Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MECP2 | Pig | adrenoleukodystrophy | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:10480214 more ... | MECP2 | Pig | Angelman syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | MECP2 | Pig | attention deficit hyperactivity disorder | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Attention deficit hyperactivity disorder | ClinVar | PMID:10767337 more ... | MECP2 | Pig | autism spectrum disorder | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | MECP2 | Pig | autistic disorder | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | MECP2 | Pig | autistic disorder | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | MECP2 | Pig | autistic disorder | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | MECP2 | Pig | autosomal hemophilia A | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar | PMID:31690835 | MECP2 | Pig | Barth syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar | PMID:10480214 more ... | MECP2 | Pig | cerebral creatine deficiency syndrome 1 | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar | PMID:10480214 more ... | MECP2 | Pig | Chromosome Xq28 Duplication Syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome | ClinVar | | MECP2 | Pig | developmental and epileptic encephalopathy 2 | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar | PMID:25741868 | MECP2 | Pig | Developmental Disabilities | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:10577905 more ... | MECP2 | Pig | Developmental Disease | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 and PMID:28492532 | MECP2 | Pig | dyskeratosis congenita | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:10480214 more ... | MECP2 | Pig | Emery-Dreifuss muscular dystrophy | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy | ClinVar | PMID:10480214 more ... | MECP2 | Pig | epilepsy | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10767337 more ... | MECP2 | Pig | Facial Hypertrichosis | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial hypertrichosis | ClinVar | PMID:32581362 | MECP2 | Pig | factor VIII deficiency | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Factor 8 deficiency and congenital | ClinVar | PMID:31690835 | MECP2 | Pig | favism | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia more ... | ClinVar | PMID:10480214 more ... | MECP2 | Pig | focal epilepsy | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal epilepsy | ClinVar | PMID:25741868 | MECP2 | Pig | frontometaphyseal dysplasia | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia | ClinVar | PMID:15689435 more ... | MECP2 | Pig | Generalized Epilepsy | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:25741868 | MECP2 | Pig | genetic disease | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28465761 more ... | MECP2 | Pig | genetic disease | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10508514 more ... | MECP2 | Pig | Hearing Loss | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:11007980 more ... | MECP2 | Pig | immunodeficiency 33 | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar | PMID:25741868 | MECP2 | Pig | intellectual disability | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | MECP2 | Pig | intellectual disability | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | MECP2 | Pig | intellectual disability | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | MECP2 | Pig | intellectual disability | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | MECP2 | Pig | intellectual disability | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | MECP2 | Pig | Juberg Hayward Syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar | PMID:15689435 more ... | MECP2 | Pig | Melnick-Needles syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles | ClinVar | PMID:15689435 more ... | MECP2 | Pig | methylmalonic acidemia and homocysteinemia cblX type | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER and X-LINKED 3 | ClinVar | PMID:15689435 more ... | MECP2 | Pig | microcephaly | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:11007980 more ... | MECP2 | Pig | Micrognathism | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Micrognathia | ClinVar | PMID:11007980 more ... | MECP2 | Pig | Nervous System Malformations | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:10508514 more ... | MECP2 | Pig | Neurodevelopmental Disorders | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:10767337 more ... | MECP2 | Pig | non-syndromic X-linked intellectual disability | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability | ClinVar | PMID:15351775 more ... | MECP2 | Pig | otopalatodigital syndrome type 2 | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Otopalatodigital Syndrome and Type II | ClinVar | PMID:15689435 more ... | MECP2 | Pig | paraplegia | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:10480214 more ... | MECP2 | Pig | periventricular nodular heterotopia | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | MECP2 | Pig | Periventricular Nodular Heterotopia 4 | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 | ClinVar | PMID:15689435 more ... | MECP2 | Pig | Rett syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23591336 more ... | MECP2 | Pig | Rett syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | MECP2 | Pig | Rett Syndrome, Atypical | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atypical Rett syndrome | ClinVar | PMID:10508514 more ... | MECP2 | Pig | Rett Syndrome, Zappella Variant | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rett syndrome and zappella variant | ClinVar | PMID:10508514 more ... | MECP2 | Pig | schizophrenia | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:20479760 more ... | MECP2 | Pig | severe congenital encephalopathy due to MECP2 mutation | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly | ClinVar | PMID:10232754 more ... | MECP2 | Pig | severe congenital encephalopathy due to MECP2 mutation | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly | ClinVar | PMID:23921973 more ... | MECP2 | Pig | severe congenital encephalopathy due to MECP2 mutation | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24511209 more ... | MECP2 | Pig | severe congenital encephalopathy due to MECP2 mutation | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10232754 more ... | MECP2 | Pig | Smith-Magenis syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Smith-Magenis Syndrome-like | ClinVar | PMID:10854091 more ... | MECP2 | Pig | Splenomegaly | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Splenomegaly | ClinVar | PMID:25741868 | MECP2 | Pig | stereotypic movement disorder | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stereotypic movement disorder | ClinVar | PMID:15737703 more ... | MECP2 | Pig | syndromic X-linked intellectual disability Lubs type | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | MECP2 | Pig | X-linked intellectual disability-psychosis-macroorchidism syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10232754 more ... | MECP2 | Pig | X-linked intellectual disability-psychosis-macroorchidism syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:9038338 more ... | |