Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant nonsyndromic deafness 34 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: DEAFNESS more ... | ClinVar | PMID:28492532, PMID:28847925 | autosomal dominant nonsyndromic deafness 34 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: DEAFNESS more ... | ClinVar | PMID:11687797 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME | ClinVar | | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar | PMID:22193915 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar | PMID:14630794 | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Prieur Griscelli syndrome | ClinVar | PMID:24033266 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar | PMID:17509468 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar | PMID:11687797 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar | PMID:24033266 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Prieur Griscelli syndrome | ClinVar | PMID:24033266, PMID:28421071 | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar | PMID:12522564 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar | PMID:12522564 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar | PMID:24033266 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar | PMID:25741868 | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar | PMID:12522564 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Prieur Griscelli syndrome | ClinVar | PMID:11992256 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Prieur Griscelli syndrome | ClinVar | PMID:24033266 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar | PMID:21109514 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME | ClinVar | PMID:12522564 more ... | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar | PMID:12032915 | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME | ClinVar | PMID:24033266, PMID:25741868 | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME | ClinVar | PMID:28492532 | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME | ClinVar | PMID:16255047 | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME | ClinVar | PMID:24033266, PMID:28492532 | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME | ClinVar | PMID:25741868, PMID:28492532 | CINCA syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar | PMID:25741868 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:22193915 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:24033266 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:24033266, PMID:25741868 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:12522564 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:11992256 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:24033266, PMID:28421071 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:24431285 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:11687797 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:16920754 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:16081838, PMID:28492532 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:12522564 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:21058222 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:11687797 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:17509468 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:12522564 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:11992256 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:21109514 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:18063752 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:24033266 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:28492532, PMID:28847925 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:11687797 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:17513575, PMID:28492532 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:12522564 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:15334500 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:26467025, PMID:28492532 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:25979514, PMID:28492532 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:16920754 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:24033266 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:24326009 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:15593220, PMID:28492532 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome | ClinVar | PMID:25741868, PMID:28492532 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:24135410, PMID:28492532 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:11992256 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:11687797, PMID:447320 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:15724022 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:28492532, PMID:29611406 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:25732894 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:25741868 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:22279087, PMID:28492532 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:16802372 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by OMIM:607115 | ClinVar | PMID:16255047 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:24033266 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:12032915 more ... | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:25866490, PMID:28492532 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:24033266, PMID:28492532 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:12355493 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:11992256 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:15334500 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:14630794 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | PMID:16920754 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold urticaria | ClinVar | | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by OMIM:607115 | ClinVar | PMID:12032915 | Cryopyrin-Associated Periodic Syndromes | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar | PMID:28492532 | familial cold autoinflammatory syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome | ClinVar | | familial cold autoinflammatory syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome | ClinVar | PMID:11687797 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar | PMID:24033266 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar | PMID:24033266 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar | PMID:22193915 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar | PMID:24033266 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar | PMID:17509468 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar | PMID:24033266, PMID:25741868 | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar | PMID:24033266, PMID:28492532 | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar | PMID:12522564 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar | PMID:24033266, PMID:28421071 | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar | PMID:11992256 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar | PMID:12522564 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar | PMID:11992256 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar | PMID:11687797 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar | PMID:24033266 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar | PMID:21109514 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar | PMID:12522564 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar | PMID:28492532 | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar | PMID:11992256 more ... | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by OMIM:120100 | ClinVar | PMID:16255047 | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by OMIM:120100 | ClinVar | | familial cold autoinflammatory syndrome 1 | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by OMIM:120100 | ClinVar | PMID:11992256 | Fever | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Fever | ClinVar | | genetic disease | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Keratitis Fugax Hereditaria | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: Keratitis fugax hereditaria | ClinVar | PMID:25741868 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by OMIM:191900 | ClinVar | PMID:11992256 | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:22193915 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:24033266 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: UDA syndrome | ClinVar | PMID:24033266 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:17509468 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:12522564 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:24033266 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:11992256 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: UDA syndrome | ClinVar | PMID:24033266, PMID:28421071 | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:12522564 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: UDA syndrome | ClinVar | PMID:11687797 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: UDA syndrome | ClinVar | PMID:11992256 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: UDA syndrome | ClinVar | PMID:24033266 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:21109514 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:24033266, PMID:28492532 | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:12522564 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:28492532 | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:24033266, PMID:25741868 | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: UDA syndrome | ClinVar | PMID:11992256 more ... | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar | PMID:16255047 | Muckle-Wells syndrome | | ISO | RGD:1318014 | 8554872 | ClinVar Annotator: match by OMIM:191900 | ClinVar | | |
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Imported Disease Annotations - CTD
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References
References - curated
| 1. | Chang YS, etal., Int J Mol Sci. 2020 Apr 30;21(9). pii: ijms21093179. doi: 10.3390/ijms21093179. |
| 2. | Dinarello CA Annu Rev Immunol. 2009;27:519-50. |
| 3. | Hoffman HM, etal., Nat Genet. 2001 Nov;29(3):301-5. |
| 4. | MGD data from the GO Consortium |
| 5. | OMIM Disease Annotation Pipeline |
| 6. | Pipeline to import KEGG annotations from KEGG into RGD |
| 7. | RGD automated import pipeline |
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| PMID:31586037 | PMID:31596526 | PMID:31597697 | PMID:31625260 | PMID:31632284 | PMID:31647995 | PMID:31694740 | PMID:31700106 | PMID:31703838 | PMID:31719149 | PMID:31735593 | PMID:31740004 |
| PMID:31748742 | PMID:31787240 | PMID:31787755 | PMID:31796125 | PMID:31817997 | PMID:31843468 | PMID:31846625 | PMID:31857693 | PMID:31860763 | PMID:31865729 | PMID:31866999 | PMID:31869420 |
| PMID:31895698 | PMID:31912235 | PMID:31914698 | PMID:31935195 | PMID:31953217 | PMID:31989218 | PMID:31996485 | PMID:31999304 | PMID:31999974 | PMID:32041990 | PMID:32070376 | PMID:32087352 |
| PMID:32088213 | PMID:32107769 | PMID:32108663 | PMID:32187211 | PMID:32193329 | PMID:32199914 | PMID:32205422 | PMID:32210476 | PMID:32226647 | PMID:32234476 | PMID:32244067 | PMID:32244997 |
| PMID:32246016 | PMID:32273022 | PMID:32290861 | PMID:32298652 | PMID:32321638 | PMID:32350570 | PMID:32353421 | PMID:32367047 | PMID:32385413 | PMID:32417375 | PMID:32454054 | PMID:32499379 |
| PMID:32707273 | PMID:32758727 | PMID:32760056 | PMID:32763970 | PMID:32791101 | PMID:32943500 | PMID:32971400 | PMID:32976511 | PMID:33002446 | PMID:33135636 | PMID:33247121 | PMID:33254688 |
Genomics
