![]()
Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MTHFR | Pig | autistic disorder | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:28492532 | MTHFR | Pig | Charcot-Marie-Tooth disease type 2 | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar | PMID:28492532 | MTHFR | Pig | chromosome 1p36 deletion syndrome | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome | ClinVar | | MTHFR | Pig | Cognitive Dysfunction | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mental deterioration | ClinVar | PMID:25741868 | MTHFR | Pig | Developmental Disabilities | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | MTHFR | Pig | Ehlers-Danlos syndrome kyphoscoliotic type 1 | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome and kyphoscoliotic type 1 | ClinVar | PMID:28492532 | MTHFR | Pig | epilepsy with generalized tonic-clonic seizures | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Generalized tonic-clonic seizures | ClinVar | PMID:25741868 | MTHFR | Pig | Familial Atrial Fibrillation 6 | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrial fibrillation more ... | ClinVar | PMID:28492532 | MTHFR | Pig | Folate-Sensitive Neural Tube Defects | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neural tube defects and folate-sensitive | ClinVar | PMID:10196703 more ... | MTHFR | Pig | gastrointestinal stromal tumor | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10196703 more ... | MTHFR | Pig | gastrointestinal stromal tumor | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar | PMID:10196703 more ... | MTHFR | Pig | gastrointestinal stromal tumor | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:10196703 more ... | MTHFR | Pig | gastrointestinal stromal tumor | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10196703 more ... | MTHFR | Pig | genetic disease | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25736335 more ... | MTHFR | Pig | intellectual disability | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12733064 more ... | MTHFR | Pig | Methylenetetrahydrofolate Reductase Deficiency | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10196703 more ... | MTHFR | Pig | Methylenetetrahydrofolate Reductase Deficiency | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10196703 more ... | MTHFR | Pig | Mthfr Deficiency, Thermolabile Type | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MTHFR deficiency and thermolabile type | ClinVar | PMID:10196703 more ... | MTHFR | Pig | neural tube defect | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neural tube defect | ClinVar | PMID:25736335 and PMID:25741868 | MTHFR | Pig | prostate cancer | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | MTHFR | Pig | schizophrenia | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10551815 more ... | MTHFR | Pig | thrombophilia due to thrombin defect | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10196703 more ... | MTHFR | Pig | vascular dementia | | ISO | MTHFR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vascular dementia | ClinVar | PMID:35307828 | |