Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Abnormal Reflexes | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperreflexia | ClinVar | PMID:25741868 more ... | Bethlem Myopathy 1A | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar | PMID:26004199 and PMID:28492532 | Charcot-Marie-Tooth disease type 2 | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar | PMID:25265257 more ... | chromosome 2q37 deletion syndrome | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:25741868 | D-2-hydroxyglutaric aciduria 1 | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 | ClinVar | PMID:16081310 more ... | Dandy-Walker syndrome | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dandy-Walker syndrome | ClinVar | PMID:25741868 and PMID:28492532 | Developmental Disease | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | epilepsy | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 | genetic disease | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | hereditary sensory and autonomic neuropathy type 2 | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2 | ClinVar | PMID:25741868 more ... | hereditary sensory and autonomic neuropathy type 2A | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuropathy more ... | ClinVar | PMID:21820098 more ... | hereditary sensory neuropathy | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEUROPATHY more ... | ClinVar | PMID:21820098 more ... | hereditary sensory neuropathy type 2C | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | hereditary spastic paraplegia | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21376300 more ... | hereditary spastic paraplegia | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | hereditary spastic paraplegia | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21376300 more ... | hereditary spastic paraplegia 30 | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16081310 more ... | intellectual disability | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | NESCAV syndrome | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | paraplegia | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:17576681 more ... | PEHO syndrome | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PEHO syndrome | ClinVar | PMID:21376300 more ... | primary hyperoxaluria type 1 | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary hyperoxaluria and type I | ClinVar | PMID:22821680 | spastic ataxia | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic ataxia | ClinVar | PMID:25741868 and PMID:28492532 | syndromic intellectual disability | | ISO | KIF1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic intellectual disability | ClinVar | PMID:25265257 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| You must be logged in to use this feature |
| {{ loginError }} |
|
|
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 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 |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
|
||||||||||
Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function