Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Aicardi-Goutieres Syndrome 1 | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar | PMID:16845398 and PMID:28492532 | amelogenesis imperfecta | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 | ClinVar | PMID:16484981 more ... | autosomal dominant dystrophic epidermolysis bullosa | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica and autosomal dominant | ClinVar | PMID:10084325 more ... | Cicatrix | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Scarring | ClinVar | PMID:12787275 more ... | distal myopathy | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar | PMID:12787275 more ... | Duane retraction syndrome | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Duane retraction syndrome | ClinVar | PMID:11167698 more ... | Dwarfism | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:12787275 more ... | epidermolysis bullosa | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolysis bullosa | ClinVar | PMID:16971478 more ... | epidermolysis bullosa dystrophica | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10084325 more ... | Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica more ... | ClinVar | PMID:10408773 more ... | Epidermolysis Bullosa Pruriginosa | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10367729 more ... | epidermolysis bullosa with congenital localized absence of skin and deformity of nails | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA and BART TYPE | ClinVar | PMID:10383749 more ... | epidermolytic hyperkeratosis | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma | ClinVar | PMID:28492532 | Failure to Thrive | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Failure to thrive | ClinVar | PMID:12787275 more ... | genetic disease | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10504458 more ... | hepatoblastoma | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatoblastoma | ClinVar | PMID:28492532 | Hyperpigmentation | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperpigmentation | ClinVar | PMID:12787275 more ... | microcephaly | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:12787275 more ... | nonsyndromic congenital nail disorder 4 | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anonychia | ClinVar | PMID:10408773 more ... | nonsyndromic congenital nail disorder 8 | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10383749 more ... | pretibial dystrophic epidermolysis bullosa | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10383749 more ... | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:28492532 | recessive dystrophic epidermolysis bullosa | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10084325 more ... | transient bullous dermolysis of the newborn | | ISO | COL7A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10084325 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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