Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | KIF1B | Pig | adrenal gland pheochromocytoma | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenal gland pheochromocytoma | ClinVar | PMID:25741868 | KIF1B | Pig | arthrogryposis multiplex congenita | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Guérin-Stern syndrome | ClinVar | PMID:25741868 | KIF1B | Pig | autosomal dominant adult-onset proximal spinal muscular atrophy | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spinal muscular atrophy more ... | ClinVar | PMID:25741868 and PMID:28492532 | KIF1B | Pig | breast cancer | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar | PMID:18334619 more ... | KIF1B | Pig | Charcot-Marie-Tooth disease | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar | PMID:17576681 more ... | KIF1B | Pig | Charcot-Marie-Tooth disease type 1 | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and type I | ClinVar | | KIF1B | Pig | Charcot-Marie-Tooth disease type 2 | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | KIF1B | Pig | Charcot-Marie-Tooth disease type 2 | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | KIF1B | Pig | Charcot-Marie-Tooth disease type 2 | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | KIF1B | Pig | Charcot-Marie-Tooth disease type 2 | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | KIF1B | Pig | Charcot-Marie-Tooth disease type 2A1 | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11389829 more ... | KIF1B | Pig | Charcot-Marie-Tooth disease type 4 | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar | | KIF1B | Pig | chromosome 1p36 deletion syndrome | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome | ClinVar | | KIF1B | Pig | Developmental Disabilities | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:28492532 | KIF1B | Pig | Hereditary Neoplastic Syndromes | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | KIF1B | Pig | Hereditary Neoplastic Syndromes | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | KIF1B | Pig | Hereditary Neoplastic Syndromes | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:25741868 and PMID:28492532 | KIF1B | Pig | Hereditary Neoplastic Syndromes | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | KIF1B | Pig | immunodeficiency 14 | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar | PMID:28492532 | KIF1B | Pig | intellectual disability | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | KIF1B | Pig | Joint Instability | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joint laxity | ClinVar | PMID:25741868 more ... | KIF1B | Pig | Meniere's disease | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Meniere disease | ClinVar | PMID:25741868 more ... | KIF1B | Pig | multiple endocrine neoplasia type 2A | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2A | ClinVar | PMID:24694336 more ... | KIF1B | Pig | neuroblastoma | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18334619 more ... | KIF1B | Pig | ovarian cancer | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ovarian cancer | ClinVar | PMID:25741868 | KIF1B | Pig | pheochromocytoma | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pheochromocytoma | ClinVar | PMID:24033266 more ... | KIF1B | Pig | scoliosis | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Scoliosis | ClinVar | PMID:25741868 | KIF1B | Pig | vitiligo | | ISO | KIF1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vitiligo | ClinVar | PMID:25741868 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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