Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Flna | Naked Mole-Rat | adrenoleukodystrophy | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | Aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aneurysm | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | aortic aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic dilatation | ClinVar | PMID:18414213 more ... | Flna | Naked Mole-Rat | Arterial Thrombosis | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arterial thrombosis | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | arterial tortuosity syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arterial tortuosity | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | autistic disorder | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Flna | Naked Mole-Rat | autosomal hemophilia A | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar | | Flna | Naked Mole-Rat | Barth syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | cerebral creatine deficiency syndrome 1 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | cleft palate | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cleft palate | ClinVar | PMID:11704759 more ... | Flna | Naked Mole-Rat | colitis | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colitis | ClinVar | PMID:25741868 more ... | Flna | Naked Mole-Rat | congenital heart disease | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heart and malformation of | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | connective tissue disease | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | Flna | Naked Mole-Rat | Developmental Disabilities | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16684786 more ... | Flna | Naked Mole-Rat | disorder of sexual development | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Flna | Naked Mole-Rat | Dwarfism | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:11704759 more ... | Flna | Naked Mole-Rat | dyskeratosis congenita | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | Ehlers-Danlos syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | Ehlers-Danlos syndrome classic type 1 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome and classic type | ClinVar | | Flna | Naked Mole-Rat | Emery-Dreifuss muscular dystrophy | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | epilepsy | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | Flna | Naked Mole-Rat | factor VIII deficiency | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency and congenital | ClinVar | | Flna | Naked Mole-Rat | Familial Sudden Death | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sudden unexplained death in childhood | ClinVar | PMID:25741868 and PMID:28492532 | Flna | Naked Mole-Rat | 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 | Flna | Naked Mole-Rat | favism | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia more ... | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | FG Syndrome 2 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: FG syndrome 2 | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | frontometaphyseal dysplasia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | frontometaphyseal dysplasia 1 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | Gastrointestinal Hemorrhage | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hematochezia | ClinVar | PMID:25741868 more ... | Flna | Naked Mole-Rat | genetic disease | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:26404489 and PMID:28492532 | Flna | Naked Mole-Rat | hemorrhagic disease | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:25741868 more ... | Flna | Naked Mole-Rat | hepatoblastoma | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatoblastoma | ClinVar | PMID:28492532 | Flna | Naked Mole-Rat | 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 | Flna | Naked Mole-Rat | hydronephrosis | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hydronephrosis | ClinVar | PMID:28492532 | Flna | Naked Mole-Rat | immunodeficiency 33 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | intellectual disability | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | Flna | Naked Mole-Rat | Juberg Hayward Syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | Juberg Hayward Syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | Juberg Hayward Syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | Juberg Hayward Syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | Marfan syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfan syndrome | ClinVar | PMID:28492532 | Flna | Naked Mole-Rat | Melnick-Needles syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | 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 ... | Flna | Naked Mole-Rat | microcephaly | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 and PMID:28492532 | Flna | Naked Mole-Rat | Muscle Hypotonia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: poor muscle tone | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | myopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopia | ClinVar | PMID:28492532 | Flna | Naked Mole-Rat | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the cerebrum | ClinVar | | Flna | Naked Mole-Rat | Neurodevelopmental Disorders | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | Nijmegen breakage syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly and normal intelligence and immunodeficiency | ClinVar | PMID:18414213 more ... | Flna | Naked Mole-Rat | omphalocele | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Omphalocoele | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | orofacial cleft | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Orofacial clefting | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | otopalatodigital syndrome spectrum disorder | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder | ClinVar | PMID:15654694 and PMID:16596676 | Flna | Naked Mole-Rat | otopalatodigital syndrome type 1 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | otopalatodigital syndrome type 2 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | paraplegia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | patent foramen ovale | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Patent foramen ovale | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | periventricular nodular heterotopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | periventricular nodular heterotopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | periventricular nodular heterotopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | periventricular nodular heterotopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | periventricular nodular heterotopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | periventricular nodular heterotopia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | Flna | Naked Mole-Rat | Periventricular Nodular Heterotopia 4 | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | prune belly syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Prune belly syndrome | ClinVar | | Flna | Naked Mole-Rat | scoliosis | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Scoliosis | ClinVar | PMID:25741868 and PMID:28492532 | Flna | Naked Mole-Rat | 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 ... | Flna | Naked Mole-Rat | Splenomegaly | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Splenomegaly | ClinVar | PMID:25741868 | Flna | Naked Mole-Rat | 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 ... | Flna | Naked Mole-Rat | terminal osseous dysplasia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | thoracic aortic aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | thoracic aortic aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11704759 more ... | Flna | Naked Mole-Rat | thoracic aortic aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11704759 more ... | Flna | Naked Mole-Rat | thoracic aortic aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | thoracic aortic aneurysm | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11704759 more ... | Flna | Naked Mole-Rat | thrombocytopenia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:18414213 more ... | Flna | Naked Mole-Rat | ventricular septal defect | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular septal defect | ClinVar | PMID:28492532 | Flna | Naked Mole-Rat | Wolff-Parkinson-White syndrome | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar | PMID:28492532 | Flna | Naked Mole-Rat | X-linked cardiac valvular dysplasia | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | Flna | Naked Mole-Rat | X-linked chronic idiopathic intestinal pseudo-obstruction | | ISO | FLNA (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10982489 more ... | |