Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acromesomelic dysplasia, Maroteaux type | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1 and Maroteaux type | ClinVar | PMID:28492532 | anauxetic dysplasia | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anauxetic dysplasia | ClinVar | PMID:28492532 | arthrogryposis multiplex congenita | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11738357 more ... | autosomal recessive distal hereditary motor neuronopathy 2 | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar | PMID:28492532 | congenital myopathy 4A | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar | PMID:25741868 | distal arthrogryposis type 1 | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA more ... | ClinVar | PMID:11738357 more ... | distal arthrogryposis type 1A | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arthrogryposis more ... | ClinVar | PMID:11738357 more ... | distal arthrogryposis type 2B | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities | ClinVar | PMID:25741868 | distal arthrogryposis type 2B1 | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 | ClinVar | PMID:25741868 | Distal Arthrogryposis Type 2B4 | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arthrogryposis more ... | ClinVar | PMID:17339586 more ... | frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | ClinVar | PMID:28492532 | galactosemia | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar | PMID:28492532 | genetic disease | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | hyperphosphatasia with impaired intellectual development syndrome 2 | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 | ClinVar | PMID:22683086 more ... | nemaline myopathy | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nemaline Myopathy and Dominant | ClinVar | PMID:11738357 more ... | nemaline myopathy 4 | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11738357 more ... | primary ciliary dyskinesia | | ISO | TPM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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