Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Acute Lymphoblastic Leukemia, with Lymphomatous Features | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphoblastic leukemia more ... | ClinVar | PMID:10988075 more ... | autosomal recessive limb-girdle muscular dystrophy type 2K | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K | ClinVar | PMID:28492532 | chronic myelogenous leukemia, BCR-ABL1 positive | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic myelogenous leukemia and BCR-ABL1 positive | ClinVar | PMID:10988075 more ... | chronic myeloid leukemia | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10988075 more ... | citrullinemia | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Citrullinemia | ClinVar | PMID:28492532 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | congenital heart disease | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital heart disease | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24728327 and PMID:28492532 | head and neck squamous cell carcinoma | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar | PMID:11569495 more ... | microcephaly | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 and PMID:33223528 | Neurodevelopmental Disorders | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | | primary coenzyme Q10 deficiency 7 | | ISO | ABL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | |