenital myopathy 4A | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:25741868 | congenital myopathy 4A | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:25182138 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:11079538 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar | PMID:21131290 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar | PMID:21131290 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar | PMID:25741868 and PMID:30932294 | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:11528383 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar | PMID:15122708 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:21131290 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:12192640 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar | PMID:12192640 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:20623375 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:28492532 and PMID:31127727 | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SEPN1-Related Disorders | ClinVar | PMID:24033266 more ... | congenital myopathy 4A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar | PMID:24033266 more ... | congenital structural myopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar | PMID:25741868 and PMID:28492532 | congenital structural myopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar | PMID:25741868 and PMID:30932294 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | Joint Instability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joint laxity | ClinVar | PMID:25741868 and PMID:28492532 | muscular dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy | ClinVar | PMID:16199547 more ... | muscular dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy | ClinVar | PMID:11079538 more ... | nemaline myopathy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cap myopathy 1 | ClinVar | PMID:25741868 and PMID:30932294 | nemaline myopathy 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cap myopathy 1 | ClinVar | PMID:25741868 | retinitis pigmentosa 59 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa 59 | ClinVar | PMID:28492532 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:17576681 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:17576681 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MYOPATHY and SEPN1-RELATED | ClinVar | PMID:16199547 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:18414213 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:25741868 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:16199547 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21131290 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21131290 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:12192640 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21131290 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:19067361 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:16199547 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:12192640 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:28492532 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:19067361 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:28492532 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:26467025 and PMID:28492532 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MYOPATHY and SEPN1-RELATED | ClinVar | PMID:25182138 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:28492532 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:11079538 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:25741868 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21670436 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21670436 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:1219264 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:25741868 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21670436 and PMID:28492532 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:25741868 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:16498447 and PMID:28492532 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:12192640 and PMID:25741868 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:28492532 and PMID:33762497 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:16199547 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21131290 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:15792869 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:17576681 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:11528383 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21131290 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21131290 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:25741868 and PMID:30932294 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21131290 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21131290 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:12192640 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:12192640 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:25635128 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:12192640 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:25640679 and PMID:28492532 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:15122708 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21520333 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21131290 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:12192640 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:21131290 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:11528383 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:35368679 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:12192640 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:20623375 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:25741868 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:16199547 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:12192640 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:28492532 and PMID:31127727 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:25741868 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:24033266 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:15792869 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:24033266 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:12192640 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:11528383 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:25741868 and PMID:32860008 | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:11528383 more ... | rigid spine muscular dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar | PMID:12192640 more ... | |