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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenoleukodystrophy | | IAGP | RGD:14707098 | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:28492532 | adrenoleukodystrophy | | IAGP | RGD:14710872 | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:28492532 | autistic disorder | | IAGP | RGD:14351525 | 8554872 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:21681106, PMID:30208311 | creatine transporter deficiency | | IAGP | RGD:26898679 | 8554872 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar | PMID:18047645 more ... | Developmental Disabilities | | IAGP | RGD:12741813 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | genetic disease | | IAGP | RGD:13530276 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10329713 more ... | microcephaly | | IAGP | RGD:38597020 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism | | IAGP | RGD:12741940 | 8554872 | ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome | ClinVar | | Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism | | IAGP | RGD:126744137 | 8554872 | ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome | ClinVar | PMID:25741868 | Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism | | IAGP | RGD:38597830 | 8554872 | ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome | ClinVar | PMID:25741868 | Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism | | IAGP | RGD:21073830 | 8554872 | ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome | ClinVar | | Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism | | IAGP | RGD:8573586 | 8554872 | ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome | ClinVar | PMID:24011989 | Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism | | IAGP | RGD:12895047 | 8554872 | ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome | ClinVar | | Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism | | IAGP | RGD:8573588 | 8554872 | ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome | ClinVar | PMID:24011989 | Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism | | IAGP | RGD:8573587 | 8554872 | ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome | ClinVar | PMID:24011989 | severe congenital encephalopathy due to MECP2 mutation | | IAGP | RGD:26896983 | 8554872 | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly | ClinVar | PMID:15351775 more ... | severe congenital encephalopathy due to MECP2 mutation | | IAGP | RGD:13818653 | 8554872 | ClinVar Annotator: match by term: Encephalopathy more ... | ClinVar | PMID:15351775 more ... | syndromic X-linked intellectual disability Lubs type | | IAGP | RGD:14399337 | 8554872 | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar | PMID:25741868 | |