Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenoleukodystrophy | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:10480214 more ... | Aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aneurysm | ClinVar | PMID:25741868 | aortic aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic dilatation | ClinVar | PMID:18414213 more ... | Arterial Thrombosis | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arterial thrombosis | ClinVar | PMID:25741868 | arterial tortuosity syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arterial tortuosity | ClinVar | PMID:25741868 | autistic disorder | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Barth syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar | PMID:10480214 more ... | cerebral creatine deficiency syndrome 1 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar | PMID:10480214 more ... | cleft palate | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cleft palate | ClinVar | PMID:11704759 more ... | colitis | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colitis | ClinVar | PMID:25741868 more ... | congenital heart disease | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heart and malformation of | ClinVar | PMID:25741868 | connective tissue disease | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | Developmental Disabilities | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16684786 more ... | disorder of sexual development | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Dwarfism | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:11704759 more ... | dyskeratosis congenita | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:18177777 and PMID:28492532 | Ehlers-Danlos syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome | ClinVar | PMID:25741868 | Ehlers-Danlos syndrome classic type 1 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome and classic type | ClinVar | | Emery-Dreifuss muscular dystrophy | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy | ClinVar | PMID:10480214 more ... | epilepsy | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | Familial Sudden Death | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sudden unexplained death in childhood | ClinVar | PMID:25741868 and PMID:28492532 | Familial Thoracic Aortic Aneurysm 2 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic aneurysm and familial thoracic 2 | ClinVar | PMID:25741868 and PMID:28492532 | favism | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia more ... | ClinVar | PMID:18177777 and PMID:28492532 | FG Syndrome 2 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: FG syndrome 2 | ClinVar | PMID:10982489 more ... | frontometaphyseal dysplasia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia | ClinVar | PMID:10982489 more ... | frontometaphyseal dysplasia 1 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Gastrointestinal Hemorrhage | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hematochezia | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | hemorrhagic disease | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:25741868 more ... | hepatoblastoma | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatoblastoma | ClinVar | PMID:28492532 | hereditary breast ovarian cancer syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 and PMID:28492532 | hydronephrosis | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hydronephrosis | ClinVar | PMID:28492532 | immunodeficiency 33 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar | PMID:25741868 | intellectual disability | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | Juberg Hayward Syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Juberg Hayward Syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar | PMID:10982489 more ... | Juberg Hayward Syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar | PMID:10982489 more ... | lung disease | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic lung disease | ClinVar | PMID:18414213 more ... | Marfan syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfan syndrome | ClinVar | PMID:28492532 | Melnick-Needles syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | methylmalonic acidemia and homocysteinemia cblX type | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER and X-LINKED 3 | ClinVar | PMID:15689435 more ... | microcephaly | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 and PMID:28492532 | Muscle Hypotonia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: poor muscle tone | ClinVar | PMID:25741868 | myopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopia | ClinVar | PMID:28492532 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the cerebrum | ClinVar | | Neurodevelopmental Disorders | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Nijmegen breakage syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly and normal intelligence and immunodeficiency | ClinVar | PMID:18414213 more ... | omphalocele | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Omphalocoele | ClinVar | PMID:25741868 | orofacial cleft | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Orofacial clefting | ClinVar | PMID:25741868 | otopalatodigital syndrome spectrum disorder | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder | ClinVar | PMID:15654694 and PMID:16596676 | otopalatodigital syndrome type 1 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | otopalatodigital syndrome type 2 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | paraplegia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:10480214 more ... | patent foramen ovale | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Patent foramen ovale | ClinVar | PMID:25741868 | periventricular nodular heterotopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | periventricular nodular heterotopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | periventricular nodular heterotopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | periventricular nodular heterotopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Periventricular Nodular Heterotopia 4 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | prune belly syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Prune belly syndrome | ClinVar | | scoliosis | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Scoliosis | ClinVar | PMID:25741868 and PMID:28492532 | severe congenital encephalopathy due to MECP2 mutation | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly | ClinVar | PMID:15351775 more ... | Splenomegaly | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Splenomegaly | ClinVar | PMID:25741868 | Stroke | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stroke | ClinVar | PMID:25741868 and PMID:28492532 | syndromic X-linked intellectual disability Lubs type | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:22679399 more ... | terminal osseous dysplasia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | thoracic aortic aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11704759 more ... | thoracic aortic aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11704759 more ... | thoracic aortic aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11704759 more ... | thrombocytopenia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:18414213 more ... | ventricular septal defect | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular septal defect | ClinVar | PMID:28492532 | Wolff-Parkinson-White syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar | PMID:28492532 | X-linked cardiac valvular dysplasia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | X-linked chronic idiopathic intestinal pseudo-obstruction | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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