Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Abnormal Reflexes | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hyperreflexia | ClinVar | PMID:25741868, PMID:31488895 | Dandy-Walker syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Dandy-Walker syndrome | ClinVar | PMID:25741868 | epilepsy | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | PMID:25741868 | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25265257 more ... | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25265257 more ... | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868, PMID:28492532 | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28332297, PMID:28492532 | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25265257, PMID:25975756 | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25209998 | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25209998, PMID:29589274 | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:26354034 | genetic disease | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | hereditary sensory and autonomic neuropathy type 2 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II | ClinVar | | hereditary sensory and autonomic neuropathy type 2 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II | ClinVar | PMID:25741868, PMID:28492532 | hereditary sensory and autonomic neuropathy type 2A | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar | PMID:21820098 more ... | hereditary sensory and autonomic neuropathy type 2A | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar | PMID:25265257 more ... | hereditary sensory and autonomic neuropathy type 2A | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar | PMID:25741868 | hereditary sensory and autonomic neuropathy type 2A | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar | PMID:25741868 more ... | hereditary sensory and autonomic neuropathy type 2A | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar | PMID:25741868 more ... | hereditary sensory and autonomic neuropathy type 2A | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar | PMID:21820098 | hereditary sensory and autonomic neuropathy type 2A | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: NEUROPATHY more ... | ClinVar | PMID:25741868 more ... | hereditary sensory and autonomic neuropathy type 2A | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar | PMID:25741868, PMID:28492532 | hereditary sensory neuropathy | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: NEUROPATHY more ... | ClinVar | PMID:25741868, PMID:28492532 | hereditary sensory neuropathy | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: NEUROPATHY more ... | ClinVar | PMID:25741868 more ... | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:25741868 | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:25741868 more ... | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:17576681 more ... | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:21820098 more ... | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:28492532 | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:25741868 more ... | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:25741868, PMID:28492532 | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:25741868 more ... | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:25741868 more ... | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:18414213 more ... | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:26467025, PMID:28492532 | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar | PMID:21376300 more ... | hereditary sensory neuropathy type 2C | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by OMIM:614213 | ClinVar | PMID:21820098 | hereditary spastic paraplegia | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive | ClinVar | | hereditary spastic paraplegia | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:25585697 more ... | hereditary spastic paraplegia | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive | ClinVar | PMID:25741868, PMID:28492532 | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:21376300 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25133958 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25265257 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:28492532 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25140959, PMID:28492532 | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:17576681 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:17576681 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:21820098 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25585697 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868, PMID:26410750 | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868, PMID:31488895 | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:21487076 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:16434418 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25265257 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:21376300 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25265257 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:28332297, PMID:28492532 | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:26125038, PMID:28492532 | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:24088041 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:21820098, PMID:28492532 | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25265257 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:18414213 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25265257 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:26467025, PMID:28492532 | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868 more ... | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:25741868, PMID:28492532 | hereditary spastic paraplegia 30 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar | PMID:28492532 | intellectual disability | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar | PMID:25741868, PMID:28492532 | intellectual disability | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar | PMID:25741868 more ... | intellectual disability | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar | PMID:25741868 | intellectual disability | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar | | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25133958 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25265257 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:17576681 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868, PMID:27034427 | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868, PMID:26354034 | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868, PMID:32096284 | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868, PMID:26467025 | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25265257 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar | PMID:28492532 | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar | PMID:21376300 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar | PMID:25265257 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar | PMID:25741868, PMID:28492532 | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25741868, PMID:32860008 | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar | PMID:25265257 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar | PMID:25265257, PMID:25741868 | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT | ClinVar | PMID:18414213 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT | ClinVar | PMID:21376300 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT | ClinVar | PMID:26467025, PMID:28492532 | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar | PMID:25265257 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar | PMID:25741868 | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by OMIM:614255 | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by OMIM:614255 | ClinVar | | paraplegia | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:25741868 | paraplegia | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:25741868 more ... | paraplegia | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:25265257 more ... | paraplegia | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:24088041 more ... | PEHO syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: PEHO syndrome | ClinVar | PMID:25741868 more ... | PEHO syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: PEHO syndrome | ClinVar | PMID:21376300 more ... | PEHO syndrome | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: PEHO syndrome | ClinVar | PMID:25741868 more ... | primary hyperoxaluria type 1 | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Primary hyperoxaluria, type I | ClinVar | PMID:22821680 | spastic ataxia | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Spastic ataxia | ClinVar | PMID:25741868 | syringomyelia | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: MORVAN DISEASE | ClinVar | PMID:25741868 more ... | syringomyelia | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: MORVAN DISEASE | ClinVar | PMID:25741868, PMID:28492532 | visual epilepsy | | ISO | RGD:1312759 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | PMID:25741868 | |
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 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
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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
Click to see Annotation Detail View
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Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
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Cellular Component
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Molecular Function
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References
References - curated
| 1. | Baptista FI, etal., PLoS One. 2013 Jun 12;8(6):e65515. doi: 10.1371/journal.pone.0065515. Print 2013. |
| 2. | Bharat V, etal., Cell Rep. 2017 Nov 21;21(8):2118-2133. doi: 10.1016/j.celrep.2017.10.084. |
| 3. | Chung CY, etal., J Neurosci. 2009 Mar 18;29(11):3365-73. doi: 10.1523/JNEUROSCI.5427-08.2009. |
| 4. | Erlich Y, etal., Genome Res. 2011 May;21(5):658-64. doi: 10.1101/gr.117143.110. Epub 2011 Apr 12. |
| 5. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 6. | Gumy LF, etal., Neuron. 2017 Apr 19;94(2):347-362.e7. doi: 10.1016/j.neuron.2017.03.046. |
| 7. | Hammond JW, etal., PLoS Biol. 2009 Mar 31;7(3):e72. doi: 10.1371/journal.pbio.1000072. |
| 8. | Iqbal Z, etal., PLoS One. 2017 Mar 31;12(3):e0174667. doi: 10.1371/journal.pone.0174667. eCollection 2017. |
| 9. | Klebe S, etal., Eur J Hum Genet. 2012 Jun;20(6):645-9. doi: 10.1038/ejhg.2011.261. Epub 2012 Jan 18. |
| 10. | Kramer T, etal., Cell Host Microbe. 2012 Dec 13;12(6):806-14. doi: 10.1016/j.chom.2012.10.013. |
| 11. | Lee JR, etal., Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27. |
| 12. | Matheis N, etal., J Clin Endocrinol Metab. 2015 Dec;100(12):E1523-30. doi: 10.1210/jc.2015-2976. Epub 2015 Oct 9. |
| 13. | OMIM Disease Annotation Pipeline |
| 14. | RGD automated data pipeline |
| 15. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 16. | RGD automated import pipeline for gene-chemical interactions |
| 17. | Rivière JB, etal., Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4. |
| 18. | Shin H, etal., J Biol Chem. 2003 Mar 28;278(13):11393-401. Epub 2003 Jan 8. |
| 19. | Stucchi R, etal., Cell Rep. 2018 Jul 17;24(3):685-700. doi: 10.1016/j.celrep.2018.06.071. |
| 20. | Tsai JW, etal., Nat Neurosci. 2010 Dec;13(12):1463-71. doi: 10.1038/nn.2665. Epub 2010 Oct 31. |
Additional References at PubMed
| PMID:12435738 | PMID:15014437 | PMID:17360631 | PMID:21256924 | PMID:22863567 | PMID:23527020 | PMID:23804637 | PMID:26758546 | PMID:29698729 | PMID:30612907 | PMID:33082143 | PMID:33496723 |
Genomics
