Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease | | IAGP | RGD:14700028 | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar | PMID:20978020, PMID:28492532 | Charcot-Marie-Tooth disease | | IAGP | RGD:14700029 | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar | PMID:20978020 | Charcot-Marie-Tooth disease | | IAGP | RGD:14699925 | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar | PMID:22302274 | Congenital Pain Insensitivity | | IAGP | RGD:14724560 | 8554872 | ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CONGENITAL | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151710830 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151836437 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151779531 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151729768 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:28893857 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151786181 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151875229 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151762497 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151743358 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151774002 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151871339 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532, PMID:30296891 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151749667 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151792630 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151712899 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151890778 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151830722 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151887277 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151746348 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151847024 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151837261 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11523986 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:25741868, PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:126747797 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:126737597 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:126738450 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:25741868, PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151349713 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14726282 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:25741868, PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:126763976 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:38469705 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:152176121 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:152030172 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:152148719 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:152143652 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:152085012 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:152146866 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:28888371 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:152047882 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:152110077 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13470820 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:21358750 more ... | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:28888642 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14714699 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14721747 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14738270 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14716719 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14736331 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14736427 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14715774 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14714747 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14710336 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14734345 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14724560 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11523220 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:25741868, PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11577699 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13806002 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13813918 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13804115 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13809413 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:38478383 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13613733 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13613723 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13613722 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13613728 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13613725 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:127259579 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:38490573 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13613732 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13613730 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:38488514 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11581148 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:38499451 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:38485726 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13501794 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13496397 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13472135 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11523971 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13491220 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151892002 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11659058 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:15199506 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13476391 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:26907641 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:26904146 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11581754 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11580106 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13488638 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11651729 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:127334983 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:26910457 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:26907029 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:26885362 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11582156 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:12839568 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11581223 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:26899320 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13504626 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:127323200 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13486692 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11577860 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:15198485 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:127245530 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13613735 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:26890280 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151713229 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:15133865 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13485236 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13476095 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13613727 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:15127064 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:15174491 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:12842327 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:26913856 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151811429 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:13496413 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:11580201 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:15172779 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14700028 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:20978020, PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:38486718 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:15135167 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:15110568 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:127316650 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:127272414 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:151865710 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:14393769 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:126919130 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 5 | | IAGP | RGD:8564020 | 8554872 | ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar | PMID:14976160, PMID:20978020 | |
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Epicatechin blocks pro-nerve growth factor (proNGF)-mediated retinal neurodegeneration via inhibition of p75 neurotrophin receptor expression in a rat model of diabetes . | Al-Gayyar MM, etal., Diabetologia. 2011 Mar;54(3):669-80. Epub 2010 Dec 7. |
| 2. | Nerve growth factor and its monocyte receptors are affected in kidney disease. | Antonucci MT, etal., Nephron Clin Pract. 2009;111(1):c21-8. doi: 10.1159/000178819. Epub 2008 Dec 9. |
| 3. | Evaluation of the brain-derived neurotrophic factor, nerve growth factor and memory in adult rats survivors of the neonatal meningitis by Streptococcus agalactiae. | Barichello T, etal., Brain Res Bull. 2013 Mar;92:56-9. doi: 10.1016/j.brainresbull.2012.05.014. Epub 2012 Jun 7. |
| 4. | Intravesical Escherichia coli lipopolysaccharide stimulates an increase in bladder nerve growth factor. | Bjorling DE, etal., BJU Int. 2001 May;87(7):697-702. |
| 5. | Functional characterization of a chronic cyclophosphamide-induced overactive bladder model in mice. | Boudes M, etal., Neurourol Urodyn. 2011 Nov;30(8):1659-65. doi: 10.1002/nau.21180. Epub 2011 Jun 29. |
| 6. | NGF, BDNF, leptin, and mast cells in human coronary atherosclerosis and metabolic syndrome. | Chaldakov GN, etal., Arch Physiol Biochem. 2001 Oct;109(4):357-60. |
| 7. | Nerve growth factor levels and mast cell distribution in human coronary atherosclerosis. | Chaldakov GN, etal., Atherosclerosis. 2001 Nov;159(1):57-66. |
| 8. | Combination therapy with intranasal NGF and electroacupuncture enhanced cell proliferation and survival in rats after stroke. | Cheng S, etal., Neurol Res. 2008 Dec 5. |
| 9. | Effect of angiotensin II receptor antagonist telmisartan on detrusor overactivity in rats with bladder outlet obstruction. | Cho ST, etal., Urology. 2012 Nov;80(5):1163.e1-7. doi: 10.1016/j.urology.2012.05.002. Epub 2012 Jul 13. |
| 10. | Endogenous nerve growth factor regulates collagen expression and bladder hypertrophy through Akt and MAPK pathways during cystitis. | Chung CW, etal., J Biol Chem. 2010 Feb 5;285(6):4206-12. doi: 10.1074/jbc.M109.040444. Epub 2009 Dec 7. |
| 11. | Increased neurotrophin production in a Penicillium chrysogenum-induced allergic asthma model in mice. | Chung YJ, etal., J Toxicol Environ Health A. 2007 Jun;70(12):1020-6. |
| 12. | Stretch-activated signaling of nerve growth factor secretion in bladder and vascular smooth muscle cells from hypertensive and hyperactive rats. | Clemow DB, etal., J Cell Physiol. 2000 Jun;183(3):289-300. |
| 13. | Mucosal expression of nerve growth factor and brain-derived neurotrophic factor in chronic rhinosinusitis. | Coffey CS, etal., Am J Rhinol Allergy. 2009 Nov-Dec;23(6):571-4. |
| 14. | Neurotrophins and neurotrophin receptors in pulmonary sarcoidosis - granulomas as a source of expression. | Dagnell C, etal., Respir Res. 2010 Nov 8;11:156. |
| 15. | mRNA for NGF and p75 in the central nervous system of rats affected by experimental allergic encephalomyelitis. | De Simone R, etal., Neuropathol Appl Neurobiol. 1996 Feb;22(1):54-9. |
| 16. | Role of nerve growth factor in allergic and inflammatory lung diseases. | El-Banna SM, etal., J Microbiol Immunol Infect. 2006 Dec;39(6):444-51. |
| 17. | Melatonin treatment protects against spinal cord injury induced functional and biochemical changes in rat urinary bladder. | Ersahin M, etal., J Pineal Res. 2012 Apr;52(3):340-8. doi: 10.1111/j.1600-079X.2011.00948.x. Epub 2012 Jan 6. |
| 18. | Brain-derived neurotrophic factor increases in the uninjured dorsal root ganglion neurons in selective spinal nerve ligation model. | Fukuoka T, etal., J Neurosci. 2001 Jul 1;21(13):4891-900. |
| 19. | Brain and serum levels of nerve growth factor in a rat model of Alzheimer's disease. | Gelfo F, etal., J Alzheimers Dis. 2011 Jan 1;25(2):213-7. |
| 20. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 21. | Neurotrophins and tonsillar hypertrophy in children with obstructive sleep apnea. | Goldbart AD, etal., Pediatr Res. 2007 Oct;62(4):489-94. |
| 22. | Immunohistochemical localization of nerve growth factor in fractured and unfractured rat bone. | Grills BL and Schuijers JA, Acta Orthop Scand. 1998 Aug;69(4):415-9. |
| 23. | Blockade of NGF and trk receptors inhibits increased peripheral mechanical sensitivity accompanying cystitis in rats. | Guerios SD, etal., Am J Physiol Regul Integr Comp Physiol. 2008 Jul;295(1):R111-22. doi: 10.1152/ajpregu.00728.2007. Epub 2008 Apr 30. |
| 24. | Nerve growth factor mediates peripheral mechanical hypersensitivity that accompanies experimental cystitis in mice. | Guerios SD, etal., Neurosci Lett. 2006 Jan 16;392(3):193-7. Epub 2005 Oct 3. |
| 25. | Attenuation of mechanical hyperalgesia following spinal cord injury by administration of antibodies to nerve growth factor in the rat. | Gwak YS, etal., Neurosci Lett. 2003 Jan 16;336(2):117-20. |
| 26. | Linkage and association study of neurotrophins and their receptors as novel susceptibility genes for childhood IgA nephropathy. | Hahn WH, etal., Pediatr Res. 2011 Apr;69(4):299-305. doi: 10.1203/PDR.0b013e31820b9365. |
| 27. | Effect of hyaluronic acid on urine nerve growth factor in cyclophosphamide-induced cystitis. | Ho DR, etal., Int J Urol. 2011 Jul;18(7):525-31. doi: 10.1111/j.1442-2042.2011.02779.x. Epub 2011 May 23. |
| 28. | A study of the cough reflex in idiopathic pulmonary fibrosis. | Hope-Gill BD, etal., Am J Respir Crit Care Med. 2003 Oct 15;168(8):995-1002. Epub 2003 Aug 13. |
| 29. | Neuronal loss and expression of neurotrophic factors in a model of rat chronic compressive spinal cord injury. | Kasahara K, etal., Spine (Phila Pa 1976). 2006 Aug 15;31(18):2059-66. |
| 30. | Urinary nerve growth factor level in children with neurogenic bladder due to myelomeningocele. | Korzeniecka-Kozerska A, etal., Scand J Urol. 2013 Jan 10. |
| 31. | Neuronal modulation of lung injury induced by polymeric hexamethylene diisocyanate in mice. | Lee CT, etal., Toxicol Appl Pharmacol. 2007 Oct 1;224(1):19-28. Epub 2007 Jun 27. |
| 32. | Serum nerve grow factor and brain-derived neurotrophic factor profiles in Sjogren's syndrome concomitant with interstitial lung disease. | Li YJ, etal., Clin Rheumatol. 2014 Apr 2. |
| 33. | Serum neurotrophin profile in systemic sclerosis. | Lise MC, etal., PLoS One. 2010 Nov 9;5(11):e13918. |
| 34. | Increased urine and serum nerve growth factor levels in interstitial cystitis suggest chronic inflammation is involved in the pathogenesis of disease. | Liu HT and Kuo HC, PLoS One. 2012;7(9):e44687. doi: 10.1371/journal.pone.0044687. Epub 2012 Sep 17. |
| 35. | Intravesical botulinum toxin A injections plus hydrodistension can reduce nerve growth factor production and control bladder pain in interstitial cystitis. | Liu HT and Kuo HC, Urology. 2007 Sep;70(3):463-8. |
| 36. | Increased serum nerve growth factor levels in patients with overactive bladder syndrome refractory to antimuscarinic therapy. | Liu HT, etal., Neurourol Urodyn. 2011 Nov;30(8):1525-9. doi: 10.1002/nau.21118. Epub 2011 Aug 8. |
| 37. | RDP58 inhibits T cell-mediated bladder inflammation in an autoimmune cystitis model. | Liu W, etal., J Autoimmun. 2008 Jun;30(4):257-65. Epub 2007 Dec 26. |
| 38. | Impaired glucose tolerance and insulinopenia in the GK-rat causes peripheral neuropathy. | Murakawa Y, etal., Diabetes Metab Res Rev. 2002 Nov-Dec;18(6):473-83. |
| 39. | Nerve growth factor in the developing and adult lacrimal glands of rat with and without inherited retinitis pigmentosa. | Muzi S, etal., Cornea. 2010 Oct;29(10):1163-8. |
| 40. | The influence of inhalative corticosteroids on circulating Nerve Growth Factor, Brain-Derived Neurotrophic Factor and Neurotrophin-3 in allergic asthmatics. | Noga O, etal., Clin Exp Allergy. 2001 Dec;31(12):1906-12. |
| 41. | The production, storage and release of the neurotrophins nerve growth factor, brain-derived neurotrophic factor and neurotrophin-3 by human peripheral eosinophils in allergics and non-allergics. | Noga O, etal., Clin Exp Allergy. 2003 May;33(5):649-54. |
| 42. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 43. | Inhibiting nerve growth factor or its receptors downregulates calcitonin gene-related peptide expression in rat lumbar dorsal root ganglia innervating injured intervertebral discs. | Orita S, etal., J Orthop Res. 2010 Dec;28(12):1614-20. |
| 44. | Serum and tear levels of nerve growth factor in diabetic retinopathy patients. | Park KS, etal., Am J Ophthalmol. 2008 Mar;145(3):432-7. doi: 10.1016/j.ajo.2007.11.011. |
| 45. | Trigonal injection of botulinum toxin A in patients with refractory bladder pain syndrome/interstitial cystitis. | Pinto R, etal., Eur Urol. 2010 Sep;58(3):360-5. doi: 10.1016/j.eururo.2010.02.031. Epub 2010 Mar 6. |
| 46. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 47. | Differential effects of short- and long-term hyperhomocysteinaemia on cholinergic neurons, spatial memory and microbleedings in vivo in rats. | Pirchl M, etal., Eur J Neurosci. 2010 Nov;32(9):1516-27. |
| 48. | Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica | Qu L, etal., Zhongguo Zhong Yao Za Zhi. 2008 Nov;33(21):2539-44. |
| 49. | Circulating levels of brain-derived neurotrophic factor correlate with disease severity in the intrinsic type of atopic dermatitis. | Raap U, etal., Allergy. 2006 Dec;61(12):1416-8. |
| 50. | Differential up-regulation of neurotrophin receptors and functional activity of neurotrophins on peripheral blood eosinophils of patients with allergic rhinitis, atopic dermatitis and nonatopic subjects. | Raap U, etal., Clin Exp Allergy. 2008 Sep;38(9):1493-8. Epub 2008 Jul 17. |
| 51. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 52. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 53. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 54. | Neurotrophin system activation in bronchoalveolar lavage fluid immune cells in pulmonary sarcoidosis. | Ricci A, etal., Sarcoidosis Vasc Diffuse Lung Dis. 2005 Oct;22(3):186-94. |
| 55. | Transient increase in cytokines and nerve growth factor in the rat dorsal root ganglia after nerve lesion and peripheral inflammation. | Saab CY, etal., J Neuroimmunol. 2009 Feb 4. |
| 56. | Nicorandil ameliorates hypertension-related bladder dysfunction in the rat. | Saito M, etal., Neurourol Urodyn. 2012 Jun;31(5):695-701. doi: 10.1002/nau.21213. Epub 2012 Mar 30. |
| 57. | [Nerve growth factor and brain-derived neurotrophic factor: a possible etiopathogenic role in sensorineural hearing loss. Preliminary data]. | Salvinelli F, etal., Ann Ist Super Sanita. 2003;39(2):189-94. |
| 58. | Neural hyperresponsiveness and nerve growth factor in allergic rhinitis. | Sanico AM, etal., Int Arch Allergy Immunol. 1999 Feb-Apr;118(2-4):154-8. |
| 59. | Neural mobilization reverses behavioral and cellular changes that characterize neuropathic pain in rats. | Santos FM, etal., Mol Pain. 2012 Jul 29;8:57. doi: 10.1186/1744-8069-8-57. |
| 60. | Gene therapy using replication-defective herpes simplex virus vectors expressing nerve growth factor in a rat model of diabetic cystopathy. | Sasaki K, etal., Diabetes. 2004 Oct;53(10):2723-30. |
| 61. | Nerve growth factor enhances Clara cell proliferation after lung injury. | Sonar SS, etal., Eur Respir J. 2010 Jul;36(1):105-15. Epub 2010 Jan 14. |
| 62. | Increased phospholipase A2 activity and inflammatory response but decreased nerve growth factor expression in the olfactory bulbectomized rat model of depression: effects of chronic ethyl-eicosapentaenoate treatment. | Song C, etal., J Neurosci. 2009 Jan 7;29(1):14-22. |
| 63. | Glaucoma alters the expression of NGF and NGF receptors in visual cortex and geniculate nucleus of rats: effect of eye NGF application. | Sposato V, etal., Vision Res. 2009 Jan;49(1):54-63. Epub 2008 Nov 11. |
| 64. | Vascular and Neuronal Protection Induced by the Ocular Administration of Nerve Growth Factor in Diabetic-Induced Rat Encephalopathy. | Tirassa P, etal., CNS Neurosci Ther. 2013 Mar 26. doi: 10.1111/cns.12085. |
| 65. | Nerve growth factor induces systemic hyperalgesia after thoracic burn injury in the rat. | Ueda M, etal., Neurosci Lett. 2002 Aug 9;328(2):97-100. |
| 66. | Combined effects of chronic nicotine and acute virus exposure on neurotrophin expression in rat lung. | Urrego F, etal., Pediatr Pulmonol. 2009 Nov;44(11):1075-84. |
| 67. | Antagonism of macrophage migration inhibitory factor decreases cyclophosphamide cystitis in mice. | Vera PL, etal., Neurourol Urodyn. 2010 Nov;29(8):1451-7. doi: 10.1002/nau.20878. |
| 68. | Molecular and behavioral changes in nociception in a novel rat model of chronic pancreatitis for the study of pain. | Winston JH, etal., Pain. 2005 Sep;117(1-2):214-22. |
| 69. | The roles of nerve growth factor and cholecystokinin in the enhancement of morphine analgesia in a rodent model of central nervous system inflammation. | Xanthos DN, etal., Neuropharmacology. 2009 Mar;56(3):684-91. Epub 2008 Dec 11. |
| 70. | Use new PLGL-RGD-NGF nerve conduits for promoting peripheral nerve regeneration. | Yan Q, etal., Biomed Eng Online. 2012 Jul 9;11:36. doi: 10.1186/1475-925X-11-36. |
| 71. | Bladder overactivity and hyperexcitability of bladder afferent neurons after intrathecal delivery of nerve growth factor in rats. | Yoshimura N, etal., J Neurosci. 2006 Oct 18;26(42):10847-55. |
| 72. | Effects of postnatal thyroid hormone deficiency on neurogenesis in the juvenile and adult rat. | Zhang L, etal., Neurobiol Dis. 2009 Feb 19. |
Additional References at PubMed
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Genomics
