Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenoleukodystrophy | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:10480214 more ... | Angelman syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | attention deficit hyperactivity disorder | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Attention deficit hyperactivity disorder | ClinVar | PMID:10767337 more ... | autism spectrum disorder | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | autistic disorder | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | autistic disorder | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | Barth syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar | PMID:10480214 more ... | cerebral creatine deficiency syndrome 1 | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar | PMID:10480214 more ... | Developmental Disabilities | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:10577905 more ... | Developmental Disease | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 and PMID:28492532 | dyskeratosis congenita | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:18177777 and PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy | ClinVar | PMID:10480214 more ... | epilepsy | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10767337 more ... | Facial Hypertrichosis | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Facial hypertrichosis | ClinVar | PMID:32581362 | favism | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia more ... | ClinVar | PMID:18177777 and PMID:28492532 | focal epilepsy | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal epilepsy | ClinVar | PMID:25741868 | frontometaphyseal dysplasia | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia | ClinVar | PMID:15689435 more ... | Generalized Epilepsy | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:25741868 | genetic disease | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10508514 more ... | genetic disease | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28250423 more ... | Hearing Loss | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:11007980 more ... | immunodeficiency 33 | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar | PMID:25741868 | intellectual disability | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | intellectual disability | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | intellectual disability | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | intellectual disability | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | Juberg Hayward Syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar | PMID:15689435 more ... | Melnick-Needles syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles | ClinVar | PMID:15689435 more ... | 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 ... | microcephaly | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:11007980 more ... | Micrognathism | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Micrognathia | ClinVar | PMID:11007980 more ... | Nervous System Malformations | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:10508514 more ... | Neurodevelopmental Disorders | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:10767337 more ... | 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 ... | otopalatodigital syndrome type 2 | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Otopalatodigital Syndrome and Type II | ClinVar | PMID:15689435 more ... | paraplegia | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:10480214 more ... | periventricular nodular heterotopia | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | Periventricular Nodular Heterotopia 4 | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heterotopia more ... | ClinVar | PMID:15689435 more ... | Rett syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rett syndrome | ClinVar | PMID:23770565 more ... | Rett syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rett syndrome | ClinVar | PMID:10508514 more ... | Rett Syndrome, Atypical | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atypical Rett syndrome | ClinVar | PMID:10508514 more ... | Rett Syndrome, Zappella Variant | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rett syndrome and zappella variant | ClinVar | PMID:10508514 more ... | schizophrenia | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:20479760 and PMID:34837432 | severe congenital encephalopathy due to MECP2 mutation | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24321989 more ... | severe congenital encephalopathy due to MECP2 mutation | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10232754 more ... | severe congenital encephalopathy due to MECP2 mutation | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10232754 more ... | severe congenital encephalopathy due to MECP2 mutation | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24511209 more ... | Smith-Magenis syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Smith-Magenis Syndrome-like | ClinVar | PMID:10854091 more ... | Splenomegaly | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Splenomegaly | ClinVar | PMID:25741868 | stereotypic movement disorder | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stereotypic movement disorder | ClinVar | PMID:15737703 more ... | syndromic X-linked intellectual disability Lubs type | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10508514 more ... | X-linked intellectual disability-psychosis-macroorchidism syndrome | | ISO | MECP2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10232754 more ... | |