Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RENBP | Pig | adrenoleukodystrophy | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:10480214 more ... | RENBP | Pig | autistic disorder | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | RENBP | Pig | autosomal hemophilia A | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar | PMID:31690835 | RENBP | Pig | Barth syndrome | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar | PMID:10480214 more ... | RENBP | Pig | cerebral creatine deficiency syndrome 1 | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar | PMID:10480214 more ... | RENBP | Pig | Chromosome Xq28 Duplication Syndrome | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome | ClinVar | | RENBP | Pig | dyskeratosis congenita | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:10480214 more ... | RENBP | Pig | Emery-Dreifuss muscular dystrophy | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy | ClinVar | PMID:10480214 more ... | RENBP | Pig | factor VIII deficiency | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Factor 8 deficiency and congenital | ClinVar | PMID:31690835 | RENBP | Pig | favism | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia more ... | ClinVar | PMID:10480214 more ... | RENBP | Pig | frontometaphyseal dysplasia | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia | ClinVar | PMID:15689435 more ... | RENBP | Pig | immunodeficiency 33 | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar | PMID:25741868 | RENBP | Pig | Juberg Hayward Syndrome | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar | PMID:15689435 more ... | RENBP | Pig | Melnick-Needles syndrome | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles | ClinVar | PMID:15689435 more ... | RENBP | Pig | methylmalonic acidemia and homocysteinemia cblX type | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER and X-LINKED 3 | ClinVar | PMID:15689435 more ... | RENBP | Pig | otopalatodigital syndrome type 2 | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Otopalatodigital Syndrome and Type II | ClinVar | PMID:15689435 more ... | RENBP | Pig | paraplegia | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:10480214 more ... | RENBP | Pig | periventricular nodular heterotopia | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | RENBP | Pig | Periventricular Nodular Heterotopia 4 | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 | ClinVar | PMID:15689435 more ... | RENBP | Pig | severe congenital encephalopathy due to MECP2 mutation | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly | ClinVar | PMID:12180070 more ... | RENBP | Pig | Splenomegaly | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Splenomegaly | ClinVar | PMID:25741868 | RENBP | Pig | syndromic X-linked intellectual disability Lubs type | | ISO | RENBP (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:22679399 more ... | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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